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A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Our results indicate that CNVs of the gene coding regions analyzed here are not a common molecular cause of Hirschsprung disease. However, further studies are required to determine the presence of CNVs affecting non-coding regulatory regions, as well as other candidate genes. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - November 19, 2009 Category: Genetics & Stem Cells Authors: Rocio Nunez-TorresRaquel FernandezManuel Lopez-AlonsoGuillermo AntinoloSalud Borrego Source Type: journals

Genetic variation in the NBS1, MRE11, RAD50 and BLM genes and susceptibility to non-Hodgkin lymphomaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: These results suggest an influence of RAD50 and NBS1 on susceptibility to diffuse large B-cell lymphoma and marginal zone lymphoma. Larger association and functional studies could confirm such a role. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - November 16, 2009 Category: Genetics & Stem Cells Authors: Johanna SchuetzAmy MacArthurStephen LeachAgnes LaiRichard GallagherJoseph ConnorsRandy GascoyneJohn SpinelliAngela Brooks-Wilson Source Type: journals

PIN1 gene variants in Alzheimer's diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Our data does not support the role of PIN1 common polymorphisms as AD risk factor. However, we suggest that the identified rare sequence variants could be directly connected with AD pathology, influencing PIN1 splicing and/or expression. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - November 12, 2009 Category: Genetics & Stem Cells Authors: Aleksandra MaruszakKrzysztof SafranowKatarzyna GustawBeata Kijanowska-HaladynaKatarzyna JakubowskaMaria OlszewskaMaria StyczynskaMariusz BerdynskiAndrzej TysarowskiDariusz ChlubekJanusz SiedleckiMaria BarcikowskaCezary Zekanowski Source Type: journals

Voltage-dependent anion channel (VDAC) is involved in apoptosis of cell lines carrying the mitochondrial DNA mutationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Background: The mitochondrial voltage-dependent anion channel (VDAC) is increasingly implicated in the control of apoptosis. We have studied the effects the mitochondrial DNA (mtDNA) tRNAIle mutation on VDAC expression, localization, and apoptosis. Methods: Lymphoblastoid cell lines were derived from 3 symptomatic and 1 asymptomatic members of a family with hypertension associated with the A4263G tRNAIle mutationas well as from control subjects. Mitochondrial potential and apoptosis were measured by flow cytometry; co-localization of VDAC and Bax was evaluated by confocal microscopy. Results: Expression of VDAC and Bax in ...
Source: BMC Medical Genetics - Latest articles - November 9, 2009 Category: Genetics & Stem Cells Authors: Liu YuqiLi YangLi ZongbinXu HuaWen YiWang LinGuan MinxinGao LeiWang Shiwen Source Type: journals

PLAUR polymorphisms and lung function in UK smokersEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Background: We have previously identified Urokinase Plasminogen Activator Receptor (PLAUR) as an asthma susceptibility gene. In the current study we tested the hypothesis that PLAUR single nucleotide polymorphisms (SNPs) determine baseline lung function and contribute to the development of Chronic Obstructive Pulmonary Disease (COPD) in smokers. Methods: 25 PLAUR SNPs were genotyped in COPD subjects and individuals with smoking history (n=992). Linear regression was used to determine the effects of polymorphism on baseline lung function (FEV1, FEV1/FVC) in all smokers. Genotype frequencies were compared in spirometry defin...
Source: BMC Medical Genetics - Latest articles - October 31, 2009 Category: Genetics & Stem Cells Authors: Ceri StewartIan HallStuart ParkerMiriam MoffattAndrew WardlawMartin ConnollyCharlotte RuseIan Sayers Source Type: journals

Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Putatively functional variants of APOA2, APOA5, APOC2, CETP, LPL, LIPC and SOAT2 are independent genetic determinants of plasma HDL-C levels. The non-synonymous S19W SNP in APOA5 is also an independent determinant of plasma apo A-I level, severity of coronary atherosclerosis and its progression. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - October 30, 2009 Category: Genetics & Stem Cells Authors: Suet Nee ChenMehmet CilingirogluJoshua ToddRaffaella LombardiJames WillersonAntonio GottoChristie BallantneA Marian Source Type: journals

Telomere shortening may be associated with human keloidsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Telomere shortening has been reported in several metabolic and cardiovascular diseases. We found that telomere shortening can also be associated with human keloids. Chronic oxidative stress plays a major role in the pathophysiology of several chronic inflammatory diseases. Here we found increased ROS generation in fibroblasts from keloid fibroblasts cell cultures when compared to normal skin fibroblasts. Hence we conclude that oxidative stress might be an important modulator of telomere loss in keloid because of the absence of active telomerase that counteracts telomere shortening. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - October 28, 2009 Category: Genetics & Stem Cells Authors: Bruna De FeliceRobert WilsonMassimo Nacca Source Type: journals

Variation in cytokine genes can contribute to severity of acetabular osteolysis and risk for revision in patients with ABG I total hip arthroplasty: a genetic association studyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Genetic variants of proinflammatory cytokines TNF-alpha and IL-6 confer susceptibility to severe OL. In this way, presence of the minor TNF allele could increase the cumulative risk of THA failure. Conversely, SNP in the IL2 gene may protect carriers from the above THA complications. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - October 27, 2009 Category: Genetics & Stem Cells Authors: Jiri GalloFrantisek MrazekMartin Petrek Source Type: journals

Suggestive linkage detected for blood pressure related traits on 2q and 22q in the population on the Samoan islandsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: We have detected additional evidence for a recently reported locus associated with SBP on chromosome 2q and a susceptibility locus for PP on chromosome 22q. However, differences observed between the results from our three partly overlapping genetically homogenous study samples from the Samoan islands suggest that additional studies should be performed in order to verify these results. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - October 23, 2009 Category: Genetics & Stem Cells Authors: Karolina AbergFeng DaiSatupaitea VialiJohn TuiteleGuangyun SunSubba IndugulaRanjan DekaDaniel WeeksStephen McGarvey Source Type: journals

Association of APOE polymorphism with chronic kidney disease in a nationally representative sample: a Third National Health and Nutrition Examination Survey (NHANES III) Genetic StudyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Background: Apolipoprotein E polymorphisms (APOE) have been associated with lowered glomerular filtration rate (GFR) and chronic kidney disease (CKD) with e2 allele conferring risk and e4 providing protection. However, few data are available in non-European ethnic groups or in a population-based cohort. Methods: The authors analyzed 5,583 individuals from the Third National Health and Nutrition Examination Survey (NHANES III) to determine association with estimated GFR by the Modification of Diet in Renal Disease (MDRD) equation and CKD. Low-GFR cases were defined as GFR (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - October 22, 2009 Category: Genetics & Stem Cells Authors: Audrey ChuRulan ParekhBrad AstorJosef CoreshYvette Berthier-SchaadMichael SmithAlan ShuldinerWen Hong Kao Source Type: journals

Genetic effect of CysLTR2 polymorphisms on its mRNA synthesis and stabilizationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: The sequence variants of CYSLTR2 may affect its transcription and the stability of its mRNA, resulting in altered expression of CysLTR2 protein, which in turn causes some asthmatics to be susceptible to aspirin hypersensitivity. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - October 19, 2009 Category: Genetics & Stem Cells Authors: Jeong-Ah ShinHun Soo ChangSe-Min ParkAn-Soo JangSung Woo ParkJong Sook ParkSoo-Taek UhGune Il LimTaiyoun RhimMi-Kyeong KimInseon ChoiIl Yup ChungByung Lae ParkHyoung Doo ShinChoon-Sik Park Source Type: journals

Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 geneEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Background: DJ-1 forms part of the neuronal cellular defence mechanism against oxidative insults, due to its ability to undergo self-oxidation. Oxidative stress has been implicated in the pathogenesis of central nervous system damage in different neurodegenerative disorders including Alzheimer's disease and Parkinson's disease (PD). Various mutations in the DJ-1 (PARK7) gene have been shown to cause the autosomal recessive form of PD. In the present study South African PD patients were screened for mutations in DJ-1 and we aimed to investigate the functional significance of a novel 16bp deletion variant identified in one p...
Source: BMC Medical Genetics - Latest articles - October 12, 2009 Category: Genetics & Stem Cells Authors: Rowena KeyserLize van der MerweMauritz VenterCraig KinnearLouise WarnichJonathan CarrSoraya Bardien Source Type: journals

The role of CACNA1S in predisposition to malignant hyperthermiaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: The study identified a single potentially pathogenic change in CACNA1S (p.Arg174Trp), and highlights that the haplotype structure across CACNA1S is diverse, with a high degree of variability. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - October 12, 2009 Category: Genetics & Stem Cells Authors: Danielle CarpenterChristopher RingroseVincenzo LeoAndrew MorrisRachel RobinsonP Jane HalsallPhilip HopkinsMarie-Anne Shaw Source Type: journals

Single nucleotide polymorphisms in obesity-related genes and all-cause and cause-specific mortality: a prospective cohort studyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Findings from this cohort study suggest that the selected SNPs are not associated with overall or cause-specific death, although several LEPR SNPs may be related to BMI and BMI change over time. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - October 8, 2009 Category: Genetics & Stem Cells Authors: Lisa GallicchioHoward ChangDana ChristoLucy ThuitaHan Yao HuangPaul StricklandIngo RuczinskiSandra ClippKathy Helzlsouer Source Type: journals

Autism genetic database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sitesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: AGD comprises a comprehensive list of susceptibility genes and copy number variations reported to-date in association with autism, as well as all known human noncoding RNA genes and fragile sites. Such a unique and inclusive autism genetic database will facilitate the evaluation of autism susceptibility factors in relation to known human noncoding RNAs and fragile sites, impacting on human diseases. As a result, this new autism database offers a valuable tool for the research community to evaluate genetic findings for this complex multifactorial disorder in an integrated format. AGD provides a genome browser an...
Source: BMC Medical Genetics - Latest articles - September 23, 2009 Category: Genetics & Stem Cells Authors: Gregory MatuszekZohreh Talebizadeh Source Type: journals

Do the mutations of C1GALT1C1 gene play important roles in the genetic susceptibility to Chinese IgA nephropathy?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: The c.-347-190G>A polymorphism and the somatic mutation of encoding region of C1GALT1C1 gene were not significantly related to the genetic susceptibility to IgAN in Northern Chinese population. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - September 23, 2009 Category: Genetics & Stem Cells Authors: Gui-Sen LiGuang-Jun NieHong ZhangJi-Cheng LvYan ShenHai-Yan Wang Source Type: journals

Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B*44 or HLA*B8Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: These findings suggest that TACI mutations are unlikely to play a critical role in creating susceptibility to CVID among patients with previously recognized MHC class I and class II susceptibility alleles.Supported by NIH/USIDNET N01-AI30070, NIH R21 AI079741 and NIH M01-RR00032 (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - September 22, 2009 Category: Genetics & Stem Cells Authors: Manda WaldrepYingxin ZhuangHarry Schroeder Source Type: journals

Association analyses of the INSIG2 polymorphism in the obesity and cholesterol levels of Korean populationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: We failed to show associations of rs7566605 with cholesterol- and obesity-related phenotypes, although we newly suggest the possible involvement of INSIG2 with the plasma level of the total cholesterol in women. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - September 21, 2009 Category: Genetics & Stem Cells Authors: Seongwon ChaImhoi KooSun Mi ChoiByung Lae ParkKil Soo KimJae-Ryong KimHyoung Doo ShinJong Yeol Kim Source Type: journals

Pathogenesis of vestibular schwannoma in ring chromosome 22Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: We conclude that tumours can arise by the combination of loss of the ring chromosome and a pathogenic NF2 mutation on the remaining chromosome 22 in patients with ring chromosome 22. Our findings indicate that patients with a ring 22 should be monitored for NF2-related tumours starting in adolescence. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - September 21, 2009 Category: Genetics & Stem Cells Authors: Ellen DenayerHilde BremsPaul De CockGareth EvansFrank Van CalenberghNaomi BowersRaf SciotMaria Debiec-RychterJoris VermeeschJean-Pierre FrynsEric Legius Source Type: journals

Genomewide Association Study for Onset Age in Parkinson DiseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Background: Age at onset in Parkinson disease (PD) is a highly heritable quantitative trait for which a significant genetic influence is supported by multiple segregation analyses. Because genes associated with onset age may represent invaluable therapeutic targets to delay the disease, we sought to identify such genetic modifiers using a genomewide association study in familial PD. There have been previous genomewide association studies (GWAS) to identify genes influencing PD susceptibility, but this is the first to identify genes contributing to the variation in onset age. Methods: Initial analyses were performed using g...
Source: BMC Medical Genetics - Latest articles - September 21, 2009 Category: Genetics & Stem Cells Authors: Jeanne LatourelleNathan PankratzAlexandra DumitriuJemma WilkStefano GoldwurmGianni PezzoliClaudio MarianiAnita DestefanoCheryl HalterJames GusellaWilliam NicholsRichard MyersTatiana ForoudPSG -PROGENI Investigators and CoordinatorsPSG -PROGENI Molecular G Source Type: journals

Genetic association study of selected candidate genes (ApoB, LPL, Leptin) and telomere length in obese and hypertensive individuals.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Background: A genetic study was carried out among obese and hypertensive individuals from India to assess allelic association, if any, at three candidate loci : Apolipoprotein B (ApoB)minisatellite and two tetranucleotide repeat loci; LPL (Lipoprotein lipase) and Leptin. Attempt has also been made to find out whether telomere length attrition is associated with hypertension and obese individuals. Methods: Venous blood samples were collected from 37 normal, 35 obese and 47 hypertensive individuals. Genomic DNA was extracted from peripheral blood mononuclear cells (PBMC) and PCR amplifications were achieved using locus speci...
Source: BMC Medical Genetics - Latest articles - September 21, 2009 Category: Genetics & Stem Cells Authors: Birajalaxmi DasNilambari PawarDivyalakshmi SainiM Seshadri Source Type: journals

Variation in the UCP2 and UCP3 genes associates with abdominal obesity and serum lipids: The Finnish Diabetes Prevention StudyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Genetic variation in the UCP2-UCP3 gene cluster may act as a modifier increasing serum lipid levels and indices of abdominal obesity, and may thereby also contribute to the metabolic aberrations observed in obesity and type 2 diabetes. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - September 20, 2009 Category: Genetics & Stem Cells Authors: Titta SalopuroLeena PulkkinenJaana LindstromMarjukka KolehmainenAnna-Maija TolppanenJohan ErikssonTimo ValleSirkka AunolaPirjo Ilanne-ParikkaSirkka Keinanen-KiukaanniemiJaakko TuomilehtoMarkku LaaksoMatti Uusitupa Source Type: journals

Influences of polymorphic variants of DRD2 and SLC6A3 genes, and their combinations on smoking in Polish populationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Polymorphic variants of DRD2 and SLC6A3 genes may influence some aspects of the smoking behavior, including age of starting regular smoking, the level of cigarette consumption, and periods of abstinence. Further large sample studies are needed to verify this hypothesis. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - September 16, 2009 Category: Genetics & Stem Cells Authors: Alicja SieminskaKrzysztof BuczkowskiEwa JassemMarek NiedoszytkoEwa Tkacz Source Type: journals

HECTD2, a candidate susceptibility gene for Alzheimer's disease on 10qEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: The common haplotypes of HECTD2, tagged by rs12249854, are not associated with susceptibility to LOAD. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - September 14, 2009 Category: Genetics & Stem Cells Authors: Sarah LloydMartin RossorNick FoxSimon MeadJohn Collinge Source Type: journals

Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control studyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Common variants of OPTN, PARL and MFN2 should be analyzed in other cohorts to confirm their involvement in normal tension glaucoma. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - September 14, 2009 Category: Genetics & Stem Cells Authors: Christiane WolfEugen GramerBertram Muller-MyhsokFrancesca PasuttoEva ReinthalBernd WissingerNicole Weisschuh Source Type: journals

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Our findings indicate that gross mutations seem to be a frequent cause of AOA2 and reveal the importance of additional copy number analysis for routine diagnostics. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - September 10, 2009 Category: Genetics & Stem Cells Authors: Veronica BernardMartina MinneropKatrin BurkFriedmar KreuzGabriele Gillessen-KaesbachChristine Zuehlke Source Type: journals

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complexEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Our results suggest that amino acid residues within the N-terminal region of TSC1 are important for TSC1 function and for maintaining the activity of the TSC1-TSC2 complex. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - September 10, 2009 Category: Genetics & Stem Cells Authors: Melika MozaffariMarianne Hoogeveen-WesterveldDavid KwiatkowskiJulian SampsonRosemary EkongSue PoveyJohan den DunnenAns van den OuwelandDicky HalleyMark Nellist Source Type: journals

Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: The proposed two-stage analytical method can be used to search for joint effects of genes in GWAS. The two-stage strategy decreased the computational time and the multiple testing burdens associated with GWAS. We have also observed that the loci identified by our two-stage strategy can not be detected by single-locus tests. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - September 8, 2009 Category: Genetics & Stem Cells Authors: Qiuying ShaZhaogong ZhangJennifer SchymickBryan TraynorShuanglin Zhang Source Type: journals

The promoter polymorphism -232C/G of the PCK1 gene is associated with type 2 diabetes in a UK-resident South Asian populationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: This study is the first to investigate the association between variants of the PCK1 gene and T2D in South Asians. Our results suggest that the -232C/G promoter polymorphism confers susceptibility to T2D in this ethnic group.UKADS Trial Registration: ISRCTN38297969 (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - September 1, 2009 Category: Genetics & Stem Cells Authors: Simon ReesAbigail BrittenSrikanth BellaryJ O'HareSudhesh KumarAnthony BarnettM Kelly Source Type: journals

Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Our search for major susceptibility EH genetic factors evidences that EH in the genetic isolate of Talana is due to the contribution of several genes contained in loci identified and replicated by earlier findings in different human populations. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - August 27, 2009 Category: Genetics & Stem Cells Authors: Evelina MocciMaria ConcasManuela FanciulliNicola PirastuMauro AdamoValentina CabrasCristina FraumeneIvana PersicoAlessandro SassuAndrea PicciauDionigio ProdiDonatella SerraGinevra BiinoMario PirastuAndrea Angius Source Type: journals

Rapid detection of the CYP2A6*12 hybrid allele by Pyrosequencing technologyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: This Pyrosequencing assay proved to be a simple, rapid, and accurate alternative to conventional methods, which can be easily adapted to the needs of higher-throughput studies. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - August 23, 2009 Category: Genetics & Stem Cells Authors: Deborah KoontzJacqueline HuckinsAntonina SpencerMargaret Gallagher Source Type: journals

Association of hypoxia inducible factor-1 alpha gene polymorphism with both type 1 and type 2 diabetes in a Caucasian (Hungarian) sampleEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: We confirmed the protective effect of a rare genetic variant of HIF-1alpha gene against type 2 diabetes in a Caucasian sample. Moreover we demonstrated a genetic contribution of the same polymorphism in type 1 diabetes as well, supporting a possible overlap in pathomechanism for T2DM and a T1DM. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - August 18, 2009 Category: Genetics & Stem Cells Authors: Geza NagyReka Kovacs-NagyEva KereszturiAniko SomogyiAnna SzekelyNora NemethNora HosszufalusiPal PanczelZsolt RonaiMaria Sasvari-Szekely Source Type: journals

New mutations in the PKD1gene in Czech population with autosomal dominant polycystic kidney diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Twenty probable mutations of the PKD1 gene in 90 Czech individuals (fifteen new probable mutations) were detected. The establishment of localization and the type of causal mutations and their genotype - phenotype correlation in ADPKD families will improve DNA diagnosis and could help in the assessment of the clinical prognosis of ADPKD patients. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - August 16, 2009 Category: Genetics & Stem Cells Authors: Jitka StekrovaJana ReiterovaStanislava SvobodovaVera KebrdlovaPetr LnenickaMiroslav MertaOndrej ViklickyMilada Kohoutova Source Type: journals

New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Twenty probable mutations of the PKD1 gene in 90 Czech individuals (fifteen new probable mutations) were detected. The establishment of localization and the type of causal mutations and their genotype - phenotype correlation in ADPKD families will improve DNA diagnosis and could help in the assessment of the clinical prognosis of ADPKD patients. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - August 16, 2009 Category: Genetics & Stem Cells Authors: Jitka StekrovaJana ReiterovaStanislava SvobodovaVera KebrdlovaPetr LnenickaMiroslav MertaOndrej ViklickyMilada Kohoutova Source Type: journals

Common polymorphisms within the NR4A3 locus, encoding the orphan nuclear receptor Nor-1, are associated with enhanced beta-cell function in non-diabetic subjectsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: We conclude that common genetic variation within the NR4A3 locus determines insulin secretion. Thus, NR4A3 represents a novel candidate gene for beta-cell function which was not covered by the SNP arrays of recent genome-wide association studies for type 2 diabetes mellitus. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - August 13, 2009 Category: Genetics & Stem Cells Authors: Peter WeyrichHarald StaigerAlena StancakovaSilke SchaferKerstin KirchhoffSusanne UllrichFelicia RantaBaptist GallwitzNorbert StefanFausto MachicaoJohanna KuusistoMarkku LaaksoAndreas FritscheHans-Ulrich Haring Source Type: journals

A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani originEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: We describe a missense mutation in the CTSK gene in a Pakistani family affected with autosomal recessive pycnodysostosis. Our study strengthens the role of this particular mutation in the pathogenesis of pycnodysostosis and suggests its prevalence in Pakistani patients. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - August 11, 2009 Category: Genetics & Stem Cells Authors: Muhammad NaeemSabeen SheikhWasim Ahmad Source Type: journals

Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counselingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Molecular diagnosis of retinoblastoma requires genotypic data of the family for determining hereditary transmission. In the case of children generated by IVF with oocytes from an anonymous donor which had been stored in a cell repository, this might not be successfully accomplished, making precise diagnosis impracticable for genetic counseling. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - July 28, 2009 Category: Genetics & Stem Cells Authors: Raquel BarbosaFernando VargasEvandro LucenaCibele BonvicinoHector Seuanez Source Type: journals

Novel Quantitative trait locus is mapped to chromosome 12p11 for left ventricular mass in Dominican families: the Family Study of Stroke Risk and Carotid AtherosclerosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: We mapped a novel QTL near D12S1042 for LVM in Dominicans. Enhanced linkage evidence in families with larger waist circumference suggests that gene(s) residing within the QTL interact(s) with abdominal obesity to contribute to phenotypic variation of LVM. Suggestive evidence for linkage (LOD=1.99) has been reported at the same peak marker for left ventricular geometry in a White population from the HyperGEN study, underscoring the importance of this QTL for left ventricular phenotype. Further fine mapping and validation studies are warranted to identify the underpinning genes. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - July 22, 2009 Category: Genetics & Stem Cells Authors: Liyong WangAshley BeechamMarco Di TullioSusan SliferSusan BlantonTatjana RundekRalph Sacco Source Type: journals

Functional analysis of the C-reactive protein (CRP) gene -717A>G polymorphism associated with coronary heart diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: These results provided functional evidence supporting the association of the SNP rs2794521 of the CRP gene with CHD probably through regulating the expression level of CRP by different variations of rs2794521. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - July 21, 2009 Category: Genetics & Stem Cells Authors: Laiyuan WangXiangfeng LuYun LiHongfan LiShufeng ChenDongfeng Gu Source Type: journals

A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: We describe a new CYP21A1P/CYP21A2 chimera (CH-6), associated with the HLA-B15, DR13 haplotype, in a young Italian CAH patient. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - July 21, 2009 Category: Genetics & Stem Cells Authors: Paola ConcolinoEnrica MelloAngelo MinucciEmiliano GiardinaCecilia ZuppiVincenzo ToscanoEttore Capoluongo Source Type: journals

OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA backgroundEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Our results argue against a strong influence of mtDNA background on ADOA expression. These data allow to conclude that OPA1 could be considered as a "severe mutation", directly responsible of the optic atrophy, whereas OPA1-negative ADOA and LHON mutations need an external factor(s) to express the pathology (i.e. synergistic interaction with mitochondrial background). (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - July 19, 2009 Category: Genetics & Stem Cells Authors: Denis PierronMarc FerreChristophe RocherArnaud ChevrolierPascal MurailDidier ThoravalPatrizia Amati-BonneauPascal ReynierThierry Letellier Source Type: journals

Mutations in STK11 gene in Czech Peutz-Jeghers patientsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Our results showed that a germline mutation of STK11 gene can be found not only in probands fulfilling the PJS diagnostic criteria, but also in some sporadic cases not complying with the criteria. Moreover, we observed a new case of aggressive gastric cancer in a young patient with a frameshift mutation of STK11 gene. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - July 18, 2009 Category: Genetics & Stem Cells Authors: Peter VasovcakAlena PuchmajerovaJan RoubalikAnna Krepelova Source Type: journals

No association of CDK5 genetic variants with Alzheimer's disease riskEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Our negative findings in the Spanish population argue against the hypothesis that CDK5 genetic variations are causally related to AD risk. Still, additional studies using different sets of patients and control subjects deserve further attention, since supporting evidence for association between CDK5 gene and AD risk in the Dutch population exists. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - July 16, 2009 Category: Genetics & Stem Cells Authors: Jose Luis Vazquez-HigueraIgnacio MateoPascual Sanchez-JuanEloy Rodriguez-RodriguezJon InfanteJose BercianoOnofre Combarros Source Type: journals

Type 2 diabetes gene TCF7L2 polymorphism is not associated with fetal and postnatal growth in two birth cohort studiesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: We found no evidence for an association between TCF7L2 genotype and fetal and early postnatal growth. Furthermore, this TCF7L2 polymorphism was not associated with an increased risk of SGA. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - July 16, 2009 Category: Genetics & Stem Cells Authors: Dennis Mook-KanamoriSandra de KortCornelia van DuijnAndre UitterlindenAlbert HofmanHenriette MollEric SteegersAnita Hokken-KoelegaVincent Jaddoe Source Type: journals

Absence of association between SERPINE2 genetic polymorphisms and chronic obstructive pulmonary disease in Han Chinese: a case-control cohort studyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Our results failed to obtain the evidence that these SNPs in SERPINE2 contributed to the COPD susceptibility in the Han Chinese population. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - July 15, 2009 Category: Genetics & Stem Cells Authors: Li ZhongWei-Ping FuChang SunLu-Ming DaiYa-Ping Zhang Source Type: journals

Association between ACE Gene I/D polymorphisms and hyperandrogenism in women with Polycystic Ovary Syndrome (PCOS) and controlsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Background: I/D polymorphisms of ACE are associated with the plasma ACE concentration. The ACE is associated with the angiogenesis of ovarian endothelium in vitro, steroidogenesis, and follicular growth in cattle. Though the presence and requirement of ACE are species specific, the ovary has high blood supply and Polycystic Ovary Syndrome (PCOS) exhibits hyperplasia, hypervascularity of the ovarian theca interna and stroma and disordered steroidogenesis.Therefore, we hypothesized that the ACE plays some roles in the human ovary. To investigate whether the ACE I/D polymorphisms are associated with the steroidogenesis disord...
Source: BMC Medical Genetics - Latest articles - July 13, 2009 Category: Genetics & Stem Cells Authors: Jing SunHaijian FanYena CheYunxia CaoXiaoke WuHai-xiang SunFengjing LiangLong YiYong Wang Source Type: journals

Low frequency of the TIRAP S180L polymorphism in Africa, and its potential role in malaria, sepsis, and leprosyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: A broad protective effect of TIRAP S180L against infectious diseases per se is not discernible. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - July 13, 2009 Category: Genetics & Stem Cells Authors: Lutz HamannOliver KumpfRon SchuringErkan AlpsoyGeorge Bedu-AddoUlrich BienzleLinda OskamFrank MockenhauptRalf Schumann Source Type: journals

Lack of Association of TIM3 Polymorphisms and Allergic PhenotypesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Our findings indicate that SNPs and haplotypes in the TIM3 promoter region do not have a functional effect in vitro and are not associated with allergic diseases. These data suggest that polymorphisms in the TIM3 promoter region are unlikely to play an important role in susceptibility to allergic diseases. (Source: BMC Medical Genetics - Latest articles)
Source: BMC Medical Genetics - Latest articles - June 29, 2009 Category: Genetics & Stem Cells Authors: Jian ZhangDenise DaleyLoubna AkhabirDorota StefanowiczMoira Chan-YeungAllan BeckerCatherine LaprisePeter PareAndrew Sandford Source Type: journals