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Article

Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation.

The American journal of cardiology - 1 Sept 2008

Arrington Cammon B, Sower C Todd, Chuckwuk Naomi, Stevens Jeff, Leppert Mark F, Yetman Anji T, Bowles Neil E

Abstract excerpt

Mutations in the genes encoding transforming growth factor-beta receptor types I and II (TGFBR1 and TGFBR2, respectively) are commonly identified in patients with Loeys-Dietz syndrome, as well as some patients with Marfan's syndrome or familial thoracic aortic aneurysms and dissections. This suggests that there is considerable phenotypic heterogeneity associated with mutations in these genes. Because bicuspid...

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Share to Aorta, Thoracic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Heart Defects, Congenital

Share to Receptor, Transforming Growth Factor-beta Type I

Share to Receptor, Transforming Growth Factor-beta Type II

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Source

Identifiers

PMID: 18721526
DOI: 10.1016/j.amjcard.2008.04.044

Genes

TGFBR1
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation.PMID 18721526Read ↗

Valve-sparing aortic root replacement in Loeys-Dietz syndrome and a novel mutation in TGFBR2.Semantic proximity Read ↗

Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.Semantic proximity Read ↗

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

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.Semantic proximity Read ↗

Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical PhenotypeSemantic proximity Read ↗

Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome.Semantic proximity Read ↗

Loeys-Dietz syndrome.Semantic proximity Read ↗

Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and DiagnosisSemantic proximity Read ↗

Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections.Semantic proximity Read ↗

Decoding clinical diversity in monogenic TGFBR1 and TGFBR2 mutations: insights into the interplay of molecular mechanisms and hypomorphicitySemantic proximity Read ↗

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.Semantic proximity Read ↗

Aneurysm syndromes caused by mutations in the TGF-beta receptor.Semantic proximity Read ↗

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