Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy (Q27310698)

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scientific article (publication date: 2015)

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English	Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy	scientific article (publication date: 2015)

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Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy (English)

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8 June 2020

Monica Carmosino

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8 June 2020

Nicoletta Resta

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8 June 2020

Massimo Iacoviello

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8 June 2020

Francesco Pisani

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8 June 2020

Giuseppe Procino

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8 June 2020

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8 June 2020

Arnaldo Scardapane

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8 June 2020

Cristiano Simone

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8 June 2020

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8 June 2020

Silvia Torretta

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8 June 2020

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8 June 2020

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8 June 2020

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Rosanna Valecce

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8 June 2020

Sandro Sorrentino

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8 June 2020

Alessandra Rampazzo

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8 June 2020

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2015

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8 June 2020

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8 June 2020

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8 June 2020

e0121723

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8 June 2020

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Creative Commons Attribution 4.0 International

2 April 2015

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April 2022 Public Data File from Crossref

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Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy

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21 March 2017

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

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Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency.

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Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

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Role of nuclear Lamin A/C in cardiomyocyte functions

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28 September 2017

Lamin A/C mutations in dilated cardiomyopathy

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28 September 2017

Broken nuclei--lamins, nuclear mechanics, and disease.

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28 September 2017

'State-of-the-heart' of cardiac laminopathies.

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28 September 2017

Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.

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28 September 2017

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy

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28 September 2017

Pathophysiology of arrhythmogenic cardiomyopathy

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28 September 2017

Clinical and genetic heterogeneity in laminopathies.

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28 September 2017

Nuclear lamins and laminopathies.

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28 September 2017

Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes

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28 September 2017

Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy

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28 September 2017

Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

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28 September 2017

Dynamic complexes of A-type lamins and emerin influence adipogenic capacity of the cell via nucleocytoplasmic distribution of beta-catenin

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28 September 2017

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

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28 September 2017

Apoptosis in the genesis of cardiac rhythm disorders

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28 September 2017

In vivo evidence of apoptosis in arrhythmogenic right ventricular cardiomyopathy

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Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International S

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Normal and abnormal consequences of apoptosis in the human heart. From postnatal morphogenesis to paroxysmal arrhythmias

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High glucose protects single beating adult cardiomyocytes against hypoxia

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31 May 2018

Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

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21 January 2018

Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy.

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Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.

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Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria.

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

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A case of lamin A/C mutation cardiomyopathy with overlap features of ARVC: a critical role of genetic testing.

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Primary prevention of sudden death in patients with lamin A/C gene mutations.

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Intracellular signaling by reactive oxygen species during hypoxia in cardiomyocytes.

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Expanding the phenotype of sudden cardiac death-An unusual presentation of a family with a Lamin A/C mutation.

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Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects

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Evidence of Apoptosis in Arrhythmogenic Right Ventricular Dysplasia

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/25837155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Natural history of dilated cardiomyopathy due to lamin A/C gene mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/25837155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sudden death in a patient with lamin A/C gene mutation and near normal left ventricular systolic function

1 reference

https://pubmed.ncbi.nlm.nih.gov/25837155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arrhythmogenic right ventricular cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/25837155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/25837155

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0121723

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Consolidated OpenCitations Corpus – April 2017

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Europe PubMed Central

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8 June 2020

2015PLoSO..1021723F

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release_z3luodki2rarzkaaq3jmfljsma

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25837155%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

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2 references

Consolidated OpenCitations Corpus – April 2017

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25837155%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

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