(Q34015228)

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Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

morphological analysis

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

dilated cardiomyopathy

1 reference

based on heuristic

inferred from title

familial dilated cardiomyopathy

1 reference

based on heuristic

inferred from title

author name string

Jason Cowan

1

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Duanxiang Li

2

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Jorge Gonzalez-Quintana

3

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Ana Morales

4

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Ray E Hershberger

5

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

publication date

17 November 2009

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Circulation: Cardiovascular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

6-14

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

5 July 2018

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=2908895

5 July 2018

Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

5 July 2018

The prelamin A pre-peptide induces cardiac and skeletal myoblast differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

5 July 2018

Human laminopathies: nuclei gone genetically awry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

5 July 2018

The laminopathies: a clinical review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

5 July 2018

The laminopathies: the functional architecture of the nucleus and its contribution to disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

5 July 2018

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=2908895

5 July 2018

Clinical and genetic issues in familial dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

5 July 2018

Altered protein dynamics of disease-associated lamin A mutants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

5 July 2018

Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

5 July 2018

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=2908895

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

5 July 2018

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

5 July 2018

Intermediate filament protein polymerization: molecular analysis of Drosophila nuclear lamin head-to-tail binding.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

5 July 2018

The CaaX motif of lamin A functions in conjunction with the nuclear localization signal to target assembly to the nuclear envelope

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

5 July 2018

Lamins A and C are differentially dysfunctional in 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=2908895

29 October 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=2908895

29 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

29 October 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=2908895

29 October 2018

Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for 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=2908895

29 October 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=2908895

29 October 2018

Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

29 October 2018

Nuclear alterations in 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=2908895

29 October 2018

Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2908895

29 October 2018

Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660)

1 reference

https://pubmed.ncbi.nlm.nih.gov/20160190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

1 reference

https://pubmed.ncbi.nlm.nih.gov/20160190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20160190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20160190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20160190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20160190

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/20160190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/20160190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

LMNA mutation position predicts organ system involvement in laminopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/20160190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS

1 reference

https://pubmed.ncbi.nlm.nih.gov/20160190

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1161/CIRCGENETICS.109.905422

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

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