Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
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The nuclear envelopathies and human diseasesA 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 emerinA 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 vitroEmerin-prelamin A interplay in human fibroblastsOverlapping functions of nuclear envelope proteins NET25 (Lem2) and emerin in regulation of extracellular signal-regulated kinase signaling in myoblast differentiationA human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterilityX-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functionsAn X chromosome-linked gene encoding a protein with characteristics of a rhoGAP predominantly expressed in hematopoietic cellsLINC complex alterations in DMD and EDMD/CMT fibroblastsMammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processesDetergent-salt resistance of LAP2alpha in interphase nuclei and phosphorylation-dependent association with chromosomes early in nuclear assembly implies functions in nuclear structure dynamics.Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody.The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophyLamin A/C truncation in dilated cardiomyopathy with conduction diseaseExpression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutationEmery-Dreifuss muscular dystrophy: a test case for precision medicine.A muscle stem cell for every muscle: variability of satellite cell biology among different muscle groupsThe nuclear envelope LEM-domain protein emerinWhen lamins go bad: nuclear structure and diseaseThe role of RecQ helicases in non-homologous end-joiningThe 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.Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophySolution structure of the constant region of nuclear envelope protein LAP2 reveals two LEM-domain structures: one binds BAF and the other binds DNAStructure of the globular tail of nuclear laminSolution NMR structure of the barrier-to-autointegration factor-Emerin complexLamina-associated polypeptide 1: protein interactions and tissue-selective functionsRole for perinuclear chromosome tethering in maintenance of genome stability.Heading in the Right Direction: Understanding Cellular Orientation Responses to Complex Biophysical EnvironmentsOn the role of thymopoietins in cell proliferation. Immunochemical evidence for new members of the human thymopoietin familyLife at the edge: the nuclear envelope and human diseaseTranscriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitroThe molecular basis of emerin-emerin and emerin-BAF interactionsLaminopathies and the long strange trip from basic cell biology to therapySun2 is a novel mammalian inner nuclear membrane protein
P2860
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P2860
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
description
1994 nî lūn-bûn
@nan
1994 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
@ast
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
@en
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
@en-gb
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
@nl
type
label
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
@ast
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
@en
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
@en-gb
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
@nl
prefLabel
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
@ast
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
@en
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
@en-gb
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
@nl
P2093
P3181
P356
P1433
P1476
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
@en
P2093
P2888
P3181
P356
10.1038/NG1294-323
P407
P577
1994-12-01T00:00:00Z
P5875
P6179
1026891921