Results 241 to 250 of about 29,886 (297)
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.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
Rare DMD Gene Duplication in a Lebanese Child With Duchene Muscular Dystrophy
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT A five‐year‐old boy with clinical features of Duchenne muscular dystrophy was found to have a rare de novo DMD exon 2–9 duplication. Reporting such atypical duplications improves genotype–phenotype interpretation and highlights the need for multidisciplinary care, particularly in resource‐limited settings.
Nada Assaf +4 more
wiley +1 more source
Comprehensive Physiology, Volume 16, Issue 1, February 2026.Cardiac I/R activates adipose tissue. iatATGL‐KO increases adipocyte size and reduces lipogenesis in WAT, induces whitening and inflammation in BAT, and reduces circulating NEFA and adiponectin levels. As a consequence, cardiac function is reduced, scar formation enhanced, and remote myocardium shows elevated mechanical stress and oxygen consumption ...
Heba Zabri +12 more
wiley +1 more source
Molecular Ecology Resources, Volume 26, Issue 2, February 2026.ABSTRACT High‐quality reference genome assemblies have become essential for deepening our understanding of biodiversity, yet obtaining them for many species remains surprisingly challenging. Drawing on experiences from the European Reference Genome Atlas (ERGA) community, we focus on permit and sample‐handling procedures leading up to nucleic acid ...
Katja Reichel +32 more
wiley +1 more source
A Novel Human Cellular System for Studying Normal Aging and for Anti‐Aging Discovery
Aging Cell, Volume 25, Issue 2, February 2026.This study introduces a human cellular aging model using placental trophoblasts (hTSC‐STBs) that mimics key aging features like senescence and genomic instability. It aligns with human tissue aging and responds to anti‐aging treatments, offering a scalable platform to screen potential therapies and bridge lab findings to clinical applications ...
Zhen Feng +14 more
wiley +1 more source
Proximal Pulmonary Artery Stiffening as a Biomarker of Cardiopulmonary Aging
Aging Cell, Volume 25, Issue 2, February 2026.Mouse models revealed age‐associated increased circumferential stiffness of the proximal pulmonary artery that was associated with reorientation of collagen and decreased function of the lung and right ventricle. Age‐related transcriptional changes were indicative of senescence, ECM turnover, TGFβ signaling, and altered intercellular signaling among ...
Ruben De Man +22 more
wiley +1 more source
A Cellular and Transcriptomic Atlas of the Aged Mouse Hematopoietic System
Aging Cell, Volume 25, Issue 2, February 2026.Transcriptomic and cellular atlas of peripheral blood mononuclear cells (PBMCs) and stem and progenitor cells of the hematopoietic compartment (HSPCs) of aged C57Bl/6J mice. Analysis shows global alterations related to immune function and identifies potential pathways and cell populations that can be targeted for therapeutic intervention.
Ryan R. White +9 more
wiley +1 more source
Clinical Genetics, Volume 109, Issue 2, Page 363-367, February 2026.We report a unique case of early‐onset colorectal cancer with both a germline MSH6 variant and constitutional mosaic MLH1 epimutation, revealing a possible digenic mechanism underlying Lynch syndrome. This case highlights the diagnostic complexity of mismatch repair deficiency and the value of integrative tumor–germline molecular profiling.
Aasem Abu Shtaya +7 more
wiley +1 more source