Results 211 to 220 of about 4,977,534 (400)

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio   +12 more
wiley   +1 more source

Left ventricular pressure-loading improves pressure-induced right ventricular remodeling by redistributing mechanical load and reducing mechanosignaling. [PDF]

open access: yesPhysiol Rep
Lee XA   +12 more
europepmc   +1 more source

Chronic right ventricular pressure overload results in a hyperplastic rather than a hypertrophic myocardial response

open access: yesJournal of Anatomy, 2008
Boudewijn P. J. Leeuwenburgh   +8 more
semanticscholar   +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, EarlyView.
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

Non-invasive left ventricular pressure-volume loops from cardiovascular magnetic resonance imaging and brachial blood pressure: validation using pressure catheter measurements. [PDF]

open access: yesEur Heart J Imaging Methods Pract, 2023
Arvidsson PM   +8 more
europepmc   +1 more source

SUPPORT OF THE SYSTEMIC CIRCULATION AND LEFT VENTRICULAR ASSIST BY SYNCHRONOUS PULSATION OF EXTRAMURAL PRESSURE

open access: bronze, 1965
William C. Birtwell   +5 more
openalex   +1 more source

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