Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis
作者： James R. Howe , Jennifer L. Bair , Mohamed G. Sayed , Mary E. Anderson , Frank A. Mitros
DOI: 10.1038/88919
关键词: BMPR1A 、 PTEN 、 Juvenile polyposis syndrome 、 Biology 、 Bone morphogenetic protein receptor 、 Germline 、 Cancer research 、 Gene mapping 、 Genetics 、 Germline mutation 、 Adenomatous polyposis coli
摘要: … The nonsense mutations reported in these four JP kindreds encode BMP receptors that lack the intracellular serine–threonine kinase domain 8 , and are predicted to result in loss of …
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A A Schäffer, R W Cottingham, R M Idury, Faster sequential genetic linkage computations. American Journal of Human Genetics. ,vol. 53, pp. 252- 263 ,(1993)
Carl-Henrik Heldin, Kohei Miyazono, Peter ten Dijke, TGF-beta signalling from cell membrane to nucleus through SMAD proteins Nature. ,vol. 390, pp. 465- 471 ,(1997) , 10.1038/37284
J Saras, H Ichijo, K Miyazono, P ten Dijke, H Toyoshima, P Schulz, C H Heldin, P Franzén, Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. Oncogene. ,vol. 8, pp. 2879- 2887 ,(1993)
Ian Martin Frayling, Richard Poulsom, Takeo Iwama, Kelly Woodford-Richens, Shirley Hodgson, Barbara Leggett, Joanne Young, Nicholas Wright, Ian Tomlinson, Jill Williamson, Denise Sheer, Richard Houlston, Marco Novelli, Jin Cheon Kim, Yi Thway, Stephen Bevan, Allelic Loss at SMAD4 in Polyps from Juvenile Polyposis Patients and Use of Fluorescence in Situ Hybridization to Demonstrate Clonal Origin of the Epithelium Cancer Research. ,vol. 60, pp. 2477- 2482 ,(2000)
James R. Howe, Frank A. Mitros, Robert W. Summers, The risk of gastrointestinal carcinoma in familial juvenile polyposis Annals of Surgical Oncology. ,vol. 5, pp. 751- 756 ,(1998) , 10.1007/BF02303487
RF Jacoby, S Schlack, CE Cole, M Skarbek, C Harris, LF Meisner, A juvenile polyposis tumor suppressor locus at 10q22 is deleted from nonepithelial cells in the lamina propria Gastroenterology. ,vol. 112, pp. 1398- 1403 ,(1997) , 10.1016/S0016-5085(97)70156-2
Shoji Iwasaki, Nobuo Tsuruoka, Akira Hattori, Masahiro Sato, Masafumi Tsujimoto, Michiaki Kohno, Distribution and Characterization of Specific Cellular Binding Proteins for Bone Morphogenetic Protein-2 Journal of Biological Chemistry. ,vol. 270, pp. 5476- 5482 ,(1995) , 10.1074/JBC.270.10.5476
Giorgio Lagna, Akiko Hata, Ali Hemmati-Brivanlou, Joan Massagué, Partnership between DPC4 and SMAD proteins in TGF-beta signalling pathways. Nature. ,vol. 383, pp. 832- 836 ,(1996) , 10.1038/383832A0
M Kretzschmar, F Liu, A Hata, J Doody, J Massague, The TGF-beta family mediator Smad1 is phosphorylated directly and activated functionally by the BMP receptor kinase. Genes & Development. ,vol. 11, pp. 984- 995 ,(1997) , 10.1101/GAD.11.8.984
Jennifer Wambach, John Barnard, SMAD4 germline mutations in juvenile polyposis coli. Journal of Pediatric Gastroenterology and Nutrition. ,vol. 28, pp. 538- 539 ,(1999) , 10.1097/00005176-199905000-00020