Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Human mutation - 1 Jan 2008

Frederic Melissa Yana, Hamroun Dalil, Faivre Laurence, Boileau Catherine, Jondeau Guillaume, Claustres Mireille, Béroud Christophe, Collod-Béroud Gwenaëlle

Abstract excerpt

The implication of mutations in the TGFBR2 gene, known to be involved in cancers, in Marfan syndrome (MFS) and later in Loeys-Dietz syndrome (LDS) and Familial Thoracic Aortic Aneurysms and Dissections (TAAD2) gives a new example of the complexity of one gene involved in multiple diseases. To date, known TGFBR2 mutations are not disease-specific and many mutations have to be accumulated before genotype-phenotype...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Computational Biology
Share to Databases, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Marfan Syndrome

Share to Models, Biological

Share to Protein Serine-Threonine Kinases

Share to Receptor, Transforming Growth Factor-beta Type II

Share to Receptors, Transforming Growth Factor beta

Share to Software

Source

Identifiers

PMID: 17935258
DOI: 10.1002/humu.20602

Genes

TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.PMID 17935258Read ↗

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

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.Semantic proximity Read ↗

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.Semantic proximity Read ↗

Role of TGFBR1 and TGFBR2 genetic variants in Marfan 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 ↗

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

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature DataSemantic proximity Read ↗

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

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.Semantic proximity Read ↗

Identification of TGFBR1 Gene Variants in Two Chinese Pedigrees with Loeys-Dietz Syndrome.Semantic proximity Read ↗

A novel mutation of TGFBR2 causing Loeys-Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.