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.

10.1681/ASN.2012100983 http://scihub22266oqcxt.onion/10.1681/ASN.2012100983 24029420!3839542!24029420     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Am+Soc+Nephrol 2013 ; 24 (12): 2105-17 Nephropedia Template TP {{tp|p=24029420|t=2013. Common variants in Mendelian kidney disease genes and their association with renal function |pdf=|usr=}}{{24029420}} gab.com Text Common variants in Mendelian kidney disease genes and their association with renal function JO: J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=24029420 #FOAvip Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms (SNPs) in genes responsible for Mendelian diseases with kidney phenotypes has not been performed. We thus developed a comprehensive database of genes for Mendelian kidney conditions and evaluated the association between common genetic variants within these genes and kidney function in the general population. Using the Online Mendelian Inheritance in Man database, we identified 731 unique disease entries related to specific renal search terms and confirmed a kidney phenotype in 218 of these entries, corresponding to mutations in 258 genes. We interrogated common SNPs (minor allele frequency >5%) within these genes for association with the estimated GFR in 74,354 European-ancestry participants from the CKDGen Consortium. However, the top four candidate SNPs (rs6433115 at LRP2, rs1050700 at TSC1, rs249942 at PALB2, and rs9827843 at ROBO2) did not achieve significance in a stage 2 meta-analysis performed in 56,246 additional independent individuals, indicating that these common SNPs are not associated with estimated GFR. The effect of less common or rare variants in these genes on kidney function in the general population and disease-specific cohorts requires further research. Twit Text FOAVip Common variants in Mendelian kidney disease genes and their association with renal function ????J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=24029420 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24029420 #FOAvip English Wikipedia <ref>{{Cite pmid|24029420}}</ref> Common variants in Mendelian kidney disease genes and their association with renal function #MMPMID24029420 Parsa A; Fuchsberger C; Kottgen A; O'Seaghdha CM; Pattaro C; de Andrade M; Chasman DI; Teumer A; Endlich K; Olden M; Chen MH; Tin A; Kim YJ; Taliun D; Li M; Feitosa M; Gorski M; Yang Q; Hundertmark C; Foster MC; Glazer N; Isaacs A; Rao M; Smith AV; O'Connell JR; Struchalin M; Tanaka T; Li G; Hwang SJ; Atkinson EJ; Lohman K; Cornelis MC; Johansson A; Tonjes A; Dehghan A; Couraki V; Holliday EG; Sorice R; Kutalik Z; Lehtimaki T; Esko T; Deshmukh H; Ulivi S; Chu AY; Murgia F; Trompet S; Imboden M; Kollerits B; Pistis G; Harris TB; Launer LJ; Aspelund T; Eiriksdottir G; Mitchell BD; Boerwinkle E; Schmidt H; Hofer E; Hu F; Demirkan A; Oostra BA; Turner ST; Ding J; Andrews JS; Freedman BI; Giulianini F; Koenig W; Illig T; Doring A; Wichmann HE; Zgaga L; Zemunik T; Boban M; Minelli C; Wheeler HE; Igl W; Zaboli G; Wild SH; Wright AF; Campbell H; Ellinghaus D; Nothlings U; Jacobs G; Biffar R; Ernst F; Homuth G; Kroemer HK; Nauck M; Stracke S; Volker U; Volzke H; Kovacs P; Stumvoll M; Magi R; Hofman A; Uitterlinden AG; Rivadeneira F; Aulchenko YS; Polasek O; Hastie N; Vitart V; Helmer C; Wang JJ; Stengel B; Ruggiero D; Bergmann S; Kahonen M; Viikari J; Nikopensius T; Province M; Colhoun H; Doney A; Robino A; Kramer BK; Portas L; Ford I; Buckley BM; Adam M; Thun GA; Paulweber B; Haun M; Sala C; Mitchell P; Ciullo M; Vollenweider P; Raitakari O; Metspalu A; Palmer C; Gasparini P; Pirastu M; Jukema JW; Probst-Hensch NM; Kronenberg F; Toniolo D; Gudnason V; Shuldiner AR; Coresh J; Schmidt R; Ferrucci L; van Duijn CM; Borecki I; Kardia SL; Liu Y; Curhan GC; Rudan I; Gyllensten U; Wilson JF; Franke A; Pramstaller PP; Rettig R; Prokopenko I; Witteman J; Hayward C; Ridker PM; Bochud M; Heid IM; Siscovick DS; Fox CS; Kao WL; Boger CA J Am Soc Nephrol 2013[Dec]; 24 (12): 2105-17 PMID24029420show ga Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms (SNPs) in genes responsible for Mendelian diseases with kidney phenotypes has not been performed. We thus developed a comprehensive database of genes for Mendelian kidney conditions and evaluated the association between common genetic variants within these genes and kidney function in the general population. Using the Online Mendelian Inheritance in Man database, we identified 731 unique disease entries related to specific renal search terms and confirmed a kidney phenotype in 218 of these entries, corresponding to mutations in 258 genes. We interrogated common SNPs (minor allele frequency >5%) within these genes for association with the estimated GFR in 74,354 European-ancestry participants from the CKDGen Consortium. However, the top four candidate SNPs (rs6433115 at LRP2, rs1050700 at TSC1, rs249942 at PALB2, and rs9827843 at ROBO2) did not achieve significance in a stage 2 meta-analysis performed in 56,246 additional independent individuals, indicating that these common SNPs are not associated with estimated GFR. The effect of less common or rare variants in these genes on kidney function in the general population and disease-specific cohorts requires further research. |*Genetic Variation[MESH] |*Mendelian Randomization Analysis[MESH] |*Polymorphism, Single Nucleotide[MESH] |Databases, Genetic[MESH] |Gene Frequency[MESH] |Genome-Wide Association Study[MESH] |Humans[MESH] |Kidney/*physiology[MESH] |Phenotype[MESH] |Renal Insufficiency, Chronic/*genetics[MESH]Common variants in Mendelian kidney disease genes and their associatio(epmc).pdf DeepDyve Pubget Overpricing