PathoGeneticsThis is an RSS file. You can use it to subscribe to this data in your favourite RSS reader, such as GoogleReader, or to display this data on your own website or blog. Subscribe to this data using MyMedWorm.Subscribe to this data using GoogleReader.Subscribe to this data using Bloglines.Subscribe to this data using MyYahoo.

This page shows you the latest items in this publication.

11 records returned

Emerging evidence of a link between the polycystins and the mTOR pathwaysEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disease characterized by the formation of renal cysts. This disease can be caused by mutations in two genes, PKD1 and PKD2, which encode polycystin-1 (PC-1) and -2 (PC-2), respectively.PC-1 is a large plasma membrane receptor involved in the regulation of several biological functions and signaling pathways, and PC-2 is a calcium channel of the TRP family. The two proteins associate in a complex to prevent cyst formation, but the precise mechanism(s) involved remain largely unknown.This review will focus on recent advances in our understanding of the function...
Source: PathoGenetics - October 28, 2009 Category: Genetics & Stem Cells Authors: Alessandra Boletta Source Type: journals

Regulation of TGF-beta signalling by Fbxo11, the gene mutated in the Jeff otitis media mouse mutantEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Overall, our findings support a model whereby Fbxo11, possibly via stabilization of p53, is required to limit the accumulation of pSmad2 in the nucleus of epithelial cells of palatal shelves, eyelids and airways of the lungs. The finding that Fbxo11 impacts upon TGF-beta signalling has important implications for our understanding of the underlying disease mechanisms of middle ear inflammatory disease. (Source: PathoGenetics)
Source: PathoGenetics - July 5, 2009 Category: Genetics & Stem Cells Authors: Hilda TateossianRachel Hardisty-HughesSusan MorseMaria RomeroHelen HiltonCharlotte DeanSteve Brown Source Type: journals

Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VIEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: These results indicate that the non-lysosomal degradation pathways we found activated in mucopolysaccharidosis VI can be both targets of new experimental therapies and biomarkers for follow-up of existing treatments. (Source: PathoGenetics)
Source: PathoGenetics - June 15, 2009 Category: Genetics & Stem Cells Authors: Alessandra TessitoreMarinella PirozziAlberto Auricchio Source Type: journals

The dynamic cilium in human diseasesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Cilia are specialized organelles protruding from the cell surface of almost all mammalian cells. They consist of a basal body, composed of two centrioles, and a protruding body, named the axoneme. Although the basic structure of all cilia is the same, numerous differences emerge in different cell types, suggesting diverse functions. In recent years many studies have elucidated the function of 9+0 primary cilia. The primary cilium acts as an antenna for the cell, and several important pathways such as Hedgehog, Wnt and planar cell polarity (PCP) are transduced through it. Many studies on animal models have revealed that dur...
Source: PathoGenetics - May 13, 2009 Category: Genetics & Stem Cells Authors: Anna D'Angelo and Brunella Franco Source Type: journals

Pancreatic islet expression profiling in diabetes-prone C57BLKS/J mice reveals transcriptional differences contributed by DBA loci, including Plagl1 and NntEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Two genes, Nicotinamide nucleotide transhydrogenase (Nnt) and Pleiomorphic adenoma gene like 1 (Plagl1), were 4 and 7.2-fold higher respectively in BLKS islets, and may be major contributors to increased insulin secretion by BLKS islets. Contrary to reports for B6 mice, BLKS mice do not harbor a mutant Nnt gene. We detected 16 synonymous polymorphisms and a two-amino acid deletion in the Plagl1 gene in BLKS mice. Several inflammatory glucose-responsive genes are expressed at a higher level in BLKS, suggesting an inflammatory component to BLKS islet dysfunction. This study describes physiological differences be...
Source: PathoGenetics - January 22, 2009 Category: Genetics & Stem Cells Authors: Abraham A Anderson, Joan Helmering, Todd Juan, Chi-Ming Li, Jocelyn McCormick, Melissa Graham, Daniel M Baker, Michael A Damore, Murielle M Veniant and David J Lloyd Source Type: journals

Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell linesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: These findings suggest that the NMMHC-IIA mutated in position 1424 is able to interact with the WT form in living cells, despite part of the mutant protein precipitates in non-functional aggregates. Transfection of the entire WT or mutant MYH9 in cell lines represents a powerful experimental model to investigate consequences of MYH9 mutations. (Source: PathoGenetics)
Source: PathoGenetics - December 1, 2008 Category: Genetics & Stem Cells Authors: Emanuele Panza, Monica Marini, Alessandro Pecci, Francesca Giacopelli, Valeria Bozzi, Marco Seri, Carlo Balduini and Roberto Ravazzolo Source Type: journals

Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblastsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: These results indicate a role of the deranged CI-MPR trafficking in the variable response to ERT in PD and have implications for ERT efficacy and optimization of treatment protocols. (Source: PathoGenetics)
Source: PathoGenetics - December 1, 2008 Category: Genetics & Stem Cells Authors: Monica Cardone, Caterina Porto, Antonietta Tarallo, Mariella Vicinanza, Barbara Rossi, Elena Polishchuk, Francesca Donaudy, Generoso Andria, Maria Antonietta De Matteis and Giancarlo Parenti Source Type: journals

Welcome to PathoGeneticsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Disease gene identification has made enormous strides in the past twenty years through functional, positional and candidate gene approaches, and more recently by the exploitation of genome-wide strategies. However, although pathogenic mutations in over 2000 genes have been identified as causative of human diseases, much less is known about the relationship between the molecular defects and mechanisms that lead to disease pathology and symptoms. Recent advances in diverse fields such as genomics, proteomics, cell biology, as well as studies on transgenic animals have greatly accelerated our understanding of the biochemical ...
Source: PathoGenetics - November 3, 2008 Category: Genetics & Stem Cells Authors: Andrea BallabioStylianos Antonarakis Source Type: journals

Smad4 haploinsufficiency: a matter of dosageEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Smad4 haploinsufficiency is sufficient to significantly inhibit both TGF-β and BMP signal transduction and results in the differential expression of a broad subset of target genes likely to underlie tumor formation both from the mesenchymal and epithelial compartments. The results of our study, performed in normal rather than tumor cells where additional (epi-) genetic alterations may confound the analysis, are relevant for our understanding and elucidation of the initial steps underlying SMAD4-driven intestinal tumorigenesis. (Source: PathoGenetics)
Source: PathoGenetics - November 3, 2008 Category: Genetics & Stem Cells Authors: Paola AlbericiClaudia GasparPatrick FrankenMarcin GorskiIngrid de VriesRodney ScottAri RistimakiLauri AaltonenRiccardo Fodde Source Type: journals

High-efficiency Rosa26 knock-in vector construction for Cre-regulated overexpression and RNAiEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: We provide a new high-efficiency cloning system for Rosa26 knock-in constructs to express either cDNA or miRNA fragments. Our system will enable high-throughput approaches for controlled expression of cDNA or miRNA constructs, with the latter providing a potential high-speed alternative for conditional knock-out models. (Source: PathoGenetics)
Source: PathoGenetics - November 3, 2008 Category: Genetics & Stem Cells Authors: Peter HohensteinJoan SlightDerya Deniz OzdemirSally BurnRachel BerryNicholas Hastie Source Type: journals

Mechanisms for human genomic rearrangementsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Genomic rearrangements describe gross DNA changes of the size ranging from a couple of hundred base pairs, the size of an average exon, to megabases (Mb). When greater than 3 to 5 Mb, such changes are usually visible microscopically by chromosome studies. Human diseases that result from genomic rearrangements have been called genomic disorders. Three major mechanisms have been proposed for genomic rearrangements in the human genome. Non-allelic homologous recombination (NAHR) is mostly mediated by low-copy repeats (LCRs) with recombination hotspots, gene conversion and apparent minimal efficient processing segments. NAHR a...
Source: PathoGenetics - November 3, 2008 Category: Genetics & Stem Cells Authors: Wenli GuFeng ZhangJames Lupski Source Type: journals