(Q26828019)

English

Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23868829%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility (English)

2 references

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23868829%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

thoracic aortic aneurysm

1 reference

based on heuristic

inferred from title

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23868829%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

author name string

Elisabeth Gillis

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23868829%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Lut Van Laer

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23868829%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

language of work or name

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publication date

1 July 2013

1 reference

Europe PubMed Central

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5 March 2020

Circulation Research

2 references

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23868829%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

113

2 references

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23868829%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

3

2 references

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23868829%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

327-340

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23868829%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

International nosology of heritable disorders of connective tissue, Berlin, 1986

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Elevated TGFbeta-Smad signalling in experimental Pkd1 models and human patients with polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Revised diagnostic criteria for the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Thoracic aortic aneurysm: reading the enemy's playbook

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Biogenesis and function of fibrillin assemblies

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in myosin light chain kinase cause familial aortic dissections

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Normal limits in relation to age, body size and gender of two-dimensional echocardiographic aortic root dimensions in persons ≥15 years of age.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Stem cells in thoracic aortic aneurysms and dissections: potential contributors to aortic repair

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Genes and abdominal aortic aneurysm

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

The role of TGF-beta signaling in myocardial infarction and cardiac remodeling

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

The bicuspid aortic valve

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation of smooth muscle myosin causes epithelial invasion and cystic expansion of the zebrafish intestine

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Effects of aging and body size on proximal and ascending aorta and aortic arch: inner edge-to-inner edge reference values in a large adult population by two-dimensional transthoracic echocardiography.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Aortic valve disease in Turner syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Matrix metalloproteinases in ascending aortic aneurysms: bicuspid versus trileaflet aortic valves

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Important role of the angiotensin II pathway in producing matrix metalloproteinase-9 in human thoracic aortic aneurysms.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Ubiquitin fusion degradation 1-like gene dysregulation in bicuspid aortic valve.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide association.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic and environmental contributions to abdominal aortic aneurysm development in a twin population

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Losartan added to β-blockade therapy for aortic root dilation in Marfan syndrome: a randomized, open-label pilot study.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Filamins: promiscuous organizers of the cytoskeleton

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Matrix metalloproteinase inhibition therapy for vascular diseases

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Immunohistochemical abnormalities of fibrillin in cardiovascular tissues in Marfan's syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Vascular matrix remodeling in patients with bicuspid aortic valve malformations: implications for aortic dilatation.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Acute aortic syndromes and thoracic aortic aneurysm

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Marfan's syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Celiprolol therapy for vascular Ehlers-Danlos syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Polycystic kidneys and abdominal aortic aneurysms

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Aortic aneurysms in presence of kidney disease

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial thoracic aortic dilatations and dissections: a case control study

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Transforming growth factor beta in cardiovascular development and function

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

TGF-beta signalling from cell membrane to nucleus through SMAD proteins

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in NOTCH1 cause aortic valve disease

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Lessons on the pathogenesis of aneurysm from heritable conditions

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Heterozygous TGFBR2 mutations in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

The genetics and physiology of polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

The Marfan Syndrome: Diagnosis and Management

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Aneurysm syndromes caused by mutations in the TGF-beta receptor

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Angiotensin II blockade and aortic-root dilation in Marfan's syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Fibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidase

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Thoracic aortic aneurysm (TAAD)-causing mutation in actin affects formin regulation of polymerization

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Dedicated myosin light chain kinases with diverse cellular functions

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

A combined proteomic and transcriptomic approach shows diverging molecular mechanisms in thoracic aortic aneurysm development in patients with tricuspid- and bicuspid aortic valve

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Dual role for the latent transforming growth factor-beta binding protein in storage of latent TGF-beta in the extracellular matrix and as a structural matrix protein.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Structural basis of filamin A functions

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Risk factors for abdominal aortic aneurysm: results of a case-control study

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

The Loeys-Dietz syndrome: an update for the clinician

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Contemporary management of vascular Ehlers-Danlos syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Notch promotes epithelial-mesenchymal transition during cardiac development and oncogenic transformation

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

The revised Ghent nosology for the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Bicuspid aortic valve disease and ascending aortic aneurysms: gaps in knowledge.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Abnormal extracellular matrix protein transport associated with increased apoptosis of vascular smooth muscle cells in marfan syndrome and bicuspid aortic valve thoracic aortic aneurysm

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Association between the coronary artery disease risk locus on chromosome 9p21.3 and abdominal aortic aneurysm

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Medical therapy of thoracic aortic aneurysms: are we there yet?

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Normal values for aortic diameters in children and adolescents--assessment in vivo by contrast-enhanced CMR-angiography

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic basis of thoracic aortic aneurysms and dissections: potential relevance to abdominal aortic aneurysms

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Association of intracranial aneurysm and Loeys-Dietz syndrome: case illustration, management, and literature review

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Assembly of fibrillin microfibrils governs extracellular deposition of latent TGF beta.

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Role of the latent transforming growth factor beta binding protein 1 in fibrillin-containing microfibrils in bone cells in vitro and in vivo

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Notch signaling in descending thoracic aortic aneurysm and dissection

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Cystic medial necrosis: pathological findings and clinical implications

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevalence and associations of abdominal aortic aneurysm detected through screening. Aneurysm Detection and Management (ADAM) Veterans Affairs Cooperative Study Group

1 reference

https://api.crossref.org/works/10.1161%2FCIRCRESAHA.113.300675

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1161/CIRCRESAHA.113.300675

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23868829%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23868829%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

ResearchGate publication ID

0 references

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