TGF-beta-Rezeptor Typ 2
Das TGFBR2-Gen kodiert einen Rezeptor für das TGF-beta. Mutationen führen zum autosomal dominanten Loeys-Dietz-Syndrom 2.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Ozdamar B et al. (2005) Regulation of the polarity protein Par6 by TGFbeta receptors controls epithelial cell plasticity.
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2. |
Li S et al. (2020) Cancer immunotherapy via targeted TGF-β signalling blockade in T cells.
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3. |
Lin HY et al. (1992) Expression cloning of the TGF-beta type II receptor, a functional transmembrane serine/threonine kinase.
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4. |
Liu M et al. (2020) TGF-β suppresses type 2 immunity to cancer.
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5. |
Lu SL et al. (1998) HNPCC associated with germline mutation in the TGF-beta type II receptor gene.
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6. |
Markowitz S et al. (1995) Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability.
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7. |
Mathew S et al. (1994) Transforming growth factor receptor gene TGFBR2 maps to human chromosome band 3p22.
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8. |
Mizuguchi T et al. (2004) Heterozygous TGFBR2 mutations in Marfan syndrome.
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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.
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10. |
Neptune ER et al. (2003) Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome.
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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.
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12. |
Pannu H et al. (2005) Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
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13. |
Parsons R et al. (1995) Microsatellite instability and mutations of the transforming growth factor beta type II receptor gene in colorectal cancer.
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14. |
Sanford LP et al. (1997) TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes.
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15. |
Souza RF et al. (1996) Microsatellite instability in the insulin-like growth factor II receptor gene in gastrointestinal tumours.
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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).
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17. |
Tanaka S et al. (2000) A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma.
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18. |
Tannergård P et al. (1997) Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer.
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19. |
Tooley MJ et al. (2017) Extreme phenotypes of Loeys Dietz syndrome.
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20. |
Watanabe T et al. (2001) Molecular predictors of survival after adjuvant chemotherapy for colon cancer.
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21. |
Eshleman JR et al. (1995) Microsatellite instability in inherited and sporadic neoplasms.
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22. |
De Paepe A et al. (1996) Revised diagnostic criteria for the Marfan syndrome.
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23. |
Loeys BL et al. (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
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24. |
Loeys BL et al. (2006) Aneurysm syndromes caused by mutations in the TGF-beta receptor.
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25. |
Singh KK et al. (2006) TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
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26. |
Azhar M et al. (2003) Transforming growth factor beta in cardiovascular development and function.
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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.
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28. |
Bonyadi M et al. (1996) The TGF beta type II receptor, Tgfbr2, maps to distal mouse chromosome 9.
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29. |
Chen RH et al. (1993) Inactivation of the type II receptor reveals two receptor pathways for the diverse TGF-beta activities.
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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.
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31. |
Tesseur I et al. (2006) Deficiency in neuronal TGF-beta signaling promotes neurodegeneration and Alzheimer's pathology.
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32. |
Fakhro KA et al. (2011) Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.
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33. |
Grady WM et al. (1999) Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers.
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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.
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35. |
Han G et al. (2005) Distinct mechanisms of TGF-beta1-mediated epithelial-to-mesenchymal transition and metastasis during skin carcinogenesis.
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36. |
Hasham SN et al. (2003) Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.
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37. |
Ito Y et al. (2003) Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects.
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38. |
Kirmani S et al. (2010) Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.
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39. |
Kosaki K et al. (2006) Molecular pathology of Shprintzen-Goldberg syndrome.
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40. |
Law C et al. (2006) Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene.
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Update: 3. November 2022