{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["6(9)"],"submitter":["Bohnen MS"],"pubmed_abstract":["Heterozygous loss of function mutations in the KCNK3 gene cause hereditary pulmonary arterial hypertension (PAH). KCNK3 encodes an acid-sensitive potassium channel, which contributes to the resting potential of human pulmonary artery smooth muscle cells. KCNK3 is widely expressed in the body, and dimerizes with other KCNK3 subunits, or the closely related, acid-sensitive KCNK9 channel. We engineered homomeric and heterodimeric mutant and nonmutant KCNK3 channels associated with PAH. Using whole-cell patch-clamp electrophysiology in human pulmonary artery smooth muscle and COS7 cell lines, we determined that homomeric and heterodimeric mutant channels in heterozygous KCNK3 conditions lead to mutation-specific severity of channel dysfunction. Both wildtype and mutant KCNK3 channels were acti"],"journal":["Journal of the American Heart Association"],"pagination":["e006465"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5634293"],"repository":["biostudies-literature"],"pubmed_title":["The Impact of Heterozygous KCNK3 Mutations Associated With Pulmonary Arterial Hypertension on Channel Function and Pharmacological Recovery."],"pmcid":["PMC5634293"],"pubmed_authors":["Chung WK","Terrenoire C","Kass RS","Bohnen MS","Roman-Campos D","Sampson KJ","Jnani J"],"additional_accession":[]},"is_claimable":false,"name":"The Impact of Heterozygous KCNK3 Mutations Associated With Pulmonary Arterial Hypertension on Channel Function and Pharmacological Recovery.","description":"Heterozygous loss of function mutations in the KCNK3 gene cause hereditary pulmonary arterial hypertension (PAH). KCNK3 encodes an acid-sensitive potassium channel, which contributes to the resting potential of human pulmonary artery smooth muscle cells. KCNK3 is widely expressed in the body, and dimerizes with other KCNK3 subunits, or the closely related, acid-sensitive KCNK9 channel. We engineered homomeric and heterodimeric mutant and nonmutant KCNK3 channels associated with PAH. Using whole-cell patch-clamp electrophysiology in human pulmonary artery smooth muscle and COS7 cell lines, we determined that homomeric and heterodimeric mutant channels in heterozygous KCNK3 conditions lead to mutation-specific severity of channel dysfunction. Both wildtype and mutant KCNK3 channels were acti","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Sep","modification":"2025-04-27T03:57:20.428Z","creation":"2019-03-27T02:58:33Z"},"accession":"S-EPMC5634293","cross_references":{"pubmed":["28889099"],"doi":["10.1161/JAHA.117.006465"]}}