Use my Search Websuite to scan PubMed, PMCentral, Journal Hosts and Journal Archives, FullText. Kick-your-searchterm to multiple Engines kick-your-query now !>

A dictionary by aggregated review articles of nephrology, medicine and the life sciences Your one-stop-run pathway from word to the immediate pdf of peer-reviewed on-topic knowledge.

10.1038/srep05616 http://scihub22266oqcxt.onion/10.1038/srep05616 C5375973!5375973 !25010007     free     free     free Deprecated: Implicit conversion from float 219.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 219.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 219.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 219.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 219.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 219.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 219.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 219.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 219.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 253.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 253.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 253.2 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\25010007 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Sci+Rep 2014 ; 4 (ä): 5616 Nephropedia Template TP {{tp|p=25010007 |t=2014. Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death |pdf=|usr=}}{{25010007 }} gab.com Text Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death JO: Sci Rep http://www.kidney.de/pget.php?&tw=1&pmid=25010007 #FOAvip SCN5A mutations have been reported to underlie a variety of inherited arrhythmias, while the complex overlapping phenotype, especially with congenital heart disease (CHD), is rarely reported. The 48-year-old proband underwent a recent syncope during rest. A CHD (tetralogy of Fallot) and conduction disease was revealed by echocardiogram and ultrasonic cardiogram examination. We combined whole-exome sequencing (WES) and bioinformatics strategies to identify the pathogenic gene for this autosomal-dominant cardiac conduction disease (CCD) in a multi-generation pedigree. We examined four members of this family, including three affected and one unaffected. A novel nonsense mutation (Y1495X) in SCN5A was identified in the affected family members. This mutation is predicted to generate a truncated SCN5A protein, which could result in the loss of sodium current, a defined mechanism of SCN5A related arrhythmias. Our study provides evidence that WES is a highly effective approach for genetic analyses of rare clinical phenotypes. Our study also offers accurate genetic testing information for those yet clinically negative relatives. Twit Text FOAVip Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death ????Sci Rep http://www.kidney.de/pget.php?&tw=1&pmid=25010007 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25010007 #FOAvip English Wikipedia <ref>{{Cite pmid|25010007 }}</ref> Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death #MMPMID25010007 Tan ZP ; Xie L ; Deng Y ; Chen JL ; Zhang WZ ; Wang J ; Yang JF ; Yang YF Sci Rep 2014[Jul]; 4 (ä): 5616 PMID25010007 show ga SCN5A mutations have been reported to underlie a variety of inherited arrhythmias, while the complex overlapping phenotype, especially with congenital heart disease (CHD), is rarely reported. The 48-year-old proband underwent a recent syncope during rest. A CHD (tetralogy of Fallot) and conduction disease was revealed by echocardiogram and ultrasonic cardiogram examination. We combined whole-exome sequencing (WES) and bioinformatics strategies to identify the pathogenic gene for this autosomal-dominant cardiac conduction disease (CCD) in a multi-generation pedigree. We examined four members of this family, including three affected and one unaffected. A novel nonsense mutation (Y1495X) in SCN5A was identified in the affected family members. This mutation is predicted to generate a truncated SCN5A protein, which could result in the loss of sodium current, a defined mechanism of SCN5A related arrhythmias. Our study provides evidence that WES is a highly effective approach for genetic analyses of rare clinical phenotypes. Our study also offers accurate genetic testing information for those yet clinically negative relatives. |Adolescent [MESH] |Adult [MESH] |Aged [MESH] |Arrhythmias, Cardiac/*etiology/*genetics [MESH] |Brugada Syndrome [MESH] |Cardiac Conduction System Disease [MESH] |Child [MESH] |Child, Preschool [MESH] |Codon, Nonsense/genetics [MESH] |Death, Sudden/*etiology [MESH] |Exome/*genetics [MESH] |Female [MESH] |Genetic Predisposition to Disease/*genetics [MESH] |Heart Conduction System/*abnormalities [MESH] |Humans [MESH] |Male [MESH] |Middle Aged [MESH] |NAV1.5 Voltage-Gated Sodium Channel/*genetics [MESH] |Pedigree [MESH] |Phenotype [MESH]Whole-exome sequencing identifies Y1495X of SCN5A to be associated wit(epmc).pdf DeepDyve Pubget Overpricing