Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
about
The nuclear envelopathies and human diseasesCardiomyopathy classification: ongoing debate in the genomics eraGenetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathyThe inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleusTNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathyNesprin-1alpha self-associates and binds directly to emerin and lamin A in vitroSumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathiesA new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16Many roads lead to a broken heart: the genetics of dilated cardiomyopathy.Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathyMandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/CA novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndromeHomozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouseAltered protein dynamics of disease-associated lamin A mutantsExpression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutationSkeletal Muscle Laminopathies: A Review of Clinical and Molecular FeaturesGenetics of Human and Canine Dilated CardiomyopathyCharcot-Marie-Tooth disease and intracellular trafficWhen lamins go bad: nuclear structure and diseaseThe nuclear lamina is mechano-responsive to ECM elasticity in mature tissueThe nuclear envelope: an intriguing focal point for neurogenetic diseaseClinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathyLinker of nucleoskeleton and cytoskeleton (LINC) complex-mediated actin-dependent nuclear positioning orients centrosomes in migrating myoblasts.Cardiomyocyte-specific expression of lamin a improves cardiac function in Lmna-/- miceCytoskeletal tension induces the polarized architecture of the nucleus.Structure of the globular tail of nuclear laminGenetics and disease of ventricular muscle.Genetic Variations Leading to Familial Dilated CardiomyopathyInherited bradyarrhythmia: A diverse genetic backgroundClinical and Mechanistic Insights Into the Genetics of CardiomyopathyRecent advances in animal and human pluripotent stem cell modeling of cardiac laminopathyThe cardiac conduction systemMutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathyThe nuclear envelope in muscular dystrophy and cardiovascular diseasesLife at the edge: the nuclear envelope and human diseaseInherited conduction system abnormalities--one group of diseases, many genesCoding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathyKv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillationLaminopathies and the long strange trip from basic cell biology to therapy
P2860
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P2860
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Missense mutations in the rod ...... and conduction-system disease
@ast
Missense mutations in the rod ...... and conduction-system disease
@en
Missense mutations in the rod ...... and conduction-system disease
@nl
type
label
Missense mutations in the rod ...... and conduction-system disease
@ast
Missense mutations in the rod ...... and conduction-system disease
@en
Missense mutations in the rod ...... and conduction-system disease
@nl
prefLabel
Missense mutations in the rod ...... and conduction-system disease
@ast
Missense mutations in the rod ...... and conduction-system disease
@en
Missense mutations in the rod ...... and conduction-system disease
@nl
P2093
P3181
P1476
Missense mutations in the rod ...... and conduction-system disease
@en
P2093
B McDonough
H J Vidaillet
J Atherton
J G Seidman
M Frenneaux
P304
P3181
P356
10.1056/NEJM199912023412302
P407
P577
1999-12-02T00:00:00Z