(Q54064168)

24 May 2018

title

Pushing the envelope on lipodystrophy. (English)

1 reference

24 May 2018

1

Flier JS

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24 May 2018

language of work or name

English

0 references

publication date

1 February 2000

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24 May 2018

published in

Nature Genetics

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24 May 2018

volume

24

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24 May 2018

issue

2

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24 May 2018

page(s)

103-104

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24 May 2018

https://scigraph.springernature.com/pub.10.1038/72734

exact match

0 references

cites work

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

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Nuclear lamins: their structure, assembly, and interactions

21 January 2018

1 reference

A- and B-type lamins are differentially expressed in normal human tissues

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/72734

1 reference

24 May 2018

PubMed ID

10655047

1 reference

24 May 2018