Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy - Wikidata - awgldk - TriplyDB

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

http://www.wikidata.org/entity/Q24681029

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Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress The nuclear envelopathies and human diseases Inhibition of Protein Farnesylation Arrests Adipogenesis and Affects PPARgamma Expression and Activation in Differentiating Mesenchymal Stem Cells Lamin A/C haploinsufficiency modulates the differentiation potential of mouse embryonic stem cells Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction The inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleus Coupling of the nucleus and cytoplasm: role of the LINC complex Nesprin-1alpha self-associates and binds directly to emerin and lamin A in vitro Structural requirements for the assembly of LINC complexes and their function in cellular mechanical stiffness Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes Myotonic dystrophy protein kinase is critical for nuclear envelope integrity A-type lamins maintain the positional stability of DNA damage repair foci in mammalian nuclei Vertebrate Nup53 interacts with the nuclear lamina and is required for the assembly of a Nup93-containing complex Lamin A/C-dependent localization of Nesprin-2, a giant scaffolder at the nuclear envelope Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome Many 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.Progeria: a rare genetic premature ageing disorder Lamin B1 is required for mouse development and nuclear integrity Epigenetic alterations in aging Blocking protein farnesylation improves nuclear shape abnormalities in keratinocytes of mice expressing the prelamin A variant in Hutchinson-Gilford progeria syndrome Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy A carboxyl-terminal interaction of lamin B1 is dependent on the CAAX endoprotease Rce1 and carboxymethylation The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein Two faces of p53: aging and tumor suppression Recruitment of protein phosphatase 1 to the nuclear envelope by A-kinase anchoring protein AKAP149 is a prerequisite for nuclear lamina assembly Altered protein dynamics of disease-associated lamin A mutants Lamin A/C truncation in dilated cardiomyopathy with conduction disease Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation Chromatin states and nuclear organization in development--a view from the nuclear lamina Breaching the nuclear envelope in development and disease The nuclear envelope LEM-domain protein emerin When lamins go bad: nuclear structure and disease Mouse models of laminopathies The nuclear lamina is mechano-responsive to ECM elasticity in mature tissue Nuclear lamins and oxidative stress in cell proliferation and longevity Linker of nucleoskeleton and cytoskeleton (LINC) complex-mediated actin-dependent nuclear positioning orients centrosomes in migrating myoblasts.Generation of micronuclei during interphase by coupling between cytoplasmic membrane blebbing and nuclear budding LINC complexes mediate the positioning of cone photoreceptor nuclei in mouse retina

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P2860

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

http://www.wikidata.org/entity/Q24681029

description

1999 nî lūn-bûn

@nan

1999 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

1999 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

1999年の論文

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1999年論文

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1999年論文

@zh-hant

1999年論文

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1999年論文

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1999年論文

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1999年论文

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name

Loss of A-type lamin expressio ...... leading to muscular dystrophy

@ast

Loss of A-type lamin expressio ...... leading to muscular dystrophy

@en

Loss of A-type lamin expressio ...... leading to muscular dystrophy

@nl

type

label

Loss of A-type lamin expressio ...... leading to muscular dystrophy

@ast

Loss of A-type lamin expressio ...... leading to muscular dystrophy

@en

Loss of A-type lamin expressio ...... leading to muscular dystrophy

@nl

prefLabel

Loss of A-type lamin expressio ...... leading to muscular dystrophy

@ast

Loss of A-type lamin expressio ...... leading to muscular dystrophy

@en

Loss of A-type lamin expressio ...... leading to muscular dystrophy

@nl

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Journal of Cell Biology

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Loss of A-type lamin expressio ...... leading to muscular dystrophy

@en

P2093

B Burke

http://www.w3.org/2001/XMLSchema#string

C L Stewart

http://www.w3.org/2001/XMLSchema#string

D Escalante-Alcalde

http://www.w3.org/2001/XMLSchema#string

H Bhatt

http://www.w3.org/2001/XMLSchema#string

K Nagashima

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M Anver

http://www.w3.org/2001/XMLSchema#string

N Bhat

http://www.w3.org/2001/XMLSchema#string

T Sullivan

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P2860

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy

Integral membrane proteins of the nuclear envelope are dispersed throughout the endoplasmic reticulum during mitosis

Nuclear assembly

Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation

The major nuclear envelope targeting domain of LAP2 coincides with its lamin binding region but is distinct from its chromatin interaction domain

Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype

The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein

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913-20

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scholarly article

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2738195

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10.1083/JCB.147.5.913

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P433

5

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147

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1999-11-29T00:00:00Z

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274485331

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10579712

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2169344

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