Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: KCNQ1: 719A>G; His240Arg
Structural basis for KCNE3 modulation of potassium recycling in epithelia.
Science Advances
Kroncke, Brett M BM; Van Horn, Wade D WD; Smith, Jarrod J; Kang, CongBao C; Welch, Richard C RC; Song, Yuanli Y; Nannemann, David P DP; Taylor, Keenan C KC; Sisco, Nicholas J NJ; George, Alfred L AL; Meiler, Jens J; Vanoye, Carlos G CG; Sanders, Charles R CR
IKs channels open slowly because KCNE1 accessory subunits slow the movement of S4 voltage sensors in KCNQ1 pore-forming subunits.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Ruscic, Katarina J KJ; Miceli, Francesco F; Villalba-Galea, Carlos A CA; Dai, Hui H; Mishina, Yukiko Y; Bezanilla, Francisco F; Goldstein, Steve A N SA