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10.1038/ejhg.2015.113 http://scihub22266oqcxt.onion/10.1038/ejhg.2015.113 C4755365!4755365!26014433     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Eur+J+Hum+Genet 2016 ; 24 (3): 387-91 Nephropedia Template TP {{tp|p=26014433|t=2016. Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome |pdf=|usr=}}{{26014433}} gab.com Text Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome JO: Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=26014433 #FOAvip X-linked Alport syndrome (XLAS) is a progressive, hereditary nephropathy. Although men with XLAS usually develop end-stage renal disease before 30 years of age, some men show a milder phenotype and develop end-stage renal disease later in life. However, the molecular mechanisms associated with this milder phenotype have not been fully identified. We genetically diagnosed 186 patients with suspected XLAS between January 2006 and August 2014. Genetic examination involved: (1) extraction and analysis of genomic DNA using PCR and direct sequencing using Sanger's method and (2) next-generation sequencing to detect variant allele frequencies. We identified somatic mosaic variants in the type VI collagen, ?5 gene (COL4A5) in four patients. Interestingly, two of these four patients with variant frequencies in kidney biopsies or urinary sediment cells of ?50% showed hematuria and moderate proteinuria, whereas the other two with variant frequencies of <50% were asymptomatic or only had hematuria. De novo variants can occur even in asymptomatic male cases of XLAS resulting in mosaicism, with important implications for genetic counseling. This is the first study to show a tendency between the variant allele frequency and disease severity in male XLAS patients with somatic mosaic variants in COL4A5. Although this is a very rare status of somatic mosaicism, further analysis is needed to show this correlation in a larger population. Twit Text FOAVip Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome ????Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=26014433 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26014433 #FOAvip English Wikipedia <ref>{{Cite pmid|26014433}}</ref> Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome #MMPMID26014433 Fu XJ; Nozu K; Kaito H; Ninchoji T; Morisada N; Nakanishi K; Yoshikawa N; Ohtsubo H; Matsunoshita N; Kamiyoshi N; Matsumura C; Takagi N; Maekawa K; Taniguchi-Ikeda M; Iijima K Eur J Hum Genet 2016[Mar]; 24 (3): 387-91 PMID26014433show ga X-linked Alport syndrome (XLAS) is a progressive, hereditary nephropathy. Although men with XLAS usually develop end-stage renal disease before 30 years of age, some men show a milder phenotype and develop end-stage renal disease later in life. However, the molecular mechanisms associated with this milder phenotype have not been fully identified. We genetically diagnosed 186 patients with suspected XLAS between January 2006 and August 2014. Genetic examination involved: (1) extraction and analysis of genomic DNA using PCR and direct sequencing using Sanger's method and (2) next-generation sequencing to detect variant allele frequencies. We identified somatic mosaic variants in the type VI collagen, ?5 gene (COL4A5) in four patients. Interestingly, two of these four patients with variant frequencies in kidney biopsies or urinary sediment cells of ?50% showed hematuria and moderate proteinuria, whereas the other two with variant frequencies of <50% were asymptomatic or only had hematuria. De novo variants can occur even in asymptomatic male cases of XLAS resulting in mosaicism, with important implications for genetic counseling. This is the first study to show a tendency between the variant allele frequency and disease severity in male XLAS patients with somatic mosaic variants in COL4A5. Although this is a very rare status of somatic mosaicism, further analysis is needed to show this correlation in a larger population. äSomatic mosaicism and variant frequency detected by next-generation se(epmc).pdf DeepDyve Pubget Overpricing