[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
DOI=10.1021/bi00357a018; PubMed=3636155 [NCBI, ExPASy, EBI, Israel, Japan]
Fujikawa K.,
Chung D.W.,
Hendrickson L.E.,
Davie E.W.;
"Amino acid sequence of human factor XI, a blood coagulation factor with four tandem repeats that are highly homologous with plasma prekallikrein.";
Biochemistry 25:2417-2424(1986).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
DOI=10.1021/bi00397a004; PubMed=2827746 [NCBI, ExPASy, EBI, Israel, Japan]
Asakai R.,
Davie E.W.,
Chung D.W.;
"Organization of the gene for human factor XI.";
Biochemistry 26:7221-7228(1987).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
DOI=10.1074/jbc.273.22.13787; PubMed=9593722 [NCBI, ExPASy, EBI, Israel, Japan]
Hsu T.-C.,
Shore S.K.,
Seshsmma T.,
Bagasra O.,
Walsh P.N.;
"Molecular cloning of platelet factor XI, an alternative splicing product of the plasma factor XI gene.";
J. Biol. Chem. 273:13787-13793(1998).
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT PHE-339.
SeattleSNPs variation discovery resource;
Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases.
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature03466; PubMed=15815621 [NCBI, ExPASy, EBI, Israel, Japan]
Hillier L.W.,
Graves T.A.,
Fulton R.S.,
Fulton L.A.,
Pepin K.H.,
Minx P.,
Wagner-McPherson C.,
Layman D.,
Wylie K.,
Sekhon M.,
Becker M.C.,
Fewell G.A.,
Delehaunty K.D.,
Miner T.L.,
Nash W.E.,
Kremitzki C.,
Oddy L.,
Du H.,
Sun H., ![]()
Bradshaw-Cordum H.,
Ali J.,
Carter J.,
Cordes M.,
Harris A.,
Isak A.,
van Brunt A.,
Nguyen C.,
Du F.,
Courtney L.,
Kalicki J.,
Ozersky P.,
Abbott S.,
Armstrong J.,
Belter E.A.,
Caruso L.,
Cedroni M.,
Cotton M.,
Davidson T.,
Desai A.,
Elliott G.,
Erb T.,
Fronick C.,
Gaige T.,
Haakenson W.,
Haglund K.,
Holmes A.,
Harkins R.,
Kim K.,
Kruchowski S.S.,
Strong C.M.,
Grewal N.,
Goyea E.,
Hou S.,
Levy A.,
Martinka S.,
Mead K.,
McLellan M.D.,
Meyer R.,
Randall-Maher J.,
Tomlinson C.,
Dauphin-Kohlberg S.,
Kozlowicz-Reilly A.,
Shah N.,
Swearengen-Shahid S.,
Snider J.,
Strong J.T.,
Thompson J.,
Yoakum M.,
Leonard S.,
Pearman C.,
Trani L.,
Radionenko M.,
Waligorski J.E.,
Wang C.,
Rock S.M.,
Tin-Wollam A.-M.,
Maupin R.,
Latreille P.,
Wendl M.C.,
Yang S.-P.,
Pohl C.,
Wallis J.W.,
Spieth J.,
Bieri T.A.,
Berkowicz N.,
Nelson J.O.,
Osborne J.,
Ding L.,
Meyer R.,
Sabo A.,
Shotland Y.,
Sinha P.,
Wohldmann P.E.,
Cook L.L.,
Hickenbotham M.T.,
Eldred J.,
Williams D.,
Jones T.A.,
She X.,
Ciccarelli F.D.,
Izaurralde E.,
Taylor J.,
Schmutz J.,
Myers R.M.,
Cox D.R.,
Huang X.,
McPherson J.D.,
Mardis E.R.,
Clifton S.W.,
Warren W.C.,
Chinwalla A.T.,
Eddy S.R.,
Marra M.A.,
Ovcharenko I.,
Furey T.S.,
Miller W.,
Eichler E.E.,
Bork P.,
Suyama M.,
Torrents D.,
Waterston R.H.,
Wilson R.K.;
"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.";
Nature 434:724-731(2005).
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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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[7]
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PARTIAL PROTEIN SEQUENCE, AND DISULFIDE BONDS.
DOI=10.1021/bi00222a008; PubMed=1998667 [NCBI, ExPASy, EBI, Israel, Japan]
McMullen B.A.,
Fujikawa K.,
Davie E.W.;
"Location of the disulfide bonds in human coagulation factor XI: the presence of tandem apple domains.";
Biochemistry 30:2056-2060(1991).
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[8]
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HEPARIN-BINDING SITE.
DOI=10.1021/bi0027433; PubMed=11412111 [NCBI, ExPASy, EBI, Israel, Japan]
Badellino K.O.,
Walsh P.N.;
"Localization of a heparin binding site in the catalytic domain of factor XIa.";
Biochemistry 40:7569-7580(2001).
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[9]
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GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-126; ASN-450 AND ASN-491, AND MASS SPECTROMETRY.
TISSUE=Plasma;
DOI=10.1021/pr0502065; PubMed=16335952 [NCBI, ExPASy, EBI, Israel, Japan]
Liu T.,
Qian W.-J.,
Gritsenko M.A.,
Camp D.G. II,
Monroe M.E.,
Moore R.J.,
Smith R.D.;
"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.";
J. Proteome Res. 4:2070-2080(2005).
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[10]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-17 AND THR-22, AND MASS SPECTROMETRY.
DOI=10.2116/analsci.24.161; PubMed=18187866 [NCBI, ExPASy, EBI, Israel, Japan]
Imami K.,
Sugiyama N.,
Kyono Y.,
Tomita M.,
Ishihama Y.;
"Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column.";
Anal. Sci. 24:161-166(2008).
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[11]
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GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-450 AND ASN-491, AND MASS SPECTROMETRY.
TISSUE=Liver;
DOI=10.1021/pr8008012; PubMed=19159218 [NCBI, ExPASy, EBI, Israel, Japan]
Chen R.,
Jiang X.,
Sun D.,
Han G.,
Wang F.,
Ye M.,
Wang L.,
Zou H.;
"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.";
J. Proteome Res. 8:651-661(2009).
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[12]
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VARIANT F11 DEFICIENCY LEU-301.
DOI=10.1073/pnas.86.20.7667; PubMed=2813350 [NCBI, ExPASy, EBI, Israel, Japan]
Asakai R.,
Chung D.W.,
Ratnoff O.D.,
Davie E.W.;
"Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations.";
Proc. Natl. Acad. Sci. U.S.A. 86:7667-7671(1989).
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[13]
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VARIANT F11 DEFICIENCY LEU-301.
PubMed=1547342 [NCBI, ExPASy, EBI, Israel, Japan]
Meijers J.C.,
Davie E.W.,
Chung D.W.;
"Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency.";
Blood 79:1435-1440(1992).
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[14]
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VARIANTS F11 DEFICIENCY HIS-34; PRO-320; ILE-322 AND LYS-341.
PubMed=7888672 [NCBI, ExPASy, EBI, Israel, Japan]
Pugh R.E.,
McVey J.H.,
Tuddenham E.G.,
Hancock J.F.;
"Six point mutations that cause factor XI deficiency.";
Blood 85:1509-1516(1995).
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[15]
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VARIANT F11 DEFICIENCY VAL-460.
DOI=10.1111/j.1365-2141.1995.tb05215.x; PubMed=7669672 [NCBI, ExPASy, EBI, Israel, Japan]
Imanaka Y.,
Lal K.,
Nishimura T.,
Bolton-Maggs P.H.,
Tuddenham E.G.,
McVey J.H.;
"Identification of two novel mutations in non-Jewish factor XI deficiency.";
Br. J. Haematol. 90:916-920(1995).
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[16]
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VARIANT F11 DEFICIENCY ASN-404.
DOI=10.1046/j.1365-2141.1997.4343244.x; PubMed=9401068 [NCBI, ExPASy, EBI, Israel, Japan]
Wistinghausen B.,
Reischer A.,
Oddoux C.,
Ostrer H.,
Nardi M.,
Karpatkin M.;
"Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11.";
Br. J. Haematol. 99:575-577(1997).
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[17]
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VARIANTS F11 DEFICIENCY ARG-244 AND ASN-266.
PubMed=9787168 [NCBI, ExPASy, EBI, Israel, Japan]
Martincic D.,
Zimmerman S.A.,
Ware R.E.,
Sun M.-F.,
Whitlock J.A.,
Gailani D.;
"Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting.";
Blood 92:3309-3317(1998).
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[18]
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ERRATUM.
Martincic D.,
Zimmerman S.A.,
Ware R.E.,
Sun M.-F.,
Whitlock J.A.,
Gailani D.;
Blood 93:1786-1786(1999).
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[19]
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VARIANT F11 DEFICIENCY CYS-246.
DOI=10.1046/j.1365-2141.1999.01150.x; PubMed=10027710 [NCBI, ExPASy, EBI, Israel, Japan]
Alhaq A.,
Mitchell M.,
Sethi M.,
Rahman S.,
Flynn G.,
Boulton P.,
Caeno G.,
Smith M.,
Savidge G.;
"Identification of a novel mutation in a non-Jewish factor XI deficient kindred.";
Br. J. Haematol. 104:44-49(1999).
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[20]
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VARIANTS F11 DEFICIENCY CYS-326; VAL-430 AND ARG-594.
DOI=10.1046/j.1365-2141.1999.01769.x; PubMed=10606881 [NCBI, ExPASy, EBI, Israel, Japan]
Mitchell M.,
Cutler J.,
Thompson S.,
Moore G.,
Jenkins Ap Rees E.,
Smith M.,
Savidge G.,
Alhaq A.;
"Heterozygous factor XI deficiency associated with three novel mutations.";
Br. J. Haematol. 107:763-765(1999).
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[21]
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VARIANTS LEU-66; ARG-244; PHE-308 AND PHE-339.
DOI=10.1038/10290; PubMed=10391209 [NCBI, ExPASy, EBI, Israel, Japan]
Cargill M.,
Altshuler D.,
Ireland J.,
Sklar P.,
Ardlie K.,
Patil N.,
Shaw N.,
Lane C.R.,
Lim E.P.,
Kalyanaraman N.,
Nemesh J.,
Ziaugra L.,
Friedland L.,
Rolfe A.,
Warrington J.,
Lipshutz R.,
Daley G.Q.,
Lander E.S.;
"Characterization of single-nucleotide polymorphisms in coding regions of human genes.";
Nat. Genet. 22:231-238(1999).
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[22]
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ERRATUM.
Cargill M.,
Altshuler D.,
Ireland J.,
Sklar P.,
Ardlie K.,
Patil N.,
Shaw N.,
Lane C.R.,
Lim E.P.,
Kalyanaraman N.,
Nemesh J.,
Ziaugra L.,
Friedland L.,
Rolfe A.,
Warrington J.,
Lipshutz R.,
Daley G.Q.,
Lander E.S.;
Nat. Genet. 23:373-373(1999).
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[23]
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VARIANTS F11 DEFICIENCY ARG-56; TYR-255 AND HIS-511, VARIANT PHE-339, AND CHARACTERIZATION OF VARIANTS F11 DEFICIENCY ARG-56; TYR-255 AND HIS-511.
DOI=10.1182/blood.V99.7.2448; PubMed=11895778 [NCBI, ExPASy, EBI, Israel, Japan]
Zivelin A.,
Bauduer F.,
Ducout L.,
Peretz H.,
Rosenberg N.,
Yatuv R.,
Seligsohn U.;
"Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.";
Blood 99:2448-2454(2002).
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[24]
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VARIANTS F11 DEFICIENCY VAL-418 AND SER-587, AND CHARACTERIZATION OF VARIANTS F11 DEFICIENCY VAL-418 AND SER-587.
DOI=10.1182/blood-2003-10-3530; PubMed=15026311 [NCBI, ExPASy, EBI, Israel, Japan]
Kravtsov D.V.,
Wu W.,
Meijers J.C.M.,
Sun M.-F.,
Blinder M.A.,
Dang T.P.,
Wang H.,
Gailani D.;
"Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain.";
Blood 104:128-134(2004).
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[25]
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VARIANT F11 DEFICIENCY ILE-270, AND CHARACTERIZATION OF VARIANT F11 DEFICIENCY ILE-270.
DOI=10.1111/j.1365-2141.2004.04979.x; PubMed=15180874 [NCBI, ExPASy, EBI, Israel, Japan]
Dai L.,
Mitchell M.,
Carson P.,
Creagh D.,
Cutler J.,
Savidge G.,
Alhaq A.;
"Severe factor XI deficiency caused by compound heterozygosity.";
Br. J. Haematol. 125:817-818(2004).
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[26]
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VARIANTS F11 DEFICIENCY PHE-46; ARG-101; CYS-151; GLU-263; VAL-430; LEU-538; LYS-565 AND SER-618.
DOI=10.1111/j.1365-2141.2005.05536.x; PubMed=15953011 [NCBI, ExPASy, EBI, Israel, Japan]
Hill M.,
McLeod F.,
Franks H.,
Gordon B.,
Dolan G.;
"Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.";
Br. J. Haematol. 129:825-829(2005).
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