Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
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The nuclear envelopathies and human diseasesLamin A/C haploinsufficiency modulates the differentiation potential of mouse embryonic stem cellsA visual screen of a GFP-fusion library identifies a new type of nuclear envelope membrane proteinMAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerinSyne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junctionA novel role for the nuclear membrane protein emerin in association of the centrosome to the outer nuclear membraneThe inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleusNesprin-1alpha self-associates and binds directly to emerin and lamin A in vitroOverlapping functions of nuclear envelope proteins NET25 (Lem2) and emerin in regulation of extracellular signal-regulated kinase signaling in myoblast differentiationLINC complex alterations in DMD and EDMD/CMT fibroblastsMany 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.Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)The inner nuclear membrane: simple, or very complex?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 mouseCandidate-gene testing for orphan limb-girdle muscular dystrophiesLoss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophyRecruitment of protein phosphatase 1 to the nuclear envelope by A-kinase anchoring protein AKAP149 is a prerequisite for nuclear lamina assemblyLamin A/C truncation in dilated cardiomyopathy with conduction diseaseExpression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutationSkeletal Muscle Laminopathies: A Review of Clinical and Molecular FeaturesA muscle stem cell for every muscle: variability of satellite cell biology among different muscle groupsCharcot-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 diseaseLinker of nucleoskeleton and cytoskeleton (LINC) complex-mediated actin-dependent nuclear positioning orients centrosomes in migrating myoblasts.Cytoskeletal tension induces the polarized architecture of the nucleus.Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophyStructure of the globular tail of nuclear laminLamina-associated polypeptide 1: protein interactions and tissue-selective functionsGenetic Variations Leading to Familial Dilated CardiomyopathyThe cardiac conduction systemThe nuclear envelope in muscular dystrophy and cardiovascular diseasesEmerin interacts in vitro with the splicing-associated factor, YT521-BLife at the edge: the nuclear envelope and human diseaseInherited conduction system abnormalities--one group of diseases, many genes
P2860
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P2860
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
description
1999 nî lūn-bûn
@nan
1999 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մարտին 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
Mutations in the gene encoding ...... ry-Dreifuss muscular dystrophy
@ast
Mutations in the gene encoding ...... ry-Dreifuss muscular dystrophy
@en
Mutations in the gene encoding ...... ry-Dreifuss muscular dystrophy
@en-gb
Mutations in the gene encoding ...... ry-Dreifuss muscular dystrophy
@nl
type
label
Mutations in the gene encoding ...... ry-Dreifuss muscular dystrophy
@ast
Mutations in the gene encoding ...... ry-Dreifuss muscular dystrophy
@en
Mutations in the gene encoding ...... ry-Dreifuss muscular dystrophy
@en-gb
Mutations in the gene encoding ...... ry-Dreifuss muscular dystrophy
@nl
prefLabel
Mutations in the gene encoding ...... ry-Dreifuss muscular dystrophy
@ast
Mutations in the gene encoding ...... ry-Dreifuss muscular dystrophy
@en
Mutations in the gene encoding ...... ry-Dreifuss muscular dystrophy
@en-gb
Mutations in the gene encoding ...... ry-Dreifuss muscular dystrophy
@nl
P2093
P50
P3181
P356
P1433
P1476
Mutations in the gene encoding ...... ry-Dreifuss muscular dystrophy
@en
P2093
Cheryl R. Greenberg
Denis Duboc
El-Hadi Hammouda
Françoise Gary
Henri-Marc Bécane
Jon-Andoni Urtizberea
Ketty Schwartz
Marina Raffaele Di Barletta
Michel Fardeau
Shaida Varnous
P2888
P304
P3181
P356
10.1038/6799
P407
P577
1999-03-01T00:00:00Z
P6179
1044052836