(Q33973428)

English

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

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scholarly article

1 reference

Europe PubMed Central

30 July 2017

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

1 reference

Europe PubMed Central

30 July 2017

thoracic aortic aneurysm

1 reference

based on heuristic

inferred from title

12

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30 July 2017

object named as

Lorne Clarke

7

0 references

Deborah A Nickerson

14

object named as

Deborah A Nickerson

1 reference

Europe PubMed Central

30 July 2017

François P. Bernier

8

object named as

Francois Bernier

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Europe PubMed Central

30 July 2017

13

object named as

Mark J Rieder

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Europe PubMed Central

30 July 2017

Ellen S Regalado

1

object named as

Ellen S Regalado

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Europe PubMed Central

30 July 2017

Suzanne M. Leal

10

object named as

Suzanne M Leal

1 reference

Europe PubMed Central

30 July 2017

NHLBI GO Exome Sequencing Project

15

object named as

NHLBI GO Exome Sequencing Project

1 reference

Europe PubMed Central

30 July 2017

Dianna M Milewicz

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object named as

Dianna M Milewicz

1 reference

Europe PubMed Central

30 July 2017

author name string

Dong-Chuan Guo

2

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Europe PubMed Central

30 July 2017

Carlos Villamizar

3

1 reference

Europe PubMed Central

30 July 2017

Nili Avidan

4

1 reference

Europe PubMed Central

30 July 2017

Dawna Gilchrist

5

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Europe PubMed Central

30 July 2017

Barbara McGillivray

6

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Europe PubMed Central

30 July 2017

Regie L Santos-Cortez

9

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Europe PubMed Central

30 July 2017

Aida M Bertoli-Avella

11

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30 July 2017

publication date

21 July 2011

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Europe PubMed Central

30 July 2017

Circulation Research

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Europe PubMed Central

30 July 2017

109

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30 July 2017

680-686

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30 July 2017

6

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Europe PubMed Central

30 July 2017

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

5 July 2018

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

5 July 2018

TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

5 July 2018

Smad3 signaling critically regulates fibroblast phenotype and function in healing myocardial infarction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

5 July 2018

Fast and accurate long-read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

5 July 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

5 July 2018

Effect of TGF-beta/Smad signaling pathway on lung myofibroblast differentiation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

5 July 2018

Aneurysm syndromes caused by mutations in the TGF-beta receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

5 July 2018

The mechanism of nuclear export of Smad3 involves exportin 4 and Ran

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

5 July 2018

Smad2 and Smad3 play different roles in rat hepatic stellate cell function and alpha-smooth muscle actin organization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

5 July 2018

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

5 July 2018

Targeted disruption of Smad3 reveals an essential role in transforming growth factor beta-mediated signal transduction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

5 July 2018

Faster sequential genetic linkage computations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

5 July 2018

A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

29 October 2018

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

29 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

29 October 2018

Compound disruption of smad2 accelerates malignant progression of intestinal tumors in apc knockout mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

29 October 2018

Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4115811

29 October 2018

Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14

1 reference

https://pubmed.ncbi.nlm.nih.gov/21778426

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms

1 reference

https://pubmed.ncbi.nlm.nih.gov/21778426

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms

1 reference

https://pubmed.ncbi.nlm.nih.gov/21778426

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections

1 reference

https://pubmed.ncbi.nlm.nih.gov/21778426

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1161/CIRCRESAHA.111.248161

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

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