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: 742T>C; Trp248Arg
shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele.
International Journal Of Molecular Sciences
Cócera-Ortega, Lucía L; Wilders, Ronald R; Kamps, Selina C SC; Fabrizi, Benedetta B; Huber, Irit I; van der Made, Ingeborg I; van den Bout, Anouk A; de Vries, Dylan K DK; Gepstein, Lior L; Verkerk, Arie O AO; Pinto, Yigal M YM; Tijsen, Anke J AJ
A benzodiazepine activator locks Kv7.1 channels open by electro-mechanical uncoupling.
Communications Biology
Schreiber, Julian A JA; Möller, Melina M; Zaydman, Mark M; Zhao, Lu L; Beller, Zachary Z; Becker, Sebastian S; Ritter, Nadine N; Hou, Panpan P; Shi, Jingyi J; Silva, Jon J; Wrobel, Eva E; Strutz-Seebohm, Nathalie N; Decher, Niels N; Schmitt, Nicole N; Meuth, Sven G SG; Düfer, Martina M; Wünsch, Bernhard B; Cui, Jianmin J; Seebohm, Guiscard G
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D