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10.1038/s41598-018-26524-z http://scihub22266oqcxt.onion/10.1038/s41598-018-26524-z C5974356!5974356 !29844330     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 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 Deprecated: Implicit conversion from float 267.2 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 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\29844330 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Sci+Rep 2018 ; 8 (1 ): 8279 Nephropedia Template TP {{tp|p=29844330 |t=2018. Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing |pdf=|usr=}}{{29844330 }} gab.com Text Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing JO: Sci Rep http://www.kidney.de/pget.php?&tw=1&pmid=29844330 #FOAvip Leber congenital amaurosis (LCA) is a genetically and clinically heterogeneous disease, and represents the most severe form of inherited retinal dystrophy (IRD). The present study reports the mutation spectra and frequency of known LCA and IRD-associated genes in 34 Japanese families with LCA (including three families that were previously reported). A total of 74 LCA- and IRD-associated genes were analysed via targeted-next generation sequencing (TS), while recently discovered LCA-associated genes, as well as known variants not able to be screened using this approach, were evaluated via additional Sanger sequencing, long-range polymerase chain reaction, and/or copy number variation analyses. The results of these analyses revealed 30 potential pathogenic variants in 12 (nine LCA-associated and three other IRD-associated) genes among 19 of the 34 analysed families. The most frequently mutated genes were CRB1, NMNAT1, and RPGRIP1. The results also showed the mutation spectra and frequencies identified in the analysed Japanese population to be distinctly different from those previously identified for other ethnic backgrounds. Finally, the present study, which is the first to conduct a NGS-based molecular diagnosis of a large Japanese LCA cohort, achieved a detection rate of approximately 56%, indicating that TS is a valuable method for molecular diagnosis of LCA cases in the Japanese population. Twit Text FOAVip Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing ????Sci Rep http://www.kidney.de/pget.php?&tw=1&pmid=29844330 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29844330 #FOAvip English Wikipedia <ref>{{Cite pmid|29844330 }}</ref> Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing #MMPMID29844330 Hosono K ; Nishina S ; Yokoi T ; Katagiri S ; Saitsu H ; Kurata K ; Miyamichi D ; Hikoya A ; Mizobuchi K ; Nakano T ; Minoshima S ; Fukami M ; Kondo H ; Sato M ; Hayashi T ; Azuma N ; Hotta Y Sci Rep 2018[May]; 8 (1 ): 8279 PMID29844330 show ga Leber congenital amaurosis (LCA) is a genetically and clinically heterogeneous disease, and represents the most severe form of inherited retinal dystrophy (IRD). The present study reports the mutation spectra and frequency of known LCA and IRD-associated genes in 34 Japanese families with LCA (including three families that were previously reported). A total of 74 LCA- and IRD-associated genes were analysed via targeted-next generation sequencing (TS), while recently discovered LCA-associated genes, as well as known variants not able to be screened using this approach, were evaluated via additional Sanger sequencing, long-range polymerase chain reaction, and/or copy number variation analyses. The results of these analyses revealed 30 potential pathogenic variants in 12 (nine LCA-associated and three other IRD-associated) genes among 19 of the 34 analysed families. The most frequently mutated genes were CRB1, NMNAT1, and RPGRIP1. The results also showed the mutation spectra and frequencies identified in the analysed Japanese population to be distinctly different from those previously identified for other ethnic backgrounds. Finally, the present study, which is the first to conduct a NGS-based molecular diagnosis of a large Japanese LCA cohort, achieved a detection rate of approximately 56%, indicating that TS is a valuable method for molecular diagnosis of LCA cases in the Japanese population. |Adolescent [MESH] |Adult [MESH] |Aged [MESH] |Child [MESH] |Cytoskeletal Proteins [MESH] |DNA Copy Number Variations [MESH] |DNA Mutational Analysis [MESH] |Exome [MESH] |Eye Proteins/genetics/metabolism [MESH] |Family [MESH] |Female [MESH] |High-Throughput Nucleotide Sequencing/methods [MESH] |Humans [MESH] |Japan [MESH] |Leber Congenital Amaurosis/*diagnosis/*genetics [MESH] |Male [MESH] |Membrane Proteins/genetics/metabolism [MESH] |Middle Aged [MESH] |Mutation/genetics [MESH] |Nerve Tissue Proteins/genetics/metabolism [MESH] |Nicotinamide-Nucleotide Adenylyltransferase/genetics/metabolism [MESH] |Pedigree [MESH] |Proteins/genetics/metabolism [MESH]Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amau(epmc).pdf DeepDyve Pubget Overpricing