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.
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
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
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