Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

TGF-beta receptor type-2

The TGFBR2 gene encodes a TGF-beta receptor. Mutations cause autosomal dominant Loeys-Dietz syndrome 2, a connective tissue disease affecting the vascular and skeletal system.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Loeys-Dietz syndrome 2
TGFBR2

References:

1.

Ozdamar B et al. (2005) Regulation of the polarity protein Par6 by TGFbeta receptors controls epithelial cell plasticity.

external link
2.

Li S et al. (2020) Cancer immunotherapy via targeted TGF-β signalling blockade in T cells.

external link
3.

Lin HY et al. (1992) Expression cloning of the TGF-beta type II receptor, a functional transmembrane serine/threonine kinase.

external link
4.

Liu M et al. (2020) TGF-β suppresses type 2 immunity to cancer.

external link
5.

Lu SL et al. (1998) HNPCC associated with germline mutation in the TGF-beta type II receptor gene.

external link
6.

Markowitz S et al. (1995) Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability.

external link
7.

Mathew S et al. (1994) Transforming growth factor receptor gene TGFBR2 maps to human chromosome band 3p22.

external link
8.

Mizuguchi T et al. (2004) Heterozygous TGFBR2 mutations in Marfan syndrome.

external link
9.

Myeroff LL et al. (1995) A transforming growth factor beta receptor type II gene mutation common in colon and gastric but rare in endometrial cancers with microsatellite instability.

external link
10.

Neptune ER et al. (2003) Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome.

external link
11.

Li MO et al. (2006) Transforming growth factor-beta controls development, homeostasis, and tolerance of T cells by regulatory T cell-dependent and -independent mechanisms.

external link
12.

Pannu H et al. (2005) Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.

external link
13.

Parsons R et al. (1995) Microsatellite instability and mutations of the transforming growth factor beta type II receptor gene in colorectal cancer.

external link
14.

Sanford LP et al. (1997) TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes.

external link
15.

Souza RF et al. (1996) Microsatellite instability in the insulin-like growth factor II receptor gene in gastrointestinal tumours.

external link
16.

Takenoshita S et al. (1996) The genomic structure of the gene encoding the human transforming growth factor beta type II receptor (TGF-beta RII).

external link
17.

Tanaka S et al. (2000) A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma.

external link
18.

Tannergård P et al. (1997) Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer.

external link
19.

Tooley MJ et al. (2017) Extreme phenotypes of Loeys Dietz syndrome.

external link
20.

Watanabe T et al. (2001) Molecular predictors of survival after adjuvant chemotherapy for colon cancer.

external link
21.

Eshleman JR et al. (1995) Microsatellite instability in inherited and sporadic neoplasms.

external link
22.

De Paepe A et al. (1996) Revised diagnostic criteria for the Marfan syndrome.

external link
23.

Loeys BL et al. (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

external link
24.

Loeys BL et al. (2006) Aneurysm syndromes caused by mutations in the TGF-beta receptor.

external link
25.

Singh KK et al. (2006) TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

external link
26.

Azhar M et al. (2003) Transforming growth factor beta in cardiovascular development and function.

external link
27.

Boileau C et al. (1993) Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes.

external link
28.

Bonyadi M et al. (1996) The TGF beta type II receptor, Tgfbr2, maps to distal mouse chromosome 9.

external link
29.

Chen RH et al. (1993) Inactivation of the type II receptor reveals two receptor pathways for the diverse TGF-beta activities.

external link
30.

Disabella E et al. (2006) Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

external link
31.

Tesseur I et al. (2006) Deficiency in neuronal TGF-beta signaling promotes neurodegeneration and Alzheimer's pathology.

external link
32.

Fakhro KA et al. (2011) Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.

external link
33.

Grady WM et al. (1999) Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers.

external link
34.

Hahm KB et al. (1999) Repression of the gene encoding the TGF-beta type II receptor is a major target of the EWS-FLI1 oncoprotein.

external link
35.

Han G et al. (2005) Distinct mechanisms of TGF-beta1-mediated epithelial-to-mesenchymal transition and metastasis during skin carcinogenesis.

external link
36.

Hasham SN et al. (2003) Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.

external link
37.

Ito Y et al. (2003) Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects.

external link
38.

Kirmani S et al. (2010) Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.

external link
39.

Kosaki K et al. (2006) Molecular pathology of Shprintzen-Goldberg syndrome.

external link
40.

Law C et al. (2006) Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene.

external link
Update: Nov. 3, 2022
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits