Results 81 to 90 of about 1,703 (200)

Laminopathies [PDF]

open access: yesNucleus, 2018
Lattanzi G, Maggi L, AraujoVilar D
openaire   +3 more sources

Electro‐Mechanical Dissociation in Chagas Cardiomyopathy: Comparative Analysis of Arrhythmic Burden Beyond LVEF

open access: yesJournal of Arrhythmia, Volume 42, Issue 3, June 2026.
Despite matched clinical characteristics and LVEF, patients with Chagas cardiomyopathy exhibit a significantly higher arrhythmic burden compared to ischemic cardiomyopathy. This electro‐mechanical dissociation highlights the necessity of sudden death risk stratification strategies that extend beyond traditional ejection fraction thresholds.
Luis E. Echeverría   +7 more
wiley   +1 more source

The involvement of thioredoxin-1 in neuronal laminopathy in neurodegeneration

open access: yes, 2023
Introduction: Progressive loss of neurons is a common cause in pathophysiology of neurodegenerative diseases (ND), although the underlying mechanisms responsible for cell death remains controversial.
Sultana, Shakila
core  

LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

open access: yesАрхивъ внутренней медицины
Emery-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

Dynamic expression of lamin B1 during adult neurogenesis in the vertebrate brain

open access: yesDevelopmental 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

Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy [PDF]

open access: yes, 2015
Mutations in the lamin A/C gene (LMNA) were associated with dilated cardiomyopathy (DCM) and, recently, were related to severe forms of arrhythmogenic right ventricular cardiomyopathy (ARVC).
Rampazzo A   +48 more
core   +3 more sources

Disruption of Nuclear‐Cytoskeletal Linkage by Coil‐1a LMNA Mutations in Emery–Dreifuss Muscular Dystrophy

open access: yesJournal 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

Disorganized chromatin hierarchy and stem cell aging in a male patient of atypical laminopathy-based progeria mandibuloacral dysplasia type A [PDF]

open access: yes
Studies of laminopathy-based progeria offer insights into aging-associated diseases and highlight the role of LMNA in chromatin organization. Mandibuloacral dysplasia type A (MAD) is a largely unexplored form of atypical progeria that lacks lamin A post ...
Shaoshuai Jiang   +25 more
core   +1 more source

New pathogenic mutation in LMNA gene: Clinical case of familial cardiomyopathy

open access: yesТерапевтический архив
We 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

Informing Dose for Pediatric Rare Diseases—A Survey of Recent Orphan Drugs Approvals

open access: yesClinical 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

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