[1]
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NUCLEOTIDE SEQUENCE [MRNA], AND PROTEIN SEQUENCE OF 19-43.
PubMed=2820710 [NCBI, ExPASy, EBI, Israel, Japan]
Suzuki K.,
Kusumoto H.,
Deyashiki Y.,
Nishioka J.,
Maruyama I.,
Zushi M.,
Kawahara S.,
Honda G.,
Yamamoto S.,
Horiguchi S.;
"Structure and expression of human thrombomodulin, a thrombin receptor on endothelium acting as a cofactor for protein C activation.";
EMBO J. 6:1891-1897(1987).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA], AND PARTIAL PROTEIN SEQUENCE.
DOI=10.1021/bi00388a025; PubMed=2822087 [NCBI, ExPASy, EBI, Israel, Japan]
Wen D.,
Dittman W.A.,
Ye R.D.,
Deaven L.L.,
Majerus P.W.,
Sadler J.E.;
"Human thrombomodulin: complete cDNA sequence and chromosome localization of the gene.";
Biochemistry 26:4350-4357(1987).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=2819876 [NCBI, ExPASy, EBI, Israel, Japan]
Jackman R.W.,
Beeler D.L.,
Fritze L.,
Soff G.,
Rosenberg R.D.;
"Human thrombomodulin gene is intron depleted: nucleic acid sequences of the cDNA and gene predict protein structure and suggest sites of regulatory control.";
Proc. Natl. Acad. Sci. U.S.A. 84:6425-6429(1987).
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=2836377 [NCBI, ExPASy, EBI, Israel, Japan]
Shirai T.,
Shiojiri S.,
Ito H.,
Yamamoto S.,
Kusumoto H.,
Deyashiki Y.,
Maruyama I.,
Suzuki K.;
"Gene structure of human thrombomodulin, a cofactor for thrombin-catalyzed activation of protein C.";
J. Biochem. 103:281-285(1988).
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[5]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT VAL-473.
SeattleSNPs program for genomic applications;
Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases.
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/414865a; PubMed=11780052 [NCBI, ExPASy, EBI, Israel, Japan]
Deloukas P.,
Matthews L.H.,
Ashurst J.L.,
Burton J.,
Gilbert J.G.R.,
Jones M.,
Stavrides G.,
Almeida J.P.,
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Barlow K.F.,
Bates K.N.,
Beard L.M.,
Beare D.M.,
Beasley O.P.,
Bird C.P.,
Blakey S.E.,
Bridgeman A.M.,
Brown A.J.,
Buck D.,
Burrill W.D.,
Butler A.P.,
Carder C.,
Carter N.P.,
Chapman J.C.,
Clamp M.,
Clark G.,
Clark L.N.,
Clark S.Y.,
Clee C.M.,
Clegg S.,
Cobley V.E.,
Collier R.E.,
Connor R.E.,
Corby N.R.,
Coulson A.,
Coville G.J.,
Deadman R.,
Dhami P.D.,
Dunn M.,
Ellington A.G.,
Frankland J.A.,
Fraser A.,
French L.,
Garner P.,
Grafham D.V.,
Griffiths C.,
Griffiths M.N.D.,
Gwilliam R.,
Hall R.E.,
Hammond S.,
Harley J.L.,
Heath P.D.,
Ho S.,
Holden J.L.,
Howden P.J.,
Huckle E.,
Hunt A.R.,
Hunt S.E.,
Jekosch K.,
Johnson C.M.,
Johnson D.,
Kay M.P.,
Kimberley A.M.,
King A.,
Knights A.,
Laird G.K.,
Lawlor S.,
Lehvaeslaiho M.H.,
Leversha M.A.,
Lloyd C.,
Lloyd D.M.,
Lovell J.D.,
Marsh V.L.,
Martin S.L.,
McConnachie L.J.,
McLay K.,
McMurray A.A.,
Milne S.A.,
Mistry D.,
Moore M.J.F.,
Mullikin J.C.,
Nickerson T.,
Oliver K.,
Parker A.,
Patel R.,
Pearce T.A.V.,
Peck A.I.,
Phillimore B.J.C.T.,
Prathalingam S.R.,
Plumb R.W.,
Ramsay H.,
Rice C.M.,
Ross M.T.,
Scott C.E.,
Sehra H.K.,
Shownkeen R.,
Sims S.,
Skuce C.D.,
Smith M.L.,
Soderlund C.,
Steward C.A.,
Sulston J.E.,
Swann R.M.,
Sycamore N.,
Taylor R.,
Tee L.,
Thomas D.W.,
Thorpe A.,
Tracey A.,
Tromans A.C.,
Vaudin M.,
Wall M.,
Wallis J.M.,
Whitehead S.L.,
Whittaker P.,
Willey D.L.,
Williams L.,
Williams S.A.,
Wilming L.,
Wray P.W.,
Hubbard T.,
Durbin R.M.,
Bentley D.R.,
Beck S.,
Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 20.";
Nature 414:865-871(2001).
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[7]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-473.
TISSUE=Brain, and Lung;
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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[8]
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GLYCOSYLATION AT SER-492, AND MUTAGENESIS.
PubMed=8216207 [NCBI, ExPASy, EBI, Israel, Japan]
Gerlitz B.,
Hassell T.,
Vlahos C.J.,
Parkinson J.F.,
Bang N.U.,
Grinnell B.W.;
"Identification of the predominant glycosaminoglycan-attachment site in soluble recombinant human thrombomodulin: potential regulation of functionality by glycosyltransferase competition for serine 474.";
Biochem. J. 295:131-140(1993).
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[9]
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HYDROXYLATION AT ASN-342.
PubMed=8390446 [NCBI, ExPASy, EBI, Israel, Japan]
Yamamoto S.,
Mizoguchi T.,
Tamaki T.,
Ohkuchi M.,
Kimura S.,
Aoki N.;
"Urinary thrombomodulin, its isolation and characterization.";
J. Biochem. 113:433-440(1993).
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[10]
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STRUCTURE BY NMR OF 389-407.
DOI=10.1074/jbc.270.40.23366; PubMed=7559494 [NCBI, ExPASy, EBI, Israel, Japan]
Adler M.,
Seto M.H.,
Nitecki D.E.,
Lin J.H.,
Light D.R.,
Morser J.;
"The structure of a 19-residue fragment from the C-loop of the fourth epidermal growth factor-like domain of thrombomodulin.";
J. Biol. Chem. 270:23366-23372(1995).
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[11]
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STRUCTURE BY NMR OF 364-407.
PubMed=8528067 [NCBI, ExPASy, EBI, Israel, Japan]
Meininger D.P.,
Hunter M.J.,
Komives E.A.;
"Synthesis, activity, and preliminary structure of the fourth EGF-like domain of thrombomodulin.";
Protein Sci. 4:1683-1695(1995).
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[12]
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STRUCTURE BY NMR OF 427-444.
DOI=10.1021/bi00250a007; PubMed=7947766 [NCBI, ExPASy, EBI, Israel, Japan]
Srinivasan J.,
Hu S.,
Hrabal R.,
Zhu Y.,
Komives E.A.,
Ni F.;
"Thrombin-bound structure of an EGF subdomain from human thrombomodulin determined by transferred nuclear Overhauser effects.";
Biochemistry 33:13553-13560(1994).
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[13]
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STRUCTURE BY NMR OF 427-444.
PubMed=8745396 [NCBI, ExPASy, EBI, Israel, Japan]
Hrabal R.,
Komives E.A.,
Ni F.;
"Structural resiliency of an EGF-like subdomain bound to its target protein, thrombin.";
Protein Sci. 5:195-203(1996).
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[14]
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STRUCTURE BY NMR OF 405-444.
DOI=10.1006/jmbi.1997.1356; PubMed=9367781 [NCBI, ExPASy, EBI, Israel, Japan]
Sampoli Benitez B.A.,
Hunter M.J.,
Meininger D.P.,
Komives E.A.;
"Structure of the fifth EGF-like domain of thrombomodulin: an EGF-like domain with a novel disulfide-bonding pattern.";
J. Mol. Biol. 273:913-926(1997).
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[15]
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VARIANT TED TYR-486.
PubMed=7811989 [NCBI, ExPASy, EBI, Israel, Japan]
Oehlin A.-K.,
Marlar R.A.;
"The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease.";
Blood 85:330-336(1995).
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[16]
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VARIANT TED TYR-486, AND VARIANTS THR-43; ALA-79; SER-495 AND LEU-501.
PubMed=9198186 [NCBI, ExPASy, EBI, Israel, Japan]
Oehlin A.-K.,
Norlund L.,
Marlar R.A.;
"Thrombomodulin gene variations and thromboembolic disease.";
Thromb. Haemost. 78:396-400(1997).
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[17]
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VARIANT VAL-473.
PubMed=9157575 [NCBI, ExPASy, EBI, Israel, Japan]
Norlund L.,
Holm J.,
Zoller B.,
Oehlin A.-K.;
"A common thrombomodulin amino acid dimorphism is associated with myocardial infarction.";
Thromb. Haemost. 77:248-251(1997).
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[18]
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VARIANT THR-43.
PubMed=9843165 [NCBI, ExPASy, EBI, Israel, Japan]
Doggen C.J.M.,
Kunz G.,
Rosendaal F.R.,
Lane D.A.,
Vos H.L.,
Stubbs P.J.,
Manger Cats V.,
Ireland H.;
"A mutation in the thrombomodulin gene, 127G to A coding for Ala25Thr, and the risk of myocardial infarction in men.";
Thromb. Haemost. 80:743-748(1998).
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[19]
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VARIANT VAL-473.
PubMed=11245641 [NCBI, ExPASy, EBI, Israel, Japan]
Wu K.K.,
Aleksic N.,
Ahn C.,
Boerwinkle E.,
Folsom A.R.,
Juneja H.;
"Thrombomodulin Ala455Val polymorphism and risk of coronary heart disease.";
Circulation 103:1386-1389(2001).
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[20]
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VARIANT TED TYR-486, AND VARIANT VAL-473.
DOI=10.1046/j.1365-2141.2002.03644.x; PubMed=12139752 [NCBI, ExPASy, EBI, Israel, Japan]
Faioni E.M.,
Franchi F.,
Castaman G.,
Biguzzi E.,
Rodeghiero F.;
"Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia.";
Br. J. Haematol. 118:595-599(2002).
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