{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lim CS"],"funding":["State Major Research and Development Program of China","NICHD NIH HHS","Howard Hughes Medical Institute","NIMH NIH HHS","National Institute of Health","National Natural Science Foundation of China","NIAAA NIH HHS","NINDS NIH HHS","Chinese Ministry of Education","National Honor Scientist Program of Korea","Robert Wood Johnson Foundation","Japan Society for the Promotion of Science"],"pagination":["537-552"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5393050"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["31(6)"],"pubmed_abstract":["Rapid advances in genetics are linking mutations on genes to diseases at an exponential rate, yet characterizing the gene-mutation-cell-behavior relationships essential for precision medicine remains a daunting task. More than 350 mutations on small GTPase <i>BRaf</i> are associated with various tumors, and ∼40 mutations are associated with the neurodevelopmental disorder cardio-facio-cutaneous syndrome (CFC). We developed a fast cost-effective lentivirus-based rapid gene replacement method to interrogate the physiopathology of BRaf and ∼50 disease-linked BRaf mutants, including all CFC-linked mutants. Analysis of simultaneous multiple patch-clamp recordings from 6068 pairs of rat neurons with validation in additional mouse and human neurons and multiple learning tests from 1486 rats ident"],"journal":["Genes & development"],"pubmed_title":["BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method."],"pmcid":["PMC5393050"],"funding_grant_id":["AA023797","R01 NS089578","R37 NS036715","R01 NS092548","NSFC81625006","MH64856","NSFC31471024","NS089578","NSFC30728012","NRF2016R1D1A1B03931525","R01 AA023797","NS065183","F30 MH108321","MH108321","R01 NS053570","R00 NS065183","R01 MH064856","R21 NS094980","NS053570","R01 HD064743","R01 NS036715","K99 NS065183","NS091452","NS092548","HD064743","R01 NS091452","NRF2012R1A3A1050385","B13026","NS036715","2016YFA0500400"],"pubmed_authors":["Araki Y","Kang X","Chang Q","Zhang H","Lim CS","Choi S","Wang S","Hoang ET","Pang ZP","Zhu JJ","Bu Q","Mirabella V","Shen Y","Kaang BK","Huganir RL"],"additional_accession":[]},"is_claimable":false,"name":"BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.","description":"Rapid advances in genetics are linking mutations on genes to diseases at an exponential rate, yet characterizing the gene-mutation-cell-behavior relationships essential for precision medicine remains a daunting task. More than 350 mutations on small GTPase <i>BRaf</i> are associated with various tumors, and ∼40 mutations are associated with the neurodevelopmental disorder cardio-facio-cutaneous syndrome (CFC). We developed a fast cost-effective lentivirus-based rapid gene replacement method to interrogate the physiopathology of BRaf and ∼50 disease-linked BRaf mutants, including all CFC-linked mutants. Analysis of simultaneous multiple patch-clamp recordings from 6068 pairs of rat neurons with validation in additional mouse and human neurons and multiple learning tests from 1486 rats ident","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Mar","modification":"2026-05-30T08:56:17.351Z","creation":"2019-03-27T02:41:24Z"},"accession":"S-EPMC5393050","cross_references":{"pubmed":["28404629"],"doi":["10.1101/gad.294413.116"]}}