(Q57562621)

English

The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin

scientific article published on 01 March 2001

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11313760%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11313760%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

based on heuristic

inferred from title

4

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6 November 2019

author name string

Holt I

1

1 reference

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6 November 2019

Clements L

2

1 reference

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6 November 2019

Manilal S

3

1 reference

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6 November 2019

Morris GE

5

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6 November 2019

publication date

1 March 2001

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6 November 2019

European Journal of Human Genetics

1 reference

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6 November 2019

9

1 reference

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6 November 2019

204-208

1 reference

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6 November 2019

3

1 reference

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6 November 2019

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200609

0 references

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

Nuclear lamins: their structure, assembly, and interactions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

Spatial distribution of lamin A and B1 in the K562 cell nuclear matrix stabilized with metal ions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

Colocalization of emerin and lamins in interphase nuclei and changes during mitosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

Review: lamina-associated polypeptide 2 isoforms and related proteins in cell cycle-dependent nuclear structure dynamics

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

Direct interaction between emerin and lamin A

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

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

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

Expression of the N-terminal domain of dystrophin in E. coli and demonstration of binding to F-actin.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

An established pre-adipose cell line and its differentiation in culture.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

High fatty acid content in rabbit serum is responsible for the differentiation of osteoblasts into adipocyte-like cells

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of the lamina-associated-polypeptide-2-binding domain of B-type lamin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200609

7 January 2021

based on heuristic

inferred from DOI database lookup

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