The nuclear envelope and human disease (Q35894422)

11 August 2017

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title

The nuclear envelope and human disease (English)

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11 August 2017

Antoine Muchir

1

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11 August 2017

Howard J Worman

series ordinal

2

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11 August 2017

publication date

1 October 2004

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11 August 2017

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11 August 2017

volume

19

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11 August 2017

page(s)

309-314

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Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

11 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

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/10.1152/PHYSIOL.00022.2004

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

LMNA mutations in atypical Werner's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

Direct interaction between emerin and lamin A

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

Lamin a truncation in Hutchinson-Gilford progeria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

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/10.1152/PHYSIOL.00022.2004

Structure of the globular tail of nuclear lamin

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

Emery-Dreifuss muscular dystrophy - a 40 year retrospective

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

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

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

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/10.1152/PHYSIOL.00022.2004

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly)

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

The human lamin B receptor/sterol reductase multigene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

Biochemical studies of Zmpste24-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

Essential roles for Caenorhabditis elegans lamin gene in nuclear organization, cell cycle progression, and spatial organization of nuclear pore complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

Disruption of nuclear lamin organization blocks the elongation phase of DNA replication

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

A progeroid syndrome in mice is caused by defects in A-type lamins

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

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/10.1152/PHYSIOL.00022.2004

Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

Interaction between emerin and nuclear lamins

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

Nuclear membrane proteins with potential disease links found by subtractive proteomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

Barrier-to-autointegration factor: major roles in chromatin decondensation and nuclear assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

Recent advances in the study of prenylated proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

Alteration of nuclear lamin organization inhibits RNA polymerase II-dependent transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

Disruption of nuclear lamin organization alters the distribution of replication factors and inhibits DNA synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

A lamin B receptor in the nuclear envelope

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

Interaction between an integral protein of the nuclear envelope inner membrane and human chromodomain proteins homologous to Drosophila HP1

21 January 2018

1 reference

https://api.crossref.org/works/10.1152/PHYSIOL.00022.2004

10.1152/PHYSIOL.00022.2004

21 January 2018

Identifiers

DOI

1 reference

11 August 2017

1 reference