Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy (Q28277676)

15

Raoul Hennekam

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Martine Le Merrer

18

Martine Le Merrer

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Claire L Navarro

Claire L Navarro

Annachiara De Sandre-Giovannoli

1

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Annachiara De Sandre-Giovannoli

2

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Pierre Vabres

Pierre Vabres

10

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Smail Hadj-rabia

Smail Hadj-Rabia

7

0 references

Alain Verloes

12

Alain Verloes

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author name string

Rafaëlle Bernard

3

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Irène Boccaccio

4

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Amandine Boyer

5

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David Geneviève

6

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Caroline Gaudy-Marqueste

8

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Henk Sillevis Smitt

9

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Laurence Faivre

11

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Ton Van Essen

13

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Elisabeth Flori

14

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Frits A Beemer

16

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Nicole Laurent

17

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Nicolas Lévy

Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia

20

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language of work or name

English

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publication date

15 October 2004

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published in

Human Molecular Genetics

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volume

13

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issue

20

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page(s)

2493-503

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Restrictive dermopathy: report and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Dermatopathological aspects of restrictive dermopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Lamin a truncation in Hutchinson-Gilford progeria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

The laminopathies: nuclear structure meets disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Review: the dynamics of the nuclear lamins during the cell cycle-- relationship between structure and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

The nucleoskeleton: lamins and actin are major players in essential nuclear functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Protein prenylation: a pivotal posttranslational process

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

The strange case of the "lumper" lamin A/C gene and human premature ageing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Aging and nuclear organization: lamins and progeria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

How do mutations in lamins A and C cause disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

The carboxyl-terminal region common to lamins A and C contains a DNA binding domain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Interaction between emerin and nuclear lamins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Prenylated prelamin A interacts with Narf, a novel nuclear protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Molecular characterization of protein kinase C-alpha binding to lamin A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Mice with targeted disruption of the fatty acid transport protein 4 (Fatp 4, Slc27a4) gene show features of lethal restrictive dermopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265

The nuclear lamina is a meshwork of intermediate-type filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH265