MedWorm: Genetics

Diversity of Cellulolytic Microbes and the Biodegradation of Municipal Solid Waste by a Potential Strain

Comparative and Functional Genomics — Thu, 09 Feb 2012 14:27:09 +0100

Municipal solid waste contains high amounts of cellulose, which is an ideal organic waste for the growth of most of microorganism as well as composting by potential microbes. In the present study, Congo red test was performed for screening of microorganism, and, after selecting a potential strains, it was further used for biodegradation of organic municipal solid waste. Forty nine out of the 250 different microbes tested (165 belong to fungi and 85 to bacteria) produced cellulase enzyme and among these Trichoderma viride was found to be a potential strain in the secondary screening. During the biodegradation of organic waste, after 60 days, the average weight losses were 20.10% in the plates and 33.35% in the piles. There was an increase in pH until 20 days. pH however, stabilize...

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Controversies in using urine samples for prostate cancer detection: PSA and PCA3 expression analysis

International Braz J Urol — Thu, 09 Feb 2012 12:58:42 +0100

CONCLUSION: This work confirms that prostate massage is important before urine collection for gene expression analysis. Since PSA and PCA3 are prostate specific, it is necessary to promote the passage of cells from prostate to urinary tract, in order to detect these genetic markers in urine samples. (Source: International Braz J Urol)

Reprogramming of prostate cancer‐associated stromal cells to embryonic stem‐like

The Prostate — Thu, 09 Feb 2012 12:55:08 +0100

CONCLUSIONSGenes of CP stromal cells could be fully inactivated by genetic reprogramming. As a consequence, the disease phenotype was ‘cured’. Prostate © 2012 Wiley Periodicals, Inc. (Source: The Prostate)

Genetic Sequencing Of Patients To Guide Treatment For Tuberculosis

Health News from Medical News Today — Thu, 09 Feb 2012 09:00:00 +0100

A gene that influences the inflammatory response to infection may also predict the effectiveness of drug treatment for a deadly form of tuberculosis. An international collaboration between researchers at the University of Washington in Seattle, Duke University, Harvard University, the Oxford University Clinical Research Unit in Vietnam and Kings College London reported these findings in the journal Cell... (Source: Health News from Medical News Today)

First European Clinical Practice Guidelines For Wilson's Disease Published By EASL

Health News from Medical News Today — Thu, 09 Feb 2012 08:00:00 +0100

The first European Clinical Practice Guidelines (CPGs) for the diagnosis and management of Wilson's disease are published by the European Association for the Study of the Liver (EASL) on the EASL website*.(1) Developed to assist physicians and healthcare providers in the clinical decision making process, the guidelines describe best practice for the diagnosis and treatment of patients with Wilson's disease -- a rare genetic(2) disorder that, if left untreated, is fatal... (Source: Health News from Medical News Today)

Genetic Screening and Counseling: Family Medicine Obstetrics

Primary Care: Clinics in Office Practice — Thu, 09 Feb 2012 06:32:26 +0100

This article reviews these concerns and provides a framework for training in family medicine obstetrics training. (Source: Primary Care: Clinics in Office Practice)

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Heart Disease Risk May Be Tied to Y Chromosome

NYT Health — Thu, 09 Feb 2012 05:34:03 +0100

Men’s higher risk for heart may result in part from genetic variants on the one chromosome unique to men, researchers have found. (Source: NYT Health)

Potent antitumor activity of oncolytic adenovirus-mediated SOCS1 for hepatocellular carcinoma

Gene Therapy — Thu, 09 Feb 2012 05:00:00 +0100

Authors: L Liu, W Li, X Wei, Q Cui, W Lou, G Wang, X Hu & C Qian (Source: Gene Therapy)

Zinc-finger nucleases: looking toward translation

Gene Therapy — Thu, 09 Feb 2012 05:00:00 +0100

Authors: N J Palpant & D M Dudzinski (Source: Gene Therapy)

Progress in gene therapy of dystrophic heart disease

Gene Therapy — Thu, 09 Feb 2012 05:00:00 +0100

Authors: Y Lai & D Duan (Source: Gene Therapy)

Combination gene therapy targeting on interleukin-1β and RANKL for wear debris-induced aseptic loosening

Gene Therapy — Thu, 09 Feb 2012 05:00:00 +0100

Combination gene therapy targeting on interleukin-1β and RANKL for wear debris-induced aseptic loosening Gene Therapy advance online publication, February 9, 2012. doi:10.1038/gt.2012.1 Authors: H Wang, T-H Jia, N Zacharias, W Gong, H-X Du, P H Wooley & S-Y Yang (Source: Gene Therapy)

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Phylogeny of Galactolipid Synthase Homologs Together with their Enzymatic Analyses Revealed a Possible Origin and Divergence Time for Photosynthetic Membrane Biogenesis

DNA Research — Thu, 09 Feb 2012 05:00:00 +0100

The photosynthetic membranes of cyanobacteria and chloroplasts of higher plants have remarkably similar lipid compositions. In particular, thylakoid membranes of both cyanobacteria and chloroplasts are composed of galactolipids, of which monogalactosyldiacylglycerol (MGDG) is the most abundant, although MGDG biosynthetic pathways are different in these organisms. Comprehensive phylogenetic analysis revealed that MGDG synthase (MGD) homologs of filamentous anoxygenic phototrophs Chloroflexi have a close relationship with MGDs of Viridiplantae (green algae and land plants). Furthermore, analyses for the sugar specificity and anomeric configuration of the sugar head groups revealed that one of the MGD homologs exhibited a true MGDG synthetic activity. We therefore presumed that higher plant M...

Preferential Nucleosome Occupancy at High Values of DNA Helical Rise

DNA Research — Thu, 09 Feb 2012 05:00:00 +0100

Nucleosomes are the basic structural units of eukaryotic chromatin and play a key role in the regulation of gene expression. Nucleosome formation depends on several factors, including properties of the sequence itself, but also physical constraints and epigenetic factors such as chromatin-remodelling enzymes. In this view, a sequence-dependent approach is able to capture a general tendency of a region to bind a histone octamer. A reference data set of positioned nucleosomes of Saccharomyces cerevisiae was used to study the role of DNA helical rise in histone–DNA interaction. Genomic sequences were transformed into arrays of helical rise values by a tetranucleotide code and then turned into profiles of mean helical rise values. These profiles resemble maps of nucleosome occupancy, sug...

Identification of Substrain-Specific Mutations by Massively Parallel Whole-Genome Resequencing of Synechocystis sp. PCC 6803

DNA Research — Thu, 09 Feb 2012 05:00:00 +0100

The cyanobacterium, Synechocystis sp. PCC 6803, was the first photosynthetic organism whose genome sequence was determined in 1996 (Kazusa strain). It thus plays an important role in basic research on the mechanism, evolution, and molecular genetics of the photosynthetic machinery. There are many substrains or laboratory strains derived from the original Berkeley strain including glucose-tolerant (GT) strains. To establish reliable genomic sequence data of this cyanobacterium, we performed resequencing of the genomes of three substrains (GT-I, PCC-P, and PCC-N) and compared the data obtained with those of the original Kazusa strain stored in the public database. We found that each substrain has sequence differences some of which are likely to reflect specific mutations that may contribute ...

Diversity Array Technology Markers: Genetic Diversity Analyses and Linkage Map Construction in Rapeseed (Brassica napus L.)

DNA Research — Thu, 09 Feb 2012 05:00:00 +0100

We developed Diversity Array Technology (DArT) markers for application in genetic studies of Brassica napus and other Brassica species with A or C genomes. Genomic representation from 107 diverse genotypes of B. napus L. var. oleifera (rapeseed, AACC genomes) and B. rapa (AA genome) was used to develop a DArT array comprising 11 520 clones generated using PstI/BanII and PstI/BstN1 complexity reduction methods. In total, 1547 polymorphic DArT markers of high technical quality were identified and used to assess molecular diversity among 89 accessions of B. napus, B. rapa, B. juncea, and B. carinata collected from different parts of the world. Hierarchical cluster and principal component analyses based on genetic distance matrices identified distinct populations clustering mainly according to...

Identification of Cis-Acting Promoter Elements in Cold- and Dehydration-Induced Transcriptional Pathways in Arabidopsis, Rice, and Soybean

DNA Research — Thu, 09 Feb 2012 05:00:00 +0100

In this study, we performed microarray analyses using the three species, and compared characteristics of identified cold- and dehydration-inducible genes. Transcription profiles of the cold- and dehydration-responsive genes were similar among these three species, showing representative upregulated (dehydrin/LEA) and downregulated (photosynthesis-related) genes. All (46 = 4096) hexamer sequences in the promoters of the three species were investigated, revealing the frequency of conserved sequences in cold- and dehydration-inducible promoters. A core sequence of the abscisic acid-responsive element (ABRE) was the most conserved in dehydration-inducible promoters of all three species, suggesting that transcriptional regulation for dehydration-inducible genes is similar among these three speci...

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Discovery and mapping of a new expressed sequence tag-single nucleotide polymorphism and simple sequence repeat panel for large-scale genetic studies and breeding of Theobroma cacao L.

DNA Research — Thu, 09 Feb 2012 05:00:00 +0100

Theobroma cacao is an economically important tree of several tropical countries. Its genetic improvement is essential to provide protection against major diseases and improve chocolate quality. We discovered and mapped new expressed sequence tag-single nucleotide polymorphism (EST-SNP) and simple sequence repeat (SSR) markers and constructed a high-density genetic map. By screening 149 650 ESTs, 5246 SNPs were detected in silico, of which 1536 corresponded to genes with a putative function, while 851 had a clear polymorphic pattern across a collection of genetic resources. In addition, 409 new SSR markers were detected on the Criollo genome. Lastly, 681 new EST-SNPs and 163 new SSRs were added to the pre-existing 418 co-dominant markers to construct a large consensus genetic map. This high...

Mobilizing the Genome of Lepidoptera through Novel Sequence Gains and End Creation by Non-autonomous Lep1 Helitrons

DNA Research — Thu, 09 Feb 2012 05:00:00 +0100

Transposable elements (TEs) can affect the structure of genomes through their acquisition and transposition of novel DNA sequences. The 134-bp repetitive elements, Lep1, are conserved non-autonomous Helitrons in lepidopteran genomes that have characteristic 5'-CT and 3'-CTAY nucleotide termini, a 3'-terminal hairpin structure, a 5'- and 3'-subterminal inverted repeat (SIR), and integrations that occur between AT or TT nucleotides. Lep1 Helitrons have acquired and propagated sequences downstream of their 3'-CTAY termini that are 57–344-bp in length and have termini composed of a 3'-CTRR preceded by a 3'-hairpin structure and a region complementary to the 5'-SIR (3'-SIRb). Features of both the Lep1 Helitron and multiple acquired sequences indicate that secondary structures at the 3'-te...

Assembly, Gene Annotation and Marker Development Using 454 Floral Transcriptome Sequences in Ziziphus Celata (Rhamnaceae), a Highly Endangered, Florida Endemic Plant

DNA Research — Thu, 09 Feb 2012 05:00:00 +0100

This study demonstrates the efficacy of 454 transcriptome sequencing for rapid gene and marker discovery in an endangered plant. (Source: DNA Research)

Role of transcriptional and post‐transcriptional regulation of methionine adenosyltransferases in liver cancer progression

Hepatology — Thu, 09 Feb 2012 05:00:00 +0100

In conclusion, we found for the first time a post‐transcriptional regulation of MAT1A and MAT2A by AUF1 and HuR in HCC. Low MATI/III:MATII ratio is a prognostic marker that contributes to determine a phenotype susceptible to HCC and patients' survival. Interference with cell cycle progression and IKK/NF‐kB signaling contributes to the anti‐proliferative and pro‐apoptotic effect of high SAM levels in HCC. (HEPATOLOGY 2012.) (Source: Hepatology)

Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes

Nephrology Dialysis Transplantation — Thu, 09 Feb 2012 05:00:00 +0100

Conclusions. Among recently identified magnesium-wasting disorders, HSH and FHHNC represent two major entities also in the Turkish population. Besides clinical course and laboratory diagnosis of hypomagnesaemia, the detection of renal calcium wasting and parathyroid function are crucial to differentiate between these most prevalent forms of hereditary magnesium deficiency. While TRPM6 mutations underlying HSH almost uniformly lead to a complete loss of function of the TRPM6 protein, the severity of FHHNC phenotype depends on the residual function of the mutated claudin-16 protein. (Source: Nephrology Dialysis Transplantation)

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Hyaluronic Acid Enhances Gene Delivery into the Cochlea

Human Gene Therapy — Thu, 09 Feb 2012 04:03:09 +0100

Human Gene Therapy , Vol. 0, No. 0. (Source: Human Gene Therapy)

Heart disease risk 'inherited'

BBC News | Health | UK Edition — Thu, 09 Feb 2012 04:00:06 +0100

Scientists say a common heart disease which kills thousands each year is passed genetically from father to son. (Source: BBC News | Health | UK Edition)

Affymetrix stock down 10% after hours on Q4 earnings

bizjournals.com Health Care:Pharmaceuticals headlines — Wed, 08 Feb 2012 22:45:30 +0100

Affymetrix Inc.'s stock was down nearly 10 percent after hours on Wednesday. It closed at $5.21 per share. The Santa Clara-based company (NASDAQ:AFFX) on Wednesday reported its fourth quarter earnings. Affymetrix makes products and services related to genetic analysis for the life science research and clinical health care markets. It reported a net loss of about $14.7 million, or 21 cents per diluted share, in the fourth quarter of 2011 compared to net income of $4 million, or 6 cents per diluted share, in the same period of 2010... (Source: bizjournals.com Health Care:Pharmaceuticals headlines)

Lab-Made Neurons Allow Scientists To Study A Genetic Cause Of Parkinson's

Health News from Medical News Today — Wed, 08 Feb 2012 21:00:00 +0100

By reverse engineering human skin cells to become induced pluripotent stem cells (iPSCs) and then coaxing them to become neural dopamine cells, scientists in the US have developed a way to study a genetic cause of Parkinson's disease in lab-made neurons. Their findings, which they write about in the 7 February issue of Nature Communications, reveal some potential new drug targets for Parkinson's and a new platform to screen treatments that might mimic the protective functions of parkin, the gene they investigated... (Source: Health News from Medical News Today)

Energy-Efficient Multi-Job Scheduling Model for Cloud Computing and Its Genetic Algorithm

Advances in Pharmacological Sciences — Wed, 08 Feb 2012 18:37:00 +0100

For the problem that the energy efficiency of the cloud computing data center is low, from the point of view of the energy efficiency of the servers, we propose a new energy-efficient multi-job scheduling model based on Google’s massive data processing framework. To solve this model, we design a practical encoding and decoding method for the individuals and construct an overall energy efficiency function of the servers as the fitness value of each individual. Meanwhile, in order to accelerate the convergent speed of our algorithm and enhance its searching ability, a local search operator is introduced. Finally, the experiments show that the proposed algorithm is effective and efficient. (Source: Advances in Pharmacological Sciences)

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Self-Optimization of Pilot Power in Enterprise Femtocells Using Multi objective Heuristic

Advances in Pharmacological Sciences — Wed, 08 Feb 2012 18:37:00 +0100

Deployment of a large number of femtocells to jointly provide coverage in an enterprise environment raises critical challenges especially in future self-organizing networks which rely on plug-and-play techniques for configuration. This paper proposes a multi-objective heuristic based on a genetic algorithm for a centralized self-optimizing network containing a group of UMTS femtocells. In order to optimize the network coverage in terms of handled load, coverage gaps, and overlaps, the algorithm provides a dynamic update of the downlink pilot powers of the deployed femtocells. The results demonstrate that the algorithm can effectively optimize the coverage based on the current statistics of the global traffic distribution and the levels of interference between neighboring femtocells. The al...

Hepatic Gene Transfer in Neonatal Mice by Adeno-Associated Virus Serotype 8 Vector

Human Gene Therapy — Wed, 08 Feb 2012 17:57:16 +0100

Human Gene Therapy , Vol. 0, No. 0. (Source: Human Gene Therapy)

Consumers want tougher probe of engineered salmon

Reuters: Health — Wed, 08 Feb 2012 16:27:12 +0100

WASHINGTON (Reuters) - Three consumer groups petitioned the Food and Drug Administration on Tuesday to subject a new genetically engineered salmon to a more rigorous review process than is now in place before the fish can be approved as safe to eat. (Source: Reuters: Health)

Isolation of Human Islets for Autologous Islet Transplantation in Children and Adolescents with Chronic Pancreatitis

Anesthesiology Research and Practice — Wed, 08 Feb 2012 12:16:29 +0100

We present here a technical approach for the isolation and preservation of the islets proven to be efficient to obtain high numbers of islets, favoring the successful treatment of young patients. (Source: Anesthesiology Research and Practice)

Analysis of HLA‐DM polymorphisms in the Chinese Han population

Tissue Antigens — Wed, 08 Feb 2012 11:12:48 +0100

This study lays the foundations for further disease association analyses. (Source: Tissue Antigens)

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Spoon-feeding compared with 'baby-led' weaning

NHS News Feed — Wed, 08 Feb 2012 10:22:00 +0100

Conclusion While it was widely reported, this small cross-sectional study proves very little about the possible impact of different weaning methods on children’s food preferences, BMI or other health outcomes. Instead, because of its cross-sectional design, it can provide only a snapshot of all these factors (as reported by parents) at one point in time. It cannot show, for example, that babies who prefer carbohydrates do so because they were weaned on finger foods, as some news sources have reported. Many factors can affect a child’s food preferences and BMI, including genetic factors, exercise and social and demographic background (which was indicated to a degree by the fact that higher socioeconomic status was associated with higher vegetable intake). Though the study found differen...

Hope For Effective Endometriosis Screening Following Gene Mutation Discovery

Health News from Medical News Today — Wed, 08 Feb 2012 09:00:00 +0100

Researchers at Yale School of Medicine have, for the first time, described the genetic basis of endometriosis, a condition affecting millions of women that is marked by chronic pelvic pain and infertility. The researchers' discovery of a new gene mutation provides hope for new screening methods. Published in the early online issue of EMBO Molecular Medicine, the study explored an inherited mutation located in part of the KRAS gene, which leads to abnormal endometrial growth and endometrial risk... (Source: Health News from Medical News Today)

Molecular Link Established Between Genetic Defect And Heart Malformation

Health News from Medical News Today — Wed, 08 Feb 2012 09:00:00 +0100

UNC researchers have discovered how the genetic defect underlying one of the most common congenital heart diseases keeps the critical organ from developing properly. According to the new research, mutations in a gene called SHP-2 distort the shape of cardiac muscle cells so they are unable to form a fully functioning heart. The study also shows that treatment with a drug that regulates cell shape rescues the cardiac defect, pointing to therapeutic avenues that could one day benefit Noonan syndrome patients... (Source: Health News from Medical News Today)

Anthrax Susceptibility Varies Between Individuals

Health News from Medical News Today — Wed, 08 Feb 2012 08:00:00 +0100

Susceptibility to anthrax toxin is a heritable genetic trait that may vary tremendously among individuals, according to a new study by researchers at the Stanford University School of Medicine. Among 234 people studied, the cells of three people were virtually insensitive to the toxin, while the cells of some people were hundreds of times more sensitive than those of others. The findings may have important implications for national security, as people known to be more resistant to anthrax exposure could be effective first-line responders in times of crises... (Source: Health News from Medical News Today)

Parkinson's cells 'made in lab'

BBC News | Health | UK Edition — Wed, 08 Feb 2012 07:57:01 +0100

Scientists in the US have successfully made human brain cells in the lab that are an exact replica of genetically caused Parkinson's disease. (Source: BBC News | Health | UK Edition)

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Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1

American Journal of Medical Genetics Part A — Wed, 08 Feb 2012 05:00:00 +0100

AbstractThe proximal region of the long arm of chromosome 22 is rich in low copy repeats (LCR). Non‐allelic homologous recombination (NAHR) between these substrates explains the high prevalence of recurrent rearrangements within this region. We have performed array comparative genomic hybridization in a normally developing girl with growth delay, microcephaly, and truncus arteriosus, and have identified a novel recurrent 22q11 deletion that spans LCR22‐4 and partially affects the common 22q11.2 deletion syndrome and the distal 22q11 deletion syndrome. This deletion is atypical as it did not occur by NAHR between any of the major LCRs found on 22q11.2. However, the breakpoint containing regions coincide with highly homologous regions. An identical imbalance was reported previously in a ...

Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation

European Journal of Human Genetics — Wed, 08 Feb 2012 05:00:00 +0100

Authors: Alan H Handyside, Markus Montag, M Cristina Magli, Sjoerd Repping, Joyce Harper, Andreas Schmutzler, Katerina Vesela, Luca Gianaroli & Joep Geraedts (Source: European Journal of Human Genetics)

The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees

European Journal of Human Genetics — Wed, 08 Feb 2012 05:00:00 +0100

Authors: Hong Chen, Jing Zheng, Ling Xue, Yanzi Meng, Yan Wang, Bingjiao Zheng, Fang Fang, Suxue Shi, Qiaomeng Qiu, Pingping Jiang, Zhongqiu Lu, Jun Qin Mo, Jianxin Lu & Min-Xin Guan (Source: European Journal of Human Genetics)

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

European Journal of Human Genetics — Wed, 08 Feb 2012 05:00:00 +0100

Authors: Jill A Rosenfeld, Ryan N Traylor, G Bradley Schaefer, Elizabeth W McPherson, Blake C Ballif, Eva Klopocki, Stefan Mundlos, Lisa G Shaffer & Arthur S Aylsworth (Source: European Journal of Human Genetics)

Characterization of the intronic portion of cadherin superfamily members, common cancer orchestrators

European Journal of Human Genetics — Wed, 08 Feb 2012 05:00:00 +0100

Authors: Patrícia Oliveira, Remo Sanges, David Huntsman, Elia Stupka & Carla Oliveira (Source: European Journal of Human Genetics)

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Permutation-based approaches do not adequately allow for linkage disequilibrium in gene-wide multi-locus association analysis

European Journal of Human Genetics — Wed, 08 Feb 2012 05:00:00 +0100

Authors: Valentina Moskvina, Karl M Schmidt, Alexey Vedernikov, Michael J Owen, Nicholas Craddock, Peter Holmans & Michael C O'Donovan (Source: European Journal of Human Genetics)

C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome

European Journal of Human Genetics — Wed, 08 Feb 2012 05:00:00 +0100

C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome European Journal of Human Genetics advance online publication, February 8, 2012. doi:10.1038/ejhg.2012.12 Authors: Michael Klüppel, Payman Samavarchi-Tehrani, Kela Liu, Jeffrey L Wrana & Aleksander Hinek (Source: European Journal of Human Genetics)

An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice

European Journal of Human Genetics — Wed, 08 Feb 2012 05:00:00 +0100

Authors: Gemma R Brett, Sylvia A Metcalfe, David J Amor & Jane L Halliday (Source: European Journal of Human Genetics)

Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome

European Journal of Human Genetics — Wed, 08 Feb 2012 05:00:00 +0100

Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome European Journal of Human Genetics advance online publication, February 8, 2012. doi:10.1038/ejhg.2012.2 Authors: Michael Bowman, Michael Oldridge, Caroline Archer, Anthony O'Rourke, Joanna McParland, Roel Brekelmans, Anneke Seller & Tracy Lester (Source: European Journal of Human Genetics)

Retrotransposon Ty1 integration targets specifically positioned asymmetric nucleosomal DNA segments in tRNA hotspots [RESEARCH]

Genome Research — Wed, 08 Feb 2012 05:00:00 +0100

The Saccharomyces cerevisiae genome contains about 35 copies of dispersed retrotransposons called Ty1 elements. Ty1 elements target regions upstream of tRNA genes and other Pol III-transcribed genes when retrotransposing to new sites. We used deep sequencing of Ty1-flanking sequence amplicons to characterize Ty1 integration. Surprisingly, some insertions were found in mitochondrial DNA sequences, presumably reflecting insertion into mitochondrial DNA segments that had migrated to the nucleus. The overwhelming majority of insertions were associated with the 5' regions of Pol III transcribed genes; alignment of Ty1 insertion sites revealed a strong sequence motif centered on but extending beyond the target site duplication. A strong sequence-independent preference for nucleosomal integration...

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Cell-type-specific nuclei purification from whole animals for genome-wide expression and chromatin profiling [METHOD]

Genome Research — Wed, 08 Feb 2012 05:00:00 +0100

We describe the use of the method to isolate nuclei from muscle of adult Caenorhabditis elegans and from mesoderm of Drosophila melanogaster embryos. As a case study, we determined expression and nucleosome occupancy profiles for affinity-purified nuclei from C. elegans muscle. We identified hundreds of genes that are specifically expressed in muscle tissues and found that these genes are depleted of nucleosomes at promoters and gene bodies in muscle relative to other tissues. This method should be universally applicable to all model systems that allow transgenesis and will make it possible to determine epigenetic and expression profiles of different tissues and cell types. (Source: Genome Research)

An ancient genomic regulatory block conserved across bilaterians and its dismantling in tetrapods by retrogene replacement [RESEARCH]

Genome Research — Wed, 08 Feb 2012 05:00:00 +0100

Developmental genes are regulated by complex, distantly located cis-regulatory modules (CRMs), often forming genomic regulatory blocks (GRBs) that are conserved among vertebrates and among insects. We have investigated GRBs associated with Iroquois homeobox genes in 39 metazoans. Despite 600 million years of independent evolution, Iroquois genes are linked to ankyrin-repeat-containing Sowah genes in nearly all studied bilaterians. We show that Iroquois-specific CRMs populate the Sowah locus, suggesting that regulatory constraints underlie the maintenance of the Iroquois–Sowah syntenic block. Surprisingly, tetrapod Sowah orthologs are intronless and not associated with Iroquois; however, teleost and elephant shark data demonstrate that this is a derived feature, and that many Iroquois...

Drosophila Genetic Reference Panel bridges genotype-phenotype gap

Baylor College of Medicine News — Wed, 08 Feb 2012 05:00:00 +0100

(Source: Baylor College of Medicine News)

Outgrowth of single oncogene-expressing cells from suppressive epithelial environments

Nature AOP — Wed, 08 Feb 2012 05:00:00 +0100

Authors: Cheuk T. Leung & Joan S. Brugge Tumorigenesis is a clonal evolution process that is initiated from single cells within otherwise histologically normal tissue. It is unclear how single, sporadic mutant cells that have sustained oncogenic alterations evolve within a tightly regulated tissue environment. Here we investigated the effects of inducing oncogene expression in single cells in organotypic mammary acini as a model to elucidate the processes by which oncogenic alterations initiate clonal progression from organized epithelial environments. Sporadic cells induced to overexpress oncogenes that specifically perturb cell-cycle checkpoints (for example, E7 from human papilloma virus 16, and cyclin D1), deregulate Myc transcription or activate AKT signalling remained quiescent w...

Expression of tumour-specific antigens underlies cancer immunoediting

Nature AOP — Wed, 08 Feb 2012 05:00:00 +0100

Authors: Michel DuPage, Claire Mazumdar, Leah M. Schmidt, Ann F. Cheung & Tyler Jacks Cancer immunoediting is a process by which immune cells, particularly lymphocytes of the adaptive immune system, protect the host from the development of cancer and alter tumour progression by driving the outgrowth of tumour cells with decreased sensitivity to immune attack. Carcinogen-induced mouse models of cancer have shown that primary tumour susceptibility is thereby enhanced in immune-compromised mice, whereas the capacity for such tumours to grow after transplantation into wild-type mice is reduced. However, many questions about the process of cancer immunoediting remain unanswered, in part because of the known antigenic complexity and heterogeneity of carcinogen-induced tumours. Here we adapte...

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Functional dissection of lysine deacetylases reveals that HDAC1 and p300 regulate AMPK

Nature — Wed, 08 Feb 2012 05:00:00 +0100

Authors: Yu-yi Lin, Samara Kiihl, Yasir Suhail, Shang-Yun Liu, Yi-hsuan Chou, Zheng Kuang, Jin-ying Lu, Chin Ni Khor, Chi-Long Lin, Joel S. Bader, Rafael Irizarry & Jef D. Boeke First identified as histone-modifying proteins, lysine acetyltransferases (KATs) and deacetylases (KDACs) antagonize each other through modification of the side chains of lysine residues in histone proteins. Acetylation of many non-histone proteins involved in chromatin, metabolism or cytoskeleton regulation were further identified in eukaryotic organisms, but the corresponding enzymes and substrate-specific functions of the modifications are unclear. Moreover, mechanisms underlying functional specificity of individual KDACs remain enigmatic, and the substrate spectra of each KDAC lack comprehensive defini...

The Drosophila melanogaster Genetic Reference Panel

Nature — Wed, 08 Feb 2012 05:00:00 +0100

Authors: Trudy F. C. Mackay, Stephen Richards, Eric A. Stone, Antonio Barbadilla, Julien F. Ayroles, Dianhui Zhu, Sònia Casillas, Yi Han, Michael M. Magwire, Julie M. Cridland, Mark F. Richardson, Robert R. H. Anholt, Maite Barrón, Crystal Bess, Kerstin Petra Blankenburg, Mary Anna Carbone, David Castellano, Lesley Chaboub, Laura Duncan, Zeke Harris, Mehwish Javaid, Joy Christina Jayaseelan, Shalini N. Jhangiani, Katherine W. Jordan, Fremiet Lara, Faye Lawrence, Sandra L. Lee, Pablo Librado, Raquel S. Linheiro, Richard F. Lyman, Aaron J. Mackey, Mala Munidasa, Donna Marie Muzny, Lynne Nazareth, Irene Newsham, Lora Perales, Ling-Ling Pu, Carson Qu, Miquel Ràmia, Jeffrey G. Reid, Stephanie M. Rollmann, Julio Rozas, Nehad Saada, Lavanya Turlapati, Kim C. Worley, Yuan-Qing Wu, A...

Genetics: How intelligence changes with age

Nature — Wed, 08 Feb 2012 05:00:00 +0100

Authors: Robert Plomin An analysis of common genetic variants shows that hereditary factors that influence intelligence in childhood also affect it in old age. Such work could signal the end of the nature–nurture controversy. See Letter p.212 (Source: Nature)

Functional genomics: The changes that count

Nature — Wed, 08 Feb 2012 05:00:00 +0100

Nature 482, 7384 (2012). doi:10.1038/482257a Author: Monya Baker As more mutations are found across the genome, geneticists are focusing on learning which ones are likely to cause human disease, and how. (Source: Nature)

Spinal cord trauma and the molecular point of no return

Molecular Neurodegeneration — Wed, 08 Feb 2012 05:00:00 +0100

A mechanical trauma to the spinal cord can be followed by the development of irreversible and progressive neurodegeneration, as opposed to a temporary or partially reversible neurological damage. An increasing body of experimental and clinical evidence from humans and animal models indicates that spinal cord injury may set in motion the development of disabling and at times fatal neuromuscular disorders, whose occurrence is not normally associated with any major environmental event. This outcome appears to be dependent on the co-occurrence of a particular form of mechanical stress and of a genetically-determined vulnerability. This increased vulnerability to spinal cord injury may depend on a change of the nature and of the timing of activation of a number of neuroprotective and neurodestr...

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DQB10602 rather than DRB11501 confers susceptibility to multiple sclerosis-like disease induced by proteolipid protein (PLP)

Journal of Neuroinflammation — Wed, 08 Feb 2012 05:00:00 +0100

Conclusions: While genome studies map a strong MS susceptibility effect to the region of DRB1*1501, our findings offer a rationale for potential involvement of pathogenic DQ6-associated autoimmunity in MS. Moreover, that DQB1*0602, but not DRB1*1501, determines disease-susceptibility to PLP in HLA-transgenics, suggests a potential differential, functional role for DQB1*0602 as a predisposing allele in MS. This, together with previously demonstrated disease-susceptibility to MBP and MOG in DRB1*1501-transgenics, also suggests a differential role for DRB1*1501 and DQB1*0602 depending on target antigen and imply a potential complex 'genotype/target antigen/phenotype' relationship in MS heterogeneity. (Source: Journal of Neuroinflammation)

Meeting Materials for the Neurological Devices Panel meeting to be held on 2/10/12

Food and Drug Adminstration (FDA): CDRHNew — Wed, 08 Feb 2012 05:00:00 +0100

The Neurological Devices Panel reviews and evaluates data concerning the safety and effectiveness of marketed and investigational in vitro devices for use in clinical laboratory medicine including clinical and molecular genetics ... (Source: Food and Drug Adminstration (FDA): CDRHNew)

Extracellular matrix alterations in experimental Leishmania amazonensis infection in susceptible and resistant mice

BioMed Central — Wed, 08 Feb 2012 05:00:00 +0100

Leishmania is inoculated, by the bite of an infected sandfly, into the skin of the host, where the promastigotes are phagocyted by dermal macrophages. The dermal region comprises cells and abundant extracellular matrix. Studies show that matrix metalloproteinases play an important role in host defense responses against pathogens in mammals and that their activities lead to the production of antimicrobial peptides. The aim of this study is to evaluate the changes in the distribution of fibronectin and laminin as well as in the elastic system fibres during the course of infection caused by Leishmania amazonensis in mice with distinct genetic backgrounds of susceptibility to this parasite. The results showed that BALB/c presented an enhancement of fibronectin during the course of infection wh...

Von Willebrand disease: Clinical and laboratory lessons learned from the large von Willebrand disease studies

American Journal of Hematology — Wed, 08 Feb 2012 05:00:00 +0100

AbstractDuring the past 25 years, our knowledge concerning the pathogenesis, diagnostic strategies and treatment of von Willebrand disease (VWD) has increased significantly. Following the immunological differentiation of factor VIII (FVIII) and von Willebrand factor (VWF) in the 1970s and the cloning of the FVIII and VWF genes in the mid‐1980s, substantial progress has been made in our understanding of this, the most common inherited bleeding disorder. We now recognize that VWD represents a range of genetic diseases all with the clinical endpoint of increased mucocutaneous bleeding. The molecular pathology of Type 2 and Type 3 VWD is now comprehensively documented and involves rare sequence variants at the VWF locus. In contrast, the genetic causation of Type 1 disease remains incomplete...

Cyril Clarke and the prevention of rhesus haemolytic disease of the newborn

British Journal of Haematology — Wed, 08 Feb 2012 05:00:00 +0100

SummaryCyril Clarke was an outstanding general physician and lepidopterist. Late in his career, and stimulated by his work on the genetics of mimicry in butterflies, he became interested in the evolving field of medical genetics. His work on the relationship of blood groups to particular diseases led him and his team in Liverpool to evolve a remarkably successful approach to the prevention of Rhesus haemolytic disease of the newborn. (Source: British Journal of Haematology)

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BioResearch Open Access launching in March 2012 from Mary Ann Liebert, Inc., publishers

EurekAlert! - Medicine and Health — Wed, 08 Feb 2012 05:00:00 +0100

(Mary Ann Liebert, Inc./Genetic Engineering News) BioResearch Open Access, a new bimonthly peer-reviewed open access journal, will launch in March 2012 by Mary Ann Liebert, Inc., publishers. The journal will provide a new rapid-publication forum for a broad range of scientific topics including but not limited to molecular and cellular biology, tissue engineering and biomaterials, regenerative medicine, stem cells, gene therapy, systems biology, genetics, biochemistry, virology, microbiology, and neuroscience. (Source: EurekAlert! - Medicine and Health)

Consumer groups want tougher probe of engineered salmon

Reuters: Health — Wed, 08 Feb 2012 02:49:16 +0100

WASHINGTON (Reuters) - Three U.S. consumer groups petitioned the Food and Drug Administration on Tuesday to subject a new genetically engineered salmon to a more rigorous review process than is now in place before the fish can be approved as safe to eat. (Source: Reuters: Health)

Brain cells made in US lab open doors for Parkinson’s research

Pharmaceutical Technology — Wed, 08 Feb 2012 00:00:00 +0100

US scientists have paved the way for major research into Parkinson’s disease after successfully making human brain cells in the lab that are an exact replica of a genetically-caused form of the illness. (Source: Pharmaceutical Technology)

BMD Values and GSTM3 Gene Polymorphisms in Combination with GSTT1/GSTM1 Genes: A Genetic Association Study in Slovenian Elderly

Gerontology — Tue, 07 Feb 2012 23:00:00 +0100

Gerontology (DOI:10.1159/000335048) (Source: Gerontology)

Genetic Polymorphisms of FcγRIIa and FcγRIIIa Are Not Predictive of Clinical Outcomes after Cetuximab plus Irinotecan Chemotherapy in Patients with Metastatic Colorectal Cancer

Karger Publishers — Tue, 07 Feb 2012 23:00:00 +0100

Oncology 2012;82:83-89 (DOI:10.1159/000335959) (Source: Karger Publishers)

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Retargeting Vesicular Stomatitis Virus Using Measles Virus Envelope Glycoproteins

Human Gene Therapy — Tue, 07 Feb 2012 16:46:46 +0100

Human Gene Therapy , Vol. 0, No. 0. (Source: Human Gene Therapy)

Genetically Engineered Transmissible Influenza A/H5N1: A Call for Laboratory Safety and Security

Biosecurity and Bioterrorism: Biodefense Strategy, Practice, and Science — Tue, 07 Feb 2012 14:43:15 +0100

Biosecurity and Bioterrorism: Biodefense Strategy, Practice, and Science , Vol. 0, No. 0. (Source: Biosecurity and Bioterrorism: Biodefense Strategy, Practice, and Science)

Guide for Authors

Biological Psychiatry — Tue, 07 Feb 2012 14:12:03 +0100

Biological Psychiatry is the official journal of the Society of Biological Psychiatry. The Journal rapidly publishes reports of novel results on a broad range of topics related to the pathophysiology and treatment of major neuropsychiatric disorders. Both basic and clinical neuroscience contributions are encouraged, particularly those addressing genetic and environmental risk factors, neural circuitry and neurochemistry, and important new therapeutic approaches. Except where explicitly stated otherwise, Biological Psychiatry conforms to the guidelines set forth by the International Committee of Medical Journal Editors (ICMJE) (see Uniform Requirements for Manuscripts Submitted to Biomedical Journals: Writing and Editing for Biomedical Publication (April 2010): Available from http://www.ICM...

New Prostate Cancer Drug Target Identified

Health News from Medical News Today — Tue, 07 Feb 2012 09:00:00 +0100

Research led by Wanguo Liu, PhD, Associate Professor of Genetics at LSU Health Sciences Center New Orleans, has identified a new protein critical to the development and growth of prostate cancer. The findings are published online in the Early Edition of Proceedings of the National Academy of Sciences, available the week of February 6, 2012. Dr. Liu and his team discovered a protein called ARD1 which is involved with the male hormone, androgen, and its receptor. Prostate cancer is a hormone-regulated disease and the main hormone is androgen... (Source: Health News from Medical News Today)

A Particular Breast Cancer Subtype May Respond To Drugs Targeting Chromosomal Instability

Health News from Medical News Today — Tue, 07 Feb 2012 09:00:00 +0100

Another layer in breast cancer genetics has been peeled back. A team of researchers at Jefferson's Kimmel Cancer Center (KCC) led by Richard G. Pestell, M.D., PhD., FACP, Director of the KCC and Chair of the Department of Cancer Biology, have shown in a study published online in the Journal of Clinical Investigation that the oncogene cyclin D1 may promote a genetic breakdown known as chromosomal instability (CIN). CIN is a known, yet poorly understood culprit in tumor progression... (Source: Health News from Medical News Today)

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More Accurate Diagnosis Of Genetic Mutations Expected Using New Virtual Tool

Health News from Medical News Today — Tue, 07 Feb 2012 09:00:00 +0100

DNA sequencing to detect genetic mutations can aid in the diagnosis and selection of treatment for cancer. Current methods of testing DNA samples, Sanger sequencing and pyrosequencing, occasionally produce complex results that can be difficult or impossible to interpret. Scientists at the Johns Hopkins University School of Medicine have developed a free software program, Pyromaker, that can more accurately identify such complex genetic mutations... (Source: Health News from Medical News Today)

Genetic Variant Increases Risk Of Common Type Stroke

Health News from Medical News Today — Tue, 07 Feb 2012 09:00:00 +0100

A genetic variant that increases the risk of a common type of stroke has been identified by scientists in a study published online in Nature Genetics. This is one of the few genetic variants to date to be associated with risk of stroke and the discovery opens up new possibilities for treatment. Stroke is the second leading cause of death worldwide (more than one in 10 of all deaths, and over six million deaths annually), and also in developed countries is a major cause of chronic disability. As the world's populations age the impact of stroke on wellbeing is likely to increase further... (Source: Health News from Medical News Today)

Researchers Weigh Methods To More Accurately Measure Genome Sequencing

Health News from Medical News Today — Tue, 07 Feb 2012 08:00:00 +0100

Lost in the euphoria of the 2003 announcement that the human genome had been sequenced was a fundamental question: how can we be sure that an individual's genome has been read correctly? While the first full, individual genome was sequenced a decade ago, given the vast genetic variation across the world's seven billion people, not to mention the differences in makeup even among close relatives, the question of accurate sequencing for individuals has continued to vex researchers... (Source: Health News from Medical News Today)

Parasites Or Not? Transposable Elements In Fruit Flies

Health News from Medical News Today — Tue, 07 Feb 2012 08:00:00 +0100

Many living organisms suffer from parasites, which use the hosts' resources for their own purposes. The problem of parasitism occurs at all levels right down to the DNA scale. Genomes may contain up to 80% "foreign" DNA but details of the mechanisms by which this enters the host genome and how hosts attempt to combat its spread are still the subject of conjecture. Important new information comes from the group of Christian Schlotterer at the University of Veterinary Medicine, Vienna. The findings are published in the prestigious journal PLoS Genetics... (Source: Health News from Medical News Today)

Non-Invasive DNA Test That Identifies Down Syndrome In Pregnancy Can Also Detect Trisomy 18 And Trisomy 13

Health News from Medical News Today — Tue, 07 Feb 2012 08:00:00 +0100

A newly available DNA-based prenatal blood test that can identify a pregnancy with Down syndrome can also identify two additional chromosome abnormalities: trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome).The test for all three defects can be offered as early as 10 weeks of pregnancy to women who have been identified as being at high risk for these abnormalities. These are the results of an international, multicenter study published on-line today in the journal Genetics in Medicine... (Source: Health News from Medical News Today)

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Patients within the broad holoprosencephaly spectrum have distinct and subtle ophthalmologic anomalies: Response to Khan

American Journal of Medical Genetics Part A — Tue, 07 Feb 2012 05:00:00 +0100

(Source: American Journal of Medical Genetics Part A)

Unusual ribbon‐like periventricular heterotopia with congenital cataracts in a Japanese girl

American Journal of Medical Genetics Part A — Tue, 07 Feb 2012 05:00:00 +0100

We report on a 32‐month‐old Japanese girl with a unique subtype of PH, namely ribbon‐like PH. The patient presented with severe psychomotor developmental delay, intractable epilepsy, and congenital cataracts and developed West syndrome phenotype. Brain magnetic resonance imaging revealed a unique undulating form of PH, categorized as ribbon‐like PH, and other brain malformations including simplified gyri and dysgenesis of the corpus callosum. There was no evidence of prenatal TORCH infection or associated syndrome. Array‐based comparative genomic hybridization revealed no chromosomal rearrangements. Genetic analyses of the FLNA, DCX, ARX, LIS1, and TUBA1A genes showed no mutations. Although little is known about ribbon‐like PH, the clinical manifestations in our patient clearly...

Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D

American Journal of Medical Genetics Part A — Tue, 07 Feb 2012 05:00:00 +0100

We report a female NS patient carrying a PTPN11 germline mutation c.417 G > C (p.E139D), who developed in her second year of life an acute lymphoblastic leukemia (ALL) and after remission, she developed at 4 years of age a juvenile myelomonocytic leukemia (JMML). Molecular genetic analysis of lymphoblastic blasts at the time of the ALL diagnosis revealed the germline mutation in a heterozygous state, while in the myelomonocytic blasts occurring with JMML diagnosis, the mutation p.E139D was found in a homozygous state due to a uniparental disomy (UPD). These findings lead to the suggestion that the pathogenesis of ALL and JMML in our patient is due to different mechanisms including somatically acquired secondary chromosomal abnormalities. © 2012 Wiley Periodicals, Inc. (Source: Amer...

Call for change in prenatal counseling for Down syndrome

American Journal of Medical Genetics Part A — Tue, 07 Feb 2012 05:00:00 +0100

AbstractThe American Journal of Medical Genetics Part A is to be congratulated for taking a leadership role by publishing a number of papers challenging the status quo of prenatal counseling for Down syndrome and of care for children and adults with Down syndrome. Parents want to know about the future abilities and potential of their fetus with Down syndrome, not simply negative medical information that may be outdated. Those providing counseling and those providing medical care could benefit from contact with individuals with Down syndrome outside the medical context. It is imperative that each person with Down syndrome be viewed as a unique individual with particular talents. Medical care providers should work with parents to help the child or adult with Down syndrome reach his/her goals...

Third case of 8q23.3‐q24.13 deletion in a patient with Langer–Giedion syndrome phenotype without TRPS1 gene deletion

American Journal of Medical Genetics Part A — Tue, 07 Feb 2012 05:00:00 +0100

We report on a girl with LGS phenotype and a 7.5 Mb interstitial deletion at chromosome 8q23.3‐q24.13. Array‐comparative genomic hybridization (a‐CGH) revealed a deletion encompassing only the EXT1 and not the TRPS1 gene. Even though the deletion of TRPS1 and EXT1 genes is responsible for craniofacial and skeletal features of LGS, there have been previous reports of patients with LGS phenotype and 8q24 deletions leaving the TRPS1 gene intact. To our knowledge, this is the third such case. Our patient differs from previously reported LGS patients without TRPS1 gene deletion in that she has the typical LGS facial dysmorphism and skeletal abnormalities. However, the girl is of normal height and has only a mild developmental delay. Additionally, she has dyslalia and premature adrenarch...

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Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)

American Journal of Medical Genetics Part A — Tue, 07 Feb 2012 05:00:00 +0100

AbstractHyperphosphatasia with neurologic deficit (Mabry syndrome) was first described in a single family (OMIM#239300) by Mabry et al. [1970]. Although considered rare at the time, more than 20 individuals with the triad of developmental disability, seizures, and hyperphosphatasia have been identified world‐wide. The 1‐6 mannosyltransferase 2, phosphatidylinositol glycan V (PIGV) gene has been found to be disrupted in some patients with the additional feature of brachytelephalangy. In the present report we identify three patients compound homozygous for PIGV mutations. Two siblings were found to be compound heterozygotes for c.467G > A and c.494C > A in exon 3 of PIGV (the c.494C > A PIGV variant is novel). A third patient with similar phenotype, was a compound he...

The omega‐6 fatty acid linoleic acid is associated with risk of gastroschisis: A novel dietary risk factor

American Journal of Medical Genetics Part A — Tue, 07 Feb 2012 05:00:00 +0100

AbstractGastroschisis is a congenital abdominal wall defect, thought by many to represent a disruption in intrauterine blood flow, where there is herniation of abdominal organs. Dietary intake is an important environmental factor that has been implicated in the development of many diseases. Omega‐6 polyunsaturated fatty acids (PUFAs) are nutrients that are substrates for eicosanoid and cytokine synthesis and prone to oxidation, and play a role in modulating inflammation, immune function, and vascular system development. This pilot case‐control study explored the association of dietary intake of the omega‐6 PUFA linoleic acid with risk of gastroschisis. Between 2008 and 2011, we recruited 13 pregnant women in mid‐gestation who were referred to the UCSD Prenatal Center for evaluation...

Array CGH on unstimulated blood does not detect all cases of Pallister–Killian syndrome: A skin biopsy should remain the diagnostic gold standard

American Journal of Medical Genetics Part A — Tue, 07 Feb 2012 05:00:00 +0100

AbstractA child whose features are consistent with Pallister–Killian syndrome (PKS) did not have detectable tetrasomy 12p due to an additional isochromosome 12p in an unstimulated blood specimen by interphase FISH or array CGH analysis. The diagnosis of PKS was made through these methods solely in a skin biopsy specimen. To determine the sensitivity of our array CGH platform to tetrasomy 12p mosaicism, dilutions of DNA from both the child's skin fibroblasts and a PKS cell line were analyzed. Tetrasomy 12p at 10% mosaicism was identifiable but 5% was below the limit of detection. This result suggests through extrapolation that the tetrasomy 12p is present in <10% of cells in our patient's blood, confirming the tissue‐limited mosaicism of PKS. Multiple recent studies show that array C...

Use and non‐use of genetic counseling after diagnosis of a birth defect

American Journal of Medical Genetics Part A — Tue, 07 Feb 2012 05:00:00 +0100

This study indicates that parents, whose child has been diagnosed with a birth defect, could benefit from being informed about available genetic counseling services. The results show that some non‐users of genetics services may have misconceptions about the purpose of genetic counseling and correcting these may increase utilization. This is important in order to ensure all parents receive sufficient information and support after diagnosis of a birth defect in their child. © 2012 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part A)

Further characterization of Shwachman–Diamond syndrome: Psychological functioning and quality of life in adult and young patients

American Journal of Medical Genetics Part A — Tue, 07 Feb 2012 05:00:00 +0100

AbstractTo assess psychosocial functioning and quality of life in a representative group of adult and young patients with Shwachman–Diamond syndrome (SDS), all patients 3 years old and over included in the Italian SDS Registry were investigated using an ad‐hoc questionnaire for information about demography, education, socialization, rehabilitation therapy, and standardized questionnaires [SF‐36, Child Behavior Check‐List (CBCL)] for quality of life and behavior. Results were compared with those of a Cystic Fibrosis (CF) patient group, matched for age and sex. Eighty‐one percent of patients answered. All but one adult patient lived with their parents, 24% had independent income, and 57% had a driver's license. Different levels (from mild to severe) of cognitive impairment were rep...

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A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin

American Journal of Medical Genetics Part A — Tue, 07 Feb 2012 05:00:00 +0100

(Source: American Journal of Medical Genetics Part A)

Complex relationship between meiotic recombination frequency and autosomal synaptonemal complex length per cell in normal human males

American Journal of Medical Genetics Part A — Tue, 07 Feb 2012 05:00:00 +0100

AbstractAlthough the relationship between meiotic recombination frequency and synaptonemal complex (SC) length has been of interest for a long time, how recombination frequency is related to SC length has not been carefully explored. To address this question, we have measured the meiotic recombination frequency as represented by MLH1 foci in 889 pachytene spermatocytes and measured the length of 19,558 autosomal SCs from 10 human males. A complex relationship between the number of MLH1 foci and total autosomal SC length per cell was observed. A positive correlation with significant correlation coefficients between the two variables was found in eight of the ten donors examined, with three donors showing weak correlation, and five showing moderate correlation. Two donors who did not show an...

Cellular models to investigate biochemical pathways in Parkinson’s disease

FEBS Journal — Tue, 07 Feb 2012 05:00:00 +0100

In conclusion, classical cellular models appear to be the right choice for preliminary studies on the molecular action of new drugs or potential toxins and to understand the role of single genetic factors. Moreover, the availability of novel cellular systems, such as cybrids or induced pluripotent stem cells (iPS), offers the chance to exploit the advantages of an in vitro investigation, though mirroring more closely the cell population being affected. (Source: FEBS Journal)

Prospectively assessed early life experiences in relation to cortisol reactivity in adolescents at risk for asthma

Developmental Psychobiology — Tue, 07 Feb 2012 05:00:00 +0100

This study supports a relationship between the parent child relationship during the first 2 years of life and later cortisol response to stress in youth at genetic risk for asthma. © 2012 Wiley Periodicals, Inc. Dev Psychobiol (Source: Developmental Psychobiology)

Human cerebral malaria and Plasmodium falciparum genotypes in Malawi

Malaria Journal — Tue, 07 Feb 2012 05:00:00 +0100

An interesting study confirming that the parasite genetic complexity is lower in cerebral malaria than in patients with non-complicated malaria. In their study, the authors found that cerebral malaria patients harbour a parasite population dominated by a single variant identical throughout the blood and organs. (Source: Malaria Journal)

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Role of Molecular Genetics in Hemophilia: From Diagnosis to Therapy

Seminars in Thrombosis and Hemostasis — Tue, 07 Feb 2012 05:00:00 +0100

This article reviews the applications of molecular genetics in hemophilia, in general, and how such techniques can be useful for optimizing patient care, in particular.[...]Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.Article in Thieme eJournals:Table of contents | Abstract | Full text (Source: Seminars in Thrombosis and Hemostasis)

Venous malformations of the temporal bone are a common feature in CHARGE syndrome

The Laryngoscope — Tue, 07 Feb 2012 05:00:00 +0100

Conclusions:Temporal bone venous abnormalities are a common feature in CHARGE syndrome. The pattern of venous abnormality suggests that there is a failure of the sigmoid sinus/jugular bulb to fully develop, resulting in persistence of emissary veins. Recognition of these abnormal venous structures during otologic surgery is critical to avoiding potentially catastrophic bleeding. (Source: The Laryngoscope)

Type 2 diabetes mellitus in a patient with malignant insulinoma manifesting following surgery

Diabetic Medicine — Tue, 07 Feb 2012 05:00:00 +0100

Conclusions: Although this is a rare condition, clinicians should bear in mind that insulinomas may exist together with diabetes mellitus, and it is important to have this suspicion when considering the perioperative approach and for the prevention of morbidities.© 2012 The Authors. Diabetic Medicine © 2012 Diabetes UK (Source: Diabetic Medicine)

Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis

The Pharmacogenomics Journal — Tue, 07 Feb 2012 05:00:00 +0100

Authors: M Man, S L Close, A D Shaw, G R Bernard, I S Douglas, R J Kaner, D Payen, J-L Vincent, S Fossceco, J M Janes, A G Leishman, L O'Brien, M D Williams & J G N Garcia (Source: The Pharmacogenomics Journal)

Genetic association study between antipsychotic-induced weight gain and the melanocortin-4 receptor gene

The Pharmacogenomics Journal — Tue, 07 Feb 2012 05:00:00 +0100

Authors: N I Chowdhury, A K Tiwari, R P Souza, C C Zai, S A Shaikh, S Chen, F Liu, J A Lieberman, H Y Meltzer, A K Malhotra, J L Kennedy & D J Müller (Source: The Pharmacogenomics Journal)

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Genome-Wide Association Study of Classical Hodgkin Lymphoma and Epstein-Barr Virus Status-Defined Subgroups

JNCI — Tue, 07 Feb 2012 05:00:00 +0100

Conclusion Overall, these results provide strong evidence that EBV status is an etiologically important classification of cHL and also suggest that some components of the pathological process are common to both EBV-positive and EBV-negative patients. (Source: JNCI)

Genetic Discoveries Propagate New Epigenetic Drugs

JNCI — Tue, 07 Feb 2012 05:00:00 +0100

(Source: JNCI)

Breast cancer risk prediction and individualised screening based on common genetic variation and breast density measurement

Breast Cancer Research — Tue, 07 Feb 2012 05:00:00 +0100

Conclusions: Taken together, genetic risk factors and mammographic density offer moderate improvements to clinical risk factor models for predicting breast cancer. (Source: Breast Cancer Research)

Treatment for tuberculosis can be guided by patients' genetics

EurekAlert! - Medicine and Health — Tue, 07 Feb 2012 05:00:00 +0100

(University of Washington) Determining TB treatment based on a patient's sequence at gene called LTA4H could improve outcomes. This gene controls the balance between pro-inflammatory and anti-inflammatory substances produced during an infection. Mutations leading to a tilt in either direction increases TB severity. Drugs helpful for a hot responder could be ineffective for cool responders. (Source: EurekAlert! - Medicine and Health)

Cutting-edge MRI techniques for studying communication within the brain

EurekAlert! - Medicine and Health — Tue, 07 Feb 2012 05:00:00 +0100

(Mary Ann Liebert, Inc./Genetic Engineering News) Innovative magnetic resonance imaging techniques that can measure changes in the microstructure of the white matter likely to affect brain function and the ability of different regions of the brain to communicate are presented in an article in the groundbreaking new neuroscience journal Brain Connectivity, a bimonthly peer-reviewed publication from Mary Ann Liebert Inc. (Source: EurekAlert! - Medicine and Health)

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New study shows Facebook use elevates mood

EurekAlert! - Social and Behavioral Science — Tue, 07 Feb 2012 05:00:00 +0100

(Mary Ann Liebert, Inc./Genetic Engineering News) People visit social networking sites such as Facebook for many reasons, including the positive emotional experience that people enjoy and want to repeat, according to an article in Cyberpsychology, Behavior, and Social Networking, a peer-reviewed journal published by Mary Ann Liebert Inc. (Source: EurekAlert! - Social and Behavioral Science)

The acute effects of kava and oxazepam on anxiety, mood, neurocognition; and genetic correlates: a randomized, placebo‐controlled, double‐blind study

Human Psychopharmacology: Clinical and Experimental — Tue, 07 Feb 2012 05:00:00 +0100

ConclusionAcute “medicinal level” doses of this particular kava cultivar in naive users do not provide anxiolytic activity, although the phytomedicine also appears to have no negative effects on cognition. Copyright © 2012 John Wiley & Sons, Ltd. (Source: Human Psychopharmacology: Clinical and Experimental)

A gene variant of 11β-hydroxysteroid dehydrogenase type 1 is associated with obesity in children

International Journal of Obesity — Tue, 07 Feb 2012 05:00:00 +0100

A gene variant of 11β-hydroxysteroid dehydrogenase type 1 is associated with obesity in children International Journal of Obesity advance online publication, February 7, 2012. doi:10.1038/ijo.2012.4 Authors: J Olza, M Gil-Campos, R Leis, A I Rupérez, R Tojo, R Cañete, A Gil & C M Aguilera (Source: International Journal of Obesity)

EASL publishes first European Clinical Practice Guidelines for Wilson's disease

EurekAlert! - Medicine and Health — Tue, 07 Feb 2012 05:00:00 +0100

(European Association for the Study of the Liver) The first European Clinical Practice Guidelines for the diagnosis and management of Wilson's disease are published today by the European Association for the Study of the Liver. Developed to assist physicians and health-care providers in the clinical decision making process, the guidelines describe best practice for the diagnosis and treatment of patients with Wilson's disease -- a rare genetic disorder that, if left untreated, is fatal. (Source: EurekAlert! - Medicine and Health)

Genomic Health's Randy Scott to lead new genetics subsidiary

bizjournals.com Health Care:Hospitals headlines — Mon, 06 Feb 2012 22:57:34 +0100

Longtime Genomic Health Inc. executive Randy Scott is leaving the company — sort of. Scott, most recently executive chairman of Genomic Health (NASDAQ: GHDX), will become CEO of a wholly-owned Genomic Health subsidiary that will focus on medical applications of the human genome. He will continue to serve on the board of the Redwood City-based cancer diagnostic test developer. Genomic Health initially will fund the company with $20 million over two years. The company will be established March 1 and provide its first commercial service in 2013, according to a Genomic Health press release... (Source: bizjournals.com Health Care:Hospitals headlines)

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GENOCOP algorithm and hierarchical grid transformation for image warping of two dimensional gel eletrophoretic maps

RSC - Mol. BioSyst. latest articles — Mon, 06 Feb 2012 21:20:53 +0100

Mol. BioSyst., 2012, Advance ArticleDOI: 10.1039/C2MB05396A, PaperEmilio Marengo, Marina Cocchi, Marco Demartini, Elisa Robotti, Daniela Cecconi, Giorgio CalabreseHierarchical grid transformation is a powerful approach to SDS 2DPAGE maps warping. The numerical optimization of the warping procedure is a multivariate task that can be solved efficiently using Genetic algorithms for Numerical Optimization in COnstrained Problems (GENOCOP).To cite this article before page numbers are assigned, use the DOI form of citation above.The content of this RSS Feed (c) The Royal Society of Chemistry (Source: RSC - Mol. BioSyst. latest articles)

Genetic screens for the control of influenza virus replication: from meta-analysis to drug discovery

RSC - Mol. BioSyst. latest articles — Mon, 06 Feb 2012 21:20:53 +0100

Mol. BioSyst., 2012, Advance ArticleDOI: 10.1039/C2MB05416G, PaperBenoit de Chassey, Laurene Meyniel-Schicklin, Anne Aublin-Gex, Patrice Andre, Vincent LotteauIntegration of genetic screens and protein interaction data provides a rationale to identify drug candidates against influenza virus.To cite this article before page numbers are assigned, use the DOI form of citation above.The content of this RSS Feed (c) The Royal Society of Chemistry (Source: RSC - Mol. BioSyst. latest articles)

Examination of Factors Affecting Adverse Reactions and Dosage Reduction in UGT1A1 Genotyped Patients: A Retrospective Survey of Irinotecan.

Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan — Mon, 06 Feb 2012 21:06:03 +0100

Authors: Okazaki K, Watanabe T, Saito I, Murayama J Abstract Our aim was to clarify the side effects of irinotecan which occurred in patients admitted to Showa University Hospital to investigate whether the UGT1A1 genetic polymorphism status was reflected in the discontinuation or dose reduction of irinotecan. We retrospectively investigated UGT1A1 genetic polymorphisms, irinotecan dosage, dose discontinuance or reduction, and laboratory results from May 1 2009 to April 30 2010. The analysis of UGT1A1 genetic polymorphisms in 23 patients showed that frequencies of the UGT1A1*6 and UGT1A1*28 polymorphisms were 35% (eight patients) and 22% (five patients), respectively, and 17% (three patients) were UGT1A1*6/UGT1A1*28 compound heterozygotes. Of all patients who received irinotecan, d...

Genotype Distributions and Allele Frequencies of Possible Major Depressive Disorder-Associated Single Nucleotide Polymorphisms, Cyclic Adenosine Monophosphate Response Element Binding Protein 1 rs4675690 and Piccolo rs2522833, in a Japanese Population.

Biological and Pharmaceutical Bulletin — Mon, 06 Feb 2012 19:48:04 +0100

Authors: Inoue K, Ando N, Suzuki E, Hayashi H, Tsuji D, Itoh K Abstract It is known that the onset of major depressive disorder (MDD) would be associated with genetic factors. To investigate the susceptibility to psychiatric disorders, e.g. MDD, schizophrenia etc., it is necessary to compare the genetic differences of objective polymorphisms between in patients and in relative contol subjects. Recently, an increasing number of studies focused on the role of cyclic adenosine monophosphate response element binding protein 1 (CREB1) and Piccolo (PCLO) on MDD. However, there was no report about genetic characterization of polymorphisms in between MDD patients and healthy subjects in Japanese population. We analized genotype distributions and allele frequencies of CREB1 rs4675690 and PC...

Effects of RS9939609 Gene Variant in FTO Gene on Weight Loss and Cardiovascular Risk Factors After Biliopancreatic Diversion Surgery

Journal of Gastrointestinal Surgery — Mon, 06 Feb 2012 19:36:51 +0100

Conclusion Our study showed a higher initial weight loss at 3 months after the TT variant of FTO gene (rs9939609). However, the weight loss at 9 and 12 months of BPD was similar in both genotypes with a significant improvement in biochemical parameters and cardiovascular comorbidities. Content Type Journal ArticleCategory Original ArticlePages 1-5DOI 10.1007/s11605-012-1829-2Authors Daniel Antonio de Luis, Institute of Endocrinology and Nutrition, Medicine School and Unit of Investigation. Hospital Rio Hortega, University of Valladolid, Valladolid, SpainRocío Aller, Institute of Endocrinology and Nutrition, Medicine School and Unit of Investigation. Hospital Rio Hortega, University of Valladolid, Valladolid, SpainRosa Conde, Institute of Endocrinology and ...

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Pulmonary alveolar microlithiasis: a case report and review of the literature

European Journal of Pediatrics — Mon, 06 Feb 2012 19:36:45 +0100

Abstract A 12-year-old girl of Turkish descent was referred 6 weeks after an influenza A infection because of persistent chest X-ray abnormalities compatible with interstitial lung disease. The clinically suspected diagnosis of pulmonary alveolar microlithiasis (PAM) supported by pathognomonic radiological abnormalities was confirmed by genetic analysis. The clinical presentation of PAM is illustrated by a case and review of the current literature on this subject: you only see what you know. Content Type Journal ArticleCategory Original ArticlePages 1-4DOI 10.1007/s00431-012-1678-8Authors M. Proesmans, Department of Pediatrics, University Hospital Leuven, Herestraat 49, 3000 Leuven, BelgiumM. Boon, Department of Pediatrics, University Hospital Leuven, Herestraat 4...

Identification of a new Bombyx mori nucleopolyhedrovirus and analysis of its bro gene family

Virus Genes — Mon, 06 Feb 2012 19:34:29 +0100

In this study, we isolated a new BmNPV strain from Thailand (BmNPV-Thai), based on the sequences of its conservative genes p10, p35, polh, egt and vp39. The BmNPV-Thai appears to have baculovirus repeated ORF (bro) genes different from four other well-known BmNPV strains of China (GD, CQ1), Japan (T3), and France (SC7); It only has bro-a, bro-c, and bro-d, but not bro-b and bro-e genes. These bro genes are localized only in the two subgroups highly homologous to their counterparts and their encoded BRO proteins differ mainly at their N-terminal amino acid residues. Phylogenetic analysis indicates that the evolution of the bro genes of the five BmNPV strains is not obviously associated with their geographic locations. Content Type Journal ArticlePages 1-9DOI 10.1007/s11262-012-0721-1...

Mutation linked to 42% rise in stroke risk

NHS News Feed — Mon, 06 Feb 2012 16:45:00 +0100

Conclusion In this study, researchers have identified a genetic variant in the HDAC9 gene that is associated with a subtype of ischaemic stroke called a large vessel stroke. Large vessel strokes occur when one or more of the arteries supplying blood to the brain become blocked. In this type of study, the genetic variants identified as being associated with a condition are not necessarily the cause of the increase in risk. Instead, they may lie near another variant that is responsible for the effect. In order to unlock the role of the HDAC9 gene, researchers will now need to study it and the region surrounding it more closely, both to confirm whether the variation in this gene is responsible for the increase in stroke risk and, if so, how it has this effect. Genetic, medical and lifestyle f...

Valuing the economic benefits of complex interventions: when maximising health is not sufficient

Health Economics — Mon, 06 Feb 2012 14:42:10 +0100

ABSTRACTComplex interventions, involving interlinked packages of care, challenge the application of current methods of economic evaluation that focus on measuring only health gain. Complex interventions may be problematic on two levels. The complexity means the intervention may not fit into one of the current appraisal systems, and/or maximising health is not the only objective. This paper discusses the implications of a programme of work that focused on clinical genetics services, as an example of a complex intervention, and aimed to identify the following: the attributes that comprise both health and non‐health aspects of benefits and whether it is possible to evaluate such an intervention using current National Institute for Health and Clinical Excellence appraisal processes. Genetic ...

A Teething Problem: Artefactual X-Ray Appearances of Odontoid Fracture due to Superimposed Incisor

Comparative and Functional Genomics — Mon, 06 Feb 2012 14:15:44 +0100

We report a case of artefactual C2 fracture caused by a superimposed incisor tooth in a seven-year-old boy. CT refuted the diagnosis. Trauma clinicians should be aware of this entity to guide correct interpretation of trauma X-rays. (Source: Comparative and Functional Genomics)

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Nonoscillatory Solutions of Second-Order Superlinear Dynamic Equations with Integrable Coefficients

Comparative and Functional Genomics — Mon, 06 Feb 2012 14:15:44 +0100

The asymptotic behavior of nonoscillatory solutions of the superlinear dynamic equation on time scales (r(t)xΔ(t))Δ+p(t)|x(σ(t))|γsgnx(σ(t))=0, γ>1, is discussed under the condition that P(t)=limτ→∞∫tτp(s)Δs exists and P(t)≥0 for large t. (Source: Comparative and Functional Genomics)

On q-Gevrey Asymptotics for Singularly Perturbed q-Difference-Differential Problems with an Irregular Singularity

Comparative and Functional Genomics — Mon, 06 Feb 2012 14:15:44 +0100

We study a q-analog of a singularly perturbed Cauchy problem with irregular singularity in the complex domain which generalizes a previous result by Malek in (2011). First, we construct solutions defined in open q-spirals to the origin. By means of a q-Gevrey version of Malgrange-Sibuya theorem we show the existence of a formal power series in the perturbation parameter which turns out to be the q-Gevrey asymptotic expansion (of certain type) of the actual solutions. (Source: Comparative and Functional Genomics)

Serum IL-18 Is Closely Associated with Renal Tubulointerstitial Injury and Predicts Renal Prognosis in IgA Nephropathy

Comparative and Functional Genomics — Mon, 06 Feb 2012 14:15:44 +0100

Background. IgA nephropathy (IgAN) was thought to be benign but recently found it slowly progresses and leads to ESRD eventually. The aim of this research is to investigate the value of serum IL-18 level, a sensitive biomarker for proximal tubule injury, for assessing the histopathological severity and disease progression in IgAN. Methods. Serum IL-18 levels in 76 IgAN patients and 36 healthy blood donors were measured by ELISA. We evaluated percentage of global and segmental sclerosis (GSS) and extent of tubulointerstitial damage (TID). The correlations between serum IL-18 levels with clinical, histopathological features and renal prognosis were evaluated. Results. The patients were 38.85±10.95 years old, presented with 2.61 (1.43∼4.08) g/day proteinuria. Serum IL-18 level...

An Explicit Criterion for the Existence of Positive Solutions of the Linear Delayed Equation x˙(t)=−c(t)x(t−τ(t))

Comparative and Functional Genomics — Mon, 06 Feb 2012 14:15:44 +0100

The paper investigates an equation with single delay ẋ(t)=-c(t)x(t-τ(t)), where τ:[t0-r,∞)→(0,r], r>0, t0∈R, and c:[t0-r,∞)→(0,∞) are continuous functions, and the difference t-τ(t) is an increasing function. Its purpose is to derive a new explicit integral criterion for the existence of a positive solution in terms of c and τ. An overview of known relevant criteria is provided, and relevant comparisons are also given. (Source: Comparative and Functional Genomics)

Small Interference RNA Targeting TLR4 Gene Effectively Attenuates Pulmonary Inflammation in a Rat Model

Comparative and Functional Genomics — Mon, 06 Feb 2012 14:15:44 +0100

Conclusion. TLR4 plays a critical role in LPS-induced ALI, and transfection of Ad-siTLR4 can effectively downregulate TLR4 expression in vitro and in vivo, accompanied by alleviation of LPS-induced lung injury. These findings suggest that TLR4 may serve as a potential target in the treatment of ALI and RNA interfering targeting TLR4 expression represents a therapeutic strategy. (Source: Comparative and Functional Genomics)

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Sympathetic Blocks Provided Sustained Pain Relief in a Patient with Refractory Painful Diabetic Neuropathy

Comparative and Functional Genomics — Mon, 06 Feb 2012 14:15:44 +0100

The sympathetic nervous system has been implicated in pain associated with painful diabetic neuropathy. However, therapeutic intervention targeted at the sympathetic nervous system has not been established. We thus tested the hypothesis that sympathetic nerve blocks significantly reduce pain in a patient with painful diabetic neuropathy who has failed multiple pharmacological treatments. The diagnosis of small fiber sensory neuropathy was based on clinical presentations and confirmed by skin biopsies. A series of 9 lumbar sympathetic blocks over a 26-month period provided sustained pain relief in his legs. Additional thoracic paravertebral blocks further provided control of the pain in the trunk which can occasionally be seen in severe diabetic neuropathy cases, consequent to extensive inv...

Variations of the Game 3-Euclid

Comparative and Functional Genomics — Mon, 06 Feb 2012 14:15:44 +0100

We present two variations of the game 3-Euclid. The games involve a triplet of positive integers. Two players move alternately. In the first game, each move is to subtract a positive integer multiple of the smallest integer from one of the other integers as long as the result remains positive. In the second game, each move is to subtract a positive integer multiple of the smallest integer from the largest integer as long as the result remains positive. The player who makes the last move wins. We show that the two games have the same P-positions and positions of Sprague-Grundy value 1. We present three theorems on the periodicity of P-positions and positions of Sprague-Grundy value 1. We also obtain a theorem on the partition of Sprague-Grundy values for each game. In addition, we examine t...

The Impact of Blue Inorganic Pigments on the Microwave Electrical Properties of Polymer Composites

Comparative and Functional Genomics — Mon, 06 Feb 2012 14:15:44 +0100

We present the results of the measurement of complex dielectric permittivity, in the microwave frequency region, on glass reinforced polybutylene terephthalate (PBT) with blue inorganic pigments. The cavity resonant method had been used in order to measure the shift in the resonant frequency of the cavity, caused by the insertion of a sample, which can be related to the real part of the complex permittivity. Also, the quality factor of the cavity decreases with the insertion of a sample. The changes in the inverse of this quality factor give the imaginary part. In order to predict the dielectric behavior of this composite, we had developed a program of numerical simulation to calculate the complex permittivity of the inclusion. By using some of dielectric mixture laws (Maxwell-Wagner-Silla...

Astrobiological Field Campaign to a Volcanosedimentary Mars Analogue Methane Producing Subsurface Protected Ecosystem: Imuruk Lake (Alaska)

Comparative and Functional Genomics — Mon, 06 Feb 2012 14:15:44 +0100

Viking missions reported adverse conditions for life in Mars surface. High hydrogen signal obtained by Mars orbiters has increased the interest in subsurface prospection as putative protected Mars environment with life potential. Permafrost has attracted considerable interest from an astrobiological point of view due to the recently reported results from the Mars exploration rovers. Considerable studies have been developed on extreme ecosystems and permafrost in particular, to evaluate the possibility of life on Mars and to test specific automated life detection instruments for space missions. The biodiversity of permafrost located on the Bering Land Bridge National Preserve has been studied as an example of subsurface protected niche of astrobiological interest. Different conventional (en...

Mathematical Model of Hot Metal Desulfurization by Powder Injection

Comparative and Functional Genomics — Mon, 06 Feb 2012 14:15:44 +0100

Although there have been a numerous number of studies on mathematical model of hot metal desulfurization by deep injection of calcium carbide, the research field as a whole is not well integrated. This paper presents a model that takes into account the kinetics, thermodynamics, and transport processes to predict the sulfur levels in the hot metal throughout a blow. The model could be utilized to assess the influence of the treatment temperature, rate of injection, gas flow rate, and initial concentration of sulfur on the desulfurization kinetics. In the second part of this paper an analysis of the industrial data for injection of calcium carbide using this model is described. From a mathematical model that describes the characteristics of a system, it is possible to predict the behavior of...

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Gastroprotective Efficacy of Coenzyme Q10 in Indomethacin-Induced Gastropathy: Other Potential Mechanisms

Comparative and Functional Genomics — Mon, 06 Feb 2012 14:15:44 +0100

Tough recently the mitochondrial bioenergetic coenzyme (Co)Q10 has been shown to protect against indomethacin-induced gastric ulceration, yet the full mechanistic cassettes have not been investigated. Therefore, the current investigation assessed further gastroprotective mechanisms of CoQ10 using the indomethacin-induced gastropathy model. While CoQ10 was administered at 3 dose levels to male Wistar rats, the proton pump inhibitor, pantoprazole, was given at 4 dose levels ahead of pyloric ligation and indomethacin administration. Indomethacin evoked gastric ulcerations that were associated by decreased gastric mucosal nitric oxide and glutathione levels. The NSAID reduced gastric volume and mucin content, but increased titratable acidity, acid output, and peptic activity. CoQ10, especially...

Poor Homologous Synapsis 1 Interacts with Chromatin but Does Not Colocalise with ASYnapsis 1 during Early Meiosis in Bread Wheat

Comparative and Functional Genomics — Mon, 06 Feb 2012 14:15:44 +0100

Chromosome pairing, synapsis, and DNA recombination are three key processes that occur during early meiosis. A previous study of Poor Homologous Synapsis 1 (PHS1) in maize suggested that PHS1 has a role in coordinating these three processes. Here we report the isolation of wheat (Triticum aestivum) PHS1 (TaPHS1), and its expression profile during and after meiosis. While the TaPHS1 protein has sequence similarity to other plant PHS1/PHS1-like proteins, it also possesses a unique region of oligopeptide repeat units. We show that TaPHS1 interacts with both single- and double-stranded DNA in vitro and provide evidence of the protein region that imparts the DNA-binding ability. Immunolocalisation data from assays conducted using antisera raised against TaPHS1 show that TaPHS1 associates with c...

New genetic discovery could boost treatment for stroke patients

The Independent - Science — Mon, 06 Feb 2012 14:13:12 +0100

Scientists have identified a genetic mutation in one of the 23,000 human genes that can double the risk of a stroke, which kills more than six million people worldwide each year and is the second top cause of death in developed countries. (Source: The Independent - Science)

Epidermolysis bullosa simplex with mottled pigmentation.

Dermatol Online J — Mon, 06 Feb 2012 12:54:18 +0100

We report a case of a young child with this rare disorder and explain the genetic cause. PMID: 22301046 [PubMed - in process] (Source: Dermatol Online J)

Single genetic mutation can double your risk of stroke - but scientists hope it could lead to tailored treatments

the Mail online | Health — Mon, 06 Feb 2012 09:19:06 +0100

Researchers from Oxford University found the gene variant increased the risk of large artery ischemic strokes, which account for over a third of all cases. (Source: the Mail online | Health)

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Cause Of Metabolic Disease Identified By Whole Exome Sequencing

Health News from Medical News Today — Mon, 06 Feb 2012 09:00:00 +0100

Sequencing a patient's entire genome to discover the source of his or her disease is not routine - yet. But geneticists are getting close. A case report, published this week in the American Journal of Human Genetics, shows how researchers can combine a simple blood test with an "executive summary" scan of the genome to diagnose a type of severe metabolic disease. Researchers at Emory University School of Medicine and Sanford-Burnham Medical Research Institute used "whole-exome sequencing" to find the mutations causing a glycosylation disorder in a boy born in 2004... (Source: Health News from Medical News Today)

Controlling Gene Expression With New RNA-Based Therapeutic Strategies

Health News from Medical News Today — Mon, 06 Feb 2012 09:00:00 +0100

Small RNA-based nucleic acid drugs represent a promising new class of therapeutic agents for silencing abnormal or overactive disease-causing genes, and researchers have discovered new mechanisms by which RNA drugs can control gene activity. A comprehensive review article in Nucleic Acid Therapeutics, a peer-reviewed journal published by Mary Ann Liebert, Inc., details these advances. Short strands of nucleic acids, called small RNAs, can be used for targeted gene silencing, making them attractive drug candidates... (Source: Health News from Medical News Today)

Mountains of Hope Foundation hosts Cookin’ for a Cure at Eddie’s House

TGen News — Mon, 06 Feb 2012 08:00:00 +0100

Cookin’ for a Cure at Eddie’s House, hosted by the Marilyn B. Gula Mountains of Hope Foundation, will raise funds for advanced breast cancer research at... (Source: TGen News)

Gene Related To Fat Preferences In Humans Found

Health News from Medical News Today — Mon, 06 Feb 2012 08:00:00 +0100

A preference for fatty foods has a genetic basis, according to researchers, who discovered that people with certain forms of the CD36 gene may like high-fat foods more than those who have other forms of this gene. The results help explain why some people struggle when placed on a low-fat diet and may one day assist people in selecting diets that are easier for them to follow. The results also may help food developers create new low-fat foods that taste better. "Fat is universally palatable to humans," said Kathleen Keller, assistant professor of nutritional sciences, Penn State... (Source: Health News from Medical News Today)

Transcriptomic and proteomic analyses of the Aspergillus fumigatus hypoxia response using an oxygen-controlled fermenter

BMC Genomics - Latest articles — Mon, 06 Feb 2012 05:00:00 +0100

Conclusions: Taken together, our data suggest a robust cellular response that is likely regulated both at the transcriptional and post-transcriptional level in response to hypoxia by the human pathogenic mold A. fumigatus. As with other pathogenic fungi, the induction of glycolysis and transcriptional down-regulation of the TCA cycle and oxidative phosphorylation appear to major components of the hypoxia response in this pathogenic mold. In addition, a significant induction of the transcripts involved in ergosterol biosynthesis is consistent with previous observations in the pathogenic yeasts Candida albicans and Cryptococcus neoformans indicating conservation of this response to hypoxia in pathogenic fungi. Because ergosterol biosynthesis enzymes also require iron as a co-factor, the incr...

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Weighted selective collapsing strategy for detecting rare and common variants in genetic association study

BMC Genetics - Latest articles — Mon, 06 Feb 2012 05:00:00 +0100

Conclusions: Two tests using a weighted selective collapsing strategy provide potentially powerful methods for association studies of sequencing data. The tests have a higher power when both common and rare variants contribute to the heritable variability and the effect of common variants is not strong enough to be detected by traditional methods. Our simulation studies have demonstrated a substantially higher power for both tests in all scenarios regardless whether the common SNPs are associated with the trait or not. (Source: BMC Genetics - Latest articles)

Temporal shifts in the skin microbiome associated with atopic dermatitis disease flares and treatment [RESEARCH]

Genome Research — Mon, 06 Feb 2012 05:00:00 +0100

Atopic dermatitis (AD) has long been associated with Staphylococcus aureus skin colonization or infection and is typically managed with regimens that include antimicrobial therapies. However, the role of microbial communities in the pathogenesis of AD is incompletely characterized. To assess the relationship between skin microbiota and disease progression, 16S ribosomal RNA bacterial gene sequencing was performed on DNA obtained directly from serial skin sampling of children with AD. The composition of bacterial communities was analyzed during AD disease states to identify characteristics associated with AD flares and improvement post-treatment. We found that microbial community structures at sites of disease predilection were dramatically different in AD patients compared with controls. M...

Adenosine deaminases that act on RNA induce reproducible changes in abundance and sequence of embryonic miRNAs [RESEARCH]

Genome Research — Mon, 06 Feb 2012 05:00:00 +0100

Adenosine deaminases that act on RNA bind double-stranded and structured RNAs and convert adenosines to inosines by hydrolytic deamination. Inosines are recognized as guanosines and hence, RNA editing alters the sequence information but also structure of RNAs. Editing by ADARs is widespread and essential for normal life and development. Precursors of miRNAs are abundantly edited by ADARs but neither the abundance nor the consequences of miRNA editing has been firmly established. Using transgenic mouse embryos that are deficient in the two enzymatically active editing enzymes ADAR1 and ADAR2 we compare relative frequencies but also sequence composition of miRNAs in these genetically modified backgrounds to wild-type mice by next gen sequencing. Deficiency of ADAR2 leads to a reproducible ch...

Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers

Journal of Internal Medicine — Mon, 06 Feb 2012 05:00:00 +0100

AbstractPathogenic mutations in the tumour suppressor genes BRCA1 and BRCA2 confer increased risks for breast and ovarian cancer and account for approximately 15% of the excess familial risk of breast cancer among first degree relatives of breast cancer patients. There is considerable evidence indicating that these risks vary by other genetic and environmental factors clustering in families. In the past few years, based on the availability of genome‐wide association data and samples form large collaborative studies, several common alleles have been found to modify breast or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. These common alleles explain a small proportion of the genetic variability in breast or ovarian cancer risk for mutation carriers, suggesting more modifiers r...

Resolving the Variable Genome and Epigenome in Human Disease

Journal of Internal Medicine — Mon, 06 Feb 2012 05:00:00 +0100

AbstractThe individual human genome and epigenome are being defined at unprecedented resolution by current advances in sequencing technologies with important implications for human disease. This review uses examples relevant to clinical practice to illustrate the functional consequences of genetic and epigenetic variation. The insights gained from genome‐wide association studies are described together with current efforts to understand the role of rare variants in common disease, set in the context of recent successes in Mendelian traits through application of whole exome sequencing. The application of functional genomics to interrogate the genome and epigenome, build up an integrated picture of the regulatory genomic landscape and inform disease association studies is discussed, togethe...

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Role of common genetic variants in ovarian cancer susceptibility and outcome: progress to date from the ovarian cancer association consortium (OCAC)

Journal of Internal Medicine — Mon, 06 Feb 2012 05:00:00 +0100

AbstractIn this article, we review the current knowledge of the inherited genetics of epithelial ovarian cancer (EOC) susceptibility and clinical outcome. We focus on recent developments in identifying low‐penetrance susceptibility genes and the role of the ovarian cancer association consortium (OCAC) in these discoveries. The ovarian cancer association consortium (OCAC) was established to facilitate large‐scale replication analyses for reported genetic associations for EOC. Since its inception, the OCAC has conducted both candidate gene and genome wide association studies (GWAS); the latter has identified six established loci for EOC susceptibility most of which showed stronger association with the serous histological subtype. Future GWAS and sequencing studies are likely to result in...

Genetic Variants Associated With Predisposition to Prostate Cancer and Potential Clinical Implications

Journal of Internal Medicine — Mon, 06 Feb 2012 05:00:00 +0100

AbstractProstate cancer is the commonest cancer in the developed world. There is an inherited component to this disease as shown in familial and twin studies. However, the discovery of these variants has been difficult. The emergence of genome‐wide association studies (GWAS) has led to the identification of over 46 susceptibility loci. Their clinical utility to predict risk, response to treatment, or treatment toxicity, remains undefined. Large consortia are needed to achieve adequate statistical power to answer these genetic‐clinical and genetic‐epidemiological questions. International collaborations are currently underway to link genetic with clinical/epidemiological data to develop risk prediction models, which could direct screening and treatment programs. (Source: Journal of Int...

IRF5 haplotypes demonstrate diverse serological associations which predict serum interferon alpha activity and explain the majority of the genetic association with systemic lupus erythematosus

Annals of the Rheumatic Diseases — Mon, 06 Feb 2012 05:00:00 +0100

Conclusions The authors define a novel risk haplotype of IRF5 that is associated with anti-dsDNA antibodies and show that risk of SLE due to IRF5 genotype is largely dependent upon particular auto-antibodies. This suggests that auto-antibodies are directly pathogenic in human SLE, resulting in increased IFNα in cooperation with particular combinations of IRF5 functional genetic elements. SLE is a systemic autoimmune disorder affecting multiple organ systems including the skin, musculoskeletal, renal and haematopoietic systems. Humoral autoimmunity is a hallmark of SLE, and patients frequently have circulating auto-antibodies directed against dsDNA, as well as RNA binding proteins (RBP). Anti-RBP autoantibodies include antibodies which recognize Ro, La, Smith (anti-Sm), and ribonucleo...

Identification of essential and non-essential single-stranded DNA-binding proteins in a model archaeal organism

Nucleic Acids Research — Mon, 06 Feb 2012 05:00:00 +0100

Single-stranded DNA-binding proteins (SSBs) play vital roles in all aspects of DNA metabolism in all three domains of life and are characterized by the presence of one or more OB fold ssDNA-binding domains. Here, using the genetically tractable euryarchaeon Haloferax volcanii as a model, we present the first genetic analysis of SSB function in the archaea. We show that genes encoding the OB fold and zinc finger-containing RpaA1 and RpaB1 proteins are individually non-essential for cell viability but share an essential function, whereas the gene encoding the triple OB fold RpaC protein is essential. Loss of RpaC function can however be rescued by elevated expression of RpaB, indicative of functional overlap between the two classes of haloarchaeal SSB. Deletion analysis is used to demonstrat...

Topological constraints impair RNA polymerase II transcription and causes instability of plasmid-borne convergent genes

Nucleic Acids Research — Mon, 06 Feb 2012 05:00:00 +0100

Despite the theoretical bases for the association of topoisomerases and supercoiling changes with transcription and replication, our knowledge of the impact of topological constraints on transcription and replication is incomplete. Although mutation of topoisomerases affects expression and stability of the rDNA region it is not clear whether the same is the case for RNAPII transcription and genome integrity in other regions. We developed new assays in which two convergent RNAPII-driven genes are transcribed simultaneously. Plasmid-based systems were constructed with and without a transcription terminator between the two convergent transcription units, so that the impact of transcription interference could also be evaluated. Using these assays we show that Topos I and II play roles in RNAPI...

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Tight cooperation between Mot1p and NC2{beta} in regulating genome-wide transcription, repression of transcription following heat shock induction and genetic interaction with SAGA

Nucleic Acids Research — Mon, 06 Feb 2012 05:00:00 +0100

TATA-binding protein (TBP) is central to the regulation of eukaryotic transcription initiation. Recruitment of TBP to target genes can be positively regulated by one of two basal transcription factor complexes: SAGA or TFIID. Negative regulation of TBP promoter association can be performed by Mot1p or the NC2 complex. Recent evidence suggests that Mot1p, NC2 and TBP form a DNA-dependent protein complex. Here, we compare the functions of Mot1p and NC2βduring basal and activated transcription using the anchor-away technique for conditional nuclear depletion. Genome-wide expression analysis indicates that both proteins regulate a highly similar set of genes. Upregulated genes were enriched for SAGA occupancy, while downregulated genes preferred TFIID binding. Mot1p and NC2β depletio...

Isolation of homozygous mutant mouse embryonic stem cells using a dual selection system

Nucleic Acids Research — Mon, 06 Feb 2012 05:00:00 +0100

Obtaining random homozygous mutants in mammalian cells for forward genetic studies has always been problematic due to the diploid genome. With one mutation per cell, only one allele of an autosomal gene can be disrupted, and the resulting heterozygous mutant is unlikely to display a phenotype. In cells with a genetic background deficient for the Bloom's syndrome helicase, such heterozygous mutants segregate homozygous daughter cells at a low frequency due to an elevated rate of crossover following mitotic recombination between homologous chromosomes. We constructed DNA vectors that are selectable based on their copy number and used these to isolate these rare homozygous mutant cells independent of their phenotype. We use the piggyBac transposon to limit the initial mutagenesis to one copy ...

A versatile element for gene addition in bacterial chromosomes

Nucleic Acids Research — Mon, 06 Feb 2012 05:00:00 +0100

The increasing interest in genetic manipulation of bacterial host metabolic pathways for protein or small molecule production has led to a need to add new genes to a chromosome quickly and easily without leaving behind a selectable marker. The present report describes a vector and four-day procedure that enable site-specific chromosomal insertion of cloned genes in a context insulated from external transcription, usable once in a construction series. The use of rhamnose-inducible transcription from rhaBp allows regulation of the inserted genes independently of the commonly used IPTG and arabinose strategies. Using lacZ as a reporter, we first show that expression from the rhamnose promoter is tightly regulatable, exhibiting very low leakage of background expression compared with background...

Introduction to Special Issue on Capuchin Evolution: Comparing Behavior, Morphology, and Genetics across Species

American Journal of Primatology — Mon, 06 Feb 2012 05:00:00 +0100

(Source: American Journal of Primatology)

MedWorm: Genetics

Diversity of Cellulolytic Microbes and the Biodegradation of Municipal Solid Waste by a Potential Strain

Controversies in using urine samples for prostate cancer detection: PSA and PCA3 expression analysis

Reprogramming of prostate cancer‐associated stromal cells to embryonic stem‐like

Genetic Sequencing Of Patients To Guide Treatment For Tuberculosis

First European Clinical Practice Guidelines For Wilson's Disease Published By EASL

Genetic Screening and Counseling: Family Medicine Obstetrics

Heart Disease Risk May Be Tied to Y Chromosome

Potent antitumor activity of oncolytic adenovirus-mediated SOCS1 for hepatocellular carcinoma

Zinc-finger nucleases: looking toward translation

Progress in gene therapy of dystrophic heart disease

Combination gene therapy targeting on interleukin-1β and RANKL for wear debris-induced aseptic loosening

Phylogeny of Galactolipid Synthase Homologs Together with their Enzymatic Analyses Revealed a Possible Origin and Divergence Time for Photosynthetic Membrane Biogenesis

Preferential Nucleosome Occupancy at High Values of DNA Helical Rise

Identification of Substrain-Specific Mutations by Massively Parallel Whole-Genome Resequencing of Synechocystis sp. PCC 6803

Diversity Array Technology Markers: Genetic Diversity Analyses and Linkage Map Construction in Rapeseed (Brassica napus L.)

Identification of Cis-Acting Promoter Elements in Cold- and Dehydration-Induced Transcriptional Pathways in Arabidopsis, Rice, and Soybean

Discovery and mapping of a new expressed sequence tag-single nucleotide polymorphism and simple sequence repeat panel for large-scale genetic studies and breeding of Theobroma cacao L.

Mobilizing the Genome of Lepidoptera through Novel Sequence Gains and End Creation by Non-autonomous Lep1 Helitrons

Assembly, Gene Annotation and Marker Development Using 454 Floral Transcriptome Sequences in Ziziphus Celata (Rhamnaceae), a Highly Endangered, Florida Endemic Plant

Role of transcriptional and post‐transcriptional regulation of methionine adenosyltransferases in liver cancer progression

Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes

Hyaluronic Acid Enhances Gene Delivery into the Cochlea

Heart disease risk 'inherited'

Affymetrix stock down 10% after hours on Q4 earnings

Lab-Made Neurons Allow Scientists To Study A Genetic Cause Of Parkinson's

Energy-Efficient Multi-Job Scheduling Model for Cloud Computing and Its Genetic Algorithm

Self-Optimization of Pilot Power in Enterprise Femtocells Using Multi objective Heuristic

Hepatic Gene Transfer in Neonatal Mice by Adeno-Associated Virus Serotype 8 Vector

Consumers want tougher probe of engineered salmon

Isolation of Human Islets for Autologous Islet Transplantation in Children and Adolescents with Chronic Pancreatitis

Analysis of HLA‐DM polymorphisms in the Chinese Han population

Spoon-feeding compared with 'baby-led' weaning

Hope For Effective Endometriosis Screening Following Gene Mutation Discovery

Molecular Link Established Between Genetic Defect And Heart Malformation

Anthrax Susceptibility Varies Between Individuals

Parkinson's cells 'made in lab'

Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1

Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation

The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Characterization of the intronic portion of cadherin superfamily members, common cancer orchestrators

Permutation-based approaches do not adequately allow for linkage disequilibrium in gene-wide multi-locus association analysis

C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome

An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice

Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome

Retrotransposon Ty1 integration targets specifically positioned asymmetric nucleosomal DNA segments in tRNA hotspots [RESEARCH]

Cell-type-specific nuclei purification from whole animals for genome-wide expression and chromatin profiling [METHOD]

An ancient genomic regulatory block conserved across bilaterians and its dismantling in tetrapods by retrogene replacement [RESEARCH]

Drosophila Genetic Reference Panel bridges genotype-phenotype gap

Outgrowth of single oncogene-expressing cells from suppressive epithelial environments

Expression of tumour-specific antigens underlies cancer immunoediting

Functional dissection of lysine deacetylases reveals that HDAC1 and p300 regulate AMPK

The Drosophila melanogaster Genetic Reference Panel

Genetics: How intelligence changes with age

Functional genomics: The changes that count

Spinal cord trauma and the molecular point of no return

DQB1*0602 rather than DRB1*1501 confers susceptibility to multiple sclerosis-like disease induced by proteolipid protein (PLP)

Meeting Materials for the Neurological Devices Panel meeting to be held on 2/10/12

Extracellular matrix alterations in experimental Leishmania amazonensis infection in susceptible and resistant mice

Von Willebrand disease: Clinical and laboratory lessons learned from the large von Willebrand disease studies

Cyril Clarke and the prevention of rhesus haemolytic disease of the newborn

BioResearch Open Access launching in March 2012 from Mary Ann Liebert, Inc., publishers

Consumer groups want tougher probe of engineered salmon

Brain cells made in US lab open doors for Parkinson’s research

BMD Values and GSTM3 Gene Polymorphisms in Combination with GSTT1/GSTM1 Genes: A Genetic Association Study in Slovenian Elderly

Genetic Polymorphisms of FcγRIIa and FcγRIIIa Are Not Predictive of Clinical Outcomes after Cetuximab plus Irinotecan Chemotherapy in Patients with Metastatic Colorectal Cancer

Retargeting Vesicular Stomatitis Virus Using Measles Virus Envelope Glycoproteins

Genetically Engineered Transmissible Influenza A/H5N1: A Call for Laboratory Safety and Security

Guide for Authors

New Prostate Cancer Drug Target Identified

A Particular Breast Cancer Subtype May Respond To Drugs Targeting Chromosomal Instability

More Accurate Diagnosis Of Genetic Mutations Expected Using New Virtual Tool

Genetic Variant Increases Risk Of Common Type Stroke

Researchers Weigh Methods To More Accurately Measure Genome Sequencing

Parasites Or Not? Transposable Elements In Fruit Flies

Non-Invasive DNA Test That Identifies Down Syndrome In Pregnancy Can Also Detect Trisomy 18 And Trisomy 13

Patients within the broad holoprosencephaly spectrum have distinct and subtle ophthalmologic anomalies: Response to Khan

Unusual ribbon‐like periventricular heterotopia with congenital cataracts in a Japanese girl

Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D

DQB10602 rather than DRB11501 confers susceptibility to multiple sclerosis-like disease induced by proteolipid protein (PLP)