Results 101 to 110 of about 22,553 (288)
Lamin A Δexon9 mutation leads to telomere and chromatin defects but not genomic instability [PDF]
, 2013 Over 300 mutations in the LMNA gene, encoding A-type lamins, are associated with 15 human degenerative disorders and premature aging syndromes. Although genomic instability seems to contribute to the pathophysiology of some laminopathies, there is ...
Das, Arindam +8 more
core +2 more sources
LMNA mutation in progeroid syndrome in association with strokes
European Journal of Medical Genetics, 2011 Hutchinson-Gilford progeria syndrome is a very rare but well-characterized genetic disorder that causes premature ageing. Clinical features affect growth, skeleton, body fat, skin, hair and the cardiovascular system. It is caused by mutations in LMNA gene, the most frequent being p.Gly608Gly (c.1824C > T) in exon 11.
M. Pineda +7 more
openaire +5 more sources
Advanced Science, EarlyView.The premature aging‐related progerin leads to defective nuclear morphology and is associated with disrupted molecular coupling between the extranuclear cytoskeleton and lamin‐associated nuclear envelope. It is discovered that progerin expression reduces nuclear tension, forms nuclear wrinkling, and enhances chromatin dynamics, thereby regulating ...
Ji‐Eun Park +9 more
wiley +1 more source
Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients
Stem Cell Research, 2022 LMNA-related dilated cardiomyopathy (LMNA-DCM) is caused by pathogenic variants in the LMNA gene and is characterized by left ventricular chamber enlargement, reduced systolic function, and arrhythmia.
Sangkyun Cho +7 more
doaj
Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. [PDF]
PLoS ONE, 2015 This study aimed to analyze the correlation between the phenotype and genotype of Chinese patients with early-onset lamin A (LMNA)-related muscular dystrophy (MD).
Dandan Tan +8 more
doaj +1 more source
Activation of PDGF Pathway Links LMNA Mutation to Dilated Cardiomyopathy
Nature, 2019 Lamin A/C (LMNA) is one of the most frequently mutated genes associated with dilated cardiomyopathy (DCM). DCM related to mutations in LMNA is a common inherited cardiomyopathy that is associated with systolic dysfunction and cardiac arrhythmias. Here we
Jaecheol Lee +23 more
semanticscholar +1 more source
Atypical progeroid syndrome (p.E262K LMNA mutation): a rare cause of short stature and osteoporosis
Endocrinology, Diabetes & Metabolism Case Reports, 2021 Summary Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson–Gilford progeria syndrome, mandibuloacral dysplasia, atypical progeroid syndrome (APS) and generalized lipodystrophy-associated progeroid ...
M. Yukina +6 more
semanticscholar +1 more source
Dynamic expression of lamin B1 during adult neurogenesis in the vertebrate brain
Developmental Dynamics, EarlyView.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
Multilevel analysis of nuclear dynamics in lamin perturbed fibroblasts [PDF]
, 2010 The nuclear lamina provides structural support to the nucleus and has a central role in defining nuclear organization. Defects in its filamentous constituents, the lamins, lead to a class of diseases collectively referred to as laminopathies.
Broers, Jos +7 more
core
Lamin A/C sustains PcG protein architecture, maintaining transcriptional repression at target genes [PDF]
, 2015 Beyond its role in providing structure to the nuclear envelope, lamin A/C is involved in transcriptional regulation. However, its cross talk with epigenetic factors--and how this cross talk influences physiological processes--is still unexplored.
Alessio Zippo +83 more
core +1 more source