Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: KCNH2: 167G>A; Arg56Gln
Ion channel model reduction using manifold boundaries.
Journal Of The Royal Society, Interface
Whittaker, Dominic G DG; Wang, Jiahui J; Shuttleworth, Joseph G JG; Venkateshappa, Ravichandra R; Kemp, Jacob M JM; Claydon, Thomas W TW; Mirams, Gary R GR
Electrophysiological characterization of the hERG R56Q LQTS variant and targeted rescue by the activator RPR260243.
The Journal Of General Physiology
Kemp, Jacob M JM; Whittaker, Dominic G DG; Venkateshappa, Ravichandra R; Pang, ZhaoKai Z; Johal, Raj R; Sergeev, Valentine V; Tibbits, Glen F GF; Mirams, Gary R GR; Claydon, Thomas W TW
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.
The Journal Of Physiology
Perry, Matthew D MD; Ng, Chai Ann CA; Phan, Kevin K; David, Erikka E; Steer, Kieran K; Hunter, Mark J MJ; Mann, Stefan A SA; Imtiaz, Mohammad M; Hill, Adam P AP; Ke, Ying Y; Vandenberg, Jamie I JI
Ubiquitination-dependent quality control of hERG K+ channel with acquired and inherited conformational defect at the plasma membrane.
Molecular Biology Of The Cell
Apaja, Pirjo M PM; Foo, Brian B; Okiyoneda, Tsukasa T; Valinsky, William C WC; Barriere, Herve H; Atanasiu, Roxana R; Ficker, Eckhard E; Lukacs, Gergely L GL; Shrier, Alvin A
Mechanistic basis for type 2 long QT syndrome caused by KCNH2 mutations that disrupt conserved arginine residues in the voltage sensor.
The Journal Of Membrane Biology
McBride, Christie M CM; Smith, Ashley M AM; Smith, Jennifer L JL; Reloj, Allison R AR; Velasco, Ellyn J EJ; Powell, Jonathan J; Elayi, Claude S CS; Bartos, Daniel C DC; Burgess, Don E DE; Delisle, Brian P BP
Mechanism of loss of Kv11.1 K+ current in mutant T421M-Kv11.1-expressing rat ventricular myocytes: interaction of trafficking and gating.
Circulation
Balijepalli, Sadguna Y SY; Lim, Evi E; Concannon, Sarah P SP; Chew, Chen L CL; Holzem, Kassandra E KE; Tester, David J DJ; Ackerman, Michael J MJ; Delisle, Brian P BP; Balijepalli, Ravi C RC; January, Craig T CT
Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels.
HERG channel (dys)function revealed by dynamic action potential clamp technique.
Biophysical Journal
Berecki, Géza G; Zegers, Jan G JG; Verkerk, Arie O AO; Bhuiyan, Zahurul A ZA; de Jonge, Berend B; Veldkamp, Marieke W MW; Wilders, Ronald R; van Ginneken, Antoni C G AC