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10.1002/humu.22557 http://scihub22266oqcxt.onion/10.1002/humu.22557 C4267685!4267685!24729539     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       Hum+Mutat 2014 ; 35 (7): 819-23 Nephropedia Template TP {{tp|p=24729539|t=2014. TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss |pdf=|usr=}}{{24729539}} gab.com Text TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss JO: Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=24729539 #FOAvip Hereditary hearing loss (HHL) is extremely heterogeneous. Over 70 genes have been identified to date, and with the advent of massively parallel sequencing, the pace of novel gene discovery has accelerated. In a family segregating progressive autosomal dominant non-syndromic hearing loss (ADNSHL) we used OtoSCOPEŽ to exclude mutations in known deafness genes and then performed segregation mapping and whole exome sequencing (WES) to identify a unique variant, p.Ser178Leu, in TBC1D24 that segregates with the hearing loss phenotype. TBC1D24 encodes a GTPase-activating protein expressed in the cochlea. Ser178 is highly conserved across vertebrates and its change is predicted to be damaging. Other variants in TBC1D24 have been associated with a panoply of clinical symptoms including autosomal recessive NSHL (ARNSHL), syndromic hearing impairment associated with onychodystrophy, osteodystrophy, mental retardation and seizures (DOORS syndrome), and a wide range of epileptic disorders. Twit Text FOAVip TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss ????Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=24729539 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24729539 #FOAvip English Wikipedia <ref>{{Cite pmid|24729539}}</ref> TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss #MMPMID24729539 Azaiez H; Booth KT; Bu F; Huygen P; Shibata S; Shearer AE; Kolbe D; Meyer N; Black-Ziegelbein EA; Smith RJ Hum Mutat 2014[Jul]; 35 (7): 819-23 PMID24729539show ga Hereditary hearing loss (HHL) is extremely heterogeneous. Over 70 genes have been identified to date, and with the advent of massively parallel sequencing, the pace of novel gene discovery has accelerated. In a family segregating progressive autosomal dominant non-syndromic hearing loss (ADNSHL) we used OtoSCOPEŽ to exclude mutations in known deafness genes and then performed segregation mapping and whole exome sequencing (WES) to identify a unique variant, p.Ser178Leu, in TBC1D24 that segregates with the hearing loss phenotype. TBC1D24 encodes a GTPase-activating protein expressed in the cochlea. Ser178 is highly conserved across vertebrates and its change is predicted to be damaging. Other variants in TBC1D24 have been associated with a panoply of clinical symptoms including autosomal recessive NSHL (ARNSHL), syndromic hearing impairment associated with onychodystrophy, osteodystrophy, mental retardation and seizures (DOORS syndrome), and a wide range of epileptic disorders. äTBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss (epmc).pdf DeepDyve Pubget Overpricing