Increasing Role of Titin Mutations in Neuromuscular Disorders [PDF]
, 2016 Peer ...
Hackman, Peter +4 more
core +2 more sources
Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations [PDF]
, 2005 Gene-poor human chromosomes are reproducibly found at the nuclear periphery in proliferating cells. There are a number of inner nuclear envelope proteins that may have roles in chromosome location and anchorage, e.g. emerin and A-type lamins.
Bridger, JM +3 more
core +1 more source
bioRxiv, 2022 Emery-Dreifuss muscular dystrophy (EDMD) is a genetically and clinically variable disorder. Previous attempts to use gene expression changes find its pathomechanism were unavailing, so we here engaged a functional pathway analysis.
J. I. de las Heras +8 more
semanticscholar +1 more source
Distrofia muscular de Emery-Dreifuss: relato de caso Emery-Dreifuss muscular dystrophy: case report
Arquivos de Neuro-Psiquiatria, 2006 A distrofia muscular de Emery-Dreifuss é uma forma de distrofia muscular freqüentemente associada a contraturas articulares e defeitos de condução cardíaca, que pode ser causada pela deficiência da proteína emerina na membrana nuclear interna das fibras ...
Ana Lucila Moreira Carsten +3 more
doaj +1 more source
PCAF Involvement in Lamin A/C-HDAC2 Interplay during the Early Phase of Muscle Differentiation
Cells, 2020 Lamin A/C has been implicated in the epigenetic regulation of muscle gene expression through dynamic interaction with chromatin domains and epigenetic enzymes. We previously showed that lamin A/C interacts with histone deacetylase 2 (HDAC2).
Spartaco Santi +4 more
doaj +1 more source
The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands [PDF]
, 1996 A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and heterogeneous entity of limb girdle muscular dystrophy (LGMD).
Bakker, E. (Egbert) +18 more
core +1 more source
Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy
Human Mutation, 2022 Emery‐Dreifuss muscular dystrophy (EDMD) is a hereditary muscle disease, characterized by the clinical triade of early‐onset joint contractures, progressive muscle weakness, and cardiac involvement.
J. Borch +8 more
semanticscholar +1 more source
Frontiers in Genetics, 2023 Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenotypes
Sergi Cesar +68 more
doaj +1 more source
Familial Dilated Cardiomyopathy and Isolated Left Ventricular Noncompaction Associated With Lamin A/C Gene Mutations [PDF]
, 2004 [Abstract] LMNA mutations have been associated with familial or sporadic dilated cardiomyopathy (DC), with or without conduction system disease. We studied the LMNA gene in 67 consecutive patients with DC (18 had familial DC, 17 had possible familial DC,
Bouzas-Zubeldia, Beatriz +10 more
core +2 more sources
A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like
BMC Medical Genetics, 2017 Background In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery–Dreifuss muscular dystrophy-like, which clinically manifests as muscle ...
Zuzhi Chen +8 more
doaj +1 more source