TGFβR1 is a transmembrane serine/threonine protein kinase and a member of the TGFβ receptor subfamily. TGFβ regulates cell cycle progression by a unique signaling mechanism that involves its binding to TGFβR2 and activation of TGFβR1. TGFβR1 may be inactivated in many of the cases of human tumor cells refractory to TGFβ-mediated cell cycle arrest. Heterozygous mutations in TGFβR1 and TGFβR2 have been reported in Loeys-Dietz aortic aneurysm syndrome (LDS) and also dominant TGFβR2 mutations have been identified in Marfan syndrome type 2 (MFS2) and familial thoracic aortic aneurysms and dissections (TAAD). Mutations of TGFβR1 and TGFβR2 are associated with atherosclerosis and several human cancers.
Prostate cancer and prostatic diseases, 8(1), 50-53 (2004-10-27)
The TGFBR1*6A (*6A) variant in exon 1 of the TGFBR1 gene has been postulated as a putative tumor susceptibility allele in several studies. We have performed a case-control study in 537 men with histologically verified prostate cancer and in 488
Very recently, heterozygous mutations in the genes encoding transforming growth factor beta receptors I (TGFBR1) and II (TGFBR2) have been reported in Loeys-Dietz aortic aneurysm syndrome (LDS). In addition, dominant TGFBR2 mutations have been identified in Marfan syndrome type 2
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