Results 71 to 80 of about 2,693,618 (154)

Long QT Syndrome With KCNH2/SCN5A Dual Gene Mutation Leading to Electrical Storm

JACC: Case Reports
Long QT syndrome (LQTS) is a genetic ion channel abnormality characterized by a long QT interval and torsades de pointes. Torsades de pointes can progress to ventricular fibrillation and sudden cardiac death, and stressful conditions such as infections can be an acquired trigger of malignant arrhythmias.
Ding, Qian, Lu, Ling, Li, Shuang, Guo, Mu   +3 more
openaire   +3 more sources

Ubiquitin and ubiquitin‐like modifications in the endoplasmic reticulum stress response

The FEBS Journal, Volume 293, Issue 18, Page 5481-5513, September 2026.
Endoplasmic reticulum (ER) stress activates various proteostasis control processes, including the unfolded protein response, ribosome‐associated quality control, and ER‐associated degradation. Ubiquitin and ubiquitin‐like modifications dynamically regulate these processes to determine cell fate, promoting adaptation or inducing cell death.
Tony Avril, Matthieu Le Gallo, Elodie Lafont   +2 more
wiley   +1 more source

Common Genetic Variation Near the Phospholamban Gene Is Associated with Cardiac Repolarisation: Meta-Analysis of Three Genome-Wide Association Studies [PDF]

, 2009
To identify loci affecting the electrocardiographic QT interval, a measure of cardiac repolarisation associated with risk of ventricular arrhythmias and sudden cardiac death, we conducted a meta-analysis of three genome-wide association studies (GWAS ...
Rice, K. (Kenneth), Samani, NJ, Jamshidi, Yalda, Chris Wallace (210182), Tobin, M., Carter, Nicholas D., Panos Deloukas, Sanna, Serena, DCCT EDIC Res Grp, Pfeufer, Arne, Snieder, Harold; id_orcid, Fu, J, Patricia B. Munroe (7588601), de Bakker, PIW, Kenneth Rice, Carter, N.D. (Nicholas), Zheng, DL, Wain, LV, Caulfield, M. (Mark), Fu, Jingyuan, Sanna, S, Arking Dan E., Morris Brown, Steve Jeffery, Andrew D. Paterson, Newhouse, Stephen; id_orcid, Deloukas, P, Fu, J. (Jingyuan), John M. Connell (7588580), Nolte, I.M., Sanna, S., Paul I W de Bakker, Dalageorgou, C., Wallace, C. (Chris), Lathrop, Mark, Serena Sanna, null null, Waggott, D. (Daryl), Rice Kenneth, Ilja M. Nolte, John Connell, QTGEN Consortium, Farrall Martin, Brown, M, Morris Brown (238594), Samani, Nilesh J., de Bakke, Paul I. W., Martin Tobin, Gwilliam, R. (Rhian), Gwilliam Rhian, QTSCD Consortium, Nilesh J. Samani (7579793), Farrall, M, Rhian Gwilliam, Jeffery, S., Wallace Chris, Irina Savelieva (262110), Wallace,C., Arne Pfeufer, Newton-Cheh, Christopher, Harold Snieder (103613), Martin Farrall, Gwilliam, Rhian, Arking, D.E., Soranzo, N, Newhouse, SJ, Jamshidi, YM, Snieder Harold, Louise V. Wain (7588511), Spector, Tim D., Zheng, D. (Dongling), Zeggini, E, Waggott, Daryl, Andrew D Paterson, Fu Jingyuan, Snieder, H., Zheng, Dongling, Newton-Cheh Christopher, Arking, D.E. (Dan), Munroe, PB, de Bakker, Paul I. W., Wallace, C, Arking, DE, Zheng, D., Newton-Cheh, C., Nicholas D. Carter (7588595), Jamshidi Yalda, Fu, Jingyuan; id_orcid, Dongling Zheng, Chris Wallace, Eijgelsheim, Mark, Louise V Wain, Lathrop, M, Caulfield, M., Tim D. Spector (7588592), Zeggini, Eleftheria, Irina Savelieva, Serena Sanna (145737), Stephen J. Newhouse (7588577), Ilja M Nolte, Pfeufer, A., Folkert W. Asselbergs, Daryl Waggott, Zeggini Eleftheria, Carter, N.D., Folkert W Asselbergs, Pfeufer Arne, Dan E Arking, Lathrop, M. (Mark), Wallace, Chris, Mark Eijgelsheim (110185), Samani, N.J., Waggott, D, Mark Eijgelsheim, Stephen J Newhouse, Munroe, P. (Patricia), Harold Snieder, ?, ?, Tobin Martin, Patricia B Munroe, Sanna, Serena; id_orcid, Pfeufer, A, Savelieva, I. (Irina), Gwilliam, R, Soranzo, N., Yalda Jamshidi, Paul I.W. de Bakker (7588583), Mark Lathrop, Fu, JY, Connell, J. (John), Martin D. Tobin (7581161), Chrysoula Dalageorgou, Soranzo, N. (Nicole), Arne Pfeufer (76634), Dominiczak, A, Savelieva, Irina, Rice, Kenneth, Jeffery, Steve, Paterson, Andrew D., The DCCT/EDIC Research Group, Waggott, D., Snieder, H, Steve Jeffery (262137), Wellcome Trust Case Control Consor, Eleftheria Zeggini, Jingyuan Fu, Farrall, M., Bakker, P.I.W. (Paul) de, Patricia B. Munroe, Brown, M., Deloukas Panos, Brown Morris, Fu, J., Spector Tim D., Paterson, AD, Eleftheria Zeggini (21702), Nilesh J. Samani, Jeffery, S, DCCT/EDIC Research Group, Nicholas D Carter, Zeggini, E. (Eleftheria), Rice, K., Savelieva Irina, Farrall, Martin, Wain, L.V., Nolte, Ilja M., Tobin, Martin, Samani Nilesh J., Jamshidi, Y, Newhouse, S.J. (Stephen), Andrew D. Paterson (7588598), Nicole Soranzo (12361), Tim D Spector, Wain, Louise V., Savelieva, I., Spector, T.D. (Timothy), Nolte Ilja M., Nolte, I.M. (Ilja), Rice, K, Ilja M. Nolte (7588574), Martin Farrall (62715), Munroe, Patricia B., Zheng Dongling, Gwilliam, R., Nolte, Ilja M.; id_orcid, Eijgelsheim, M., Soranzo, Nicole, Eijgelsheim, M. (Mark), Eijgelsheim Mark, Paterson Andrew D., Carter Nicholas D., Jingyuan Fu (102399), Savelieva, I, Asselbergs, FW, Sanna Serena, Dan E. Arking, Dalageorgou, Chrysoula, Caulfield, Mark, Jeffery, S. (Steve), Anna Dominiczak (262121), Asselbergs, F.W., Deloukas, P., Pfeufer, A. (Arne), Christopher Newton-Cheh, Newhouse, S.J., Wain, L.V. (Louise), Nicole Soranzo, Farrall, M. (Martin), Paul I. W. de Bakker, Asselbergs, Folkert W., Nicholas D. Carter, Dominiczak, A., Chrysoula Dalageorgou (262115), de Bakker, Paul I.W., Wellcome Trust Case Control Consortium, Yalda Jamshidi (262159), Lathrop Mark, Asselbergs, F.W. (Folkert), Newhouse, Stephen J., Brown, Morris, Caulfield, M, Jamshidi, Y., Dalageorgou, C, Snieder, H. (Harold), Louise V. Wain, Wain Louise V., Dalageorgou, C. (Chrysoula), Munroe, P.B., Brown, M.J. (Morris), Samani, N.J. (Nilesh), Zeggini, E., de Bakker, PI, Caulfield Mark, Anna Dominiczak, Eijgelsheim, M, Jamshidi, Y. (Yalda), Deloukas, Panos, Jeffery, Steve Jeffery, Dominiczak Anna, Tobin, M, Rhian Gwilliam (108263), Newton-Cheh, C, Newhouse Stephen J., Spector, T.D., Folkert W. Asselbergs (7588589), Snieder, Harold, Dongling Zheng (262112), Arking, Dan E., Munroe Patricia B., de Bakker, P.I., Demissie, S. (Serkalem), Dan E. Arking (7588586), Mark J. Caulfield (7588472), Tim D. Spector, Mark Lathrop (17971), Christopher Newton-Cheh (79953), Stephen J. Newhouse, Nolte, IM, Paterson, A.D. (Andrew), Zheng, D, Sanna, S. (Serena), Connell, J, Newton-Cheh, C. (Christopher), Connell John, Jeffery Steve, Tobin, M. (Martin), Mark Caulfield, Panos Deloukas (21564), Carter, ND, de Bakker Paul I. W., Asselbergs Folkert W., Dominiczak, A. (Anna), Soranzo Nicole, Paterson, A.D., Dominiczak, Anna, Spector, TD, Nilesh J Samani, Connell, J., Daryl Waggott (135190), Connell, John, Waggott Daryl, Kenneth Rice (211836), Dalageorgou Chrysoula, de Bakker, Paul, Nolte, IM;Wallace, C;Newhouse, SJ;Waggott, D;Fu, J;Soranzo, N;Gwilliam, R;Deloukas, P;Savelieva, I;Zheng, D;Dalageorgou, C;Farrall, M;Samani, NJ;Connell, J;Brown, M;Dominiczak, A;Lathrop, M;Zeggini, E;Wain, LV;Newton-Cheh, C;Eijgelsheim, M;Rice, K;de Bakker, PI;Pfeufer, A;Sanna, S;Arking, DE;Asselbergs, FW;Spector, TD;Carter, ND;Jeffery, S;Tobin, M;Caulfield, M;Snieder, H;Paterson, AD;Munroe, PB;Jamshidi, Y, Rice, Ken   +285 more
core   +1 more source

Therapeutic and Predicted Significance of PKLR in Patients With Cholangiocarcinoma

Cancer Reports, Volume 9, Issue 8, August 2026.
ABSTRACT Background Cholangiocarcinoma (CCA) is a highly heterogeneous malignancy with a poor prognosis. However, the molecular mechanisms underlying CCA and its treatment options remain unclear and limited. Aims This study aims to identify novel prognostic biomarkers and potential therapeutic targets for CCA through transcriptomics and whole‐exome ...
Biyan Gong, Xuejun Xu, Tubing Xu, Dong Zhang, Li Yang, Cailing Li, Tingjun Li, Yuandeng Luo   +7 more
wiley   +1 more source

Genetic landscape of patients with atypical absence status epilepticus: A systematic review

Epilepsia Open, Volume 11, Issue 4, Page 1111-1125, August 2026.
Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu, Giada Giovannini, Stefano Meletti   +2 more
wiley   +1 more source

The effects of melatonin on KCNQ, KCNH2 gene expression and QT duration in exprerimantally hypertensive male rats [PDF]

, 2015
Sağlık Bilimleri Enstitüsü, Fizyoloji Ana Bilim DalıBu araştırma ile melatoninin kan basıncı, QT ve QTc süresi ile KCNQ1-5 ve KCNH2 gen ekspresyonlarında meydana gelen değişiklikler ile bu değişiklikler arasındaki ilişkinin araştırılması amaçlanmıştır ...
Ovalı, Mehmet Akif
core   +1 more source

Investigação de variantes gênicas de canais iônicos em pacientes com síndrome do QT longo

Arquivos Brasileiros de Cardiologia, 2011
FUNDAMENTO: A síndrome do QT longo (SQTL) é uma síndrome arrítmica herdada com aumento do intervalo QT e risco de morte súbita. Mutações nos genes KCNQ1, KCNH2 e SCN5A respondem por 90% dos casos com genótipo determinado, e a genotipagem é informativa ...
Ernesto Curty, Fernando Eugênio dos Santos Cruz, Fabiane Santos Lima, Jorge Luiz Albuquerque Coutinho, Rosane Silva, Turán Peter Ürményi, Antônio Carlos Campos Carvalho, Edson Rondinelli   +7 more
doaj  

Establishment of a human-induced pluripotent stem cell line from a long QT syndrome type 2 patient harboring a KCNH2 mutation

Stem Cell Research
Long QT syndrome type 2 (LQT2) is a heart disorder resulting from a loss-of-function mutation in the KCNH2 gene that causes loss of Kv11.1 channel function, potentially resulting in syncope, arrhythmias, and sudden death.
Dasom Mun, Ji-Young Kang, Malgeum Park, Gyeongseo Yoo, Hyoeun Kim, Nuri Yun, You Mi Hwang, Boyoung Joung   +7 more
doaj   +1 more source

From gene regulation to membrane excitability: A new role for thyroid hormone in skeletal muscle

The Journal of Physiology, EarlyView.
Eric N. Jimenez‐Vazquez, David K. Jones   +1 more
wiley   +1 more source

Silencing the Mutant KCNH2 Allele to Reduce the Effects of Long QT Syndrome Type 2

Frontiers in Bioscience-Landmark
Background: Long-QT syndrome type 2 (LQTS2), which is associated with life-threatening cardiac arrhythmias, is caused by pathogenic heterozygous loss-of-function mutations in the KCNH2 gene.
Ronald Wilders
doaj   +1 more source