about
MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerinDifferent mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutationStructural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophyTranscriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitroMuscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organizationNesprin 1 is critical for nuclear positioning and anchorageEmery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.Making sense of the limb-girdle muscular dystrophies.Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophyEmerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles.Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.Emerin in health and disease.A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 familiesMultiple pathogenetic mechanisms in X linked dilated cardiomyopathy.The muscular dystrophies: from genes to therapies.Novel pathogenic variants and genes for myopathies identified by whole exome sequencingOccurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature.Respiratory involvement in inherited primary muscle conditions.Genetics of dilated cardiomyopathy.The LINC complex and human disease.Gathering up meiotic telomeres: a novel function of the microtubule-organizing center.Invited review: Stem cells and muscle diseases: advances in cell therapy strategies.Anti-cardiac troponin antibodies in clinical human disease: a systematic review.Diseases of the Nucleoskeleton.Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy.Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.A novel de novo mutation in Lamin A/C gene in Emery Dreifuss Muscular Dystrophy patient with atrial paralysis.Recurrent pneumothoraces associated with nocturnal noninvasive ventilation in a patient with muscular dystrophy.MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.The Pathogenesis and Therapies of Striated Muscle Laminopathies
P2860
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P2860
description
1989 nî lūn-bûn
@nan
1989 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
Emery-Dreifuss syndrome
@ast
Emery-Dreifuss syndrome
@en
Emery-Dreifuss syndrome
@en-gb
Emery-Dreifuss syndrome
@nl
type
label
Emery-Dreifuss syndrome
@ast
Emery-Dreifuss syndrome
@en
Emery-Dreifuss syndrome
@en-gb
Emery-Dreifuss syndrome
@nl
prefLabel
Emery-Dreifuss syndrome
@ast
Emery-Dreifuss syndrome
@en
Emery-Dreifuss syndrome
@en-gb
Emery-Dreifuss syndrome
@nl
P2860
P356
P1476
Emery-Dreifuss syndrome
@en
P2093
P2860
P304
P356
10.1136/JMG.26.10.637
P407
P577
1989-10-01T00:00:00Z