LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies (Q34736236)

4 August 2017

title

LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies (English)

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4 August 2017

main subject

dilated cardiomyopathy

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Zofia T Bilinska

2

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13

Jacek Grzybowski

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4 August 2017

16

Jerzy Korewicki

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Małgorzata Sobieszczańska-Małek

4 August 2017

6

object named as

Malgorzata Sobieszczanska-Malek

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4 August 2017

10

Lukasz Malek

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4 August 2017

14

Andrzej Przybylski

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4 August 2017

Michal Saj

1

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4 August 2017

Agnieszka Tarnowska

3

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4 August 2017

Agnieszka Sioma

4

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4 August 2017

Pierrette Bolongo

5

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4 August 2017

Ewa Michalak

7

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4 August 2017

Dorota Golen

8

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4 August 2017

Lukasz Mazurkiewicz

9

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4 August 2017

Ewa Walczak

11

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4 August 2017

Anna Fidzianska

12

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4 August 2017

Tomasz Zielinski

15

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4 August 2017

Frederique Tesson

17

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4 August 2017

publication date

23 May 2013

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4 August 2017

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4 August 2017

volume

14

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4 August 2017

page(s)

55

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Lamin A/C mutants disturb sumo1 localization and sumoylation in vitro and in vivo

4 August 2017

cites work

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7 July 2018

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Clinical and genetic heterogeneity in laminopathies.

7 July 2018

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Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals

7 July 2018

1 reference

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Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations

7 July 2018

1 reference

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The genetics of dilated cardiomyopathy

7 July 2018

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Laminopathies and the long strange trip from basic cell biology to therapy

7 July 2018

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Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

7 July 2018

1 reference

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Specific contribution of lamin A and lamin C in the development of laminopathies.

7 July 2018

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Clustal W and Clustal X version 2.0

7 July 2018

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Lamin A/C and cardiac diseases

7 July 2018

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Quantitative analysis of localization and nuclear aggregate formation induced by GFP-lamin A mutant proteins in living HeLa cells.

7 July 2018

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In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients

7 July 2018

1 reference

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The nuclear envelope and human disease

7 July 2018

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Primer3 on the WWW for general users and for biologist programmers

7 July 2018

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Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases

7 July 2018

1 reference

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Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-55

PIRA PCR designer for restriction analysis of single nucleotide polymorphisms

21 January 2018

1 reference

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Lamin A and lamin C form homodimers and coexist in higher complex forms both in the nucleoplasmic fraction and in the lamina of cultured human cells.

21 January 2018

1 reference

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The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-55

Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-55

Variants of the lamin A/C (LMNA) gene in non-valvular atrial fibrillation patients: a possible pathogenic role of the Thr528Met mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-55

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-55

Treatment with selumetinib preserves cardiac function and improves survival in cardiomyopathy caused by mutation in the lamin A/C gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-55

Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-55

Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-55

Gene symbol: CMD1A. Disease: Dilated cardiomyopathy associated with conduction system disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666888

[Multicenter national Polish population health status tests--WOBASZ project with defined problems and treatment goals]

9 December 2018

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

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

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

1 reference

12 December 2020

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations

1 reference

12 December 2020

A new c.1621 C>G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype–phenotype correlation

1 reference

12 December 2020

Cardiac involvement in patients with lamin A/C gene mutations: A cohort observation

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12 December 2020

Identifiers

DOI

10.1186/1471-2350-14-55

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Dimensions Publication ID

4 August 2017

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4 August 2017

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