The nuclear lamina and inherited disease (Q35032070)

5 August 2017

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title

The nuclear lamina and inherited disease (English)

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5 August 2017

Howard J Worman

1

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PubMed ID

12495848

5 August 2017

Jean-Claude Courvalin

series ordinal

2

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5 August 2017

1 December 2002

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5 August 2017

Trends in Cell Biology

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5 August 2017

12

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5 August 2017

591-598

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5 August 2017

12

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Nuclear lamins: their structure, assembly, and interactions

5 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Maturation of nuclear lamin A involves a specific carboxy-terminal trimming, which removes the polyisoprenylation site from the precursor; implications for the structure of the nuclear lamina

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

The inner nuclear membrane

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https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Unusual type of benign x-linked muscular dystrophy

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https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

In vitro assay and characterization of the farnesylation-dependent prelamin A endoprotease

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Nuclear membrane dynamics and reassembly in living cells: targeting of an inner nuclear membrane protein in interphase and mitosis

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Direct interaction between emerin and lamin A

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Interaction between emerin and nuclear lamins

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Transcriptional repression, apoptosis, human disease and the functional evolution of the nuclear lamina

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Chromosome territories, nuclear architecture and gene regulation in mammalian cells

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Chromatin motion is constrained by association with nuclear compartments in human cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Nuclear pore complexes form immobile networks and have a very low turnover in live mammalian cells

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Demonstration of mechanical connections between integrins, cytoskeletal filaments, and nucleoplasm that stabilize nuclear structure

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Stress pathways and heart failure

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Characterization of adiposity and metabolism in Lmna-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

Structure of the globular tail of nuclear lamin

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0962-8924%2802%2902401-7

7 January 2021

10.1016/S0962-8924(02)02401-7

Identifiers

DOI

1 reference

5 August 2017

1 reference

PubMed ID

12495848