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TGFBR2Transforming Growth Factor-Beta Receptor, Type II
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In order to investigate the relevance of the hub genes and NS, the expression levels of PIK3CA, TGFBR2, CDKN1B, KRAS, E2F3, TRAF6, and CHUK were further analyzed.
Yamauchi et al., "TGFBR2 and BAX mononucleotide tract mutations, microsatellite instability, and prognosis in 1072 colorectal cancers," PLoS ONE, vol.
Serra, "Deletion of Tgfbr2 in Prx1-cre expressing mesenchyme results in defects in development of the long bones and joints," Developmental Biology, vol.
Tang et al., "Polymorphisms of TGF[beta]-1 and TGFBR2 in relation to coronary artery disease in a Chinese population," Clinical Biochemistry, vol.
Genetics testing of the following genes was performed, though no pathogenic mutations or clinically significant variants were detected: ACTA2, CBS, COL3A1, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1 and TGFBR2. The patient was found to be heterozygous for the c.3651+5_+lldel7insG variant of the MYH11 gene, though was of unknown significance.
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity – Application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2. Hum Mutat 2009;30:952-9.
Among them, at least 4 primary-metastasis pairs from different patients demonstrated a microsatellite instability (MSI) phenotype with high mutation rates (7-48 mutations per Mb) and harbored functional somatic mutations in transforming growth factor, beta receptor II (70/80kDa) (TGFBR2) and BRAF which are suggestive of MSI or germline deleterious mutations in the mismatch-repairing genes mutS homolog 2 (MSH2) and mutS homolog 6 (MSH6) (18, 19) (not shown).
Mutations in either the TGFBR1 or TGFBR2 genes can cause LDS types I and II.
The relationships of EPOR (erythropoietin receptor), MAPK14 (mitogen-activated protein kinase 1), BCL2L1 (BCL2-like1), KRT18 (keratin 18), PTPN6 (protein tyrosine phosphatase nonreceptor 6), CASP3 (caspase-3), TGFBR2 (transforming growth factor-beta, TGF[beta], type II receptor), AR (adrenergic receptor), and CASP7 (caspase-7) with gastric cancer were already known.
Gene ontology: biological Genes p-Value process terms Cell cycle CCNB1, CCNB2, MNAT1, CDC2, 2.7 E-14 CDKN 1 A, CDKN3, CDKN2A, ANAPC1, CDK10 Cellular metabolism KRT15, KIF1B, ZNF697, 4.3E-13 PRG2, P2RY2,IMMP2L Growth factor and growth BMP-2, TCF[beta]1, VEGF, 1.2E-11 factor receptor activity BMP8B, CSF1, FCFR1, BMPR2, 1GF2R, PDCFB, TGFBR2, NRP1, CCR2 Biosynthetic process CEL, COL11A2, ACPP, MMP14, 1.8E-9 CACNB1, ALPL, CDH1, ITGA3, SERPINB10, TAF4B, ABCB10, IRF8 Cell proliferation ATF3, MK167, S100A6, FTH1, DHCR7 2.1E-8 Signal transduction MAP2K3, MAPK14, MAP3K10, BAMBI, NDRG2, ECM1, SMAD7 5.5E-7 Apoptosis MYC, P53AIP1, ZBTB16, BBC3, 1.3E-5 VHL, CASP3, APITD1 Table 5 KEGG pathway analysis.
The genetic studies revealed no mutations in ACTA2, TGFBR1, TGFBR2, TGFB2, MYH11, MYLK, SMAD3, or FBN1.
And TGFBR2 plays roles in both the vascular and pain pathways, according to the neurologist.