(Q35632216)

9 August 2017

1 reference

title

How do mutations in lamins A and C cause disease? (English)

1 reference

9 August 2017

Howard J Worman

1

1 reference

9 August 2017

Jean-Claude Courvalin

series ordinal

2

1 reference

9 August 2017

language of work or name

English

0 references

publication date

1 February 2004

1 reference

Journal of Clinical Investigation

9 August 2017

published in

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9 August 2017

volume

113

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9 August 2017

issue

3

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9 August 2017

page(s)

349-351

1 reference

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

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324546

Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324546

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324546

Lamin a truncation in Hutchinson-Gilford progeria.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324546

The nuclear lamina and inherited disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324546

Chromosome territories, nuclear architecture and gene regulation in mammalian cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324546

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324546

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324546

Dynamic repositioning of genes in the nucleus of lymphocytes preparing for cell division

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324546

Positional cloning of the Werner's syndrome gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324546

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324546

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324546

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324546

Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324546

Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=324546

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

25 September 2018

1 reference

12 December 2020

Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

The nuclear lamina is a meshwork of intermediate-type filaments

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI20832

1 reference

release_elvjn56kvnc2ne2pmxxdynnply

9 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/elvjn56kvnc2ne2pmxxdynnply

24 November 2022

mapped directly with Wikidata item

PMC publication ID

324546

1 reference

9 August 2017

1 reference