Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations (Q36148333)

12 August 2017

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations (English)

1 reference

12 August 2017

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1 reference

Ellen S Regalado

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5 June 2020

Dong-chuan Guo

2

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5 June 2020

Siddharth Prakash

3

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5 June 2020

Tracy A Bensend

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5 June 2020

Kelly Flynn

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5 June 2020

Anthony Estrera

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5 June 2020

Hazim Safi

7

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5 June 2020

David Liang

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5 June 2020

James Hyland

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5 June 2020

Anne Child

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5 June 2020

Gavin Arno

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5 June 2020

Guillaume Jondeau

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5 June 2020

Alan Braverman

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5 June 2020

Rocio Moran

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5 June 2020

Takayuki Morisaki

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5 June 2020

Hiroko Morisaki

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5 June 2020

Montalcino Aortic Consortium

18

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5 June 2020

Reed Pyeritz

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5 June 2020

Scott LeMaire

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5 June 2020

Dianna M Milewicz

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5 June 2020

publication date

10 March 2015

1 reference

Circulation: Cardiovascular Genetics

12 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25759435%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

8

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5 June 2020

issue

3

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5 June 2020

page(s)

457-464

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Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections

5 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

Mutations in myosin light chain kinase cause familial aortic dissections

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease. A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guideli

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guideli

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

Aneurysm syndromes caused by mutations in the TGF-beta receptor

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

Heterozygous TGFBR2 mutations in Marfan syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

The International Registry of Acute Aortic Dissection (IRAD): new insights into an old disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

Prevalence and clinical outcome of mitral-valve prolapse.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

Familial patterns of thoracic aortic aneurysms.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

Acute aortic dissections with pregnancy in women with ACTA2 mutations.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

Aortic event rate in the Marfan population: a cohort study.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601641

Familial thoracic aortic dilatations and dissections: a case control study

5 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25759435

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25759435

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25759435

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1161/CIRCGENETICS.114.000943

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25759435%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25759435%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

PubMed publication ID

25759435

1 reference