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Article

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

Human mutation - 1 Aug 2006

Mátyás Gábor, Arnold Eliane, Carrel Thierry, Baumgartner Daniela, Boileau Catherine, Berger Wolfgang, Steinmann Beat

Abstract excerpt

Very recently, heterozygous mutations in the genes encoding transforming growth factor beta receptors I (TGFBR1) and II (TGFBR2) have been reported in Loeys-Dietz aortic aneurysm syndrome (LDS). In addition, dominant TGFBR2 mutations have been identified in Marfan syndrome type 2 (MFS2) and familial thoracic aortic aneurysms and dissections (TAAD). In the past, mutations of these genes were associated with...

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Source

Identifiers

PMID: 16791849
DOI: 10.1002/humu.20353

Genes

TGFBR2
TGFBR1
FBN1

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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Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.PMID 16791849Read ↗

Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome.Semantic proximity Read ↗

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

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

Heterozygous TGFBR2 mutations in Marfan syndrome.Semantic proximity Read ↗

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.Semantic proximity Read ↗

A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.Semantic proximity Read ↗

Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.Semantic proximity Read ↗

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.Semantic proximity Read ↗

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.Semantic proximity Read ↗

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Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.Semantic proximity Read ↗

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