(Q34043263)

30 July 2017

title

Low and high expressing alleles of the LMNA gene: implications for laminopathy disease development (English)

1 reference

30 July 2017

Sofía Rodríguez

1

1 reference

30 July 2017

Maria Eriksson

series ordinal

2

1 reference

30 July 2017

language of work or name

English

0 references

publication date

29 September 2011

1 reference

30 July 2017

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30 July 2017

volume

6

1 reference

30 July 2017

issue

9

1 reference

30 July 2017

page(s)

e25472

1 reference

Creative Commons Attribution 4.0 International

30 July 2017

copyright license

start time

29 September 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183053

Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183053

"Laminopathies": a wide spectrum of human diseases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183053

Lamin A-dependent nuclear defects in human aging

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183053

Allelic variation in gene expression is common in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183053

Primer3 on the WWW for general users and for biologist programmers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183053

Change of karyoskeleton during mammalian spermatogenesis: expression pattern of nuclear lamin C2 and its regulation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183053

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183053

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183053

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183053

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183053

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

5 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0025472

Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0025472

Eliminating the synthesis of mature lamin A reduces disease phenotypes in mice carrying a Hutchinson-Gilford progeria syndrome allele.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0025472

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0025472

Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0025472

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21980471

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21980471

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0025472

1 reference

30 July 2017

0 references

1 reference

30 July 2017

1 reference