[1]
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NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT THR-2.
TISSUE=Placenta;
PubMed=8397373 [NCBI, ExPASy, EBI, Israel, Japan]
ten Dijke P.,
Ichijo H.,
Franzen P.,
Schulz P.,
Saras J.,
Toyoshima H.,
Heldin C.-H.,
Miyazono K.;
"Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity.";
Oncogene 8:2879-2887(1993).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Testis;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[3]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-215; SER-216; SER-218 AND SER-220, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1016/j.cell.2006.09.026; PubMed=17081983 [NCBI, ExPASy, EBI, Israel, Japan]
Olsen J.V.,
Blagoev B.,
Gnad F.,
Macek B.,
Kumar C.,
Mortensen P.,
Mann M.;
"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.";
Cell 127:635-648(2006).
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[4]
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X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS) OF 55-143 IN COMPLEX WITH BMP-2.
DOI=10.1038/75903; PubMed=10881198 [NCBI, ExPASy, EBI, Israel, Japan]
Kirsch T.,
Sebald W.,
Dreyer M.K.;
"Crystal structure of the BMP-2-BRIA ectodomain complex.";
Nat. Struct. Biol. 7:492-496(2000).
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[5]
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DISEASE.
DOI=10.1038/88919; PubMed=11381269 [NCBI, ExPASy, EBI, Israel, Japan]
Howe J.R.,
Bair J.L.,
Sayed M.G.,
Anderson M.E.,
Mitros F.A.,
Petersen G.M.,
Velculescu V.E.,
Traverso G.,
Vogelstein B.;
"Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.";
Nat. Genet. 28:184-187(2001).
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[6]
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VARIANTS JPS ARG-124 AND TYR-376, AND VARIANT CD ASP-338.
DOI=10.1086/323703; PubMed=11536076 [NCBI, ExPASy, EBI, Israel, Japan]
Zhou X.-P.,
Woodford-Richens K.,
Lehtonen R.,
Kurose K.,
Aldred M.,
Hampel H.,
Launonen V.,
Virta S.,
Pilarski R.,
Salovaara R.,
Bodmer W.F.,
Conrad B.A.,
Dunlop M.,
Hodgson S.V.,
Iwama T.,
Jaervinen H.,
Kellokumpu I.,
Kim J.C.,
Leggett B., ![]()
Markie D.,
Mecklin J.-P.,
Neale K.,
Phillips R.,
Piris J.,
Rozen P.,
Houlston R.S.,
Aaltonen L.A.,
Tomlinson I.P.M.,
Eng C.;
"Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.";
Am. J. Hum. Genet. 69:704-711(2001).
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[7]
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VARIANTS JPS ASP-62; TYR-82 AND CYS-443.
PubMed=12417513 [NCBI, ExPASy, EBI, Israel, Japan]
Sayed M.G.,
Ahmed A.F.,
Ringold J.R.,
Anderson M.E.,
Bair J.L.,
Mitros F.A.,
Lynch H.T.,
Tinley S.T.,
Petersen G.M.,
Giardiello F.M.,
Vogelstein B.,
Howe J.R.;
"Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.";
Ann. Surg. Oncol. 9:901-906(2002).
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[8]
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VARIANT JPS ARG-130.
DOI=10.1007/s00439-002-0748-9; PubMed=12136244 [NCBI, ExPASy, EBI, Israel, Japan]
Friedl W.,
Uhlhaas S.,
Schulmann K.,
Stolte M.,
Loff S.,
Back W.,
Mangold E.,
Stern M.,
Knaebel H.P.,
Sutter C.,
Weber R.G.,
Pistorius S.,
Burger B.,
Propping P.;
"Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.";
Hum. Genet. 111:108-111(2002).
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[9]
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VARIANT JPS THR-470.
DOI=10.1034/j.1399-0004.2003.00008.x; PubMed=12630959 [NCBI, ExPASy, EBI, Israel, Japan]
Kim I.J.,
Park J.H.,
Kang H.C.,
Kim K.H.,
Kim J.H.,
Ku J.L.,
Kang S.B.,
Park S.Y.,
Lee J.S.,
Park J.G.;
"Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation.";
Clin. Genet. 63:126-130(2003).
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[10]
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INVOLVEMENT IN HEREDITARY MIXED POLYPOSIS SYNDROME 2.
DOI=10.1136/jmg.2005.034827; PubMed=16525031 [NCBI, ExPASy, EBI, Israel, Japan]
Cao X.,
Eu K.W.,
Kumarasinghe M.P.,
Li H.H.,
Loi C.,
Cheah P.Y.;
"Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function.";
J. Med. Genet. 43:E13-E13(2006).
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[11]
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VARIANTS [LARGE SCALE ANALYSIS] THR-2; TYR-58; CYS-443; MET-450 AND GLN-486.
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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