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10.1080/21675511.2015.1131884 http://scihub22266oqcxt.onion/10.1080/21675511.2015.1131884 C4838317!4838317!27141410     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Rare+Dis 2016 ; 4 (1): ä Nephropedia Template TP {{tp|p=27141410|t=2016. The conditional KO approach: Cre/Lox technology in human neurons |pdf=|usr=}}{{27141410}} gab.com Text The conditional KO approach: Cre/Lox technology in human neurons JO: Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=27141410 #FOAvip The use of human pluripotent stem cells to model human diseases has become a new standard in biomedical sciences. To this end, patient-derived somatic cells are studied in vitro to mimic human pathological conditions. Here, we describe an alternative experimental strategy, the ?conditional KO approach?, which allows engineering disease-relevant mutations in pluripotent stem cells from healthy donors. In combination with the Cre/Lox technology, this strategy enables us to study the molecular causes of human diseases independent of the genetic background or of genetic alterations induced by clonal selection. As a proof-of-principle, we generated pluripotent stem cells with conditional loss-of-function mutations in the human STXBP1 gene that encodes Munc18-1. Using neurons derived from these cells, we show that heterozygous disruption of STXBP1 produces a specific and selective impairment in synaptic transmission that may account for the severe neurological disease caused by such mutations in human patients. Twit Text FOAVip The conditional KO approach: Cre/Lox technology in human neurons ????Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=27141410 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27141410 #FOAvip English Wikipedia <ref>{{Cite pmid|27141410}}</ref> The conditional KO approach: Cre/Lox technology in human neurons #MMPMID27141410 Patzke C; Südhof TC Rare Dis 2016[]; 4 (1): ä PMID27141410show ga The use of human pluripotent stem cells to model human diseases has become a new standard in biomedical sciences. To this end, patient-derived somatic cells are studied in vitro to mimic human pathological conditions. Here, we describe an alternative experimental strategy, the ?conditional KO approach?, which allows engineering disease-relevant mutations in pluripotent stem cells from healthy donors. In combination with the Cre/Lox technology, this strategy enables us to study the molecular causes of human diseases independent of the genetic background or of genetic alterations induced by clonal selection. As a proof-of-principle, we generated pluripotent stem cells with conditional loss-of-function mutations in the human STXBP1 gene that encodes Munc18-1. Using neurons derived from these cells, we show that heterozygous disruption of STXBP1 produces a specific and selective impairment in synaptic transmission that may account for the severe neurological disease caused by such mutations in human patients. äThe conditional KO approach: Cre/Lox technology in human neurons (epmc).pdf DeepDyve Pubget Overpricing