Results 181 to 190 of about 128,678 (309)

Promoting Autophagy Mitigates Stress‐Induced Remodeling in Patient iPSC‐CMs with the Phospholamban R9C Mutation

open access: yesAdvanced Science, Volume 13, Issue 7, 3 February 2026.
The Phospholamban (PLN) R9C mutation reduces SERCA2a binding, increasing calcium recycling and baseline contractility. However, the excess of free PLN promotes pentamer formation, limiting phosphorylation and blunting β‐adrenergic signaling. Under cardiac stress, enhanced functional demands overwhelm proteostasis in PLN R9C cells, leading to misfolded ...
Qi Yu   +10 more
wiley   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen   +10 more
wiley   +1 more source

Indications for Surgery in Obstructive Hypertrophic Cardiomyopathy

open access: yesJournal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021
Mark V. Sherrid
doaj   +1 more source

A Genotype-phenotype Taxonomy of Hypertrophic Cardiomyopathy

open access: gold
Lara Curran   +26 more
openalex   +1 more source

CYP2C19 genotype testing for clopidogrel: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)

open access: yesBritish Journal of Clinical Pharmacology, Volume 92, Issue 2, Page 329-347, February 2026.
Clopidogrel, an antiplatelet agent, is currently licensed in the United Kingdom for the prevention and treatment of atherothrombotic events in cerebrovascular disease, coronary artery disease and peripheral arterial disease. Clopidogrel requires metabolic activation by the cytochrome P450 enzyme CYP2C19 to be effective.
Cinzia Dello Russo   +22 more
wiley   +1 more source

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