(Q35026537)

English

Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes

scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

1 reference

based on heuristic

inferred from title

partial lipodystrophy

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Hegele RA

1

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Anderson CM

2

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Wang J

3

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Jones DC

4

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Cao H

5

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

publication date

1 May 2000

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Genome Research

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

10

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

652-658

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

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=310873

8 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=310873

8 July 2018

Heart to heart: from nuclear proteins to 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=310873

8 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=310873

8 July 2018

Nuclear lamins: their structure, assembly, and interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310873

8 July 2018

Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310873

8 July 2018

Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310873

8 July 2018

https://pubmed.ncbi.nlm.nih.gov/10810087

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310873

8 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=310873

25 October 2018

Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310873

25 October 2018

Abdominal obesity and its metabolic complications: implications for the risk of ischaemic heart disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310873

25 October 2018

The envelope, please: nuclear lamins and disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/10810087

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/10810087

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elevated LDL triglyceride concentrations in subjects heterozygous for the hepatic lipase S267F variant

1 reference

https://pubmed.ncbi.nlm.nih.gov/10810087

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variation in the AU(AT)-rich element within the 3'-untranslated region of PPP1R3 is associated with variation in plasma glucose in aboriginal Canadians

1 reference

https://pubmed.ncbi.nlm.nih.gov/10810087

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/10810087

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1101/GR.10.5.652

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

ResearchGate publication ID

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