Results 221 to 230 of about 198,729 (300)

Physiological Basis of Sex Differences in Human Performance and Exercise‐Associated Pathology

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT The presence of sex differences in human physical performance is well‐established and shaped by distinct endocrine, anatomical and physiological mechanisms. Despite sustained advances, our understanding of how inherent biological factors drive variations in exercise capacity and related pathologies is still developing.
David A. Holdsworth   +7 more
wiley   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

open access: yesClinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau   +7 more
wiley   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

open access: yesClinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis   +9 more
wiley   +1 more source

Deletion of cardiac fibroblast growth factor-23 beneficially impacts myocardial energy metabolism in left ventricular hypertrophy. [PDF]

open access: yesNPJ Metab Health Dis
Latic N   +13 more
europepmc   +1 more source

Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond

open access: yesCell Proliferation, EarlyView.
The endoplasmic reticulum membrane protein complex (EMC) is an evolutionarily conserved, multi‐subunit transmembrane protein complex crucial to membrane protein biogenesis and cellular protein quality control. This review systematically examines the structure, functions and disease‐associated regulatory mechanisms of EMC across multiple organ systems ...
Yan Qiao   +6 more
wiley   +1 more source

Hyperaldosteronism in the Pathophysiology and Management of Cardiovascular‐Kidney‐Metabolic Syndrome

open access: yesDiabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Cardiovascular‐kidney‐metabolic (CKM) syndrome is defined by the pathologic interconnections between obesity, diabetes, chronic kidney disease and cardiovascular disease. An important and underrecognized pathophysiologic factor underlying CKM syndrome is obesity‐induced aldosterone excess.
Evan Zeitler   +4 more
wiley   +1 more source

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