MedWorm.com provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest items from the 'PathoGenetics' source. Sat, 03 Apr 2010 15:43:01 +0100 http://www.medworm.com/index.php?rid=3230460&cid=s_38190_50_f&fid=38190&url=http%3A%2F%2Fwww.pathogeneticsjournal.com%2Fcontent%2F3%2F1%2F2 Conclusions: Our findings shed light on the pathological mechanisms underlying mental retardation and have implications for future diagnostics of this heterogeneous disorder. (Source: PathoGenetics) PathoGenetics journals http://www.medworm.com/rss/comments.php?id=3230460 Tue, 02 Feb 2010 00:00:00 +0100 3230460 http://www.medworm.com/index.php?rid=3141515&cid=s_38190_50_f&fid=38190&url=http%3A%2F%2Fwww.pathogeneticsjournal.com%2Fcontent%2F3%2F1%2F1 Conclusions: We show that the most likely, common pathogenic mechanism of the missense mutations in NLS regions of the ARX homeodomain is inadequate accumulation and distribution of the ARX transcription factor within the nucleus due to sequestration of ARX with IPO13. (Source: PathoGenetics) PathoGenetics journals http://www.medworm.com/rss/comments.php?id=3141515 Tue, 05 Jan 2010 00:00:00 +0100 3141515 http://www.medworm.com/index.php?rid=2933548&cid=s_38190_50_f&fid=38190&url=http%3A%2F%2Fwww.pathogeneticsjournal.com%2Fcontent%2F2%2F1%2F6 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 functions of polycystins and their role in signal transduction.Increased activity of the mammalian target of rapamycin (mTOR) kinase has been observed in cysts found in ADPKD tis... PathoGenetics journals http://www.medworm.com/rss/comments.php?id=2933548 Wed, 28 Oct 2009 00:00:00 +0100 2933548 http://www.medworm.com/index.php?rid=2572582&cid=s_38190_50_f&fid=38190&url=http%3A%2F%2Fwww.pathogeneticsjournal.com%2Fcontent%2F2%2F1%2F5 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) PathoGenetics journals http://www.medworm.com/rss/comments.php?id=2572582 Sun, 05 Jul 2009 23:00:00 +0100 2572582 http://www.medworm.com/index.php?rid=2500456&cid=s_38190_50_f&fid=38190&url=http%3A%2F%2Fwww.pathogeneticsjournal.com%2Fcontent%2F2%2F1%2F4 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) PathoGenetics journals http://www.medworm.com/rss/comments.php?id=2500456 Mon, 15 Jun 2009 23:00:00 +0100 2500456 http://www.medworm.com/index.php?rid=2411619&cid=s_38190_50_f&fid=38190&url=http%3A%2F%2Fwww.pathogeneticsjournal.com%2Fcontent%2F2%2F1%2F3 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 during embryogenesis the primary cilium has an essential role in defining the correct patterning of the body. Cilia are composed of hundreds of proteins and the impairment o... PathoGenetics journals http://www.medworm.com/rss/comments.php?id=2411619 Wed, 13 May 2009 04:00:00 +0100 2411619 http://www.medworm.com/index.php?rid=2123000&cid=s_38190_50_f&fid=38190&url=http%3A%2F%2Fwww.pathogeneticsjournal.com%2Fcontent%2F2%2F1%2F1 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 between BLKS and B6 mice, and provides evidence for a causative role of the DBA genome in b-cell dysfunction in BLKS mice. (Source: PathoGenetics) PathoGenetics journals http://www.medworm.com/rss/comments.php?id=2123000 Thu, 22 Jan 2009 05:00:00 +0100 2123000 http://www.medworm.com/index.php?rid=2000153&cid=s_38190_50_f&fid=38190&url=http%3A%2F%2Fwww.pathogeneticsjournal.com%2Fcontent%2F1%2F1%2F5 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) PathoGenetics journals http://www.medworm.com/rss/comments.php?id=2000153 Mon, 01 Dec 2008 05:00:00 +0100 2000153 http://www.medworm.com/index.php?rid=2000152&cid=s_38190_50_f&fid=38190&url=http%3A%2F%2Fwww.pathogeneticsjournal.com%2Fcontent%2F1%2F1%2F6 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) PathoGenetics journals http://www.medworm.com/rss/comments.php?id=2000152 Mon, 01 Dec 2008 05:00:00 +0100 2000152 http://www.medworm.com/index.php?rid=2500460&cid=s_38190_50_f&fid=38190&url=http%3A%2F%2Fwww.pathogenetics.com%2Fcontent%2F1%2F1%2F1 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 and cellular basis of many diseases but much still remains to be discovered. The current challenge is to understand the molecular and metabolic pathways by which a partic... PathoGenetics journals http://www.medworm.com/rss/comments.php?id=2500460 Mon, 03 Nov 2008 00:00:00 +0100 2500460 http://www.medworm.com/index.php?rid=2500459&cid=s_38190_50_f&fid=38190&url=http%3A%2F%2Fwww.pathogenetics.com%2Fcontent%2F1%2F1%2F2 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) PathoGenetics journals http://www.medworm.com/rss/comments.php?id=2500459 Mon, 03 Nov 2008 00:00:00 +0100 2500459 http://www.medworm.com/index.php?rid=2500458&cid=s_38190_50_f&fid=38190&url=http%3A%2F%2Fwww.pathogenetics.com%2Fcontent%2F1%2F1%2F3 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) PathoGenetics journals http://www.medworm.com/rss/comments.php?id=2500458 Mon, 03 Nov 2008 00:00:00 +0100 2500458 http://www.medworm.com/index.php?rid=2500457&cid=s_38190_50_f&fid=38190&url=http%3A%2F%2Fwww.pathogenetics.com%2Fcontent%2F1%2F1%2F4 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 accounts for most of the recurrent rearrangements: those that share a common size, show clustering of breakpoints, and recur in multiple individuals. Non-recurrent rearran... PathoGenetics journals http://www.medworm.com/rss/comments.php?id=2500457 Mon, 03 Nov 2008 00:00:00 +0100 2500457