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10.1016/j.cell.2014.09.002 http://scihub22266oqcxt.onion/10.1016/j.cell.2014.09.002 C4298142!4298142!25259927     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       Cell 2014 ; 159 (1): 200-14 Nephropedia Template TP {{tp|p=25259927|t=2014. A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases |pdf=|usr=}}{{25259927}} gab.com Text A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases JO: Cell http://www.kidney.de/pget.php?&tw=1&pmid=25259927 #FOAvip Invertebrate model systems are powerful tools for studying human disease owing to their genetic tractability and ease of screening. We conducted a mosaic genetic screen of lethal mutations on the Drosophila X-chromosome to identify genes required for the development, function, and maintenance of the nervous system. We identified 165 genes, most of whose function has not been studied in vivo. In parallel, we investigated rare variant alleles in 1,929 human exomes from families with unsolved Mendelian disease. Genes that are essential in flies and have multiple human homologs were found to be likely to be associated with human diseases. Merging the human datasets with the fly genes allowed us to identify disease-associated mutations in six families and to provide insights into microcephaly associated with brain dysgenesis. This bidirectional synergism between fly genetics and human genomics facilitates the functional annotation of evolutionarily conserved genes involved in human health. Twit Text FOAVip A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases ????Cell http://www.kidney.de/pget.php?&tw=1&pmid=25259927 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25259927 #FOAvip English Wikipedia <ref>{{Cite pmid|25259927}}</ref> A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases #MMPMID25259927 Yamamoto S; Jaiswal M; Charng WL; Gambin T; Karaca E; Mirzaa G; Wiszniewski W; Sandoval H; Haelterman NA; Xiong B; Zhang K; Bayat V; David G; Li T; Chen K; Gala U; Harel T; Pehlivan D; Penney S; Vissers LELM; de Ligt J; Jhangiani S; Xie Y; Tsang SH; Parman Y; Sivaci M; Battaloglu E; Muzny D; Wan YW; Liu Z; Lin-Moore AT; Clark RD; Curry CJ; Link N; Schulze KL; Boerwinkle E; Dobyns WB; Allikmets R; Gibbs RA; Chen R; Lupski JR; Wangler MF; Bellen HJ Cell 2014[Sep]; 159 (1): 200-14 PMID25259927show ga Invertebrate model systems are powerful tools for studying human disease owing to their genetic tractability and ease of screening. We conducted a mosaic genetic screen of lethal mutations on the Drosophila X-chromosome to identify genes required for the development, function, and maintenance of the nervous system. We identified 165 genes, most of whose function has not been studied in vivo. In parallel, we investigated rare variant alleles in 1,929 human exomes from families with unsolved Mendelian disease. Genes that are essential in flies and have multiple human homologs were found to be likely to be associated with human diseases. Merging the human datasets with the fly genes allowed us to identify disease-associated mutations in six families and to provide insights into microcephaly associated with brain dysgenesis. This bidirectional synergism between fly genetics and human genomics facilitates the functional annotation of evolutionarily conserved genes involved in human health. äA Drosophila genetic resource of mutants to study mechanisms underlyin(epmc).pdf DeepDyve Pubget Overpricing