LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. (Q54064162)

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3 November 2019

title

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy (English)

1 reference

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3 November 2019

13

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3 November 2019

David J Lloyd

2

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3 November 2019

Sudhesh Kumar

9

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3 November 2019

Stephen O'Rahilly

12

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3 November 2019

author name string

Shackleton S

1

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3 November 2019

Jackson SN

3

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3 November 2019

Evans R

4

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3 November 2019

Niermeijer MF

5

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3 November 2019

Singh BM

6

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3 November 2019

Schmidt H

7

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Brabant G

8

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3 November 2019

Durrington PN

10

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3 November 2019

Gregory S

11

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language of work or name

English

0 references

publication date

1 February 2000

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3 November 2019

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3 November 2019

volume

24

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3 November 2019

issue

2

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3 November 2019

page(s)

153-156

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Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy

3 November 2019

cites work

1 reference

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Banting lecture 1988. Role of insulin resistance in human disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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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

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2F72807

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

21 January 2018

1 reference

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Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

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Nuclear lamins: their structure, assembly, and interactions

21 January 2018

1 reference

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

21 January 2018

1 reference

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Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4

21 January 2018

1 reference

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Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector

21 January 2018

1 reference

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Genome mapping by fluorescent fingerprinting

21 January 2018

1 reference

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Human epidermal differentiation complex in a single 2.5 Mbp long continuum of overlapping DNA cloned in bacteria integrating physical and transcript maps

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2F72807

7 January 2021

Banting lecture 1988. Role of insulin resistance in human disease

1 reference

https://api.crossref.org/works/10.1038%2F72807

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2F72807

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2F72807

7 January 2021

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

1 reference

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7 January 2021

Identifiers

DOI

10.1038/72807

1 reference

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3 November 2019

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