(Q34873926)

5 August 2017

title

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections (English)

1 reference

5 August 2017

Wulf Blankenfeldt

3

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Joerg T. Epplen

object named as

Joerg T Epplen

7

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author name string

Sabine Hoffjan

1

1 reference

5 August 2017

Stephan Waldmüller

2

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5 August 2017

Judith Kötting

4

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5 August 2017

Petra Gehle

5

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5 August 2017

Priska Binner

6

1 reference

5 August 2017

Thomas Scheffold

8

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5 August 2017

publication date

19 January 2011

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European Journal of Human Genetics

5 August 2017

published in

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5 August 2017

volume

19

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5 August 2017

issue

5

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5 August 2017

page(s)

520-524

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Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083620

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083620

The nature of the globular- to fibrous-actin transition

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083620

Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083620

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083620

MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083620

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083620

The incidence of congenital heart disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083620

The crystal structure of uncomplexed actin in the ADP state

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083620

8 July 2018

The Protein Data Bank

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083620

8 July 2018

Domain motions in actin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083620

A simple salting out procedure for extracting DNA from human nucleated cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083620

Atomic model of the actin filament

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083620

Crystallization of actin in complex with actin-binding proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3083620

Genetic analysis of young adult patients with aortic disease not fulfilling the diagnostic criteria for Marfan syndrome.

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2010.239

Myosin phosphorylation and the cross-bridge cycle in arterial smooth muscle

21 January 2018

1 reference

12 December 2020

Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?

1 reference

12 December 2020

Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD)

1 reference

12 December 2020

Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2010.239

1 reference

5 August 2017

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5 August 2017

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