(Q37603454)

English

Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption

scientific article published on 03 February 2010

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption (English)

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

0 references

dilated cardiomyopathy

1 reference

based on heuristic

inferred from title

Zofia Bilińska

object named as

Zofia T Bilinska

2

0 references

0 references

Jacek Grzybowski

12

object named as

Jacek Grzybowski

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

11

object named as

Michal Walski

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

author name string

Pallavi Gupta

1

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Nicolas Sylvius

3

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Emilie Boudreau

4

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

John P Veinot

5

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Sarah Labib

6

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Pierrette M Bolongo

7

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Akil Hamza

8

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Tracy Jackson

9

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Ewa Walczak

13

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Grzegorz Religa

14

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Anna Fidzianska

15

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Frédérique Tesson

16

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

publication date

3 February 2010

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Basic Research in Cardiology

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

105

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

3

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

365-377

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

The A- and B-type nuclear lamin networks: microdomains involved in chromatin organization and transcription

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

Genetics of dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

Structural analysis of four and half LIM protein-2 in dilated cardiomyopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

Nuclear titin interacts with A- and B-type lamins in vitro and in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

Novel progerin-interactive partner proteins hnRNP E1, EGF, Mel 18, and UBC9 interact with lamin A/C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

The nuclear lamina comes of age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 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?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

Proteins that bind A-type lamins: integrating isolated clues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

The nucleoskeleton: lamins and actin are major players in essential nuclear functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

Alteration of nuclear lamin organization inhibits RNA polymerase II-dependent transcription

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

Nuclear envelope and nuclear matrix: interactions and dynamics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

Nuclear lamins A and B1: different pathways of assembly during nuclear envelope formation in living cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

Lamina-associated polypeptide 2alpha binds intranuclear A-type lamins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

Disruption of nuclear lamin organization blocks the elongation phase of DNA replication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

Right ventricular outflow tract tachycardia due to a somatic cell mutation in G protein subunitalphai2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

The characterization and localization of the mouse thymopoietin/lamina-associated polypeptide 2 gene and its alternatively spliced products

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

Internal lamin structures within G1 nuclei of human dermal fibroblasts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

Dynamic properties of nuclear lamins: lamin B is associated with sites of DNA replication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

23 August 2017

Essential roles for Caenorhabditis elegans lamin gene in nuclear organization, cell cycle progression, and spatial organization of nuclear pore complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

6 September 2017

Nuclear organization of DNA replication in primary mammalian cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

14 September 2017

Incorporation of the nuclear pore basket protein nup153 into nuclear pore structures is dependent upon lamina assembly: evidence from cell-free extracts of Xenopus eggs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

14 September 2017

Ultrastructural morphometric analysis of endomyocardial biopsies. Idiopathic dilated cardiomyopathy, anthracycline cardiotoxicity, and normal myocardium.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

25 June 2018

The morphologic spectrum of dilated cardiomyopathy and its relation to immune-response genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

25 June 2018

Obliteration of cardiomyocyte nuclear architecture in a patient with LMNA gene mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

1 September 2018

Alpha B-crystallin mutation in dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

1 September 2018

Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

1 September 2018

Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

1 September 2018

Crystal structure of the human lamin A coil 2B dimer: implications for the head-to-tail association of nuclear lamins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

1 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

1 September 2018

Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

1 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

1 September 2018

Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

1 September 2018

Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

1 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

1 September 2018

Electron microscopic investigation of endomyocardial biopsy samples in hypertrophy and cardiomyopathy. A semiquantitative study in 48 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

1 September 2018

Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934843

3 December 2018

Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant 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=3934843

3 December 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20127487

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/20127487

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/20127487

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20127487

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of lamin LIII in nuclear assembly and DNA replication, in cell-free extracts of Xenopus eggs

1 reference

https://pubmed.ncbi.nlm.nih.gov/20127487

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered nucleus/cytoplasm relationship and degenerative structural changes in human dilated cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20127487

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20127487

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dilated cardiomyopathy caused by LMNA mutations. Clinical and morphological studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/20127487

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of exon deletions within an entire gene (CFTR) by relative quantification on the LightCycler

1 reference

https://pubmed.ncbi.nlm.nih.gov/20127487

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00395-010-0085-4

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q37603454&oldid=2200626346"