[1]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1016/0092-8674(93)90489-D; PubMed=8242743 [NCBI, ExPASy, EBI, Israel, Japan]
Franzen P.,
ten Dijke P.,
Ichijo H.,
Yamashita H.,
Schulz P.,
Heldin C.-H.,
Miyazono K.;
"Cloning of a TGF beta type I receptor that forms a heteromeric complex with the TGF beta type II receptor.";
Cell 75:681-692(1993).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1006/geno.1997.5023; PubMed=9417915 [NCBI, ExPASy, EBI, Israel, Japan]
Vellucci V.F.,
Reiss M.;
"Cloning and genomic organization of the human transforming growth factor-beta type I receptor gene.";
Genomics 46:278-283(1997).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Lynch M.A.,
Song H.,
DeGroff V.L.,
Alam K.Y.,
Adams E.M.,
Weghorst C.M.;
"The genomic structure of the gene encoding the human transforming growth factor beta type I receptor.";
Submitted (NOV-1997) to the EMBL/GenBank/DDBJ databases.
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Livingston R.J.,
Rieder M.J.,
Chung M.-W.,
Ritchie T.K.,
Olson A.N.,
Nguyen C.P.,
Nguyen D.A.,
Poel C.L.,
Robertson P.D.,
Schackwitz W.S.,
Sherwood J.K.,
Sherwood A.M.,
Leithauser B.J.,
Nickerson D.A.;
"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
Submitted (DEC-2003) to the EMBL/GenBank/DDBJ databases.
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[5]
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FUNCTION, PHOSPHORYLATION AT THR-185; THR-186; SER-187; SER-189 AND SER-191, SUBCELLULAR LOCATION, SUBUNIT, AND MUTAGENESIS OF 185-THR-THR-186; SER-187; SER-189; SER-191; THR-200 AND THR-204.
PubMed=7774578 [NCBI, ExPASy, EBI, Israel, Japan]
Wieser R.,
Wrana J.L.,
Massague J.;
"GS domain mutations that constitutively activate T beta R-I, the downstream signaling component in the TGF-beta receptor complex.";
EMBO J. 14:2199-2208(1995).
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[6]
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INTERACTION WITH CD109.
DOI=10.1096/fj.05-5229fje; PubMed=16754747 [NCBI, ExPASy, EBI, Israel, Japan]
Finnson K.W.,
Tam B.Y.Y.,
Liu K.,
Marcoux A.,
Lepage P.,
Roy S.,
Bizet A.A.,
Philip A.;
"Identification of CD109 as part of the TGF-beta receptor system in human keratinocytes.";
FASEB J. 20:1525-1527(2006).
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[7]
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3D-STRUCTURE MODELING OF 34-114.
DOI=10.1016/0014-5793(95)01239-7; PubMed=8521960 [NCBI, ExPASy, EBI, Israel, Japan]
Jokiranta T.S.,
Tissari J.,
Teleman O.,
Meri S.;
"Extracellular domain of type I receptor for transforming growth factor-beta: molecular modelling using protectin (CD59) as a template.";
FEBS Lett. 376:31-36(1995).
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[8]
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X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 162-503 IN COMPLEX WITH FKBP1A.
DOI=10.1016/S0092-8674(00)80555-3; PubMed=10025408 [NCBI, ExPASy, EBI, Israel, Japan]
Huse M.,
Chen Y.-G.,
Massague J.,
Kuriyan J.;
"Crystal structure of the cytoplasmic domain of the type I TGF beta receptor in complex with FKBP12.";
Cell 96:425-436(1999).
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[9]
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X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS) OF 162-503, PHOSPHORYLATION, AND INTERACTION WITH SMAD2 AND FKBP1A.
DOI=10.1016/S1097-2765(01)00332-X; PubMed=11583628 [NCBI, ExPASy, EBI, Israel, Japan]
Huse M.,
Muir T.W.,
Xu L.,
Chen Y.-G.,
Kuriyan J.,
Massague J.;
"The TGF beta receptor activation process: an inhibitor- to substrate-binding switch.";
Mol. Cell 8:671-682(2001).
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[10]
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X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 175-500 IN COMPLEX WITH SYNTHETIC INHIBITOR.
DOI=10.1016/j.bmcl.2004.04.007; PubMed=15177479 [NCBI, ExPASy, EBI, Israel, Japan]
Sawyer J.S.,
Beight D.W.,
Britt K.S.,
Anderson B.D.,
Campbell R.M.,
Goodson T. Jr.,
Herron D.K.,
Li H.-Y.,
McMillen W.T.,
Mort N.,
Parsons S.,
Smith E.C.R.,
Wagner J.R.,
Yan L.,
Zhang F.,
Yingling J.M.;
"Synthesis and activity of new aryl- and heteroaryl-substituted 5,6-dihydro-4H-pyrrolo[1,2-b]pyrazole inhibitors of the transforming growth factor-beta type I receptor kinase domain.";
Bioorg. Med. Chem. Lett. 14:3581-3584(2004).
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[11]
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X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 201-503 IN COMPLEX WITH SYNTHETIC INHIBITOR.
DOI=10.1021/jm0400247; PubMed=15317461 [NCBI, ExPASy, EBI, Israel, Japan]
Gellibert F.,
Woolven J.,
Fouchet M.-H.,
Mathews N.,
Goodland H.,
Lovegrove V.,
Laroze A.,
Nguyen V.-L.,
Sautet S.,
Wang R.,
Janson C.,
Smith W.,
Krysa G.,
Boullay V.,
De Gouville A.-C.,
Huet S.,
Hartley D.;
"Identification of 1,5-naphthyridine derivatives as a novel series of potent and selective TGF-beta type I receptor inhibitors.";
J. Med. Chem. 47:4494-4506(2004).
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[12]
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VARIANT TGFBR1*6A ALA-24--26-ALA DEL, AND VARIANT TGFBR1*10A ALA-26 INS.
PubMed=9661882 [NCBI, ExPASy, EBI, Israel, Japan]
Pasche B.,
Luo Y.,
Rao P.H.,
Nimer S.D.,
Dmitrovsky E.,
Caron P.,
Luzzatto L.,
Offit K.,
Cordon-Cardo C.,
Renault B.,
Satagopan J.M.,
Murty V.V.V.S.,
Massague J.;
"Type I transforming growth factor beta receptor maps to 9q22 and exhibits a polymorphism and a rare variant within a polyalanine tract.";
Cancer Res. 58:2727-2732(1998).
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[13]
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ANALYSIS OF VARIANT TGFBR1*6A ALA-24--26-ALA DEL IN CANCER RISK.
DOI=10.1200/JCO.2003.11.524; PubMed=12947057 [NCBI, ExPASy, EBI, Israel, Japan]
Kaklamani V.G.,
Hou N.,
Bian Y.,
Reich J.,
Offit K.,
Michel L.S.,
Rubinstein W.S.,
Rademaker A.,
Pasche B.;
"TGFBR1*6A and cancer risk: a meta-analysis of seven case-control studies.";
J. Clin. Oncol. 21:3236-3243(2003).
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[14]
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ANALYSIS OF VARIANT TGFBR1*6A ALA-24--26-ALA DEL IN PROSTATE CANCER.
DOI=10.1186/1471-2156-5-28; PubMed=15385056 [NCBI, ExPASy, EBI, Israel, Japan]
Kaklamani V.G.,
Baddi L.,
Rosman D.,
Liu J.,
Ellis N.,
Oddoux C.,
Ostrer H.,
Chen Y.,
Ahsan H.,
Offit K.,
Pasche B.;
"No major association between TGFBR1*6A and prostate cancer.";
BMC Genet. 5:28-28(2004).
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[15]
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VARIANTS LDS1A ILE-200; ARG-318; GLY-400 AND PRO-487.
DOI=10.1038/ng1511; PubMed=15731757 [NCBI, ExPASy, EBI, Israel, Japan]
Loeys B.L.,
Chen J.,
Neptune E.R.,
Judge D.P.,
Podowski M.,
Holm T.,
Meyers J.,
Leitch C.C.,
Katsanis N.,
Sharifi N.,
Xu F.L.,
Myers L.A.,
Spevak P.J.,
Cameron D.E.,
De Backer J.F.,
Hellemans J.,
Chen Y.,
Davis E.C.,
Webb C.L., ![]()
Kress W.,
Coucke P.J.,
Rifkin D.B.,
De Paepe A.M.,
Dietz H.C.;
"A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.";
Nat. Genet. 37:275-281(2005).
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[16]
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ANALYSIS OF VARIANT TGFBR1*6A ALA-24--26-ALA DEL IN PROSTATE CANCER.
DOI=10.1038/sj.pcan.4500765; PubMed=15505640 [NCBI, ExPASy, EBI, Israel, Japan]
Suarez B.K.,
Pal P.,
Jin C.H.,
Kaushal R.,
Sun G.,
Jin L.,
Pasche B.,
Deka R.,
Catalona W.J.;
"TGFBR1(*)6A is not associated with prostate cancer in men of European ancestry.";
Prostate Cancer Prostatic Dis. 8:50-53(2005).
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[17]
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VARIANT LDS1A LEU-241.
DOI=10.1002/ajmg.a.31202; PubMed=16596670 [NCBI, ExPASy, EBI, Israel, Japan]
Ades L.C.,
Sullivan K.,
Biggin A.,
Haan E.A.,
Brett M.,
Holman K.J.,
Dixon J.,
Robertson S.,
Holmes A.D.,
Rogers J.,
Bennetts B.;
"FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.";
Am. J. Med. Genet. A 140:1047-1058(2006).
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[18]
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VARIANT LDS1A LEU-241, VARIANT AAT5 GLN-487, AND VARIANT HIS-267.
DOI=10.1002/humu.20353; PubMed=16791849 [NCBI, ExPASy, EBI, Israel, Japan]
Matyas G.,
Arnold E.,
Carrel T.,
Baumgartner D.,
Boileau C.,
Berger W.,
Steinmann B.;
"Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.";
Hum. Mutat. 27:760-769(2006).
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[19]
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VARIANTS LDS2A GLU-232; TRP-487; PRO-487 AND GLN-487.
DOI=10.1056/NEJMoa055695; PubMed=16928994 [NCBI, ExPASy, EBI, Israel, Japan]
Loeys B.L.,
Schwarze U.,
Holm T.,
Callewaert B.L.,
Thomas G.H.,
Pannu H.,
De Backer J.F.,
Oswald G.L.,
Symoens S.,
Manouvrier S.,
Roberts A.E.,
Faravelli F.,
Greco M.A.,
Pyeritz R.E.,
Milewicz D.M.,
Coucke P.J.,
Cameron D.E.,
Braverman A.C.,
Byers P.H., ![]()
De Paepe A.M.,
Dietz H.C.;
"Aneurysm syndromes caused by mutations in the TGF-beta receptor.";
N. Engl. J. Med. 355:788-798(2006).
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[20]
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VARIANTS [LARGE SCALE ANALYSIS] ILE-153 AND CYS-291.
DOI=10.1038/nature05610; PubMed=17344846 [NCBI, ExPASy, EBI, Israel, Japan]
Greenman C.,
Stephens P.,
Smith R.,
Dalgliesh G.L.,
Hunter C.,
Bignell G.,
Davies H.,
Teague J.,
Butler A.,
Stevens C.,
Edkins S.,
O'Meara S.,
Vastrik I.,
Schmidt E.E.,
Avis T.,
Barthorpe S.,
Bhamra G.,
Buck G.,
Choudhury B., ![]()
Clements J.,
Cole J.,
Dicks E.,
Forbes S.,
Gray K.,
Halliday K.,
Harrison R.,
Hills K.,
Hinton J.,
Jenkinson A.,
Jones D.,
Menzies A.,
Mironenko T.,
Perry J.,
Raine K.,
Richardson D.,
Shepherd R.,
Small A.,
Tofts C.,
Varian J.,
Webb T.,
West S.,
Widaa S.,
Yates A.,
Cahill D.P.,
Louis D.N.,
Goldstraw P.,
Nicholson A.G.,
Brasseur F.,
Looijenga L.,
Weber B.L.,
Chiew Y.-E.,
DeFazio A.,
Greaves M.F.,
Green A.R.,
Campbell P.,
Birney E.,
Easton D.F.,
Chenevix-Trench G.,
Tan M.-H.,
Khoo S.K.,
Teh B.T.,
Yuen S.T.,
Leung S.Y.,
Wooster R.,
Futreal P.A.,
Stratton M.R.;
"Patterns of somatic mutation in human cancer genomes.";
Nature 446:153-158(2007).
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