(Q34145499)

English

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

31 July 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

familial partial lipodystrophy

1 reference

based on heuristic

inferred from title

Anne M. Bowcock

9

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

author name string

R A Speckman

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

A Garg

2

1 reference

Europe PubMed Central

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31 July 2017

F Du

3

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

L Bennett

4

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

R Veile

5

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

E Arioglu

6

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

S I Taylor

7

1 reference

Europe PubMed Central

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31 July 2017

M Lovett

8

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31 July 2017

language of work or name

0 references

publication date

1 April 2000

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Europe PubMed Central

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31 July 2017

American Journal of Human Genetics

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31 July 2017

66

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31 July 2017

4

1 reference

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31 July 2017

1192-1198

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Lipodystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

5 July 2018

A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

5 July 2018

Immunocytochemical detection of emerin within the nuclear matrix

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

5 July 2018

Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

5 July 2018

Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

5 July 2018

The alpha-helical rod domain of human lamins A and C contains a chromatin binding site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

5 July 2018

The processing pathway of prelamin A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

5 July 2018

5-Methylcytosine in eukaryotic DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

5 July 2018

Lamins A and C bind and assemble at the surface of mitotic chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

5 July 2018

The lamin B receptor of the nuclear envelope inner membrane: a polytopic protein with eight potential transmembrane domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

5 July 2018

Interaction of Xenopus lamins A and LII with chromatin in vitro mediated by a sequence element in the carboxyterminal domain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

28 October 2018

Nuclear lamina and the structural organization of the nuclear envelope.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288186

28 October 2018

A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16

1 reference

https://pubmed.ncbi.nlm.nih.gov/10739751

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rare Bases in Animal DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/10739751

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylation of DNA in developing sea urchin embryos

1 reference

https://pubmed.ncbi.nlm.nih.gov/10739751

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21–22

1 reference

https://pubmed.ncbi.nlm.nih.gov/10739751

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety)

1 reference

https://pubmed.ncbi.nlm.nih.gov/10739751

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22

1 reference

https://pubmed.ncbi.nlm.nih.gov/10739751

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distribution of 5-methylcytosine in pyrimidine sequences of deoxyribonucleic acids

1 reference

https://pubmed.ncbi.nlm.nih.gov/10739751

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

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