(Q54762320)

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Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects.

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scholarly article

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/12898247

Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects. (English)

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/12898247

atrioventricular block

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based on heuristic

inferred from title

dilated cardiomyopathy

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based on heuristic

inferred from title

Eloisa Arbustini

8

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Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/12898247

7

object named as

Luigi Tavazzi

1 reference

Europe PubMed Central

3 June 2018

author name string

Laura Verga

1

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/12898247

Monica Concardi

2

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/12898247

Andrea Pilotto

3

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/12898247

Ornella Bellini

4

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/12898247

Michele Pasotti

5

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/12898247

Alessandra Repetto

6

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/12898247

publication date

26 July 2003

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/12898247

Virchows Archiv

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Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/12898247

443

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Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/12898247

5

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Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/12898247

664-671

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Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/12898247

https://scigraph.springernature.com/pub.10.1007/s00428-003-0865-4

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes?

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the LMNA gene encoding lamin A/C

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https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High resolution scanning electron microscopy of the nuclear envelope: demonstration of a new, regular, fibrous lattice attached to the baskets of the nucleoplasmic face of the nuclear pores

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https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distinct nuclear assembly pathways for lamins A and C lead to their increase during quiescence in Swiss 3T3 cells.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD).

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The nuclear lamins. A multigene family of proteins in evolution and differentiation

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence-based diagnosis of familial non-X-linked dilated cardiomyopathy. Prevalence, inheritance and characteristics

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Insertional mutation of the Drosophila nuclear lamin Dm0 gene results in defective nuclear envelopes, clustering of nuclear pore complexes, and accumulation of annulate lamellae

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The nuclear envelope in muscular dystrophy and cardiovascular diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nuclear envelope dynamics

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The cell cycle dependent mislocalisation of emerin may contribute to the Emery-Dreifuss muscular dystrophy phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/12898247

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00428-003-0865-4

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/12898247

1 reference

Europe PubMed Central

3 June 2018

http://europepmc.org/abstract/MED/12898247

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