(Q35443492)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

main subject

dilated cardiomyopathy

1 reference

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

M Komajda

1 reference

ORCID Public Data File 2021

6 November 2019

1 reference

author name string

P Sébillon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

C Bouchier

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

L D Bidot

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

K Ahamed

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

V Drouin-Garraud

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

A Millaire

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

G Desrumeaux

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

A Benaïche

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

J-C Charniot

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

K Schwartz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

language of work or name

English

0 references

publication date

1 August 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

6 November 2019

published in

1 reference

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6 November 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

page(s)

560-567

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype

6 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

Familial dilated cardiomyopathy: clinical features in French families.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

Desmin mutation responsible for idiopathic dilated cardiomyopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

Tachycardia-induced cardiomyopathy: a review of animal models and clinical studies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

Familial dilated cardiomyopathy in the United Kingdom

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

The Frequency of Familial Dilated Cardiomyopathy in a Series of Patients with Idiopathic Dilated Cardiomyopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

Metavinculin mutations alter actin interaction in dilated cardiomyopathy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

A new frameshift mutation at codon 466 (1397delA) within the LMNA gene.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

Frequency and Phenotypes of Familial Dilated Cardiomyopathy

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

Idiopathic Dilated Cardiomyopathy

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735561

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

15 November 2018

1 reference

12 December 2020

High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation

1 reference

12 December 2020

Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease

1 reference

12 December 2020

Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation

1 reference

12 December 2020

Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy

1 reference

12 December 2020

Familial dilated cardiomyopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.40.8.560

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

PubMed publication ID

12920062

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12920062%20AND%20SRC:MED&resulttype=core&format=json