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: 1576A>G; Lys526Glu
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Nature Communications
Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA
Ca2+-Calmodulin and PIP2 interactions at the proximal C-terminus of Kv7 channels.
Channels (Austin, Tex.)
Tobelaim, William S WS; Dvir, Meidan M; Lebel, Guy G; Cui, Meng M; Buki, Tal T; Peretz, Asher A; Marom, Milit M; Haitin, Yoni Y; Logothetis, Diomedes E DE; Hirsch, Joel A JA; Attali, Bernard B
Competition of calcified calmodulin N lobe and PIP2 to an LQT mutation site in Kv7.1 channel.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Tobelaim, William Sam WS; Dvir, Meidan M; Lebel, Guy G; Cui, Meng M; Buki, Tal T; Peretz, Asher A; Marom, Milit M; Haitin, Yoni Y; Logothetis, Diomedes E DE; Hirsch, Joel Alan JA; Attali, Bernard B