Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. (Q35658966)

9 August 2017

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

1 reference

9 August 2017

15

Anne De Paepe

0 references

Diogo Cavaco

Diogo Cavaco

10

0 references

Julie De Backer

Julie De Backer

16

0 references

Bert Callewaert

Bert Callewaert

2

0 references

Bart L Loeys

Bart Loeys

14

0 references

Jean-Pierre Fryns

6

Jean-Pierre Fryns

1 reference

Constance T R M Schrander-Stumpel

9 August 2017

12

Constance Schrander-Stumpel

1 reference

9 August 2017

Marjolijn Renard

1

1 reference

9 August 2017

Machteld Baetens

3

1 reference

9 August 2017

Laurence Campens

4

1 reference

9 August 2017

Kay MacDermot

5

1 reference

9 August 2017

Maryse Bonduelle

7

1 reference

9 August 2017

Harry C Dietz

8

1 reference

9 August 2017

Isabel Mendes Gaspar

9

1 reference

9 August 2017

Eva-Lena Stattin

11

1 reference

9 August 2017

Paul Coucke

13

1 reference

9 August 2017

19 September 2011

1 reference

International Journal of Cardiology

9 August 2017

1 reference

9 August 2017

165

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9 August 2017

2

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9 August 2017

314-321

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New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

Mutations in myosin light chain kinase cause familial aortic dissections

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

TGF-β signaling in aortic aneurysm: another round of controversy.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

Potential role for heparan sulfate proteoglycans in regulation of transforming growth factor-beta (TGF-beta) by modulating assembly of latent TGF-beta-binding protein-1.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

Aneurysm syndromes caused by mutations in the TGF-beta receptor

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

Fibronectin regulates latent transforming growth factor-beta (TGF beta) by controlling matrix assembly of latent TGF beta-binding protein-1.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

The crystal structure of uncomplexed actin in the ADP state

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

Regulation of differentiation of vascular smooth muscle cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

Epidemiology of aortic aneurysms: I. Mortality trends in the United States, 1951 to 1981.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

Assembly of fibronectin extracellular matrix

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

The revised Ghent nosology for the Marfan syndrome

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

Fibrillin assembly requires fibronectin.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

Fibronectin and heparin binding domains of latent TGF-beta binding protein (LTBP)-4 mediate matrix targeting and cell adhesion.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253210

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

25 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial thoracic aortic dilatations and dissections: a case control study

1 reference

12 December 2020

New insights into extracellular matrix assembly and reorganization from dynamic imaging of extracellular matrix proteins in living osteoblasts

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

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

1 reference

12 December 2020

Analysis of ACTA2 in European Moyamoya disease patients

1 reference

12 December 2020

10.1016/J.IJCARD.2011.08.079

Identifiers

DOI

1 reference

9 August 2017

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9 August 2017

1 reference