Emery-Dreifuss muscular dystrophy (Q79543221)

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24 December 2019

review article

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title

Emery-Dreifuss muscular dystrophy (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17217858 AND SRC:MED&resulttype=core&format=json

24 December 2019

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1

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24 December 2019

author name string

Howard J Worman

series ordinal

2

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24 December 2019

publication date

1 January 2007

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Current Neurology and Neuroscience Reports

24 December 2019

published in

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24 December 2019

volume

7

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24 December 2019

issue

1

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24 December 2019

page(s)

78-83

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Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy

24 December 2019

cites work

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12 December 2020

Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

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12 December 2020

X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type).

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12 December 2020

Unusual type of benign x-linked muscular dystrophy

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12 December 2020

Direct interaction between emerin and lamin A

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12 December 2020

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

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12 December 2020

Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy

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12 December 2020

Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies.

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12 December 2020

Survival in x-chromosomal muscular dystrophy

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12 December 2020

Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization

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12 December 2020

The nuclear lamina is a meshwork of intermediate-type filaments

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12 December 2020

Here come the SUNs: a nucleocytoskeletal missing link

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12 December 2020

Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation

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12 December 2020

The Emery-Dreifuss Muscular Dystrophy Mutation Database

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12 December 2020

High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation

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12 December 2020

Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction.

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12 December 2020

Identification and cloning of an mRNA coding for a germ cell-specific A-type lamin in mice

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12 December 2020

Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration.

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12 December 2020

Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells

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12 December 2020

Keratin-like proteins that coisolate with intermediate filaments of BHK-21 cells are nuclear lamins

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12 December 2020

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

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12 December 2020

An alternative splicing product of the lamin A/C gene lacks exon 10.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Prelamin A, Zmpste24, misshapen cell nuclei, and progeria--new evidence suggesting that protein farnesylation could be important for disease pathogenesis

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12 December 2020

cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins

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12 December 2020

Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

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12 December 2020

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations

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12 December 2020

Barrier-to-autointegration factor: major roles in chromatin decondensation and nuclear assembly

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12 December 2020

Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles

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12 December 2020

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

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12 December 2020

The inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleus

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

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12 December 2020

Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C

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12 December 2020

Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy

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12 December 2020

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

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12 December 2020

Progression of cardiac disease in Emery-Dreifuss muscular dystrophy

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12 December 2020

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

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12 December 2020

Interaction between emerin and nuclear lamins

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12 December 2020

The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane.

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12 December 2020

Emery-dreifuss muscular dystrophy

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12 December 2020

The nuclear envelope and human disease

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12 December 2020

Recent advances in the study of prenylated proteins

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12 December 2020

Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.

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12 December 2020

Cardiac Features of an Unusual X-Linked Humeroperoneal Neuromuscular Disease

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12 December 2020

Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts

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12 December 2020

Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene

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12 December 2020