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Mutations in either TGFBR1 or TGFBR2 predispose patients to aggressive and widespread vascular disease.
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations In Marfan syndrome and related disorders.
Diagnosis is confirmed by detection of mutations in TGFBR1 and TGFBR2.
41) The MFS phenotype can be caused by mutations in both FBN1 and TGFBR2 (type II transforming growth factor beta receptor).
Genetic sequencing showed that no known mutation of cardiomyopathy was detected, but he had three mutant heterozygotes in TGFBR2 , SMAD9 , TRPM4 gene which did not find a link with this disease.
Some of the mutated genes that have been identified in pancreatic cancer and have been added to clinical testing panels include MLL3, TGFBR2, ARID1A, SF3B1, ATM, and ARID2.
By this analysis, SureSelect had 7 genes [SDHD, TGFBR2 (transforming growth factor, 3 receptor II [70/80 kDa]), GLA (galactosidase, a), SDHC(succinate dehydrogenase complex, subunit C, integral membrane protein, 15 kDa), COL3A1 (collagen, type III, a1), PMS2, PSCK9] for which >50% of HGMD variant locations had inadequate coverage.
From Table 3, in addition to TGF-131, the genes belong to TGF beta receptors, ACVR1B and TGFBR2, and co-activators, CREBBP, were up-regulated in NF3 treated fibroblast Hs27 cells.
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- TGF-beta/activin signal transducer
- TGFB inducible early growth response
- TGFB-inducible early growth response 2
- TGFB-inducible early growth response protein 1
- TGFB-inducible early growth response protein 2
- TGFbeta Activated Kinase 1