(Q44326037)

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The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins

scientific article published on 31 August 2013

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Europe PubMed Central

PubMed publication ID

2 December 2017

The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins (English)

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Europe PubMed Central

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2 December 2017

dilated cardiomyopathy

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based on heuristic

inferred from title

Johan Palmfeldt

3

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Europe PubMed Central

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2 December 2017

Abdelaziz Beqqali

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Abdelaziz Beqqali

5

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Jens Mogensen

9

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Peter Bross

10

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Rasha Al-Saaidi

1

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Europe PubMed Central

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2 December 2017

Torsten B Rasmussen

2

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Europe PubMed Central

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2 December 2017

Peter H Nissen

4

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Europe PubMed Central

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2 December 2017

Jakob Hansen

6

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Europe PubMed Central

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2 December 2017

Yigal M Pinto

7

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2 December 2017

Thomas Boesen

8

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2 December 2017

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publication date

31 August 2013

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2 December 2017

Experimental Cell Research

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2 December 2017

319

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2 December 2017

19

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Europe PubMed Central

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2 December 2017

3010-3019

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Europe PubMed Central

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2 December 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://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

Isoprenylation is required for the processing of the lamin A precursor

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

Nomenclature for the description of human sequence variations

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

Regulation of prelamin A but not lamin C by miR-9, a brain-specific microRNA.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

Downregulation of lamin A by tumor suppressor AIMP3/p18 leads to a progeroid phenotype in mice.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

Interaction between emerin and nuclear lamins

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

Subcellular localization of SUN2 is regulated by lamin A and Rab5

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2013.08.024

7 January 2021

Identifiers

10.1016/J.YEXCR.2013.08.024

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

ResearchGate publication ID

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