TGF-beta-Rezeptor Typ 1

Larsson J et al. (2001) Abnormal angiogenesis but intact hematopoietic potential in TGF-beta type I receptor-deficient mice.

Wang T et al. (1994) Specific interaction of type I receptors of the TGF-beta family with the immunophilin FKBP-12.

Vellucci VF et al. (1997) Cloning and genomic organization of the human transforming growth factor-beta type I receptor gene.

Bakker SJ et al. (1996) Abnormal glomerular basement membrane in idiopathic multicentric osteolysis.

Tran-Fadulu V et al. (2009) Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

Singh KK et al. (2006) TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

Pasche B et al. (1998) Type I transforming growth factor beta receptor maps to 9q22 and exhibits a polymorphism and a rare variant within a polyalanine tract.

Nicod P et al. (1989) Familial aortic dissecting aneurysm.

Mátyás G et al. (2006) Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

Loeys BL et al. (2006) Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Loeys BL et al. (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

Adès LC et al. (2006) FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

Kuan J et al. (1998) Tgfbr1 maps to chromosome 4.

Johnson DW et al. (1995) Assignment of human transforming growth factor-beta type I and type III receptor genes (TGFBR1 and TGFBR3) to 9q33-q34 and 1p32-p33, respectively.

Inman GJ et al. (2002) Nucleocytoplasmic shuttling of Smads 2, 3, and 4 permits sensing of TGF-beta receptor activity.

Goudie DR et al. (1993) Multiple self-healing squamous epitheliomata (ESS1) mapped to chromosome 9q22-q31 in families with common ancestry.

Goudie DR et al. (2011) Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.

Franzén P et al. (1993) Cloning of a TGF beta type I receptor that forms a heteromeric complex with the TGF beta type II receptor.

Ebner R et al. (1993) Cloning of a type I TGF-beta receptor and its effect on TGF-beta binding to the type II receptor.

Drera B et al. (2008) Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype.

De Paepe A et al. (1996) Revised diagnostic criteria for the Marfan syndrome.

Barrios-Rodiles M et al. (2005) High-throughput mapping of a dynamic signaling network in mammalian cells.