(Q36820944)

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Structure of the Elastin-Contractile Units in the Thoracic Aorta and How Genes That Cause Thoracic Aortic Aneurysms and Dissections Disrupt This Structure

scientific article published on 10 November 2015

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Structure of the Elastin-Contractile Units in the Thoracic Aorta and How Genes That Cause Thoracic Aortic Aneurysms and Dissections Disrupt This Structure (English)

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

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author name string

Ashkan Karimi

1

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Dianna M Milewicz

2

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

publication date

10 November 2015

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

The Canadian Journal of Cardiology

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

32

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

1

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

26-34

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Role of mechanotransduction in vascular biology: focus on 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=4839280

29 September 2017

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of 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=4839280

29 September 2017

Use of genetics for personalized management of heritable thoracic aortic disease: how do we get there?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

The role of mechanotransduction on vascular smooth muscle myocytes' [corrected] cytoskeleton and contractile function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

C-terminal propeptide is required for fibrillin-1 secretion and blocks premature assembly through linkage to domains cbEGF41-43.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Angiotensin-converting enzyme-induced activation of local angiotensin signaling is required for ascending aortic aneurysms in fibulin-4-deficient mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Complex roles of filamin-A mediated cytoskeleton network in cancer progression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections 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=4839280

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Epidemiology of thoracic aortic dissection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Mutations in myosin light chain kinase cause familial aortic dissections

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

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=4839280

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

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=4839280

29 September 2017

Vascular extracellular matrix and arterial mechanics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Transforming growth factor-beta signaling in thoracic aortic aneurysm development: a paradox in pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Medical management of Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

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=4839280

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

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=4839280

29 September 2017

Weight lifting and aortic dissection: more evidence for a connection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Fibrillin-1 misfolding and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

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=4839280

29 September 2017

Periventricular heterotopia: new insights into Ehlers-Danlos syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

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=4839280

29 September 2017

Acute aortic dissection related to crack cocaine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Dedicated myosin light chain kinases with diverse cellular functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Carboxy-terminal conversion of profibrillin to fibrillin at a basic site by PACE/furin-like activity required for incorporation in the matrix

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Novel arterial pathology in mice and humans hemizygous for elastin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Elastin is an essential determinant of arterial morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Familial aortic dissecting aneurysm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

29 September 2017

Cell biology. Dysfunctional mechanosensing in aneurysms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

5 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

5 September 2018

Aortic diameter >or = 5.5 cm is not a good predictor of type A aortic dissection: observations from the International Registry of Acute Aortic Dissection (IRAD).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

5 September 2018

Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

5 September 2018

Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

5 September 2018

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

5 September 2018

Structural consequences of cysteine substitutions C1977Y and C1977R in calcium-binding epidermal growth factor-like domain 30 of human fibrillin-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

5 September 2018

Cocaine-related aortic dissection in perspective

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4839280

5 September 2018

Characterization of the inflammatory and apoptotic cells in the aortas of patients with ascending 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=4839280

4 December 2018

The interaction between the regulatory light chain domains on two heads is critical for regulation of smooth muscle myosin

1 reference

https://pubmed.ncbi.nlm.nih.gov/26724508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1

1 reference

https://pubmed.ncbi.nlm.nih.gov/26724508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial sequence of a candidate gene for the Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/26724508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The cytoskeleton of the vertebrate smooth muscle cell

1 reference

https://pubmed.ncbi.nlm.nih.gov/26724508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Location on chromosome 15 of the gene defect causing Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/26724508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Smooth muscle cell to elastic lamina connections in developing mouse aorta. Role in aortic medial organization

1 reference

https://pubmed.ncbi.nlm.nih.gov/26724508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/26724508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26724508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

1 reference

https://pubmed.ncbi.nlm.nih.gov/26724508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms

1 reference

https://pubmed.ncbi.nlm.nih.gov/26724508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26724508

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/26724508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperplastic cellular remodeling of the media in ascending thoracic aortic aneurysms

1 reference

https://pubmed.ncbi.nlm.nih.gov/26724508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cyclic mechanical strain regulates the development of engineered smooth muscle tissue

1 reference

https://pubmed.ncbi.nlm.nih.gov/26724508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial thoracic aortic dilatations and dissections: a case control study

1 reference

https://pubmed.ncbi.nlm.nih.gov/26724508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.CJCA.2015.11.004

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

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