(Q34381768)

English

Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections

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scholarly article

1 reference

Europe PubMed Central

1 August 2017

Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections (English)

1 reference

Europe PubMed Central

1 August 2017

1 reference

based on heuristic

inferred from title

John W. Belmont

14

1 reference

Europe PubMed Central

1 August 2017

Joseph S Coselli

10

object named as

Joseph S Coselli

1 reference

Europe PubMed Central

1 August 2017

Suzanne M. Leal

12

object named as

Suzanne M Leal

1 reference

Europe PubMed Central

1 August 2017

author name string

Siddharth K Prakash

1

1 reference

Europe PubMed Central

1 August 2017

Scott A LeMaire

2

1 reference

Europe PubMed Central

1 August 2017

Dong-Chuan Guo

3

1 reference

Europe PubMed Central

1 August 2017

Ludivine Russell

4

1 reference

Europe PubMed Central

1 August 2017

Ellen S Regalado

5

1 reference

Europe PubMed Central

1 August 2017

Hossein Golabbakhsh

6

1 reference

Europe PubMed Central

1 August 2017

Ralph J Johnson

7

1 reference

Europe PubMed Central

1 August 2017

Hazim J Safi

8

1 reference

Europe PubMed Central

1 August 2017

Anthony L Estrera

9

1 reference

Europe PubMed Central

1 August 2017

Molly S Bray

11

1 reference

Europe PubMed Central

1 August 2017

Dianna M Milewicz

13

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Europe PubMed Central

1 August 2017

language of work or name

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publication date

18 November 2010

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Europe PubMed Central

1 August 2017

American Journal of Human Genetics

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Europe PubMed Central

1 August 2017

87

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Europe PubMed Central

1 August 2017

6

1 reference

Europe PubMed Central

1 August 2017

743-756

1 reference

Europe PubMed Central

1 August 2017

Thrombospondin type I domain containing 7A (THSD7A) mediates endothelial cell migration and tube formation

1 reference

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6 July 2018

Fibulin-4 deficiency results in ascending aortic aneurysms: a potential link between abnormal smooth muscle cell phenotype and aneurysm progression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997376

6 July 2018

Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997376

6 July 2018

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

1 reference

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6 July 2018

Common vs. rare allele hypotheses for complex diseases

1 reference

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6 July 2018

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

1 reference

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6 July 2018

Thoracic aortic aneurysm: reading the enemy's playbook.

1 reference

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6 July 2018

Ascending and arch aorta: pathology, natural history, and treatment

1 reference

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6 July 2018

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=2997376

6 July 2018

Pathology of the thoracic aorta: a morphologic review of 338 surgical specimens over a 7-year period

1 reference

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6 July 2018

The scavenger receptor class B type I adaptor protein PDZK1 maintains endothelial monolayer integrity.

1 reference

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6 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=2997376

6 July 2018

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 reference

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6 July 2018

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

1 reference

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6 July 2018

Ovol2/Movo, a homologue of Drosophila ovo, is required for angiogenesis, heart formation and placental development in mice

1 reference

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6 July 2018

GeneHub-GEPIS: digital expression profiling for normal and cancer tissues based on an integrated gene database

1 reference

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6 July 2018

Strong association of de novo copy number mutations with autism

1 reference

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6 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=2997376

6 July 2018

SH3 domain of spectrin participates in the activation of Rac in specialized calpain-induced integrin signaling complexes

1 reference

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6 July 2018

RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome

1 reference

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6 July 2018

Negative regulation of transforming growth factor-beta (TGF-beta) signaling by WW domain-containing protein 1 (WWP1)

1 reference

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6 July 2018

EMILIN-1 deficiency induces elastogenesis and vascular cell defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997376

6 July 2018

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997376

6 July 2018

BMPER, a novel endothelial cell precursor-derived protein, antagonizes bone morphogenetic protein signaling and endothelial cell differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997376

6 July 2018

Migfilin and Mig-2 link focal adhesions to filamin and the actin cytoskeleton and function in cell shape modulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997376

6 July 2018

Endostatin inhibits angiogenesis by stabilization of newly formed endothelial tubes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997376

6 July 2018

Molecular interactions of biglycan and decorin with elastic fiber components: biglycan forms a ternary complex with tropoelastin and microfibril-associated glycoprotein 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997376

6 July 2018

Molecular cloning and characterization of EndoGlyx-1, an EMILIN-like multisubunit glycoprotein of vascular endothelium

1 reference

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6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997376

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Modulation of integrin signal transduction by ILKAP, a protein phosphatase 2C associating with the integrin-linked kinase, ILK1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997376

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Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors

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Impaired vascular contractility and blood pressure homeostasis in the smooth muscle alpha-actin null mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997376

6 July 2018

Cystic medial degeneration of the aorta is associated with p53 accumulation, Bax upregulation, apoptotic cell death, and cell proliferation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997376

6 July 2018

Transforming growth factor-beta dynamically regulates vascular smooth muscle differentiation in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997376

6 July 2018

The thrombospondin receptor CD47 (IAP) modulates and associates with alpha2 beta1 integrin in vascular smooth muscle cells

1 reference

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6 July 2018

Integrin cleavage regulates bidirectional signalling in vascular smooth muscle cells.

1 reference

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

1 reference

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JAM-C induces endothelial cell permeability through its association and regulation of {beta}3 integrins.

1 reference

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Absence of TGFbeta signaling in embryonic vascular smooth muscle leads to reduced lysyl oxidase expression, impaired elastogenesis, and aneurysm

1 reference

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27 October 2018

Biglycan deficiency causes spontaneous aortic dissection and rupture in mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997376

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Long-term survival in patients presenting with type B acute aortic dissection: insights from the International Registry of Acute Aortic Dissection.

1 reference

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Galanin-like peptides exert potent vasoactive functions in vivo.

1 reference

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27 October 2018

Familial thoracic aortic aneurysms and dissections--incidence, modes of inheritance, and phenotypic patterns

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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

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Regulation of vascular smooth muscle cell proliferation and migration by human sprouty 2.

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Natural history of thoracic aortic aneurysms: indications for surgery, and surgical versus nonsurgical risks.

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Elevated expressions of osteopontin and tenascin C in ascending aortic aneurysms are associated with trileaflet aortic valves as compared with bicuspid aortic valves

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct

1 reference

https://pubmed.ncbi.nlm.nih.gov/21092924

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/21092924

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epidemiology of aortic aneurysm in the United States

1 reference

https://pubmed.ncbi.nlm.nih.gov/21092924

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/21092924

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aortic aneurysm formation five decades after tetralogy of Fallot repair

1 reference

https://pubmed.ncbi.nlm.nih.gov/21092924

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2010.09.015

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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