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10.1016/j.ajhg.2015.04.022 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2015.04.022 C4457949!4457949!26046368     free     free     free Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Hum+Genet 2015 ; 96 (6): 1001-7 Nephropedia Template TP {{tp|p=26046368|t=2015. Mutations in the Gene Encoding the E2 Conjugating Enzyme UBE2T Cause Fanconi Anemia |pdf=|usr=}}{{26046368}} gab.com Text Mutations in the Gene Encoding the E2 Conjugating Enzyme UBE2T Cause Fanconi Anemia JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=26046368 #FOAvip Fanconi anemia (FA) is a rare genetic disorder characterized by genome instability, increased cancer susceptibility, progressive bone marrow failure (BMF), and various developmental abnormalities resulting from the defective FA pathway. FA is caused by mutations in genes that mediate repair processes of interstrand crosslinks and/or DNA adducts generated by endogenous aldehydes. The UBE2T E2 ubiquitin conjugating enzyme acts in FANCD2/FANCI monoubiquitination, a critical event in the pathway. Here we identified two unrelated FA-affected individuals, each harboring biallelic mutations in UBE2T. They both produced a defective UBE2T protein with the same missense alteration (p.Gln2Glu) that abolished FANCD2 monoubiquitination and interaction with FANCL. We suggest this FA complementation group be named FA-T. Twit Text FOAVip Mutations in the Gene Encoding the E2 Conjugating Enzyme UBE2T Cause Fanconi Anemia ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=26046368 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26046368 #FOAvip English Wikipedia <ref>{{Cite pmid|26046368}}</ref> Mutations in the Gene Encoding the E2 Conjugating Enzyme UBE2T Cause Fanconi Anemia #MMPMID26046368 Hira A; Yoshida K; Sato K; Okuno Y; Shiraishi Y; Chiba K; Tanaka H; Miyano S; Shimamoto A; Tahara H; Ito E; Kojima S; Kurumizaka H; Ogawa S; Takata M; Yabe H; Yabe M Am J Hum Genet 2015[Jun]; 96 (6): 1001-7 PMID26046368show ga Fanconi anemia (FA) is a rare genetic disorder characterized by genome instability, increased cancer susceptibility, progressive bone marrow failure (BMF), and various developmental abnormalities resulting from the defective FA pathway. FA is caused by mutations in genes that mediate repair processes of interstrand crosslinks and/or DNA adducts generated by endogenous aldehydes. The UBE2T E2 ubiquitin conjugating enzyme acts in FANCD2/FANCI monoubiquitination, a critical event in the pathway. Here we identified two unrelated FA-affected individuals, each harboring biallelic mutations in UBE2T. They both produced a defective UBE2T protein with the same missense alteration (p.Gln2Glu) that abolished FANCD2 monoubiquitination and interaction with FANCL. We suggest this FA complementation group be named FA-T. äMutations in the Gene Encoding the E2 Conjugating Enzyme UBE2T Cause F(epmc).pdf DeepDyve Pubget Overpricing