Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease. (Q34446739)

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31 December 2019

title

Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease (English)

1 reference

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main subject

haploinsufficiency

0 references

dilated cardiomyopathy

1 reference

1 reference

4

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Patrick G. Burgon

5

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Ferhaan Ahmad

6

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Glenn I Fishman

10

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J G Seidman

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15

Christine E Seidman

1 reference

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9

Hiroko Wakimoto

1 reference

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13

David A Conner

1 reference

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3

Ronny Alcalai

1 reference

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1

Cordula M Wolf

1 reference

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14

Charles I Berul

1 reference

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8

Dorothy M Branco

1 reference

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31 December 2019

author name string

Libin Wang

2

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Megan Sherwood

7

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Vincent See

11

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Colin L Stewart

12

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publication date

3 December 2007

1 reference

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Journal of Molecular and Cellular Cardiology

31 December 2019

published in

1 reference

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volume

44

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page(s)

293-303

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issue

2

1 reference

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describes a project that uses

31 December 2019

ImageJ

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11 June 2022

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based on heuristic

inferred from PubMed Central ID database lookup

cites work

Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Lamin A/C and cardiac diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Genetic basis of lipodystrophies and management of metabolic complications

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Prelamin A, Zmpste24, misshapen cell nuclei, and progeria--new evidence suggesting that protein farnesylation could be important for disease pathogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Nuclear envelope, nuclear lamina, and inherited disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Nuclear envelopathies--raising the nuclear veil

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

The nuclear membrane and mechanotransduction: impaired nuclear mechanics and mechanotransduction in lamin A/C deficient cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

The T-Box transcription factor Tbx5 is required for the patterning and maturation of the murine cardiac conduction system

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Apoptosis in the genesis of cardiac rhythm disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Bone morphogenetic protein-2 inhibits serum deprivation-induced apoptosis of neonatal cardiac myocytes through activation of the Smad1 pathway

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

AP-1 proteins in the adult brain: facts and fiction about effectors of neuroprotection and neurodegeneration

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Visualization and functional characterization of the developing murine cardiac conduction system

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Manipulating the contractile apparatus: genetically defined animal models of cardiovascular disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Apoptosis as a possible cause of gradual development of complete heart block and fatal arrhythmias associated with absence of the AV node, sinus node, and internodal pathways

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

A mechanism of AP-1 suppression through interaction of c-Fos with lamin A/C.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Targeted activation of c-Jun N-terminal kinase in vivo induces restrictive cardiomyopathy and conduction defects

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Implications of ventricular arrhythmia vulnerability during murine electrophysiology studies.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

c-Jun N-terminal kinase activation mediates downregulation of connexin43 in cardiomyocytes

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3011813

Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

27 October 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2007.11.008

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2007.11.008

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2007.11.008

In vivo cardiac electrophysiology studies in the mouse

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2007.11.008

Calciphylaxis with histologic changes of pseudoxanthoma elasticum

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2007.11.008

Co-localization of active caspase-3 and DNA fragmentation (TUNEL) in normal and hyperthermia-induced abnormal mouse development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2007.11.008

Direct activation of mitochondrial apoptosis machinery by c-Jun N-terminal kinase in adult cardiac myocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2007.11.008

Targeted ablation of the murine alpha-tropomyosin gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2007.11.008

10.1016/J.YJMCC.2007.11.008

7 January 2021

Identifiers

DOI

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release_c65edtawpbdkph4u3475qvaoea

31 December 2019

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31 December 2019

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