Results 61 to 70 of about 1,238 (171)
Orphanet Journal of Rare Diseases, 2019 Objective To investigate differences in cardiac manifestations of patients affected by laminopathy, according to the presence or absence of neuromuscular involvement at presentation.
Raffaello Ditaranto +15 more
doaj +1 more source
Smart Medicine, Volume 5, Issue 3, June 2026.This study integrates transcriptomic, lipidomic, and metabolomic profiling of the heart, lung, skin, and serum from Hutchinson–Gilford progeria syndrome (HGPS) mouse models and human progeroid laminopathy (PL) cohorts. Through multi‐organ analyses, we reveal organ‐specific aging signatures, and importantly, cross‐species serum metabolomics identify ...
Lidan Hu +11 more
wiley +1 more source
Sterile inflammation in laminopathies
European Journal of Cell BiologySterile inflammation, an immune response triggered in the absence of pathogens, plays a key role in various chronic diseases, including aging-related disorders, cancer, and autoimmune conditions. This process is driven by damage-associated molecular patterns, such as self-DNA in the cytosol, which activate innate immune pathways and contribute to ...
Rafael Cancado de Faria, Susana Gonzalo
openaire +2 more sources
LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy
Архивъ внутренней медициныEmery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C.
E. V. Resnik +5 more
doaj +1 more source
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy
Folia Neuropathologica, 2016 Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects.
Agnieszka Madej-Pilarczyk +1 more
doaj +1 more source
Dynamic expression of lamin B1 during adult neurogenesis in the vertebrate brain
Developmental Dynamics, Volume 255, Issue 2, Page 187-208, February 2026.Abstract Background In mammals, specific brain regions such as the dentate gyrus (DG) of the hippocampus and the subventricular zone (SVZ) of the lateral ventricles harbor adult neural stem/progenitor cells (ANSPCs) that give rise to new neurons and contribute to structural and functional brain plasticity.
Diana Zhilina +12 more
wiley +1 more source
Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.ABSTRACT Background Emery–Dreifuss muscular dystrophy (EDMD) is a progressive genetic myopathy that mainly affects the muscles used for movement (skeletal muscles) and the heart (cardiac muscles). The disease is frequently associated with mutations in genes encoding nuclear envelope proteins, most notably LMNA, which encodes lamin A—a critical ...
So‐mi Kang +11 more
wiley +1 more source
Informing Dose for Pediatric Rare Diseases—A Survey of Recent Orphan Drugs Approvals
Clinical and Translational Science, Volume 19, Issue 2, February 2026.ABSTRACT Collectively, pediatric rare diseases affect millions of children worldwide. Yet, treatment options are limited. Dose selection presents unique challenges in pediatric rare disease drug development. Traditional dose‐finding approaches are impractical for these populations, and conventional pediatric dosing methods like exposure matching face ...
Elimika Pfuma Fletcher +6 more
wiley +1 more source
New pathogenic mutation in LMNA gene: Clinical case of familial cardiomyopathy
Терапевтический архивWe present a clinical case of familial LMNA-associated cardiomyopathy, confirmed by whole genome sequencing. The typical for lamin-associated cardiomyopathy indicates pathogenic nature of the mutation in the first exon of LMNA gene, previously considered
Svetlana Y. Kashtanova +16 more
doaj +1 more source
The fat‐heart entanglement and the role of ‘osteopontin mechanics’ in cardiometabolic senescence
European Journal of Clinical Investigation, Volume 56, Issue 1, January 2026.Abstract Background Residual cardiovascular (CV) risk persists despite therapeutic advances. Obesity is heterogeneous, and visceral adipose tissue (VAT) dysfunction (‘adiposopathy’) complicates risk stratification. Osteopontin (OPN) is a pleiotropic mediator implicated in VAT inflammation, senescence‐associated pathways, atherosclerosis and myocardial ...
Cristina Michelauz +3 more
wiley +1 more source