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TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy
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scholarly article
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title
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy
(English)
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author name string
Wen-Chen Liang
series ordinal
1
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Hiroaki Mitsuhashi
series ordinal
2
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Etsuko Keduka
series ordinal
3
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Ikuya Nonaka
series ordinal
4
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Satoru Noguchi
series ordinal
5
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Ichizo Nishino
series ordinal
6
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Yukiko K Hayashi
series ordinal
7
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language of work or name
English
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publication date
June 2011
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published in
Annals of Neurology
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volume
69
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page(s)
1005-13
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issue
6
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cites work
Limb-Girdle Muscular Dystrophy Due to Emerin Gene Mutations
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stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Natively unfolded proteins
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structural requirements for the assembly of LINC complexes and their function in cellular mechanical stiffness
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The nuclear envelope, lamins and nuclear assembly.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Emery-Dreifuss muscular dystrophy - a 40 year retrospective
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An emerin "proteome": purification of distinct emerin-containing complexes from HeLa cells suggests molecular basis for diverse roles including gene regulation, mRNA splicing, signaling, mechanosensing, and nuclear architecture.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human laminopathies: nuclei gone genetically awry
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stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Inner nuclear membrane protein transport is mediated by multiple mechanisms.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
SUN1 and SUN2 play critical but partially redundant roles in anchoring nuclei in skeletal muscle cells in mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membrane
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Coupling of the nucleus and cytoplasm: role of the LINC complex
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Bringing KASH under the SUN: the many faces of nucleo-cytoskeletal connections
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Syne-1 and Syne-2 play crucial roles in myonuclear anchorage and motor neuron innervation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
LUMA interacts with emerin and influences its distribution at the inner nuclear membrane
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mechanical properties of the cell nucleus and the effect of emerin deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nuclear lamin A/C deficiency induces defects in cell mechanics, polarization, and migration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FANA.22338
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/ANA.22338
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2902868
Fatcat ID
release_pz2mjzjfgrgzhoj4vg7fhnr6y4
0 references
OpenCitations bibliographic resource ID
2902868
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2902868
PubMed ID
21391237
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2902868
ResearchGate publication ID
50353202
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