Results 111 to 120 of about 46,008 (253)

Inhibition of Nonsense-Mediated mRNA Decay by Antisense Morpholino Oligonucleotides Restores Functional Expression of hERG Nonsense and Frameshift Mutations in Long-QT Syndrome

, 2010
Mutations in the human ether-a-go-go-related gene (hERG) cause long-QT syndrome type 2 (LQT2). We previously described a homozygous LQT2 nonsense mutation Q1070X in which the mutant mRNA is degraded by nonsense-mediated mRNA decay (NMD) leading to a ...
Bhuiyan, Bhuiyan, Conti, Curran, Dominski, Friedman, Frischmeyer, Gong, Gong, Gritz, Holbrook, Howard, Jearawiriyapaisarn, Kapplinger, Khajavi, Kuzmiak, Le Hir, Le Roy, Linde, Lykke-Andersen, Matthew R. Stump, Millat, Nagy, Napolitano, Nicholson, Qiuming Gong, Sanguinetti, Schwartz, Shimizu, Splawski, Stalder, Tester, Trudeau, Usuki, Wu, Yao, Zhang, Zhengfeng Zhou, Zhou, Zhou   +39 more
core   +1 more source

A multipart phase 1 study of the safety, pharmacodynamics and pharmacokinetics of ALG‐055009, a novel thyroid hormone receptor beta (THR‐β) agonist for metabolic dysfunction‐associated steatohepatitis (MASH), in healthy participants

Clinical Pharmacology in Drug Development, Volume 15, Issue 2, February 2026.
Abstract ALG–055009 is an oral thyroid hormone receptor beta (THR‐β) agonist being evaluated for treating metabolic dysfunction–associated steatohepatitis (MASH). This study evaluated the safety, tolerability, pharmacokinetics, and pharmacodynamics of ALG‐055009 and bioavailability/food effect.
Hakim Charfi, Benedetta Massetto, Megan Fitzgerald, Kha Le, Stanley Wang, Ifong Kan‐Eng, Meenakshi Venkatraman, Naqvi Mohammad, Lawrence Blatt, Tse‐I Lin, Sushmita M. Chanda, John Fry   +11 more
wiley   +1 more source

Genotype-Phenotype Relationships in Long QT Syndrome : Role of Mental Stress, Adrenergic Activity and a Common KCNH2 Polymorphism [PDF]

, 2006
Long QT syndrome is a congenital or acquired arrhythmic disorder which manifests as a prolonged QT-interval on the electrocardiogram and as a tendency to develop ventricular arrhythmias which can lead to sudden death.
Paavonen, Kristian
core  

A Thorough QT Study to Assess the Effects of Milvexian on Cardiac Repolarization in Healthy Participants

Clinical Pharmacology in Drug Development, Volume 15, Issue 1, January 2026.
Abstract Milvexian is an oral factor XIa inhibitor in development for prevention of major thromboembolic conditions. This randomized, double‐blind, placebo‐ and positive‐controlled, multiple‐dose, four‐period crossover study assessed the cardic safety of milvexian (including effects on the QT interval of the electrocardiogram), with a supporting in ...
Peter Zannikos, JongHanne Park, Anna Dari, Samiha Takhtoukh, Paul Levesque, Alexei N. Plotnikov, Amitava Mitra, Antoinette Ajavon‐Hartmann, Samira Merali, Juan Jose Perez Ruixo, Navin Goyal   +10 more
wiley   +1 more source

Reliability of Early Fetal Echocardiography for Congenital Heart Disease Detection: A Preliminary Experience and Outcome Analysis of 102 Fetuses to Demonstrate the Value of a Clinical Flow-Chart Designed for At-Risk Pregnancy Management [PDF]

, 2016
Early fetal echocardiography (EFEC) is a fetal cardiac ultrasound analysis performed between the 12th and 16th week of pregnancy (compared with the usual 18-22 weeks).
Abed, M.m., CAIARO, ANGELA, CECCACCI, IRENE, Celani, S., COLLORIDI, Fiorenza, GIANCOTTI, Antonella, Messina, E., VENTRIGLIA, Flavia, Vitiello, L.   +8 more
core   +1 more source

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Molybdenum cofactor deficiency (MoCD) is an inborn error of metabolism included in the differential for refractory neonatal seizures. The prognosis is guarded, with a median reported age of death between 2.4 and 3.0 years. Mortality is primarily due to seizures and lower respiratory tract infections.
Molly M. Crenshaw, Yasmeen Midgette, Shruthi Mohan, Ruhan Wei, Mariele Anneling, Monika Williams, Milap Patel, Benjamin T. Cocanougher, Sarah P. Young, Dmitriy Niyazov, Areeg El‐Gharbawy, Ashlee R. Stiles   +11 more
wiley   +1 more source

Multifactorial QT Interval Prolongation and Takotsubo Cardiomyopathy

Case Reports in Cardiology, 2014
A 71-year-old woman collapsed while working as a grocery store cashier. CPR was performed and an AED revealed torsades de pointes (TdP). She was subsequently defibrillated resulting in restoration of sinus rhythm with a QTc interval of 544 msec.
Michael Gysel, Alexander Crystal, Jules C. Hancox, Michelle Methot, Adrian Baranchuk   +4 more
doaj   +1 more source

The physiology of survival: Breath‐hold shallow‐water diving

Experimental Physiology, EarlyView.
Andrew H. Baker, Ashley Jones, Adrian Mayhew, Carlene McAvoy, Ross Macleod, Hugh Montgomery, Craig Robertson, Jo Talbot, Mike Tipton   +8 more
wiley   +1 more source

A Novel A‐Kinase‐Anchoring Protein 9 Variant in Premature Coronary Artery Disease: A Case Series

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
AKAP9 Q2136E mutation disrupts AKAP9–PRKAR2A interaction and may contribute to early‐onset CAD. ABSTRACT Background Familial premature coronary artery disease (CAD) is often associated with genetic variants. This study investigated potential causal variants in a Chinese pedigree with premature CAD. Methods In total, nine family members were included in
Yuemiao Jiao, Minxian Wang, Guifen Qiang, Li Zhao, Ziwei Xi, Yue Yu, Chengqian Yin, Guangyuan Song   +7 more
wiley   +1 more source

Anestesia e síndrome do QT longo Anestesia e síndrome del QT largo Anesthesia and the long QT syndrome

Revista Brasileira de Anestesiologia, 2007
JUSTIFICATIVA E OBJETIVOS: As disritmias cardíacas são fatores importantes de morbimortalidade no período perioperatório. Dentre as causas de disritmias, a síndrome do QT longo, tanto em sua forma genética como adquirida deve ser lembrada, já que muitos ...
Michelle Nacur Lorentz, Flávio Gouveia Camelo Ramiro   +1 more
doaj   +1 more source