[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2), VARIANT CCD ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-84 INS, AND VARIANT 78-ALA--ALA-83 DEL.
DOI=10.1016/S0092-8674(00)80260-3; PubMed=9182765 [NCBI, ExPASy, EBI, Israel, Japan]
Mundlos S.,
Otto F.,
Mundlos C.,
Mulliken J.B.,
Aylsworth A.S.,
Albright S.,
Lindhout D.,
Cole W.G.,
Henn W.,
Knoll J.H.M.,
Owen M.J.,
Mertelsmann R.,
Zabel B.U.,
Olsen B.R.;
"Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.";
Cell 89:773-779(1997).
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[2]
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NUCLEOTIDE SEQUENCE (ISOFORMS 1 AND 3), AND ALTERNATIVE SPLICING.
DOI=10.1007/s003359900679; PubMed=9434946 [NCBI, ExPASy, EBI, Israel, Japan]
Geoffroy V.,
Corral D.A.,
Zhou L.,
Lee B.,
Karsenty G.;
"Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function.";
Mamm. Genome 9:54-57(1998).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02055; PubMed=14574404 [NCBI, ExPASy, EBI, Israel, Japan]
Mungall A.J.,
Palmer S.A.,
Sims S.K.,
Edwards C.A.,
Ashurst J.L.,
Wilming L.,
Jones M.C.,
Horton R.,
Hunt S.E.,
Scott C.E.,
Gilbert J.G.R.,
Clamp M.E.,
Bethel G.,
Milne S.,
Ainscough R.,
Almeida J.P.,
Ambrose K.D.,
Andrews T.D.,
Ashwell R.I.S., ![]()
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Banerjee R.,
Barker D.J.,
Barlow K.F.,
Bates K.,
Beare D.M.,
Beasley H.,
Beasley O.,
Bird C.P.,
Blakey S.E.,
Bray-Allen S.,
Brook J.,
Brown A.J.,
Brown J.Y.,
Burford D.C.,
Burrill W.,
Burton J.,
Carder C.,
Carter N.P.,
Chapman J.C.,
Clark S.Y.,
Clark G.,
Clee C.M.,
Clegg S.,
Cobley V.,
Collier R.E.,
Collins J.E.,
Colman L.K.,
Corby N.R.,
Coville G.J.,
Culley K.M.,
Dhami P.,
Davies J.,
Dunn M.,
Earthrowl M.E.,
Ellington A.E.,
Evans K.A.,
Faulkner L.,
Francis M.D.,
Frankish A.,
Frankland J.,
French L.,
Garner P.,
Garnett J.,
Ghori M.J.,
Gilby L.M.,
Gillson C.J.,
Glithero R.J.,
Grafham D.V.,
Grant M.,
Gribble S.,
Griffiths C.,
Griffiths M.N.D.,
Hall R.,
Halls K.S.,
Hammond S.,
Harley J.L.,
Hart E.A.,
Heath P.D.,
Heathcott R.,
Holmes S.J.,
Howden P.J.,
Howe K.L.,
Howell G.R.,
Huckle E.,
Humphray S.J.,
Humphries M.D.,
Hunt A.R.,
Johnson C.M.,
Joy A.A.,
Kay M.,
Keenan S.J.,
Kimberley A.M.,
King A.,
Laird G.K.,
Langford C.,
Lawlor S.,
Leongamornlert D.A.,
Leversha M.,
Lloyd C.R.,
Lloyd D.M.,
Loveland J.E.,
Lovell J.,
Martin S.,
Mashreghi-Mohammadi M.,
Maslen G.L.,
Matthews L.,
McCann O.T.,
McLaren S.J.,
McLay K.,
McMurray A.,
Moore M.J.F.,
Mullikin J.C.,
Niblett D.,
Nickerson T.,
Novik K.L.,
Oliver K.,
Overton-Larty E.K.,
Parker A.,
Patel R.,
Pearce A.V.,
Peck A.I.,
Phillimore B.J.C.T.,
Phillips S.,
Plumb R.W.,
Porter K.M.,
Ramsey Y.,
Ranby S.A.,
Rice C.M.,
Ross M.T.,
Searle S.M.,
Sehra H.K.,
Sheridan E.,
Skuce C.D.,
Smith S.,
Smith M.,
Spraggon L.,
Squares S.L.,
Steward C.A.,
Sycamore N.,
Tamlyn-Hall G.,
Tester J.,
Theaker A.J.,
Thomas D.W.,
Thorpe A.,
Tracey A.,
Tromans A.,
Tubby B.,
Wall M.,
Wallis J.M.,
West A.P.,
White S.S.,
Whitehead S.L.,
Whittaker H.,
Wild A.,
Willey D.J.,
Wilmer T.E.,
Wood J.M.,
Wray P.W.,
Wyatt J.C.,
Young L.,
Younger R.M.,
Bentley D.R.,
Coulson A.,
Durbin R.M.,
Hubbard T.,
Sulston J.E.,
Dunham I.,
Rogers J.,
Beck S.;
"The DNA sequence and analysis of human chromosome 6.";
Nature 425:805-811(2003).
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 1-19 (ISOFORM 1).
DOI=10.1016/S0378-1119(98)00227-3; PubMed=9651525 [NCBI, ExPASy, EBI, Israel, Japan]
Xiao Z.S.,
Thomas R.,
Hinson T.K.,
Quarles L.D.;
"Genomic structure and isoform expression of the mouse, rat and human Cbfa1/Osf2 transcription factor.";
Gene 214:187-197(1998).
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[5]
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NUCLEOTIDE SEQUENCE OF 60-521 (ISOFORM 3).
DOI=10.1038/sj.onc.1201352; PubMed=9233771 [NCBI, ExPASy, EBI, Israel, Japan]
Zhang Y.-W.,
Bae S.-C.,
Takahashi E.,
Ito Y.;
"The cDNA cloning of the transcripts of human PEBP2alphaA/CBFA1 mapped to 6p12.3-p21.1, the locus for cleidocranial dysplasia.";
Oncogene 15:367-371(1997).
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[6]
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INTERACTION WITH G22P1 AND XRCC5.
TISSUE=Osteoblast;
DOI=10.1074/jbc.M206482200; PubMed=12145306 [NCBI, ExPASy, EBI, Israel, Japan]
Willis D.M.,
Loewy A.P.,
Charlton-Kachigian N.,
Shao J.-S.,
Ornitz D.M.,
Towler D.A.;
"Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex.";
J. Biol. Chem. 277:37280-37291(2002).
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[7]
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INTERACTION WITH MYST3 AND MYST4, AND FUNCTION.
DOI=10.1038/sj.onc.1205367; PubMed=11965546 [NCBI, ExPASy, EBI, Israel, Japan]
Pelletier N.,
Champagne N.,
Stifani S.,
Yang X.-J.;
"MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2.";
Oncogene 21:2729-2740(2002).
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[8]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-340 (ISOFORM 3), AND MASS SPECTROMETRY.
DOI=10.1021/pr0705441; PubMed=18220336 [NCBI, ExPASy, EBI, Israel, Japan]
Cantin G.T.,
Yi W.,
Lu B.,
Park S.K.,
Xu T.,
Lee J.-D.,
Yates J.R. III;
"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.";
J. Proteome Res. 7:1346-1351(2008).
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[9]
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VARIANTS CCD ARG-175 AND ASN-191.
DOI=10.1038/ng0797-307; PubMed=9207800 [NCBI, ExPASy, EBI, Israel, Japan]
Lee B.,
Thirunavukkarasu K.,
Zhou L.,
Pastore L.,
Baldini A.,
Hecht J.,
Geoffroy V.,
Ducy P.,
Karsenty G.;
"Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.";
Nat. Genet. 16:307-310(1997).
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[10]
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VARIANTS CCD ARG-113; ARG-118; CYS-121; ARG-123; ARG-205; GLN-225; TRP-225 AND SER-511.
DOI=10.1086/302622; PubMed=10521292 [NCBI, ExPASy, EBI, Israel, Japan]
Quack I.,
Vonderstrass B.,
Stock M.,
Aylsworth A.S.,
Becker A.,
Brueton L.,
Lee P.J.,
Majewski F.,
Mulliken J.B.,
Suri M.,
Zenker M.,
Mundlos S.,
Otto F.;
"Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.";
Am. J. Hum. Genet. 65:1268-1278(1999).
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[11]
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VARIANTS CCD ASN-133 DEL; GLN-169; ARG-175; GLN-190; ASN-191; CYS-193; PHE-199; ALA-200; ARG-209 AND GLN-225.
DOI=10.1093/hmg/8.12.2311; PubMed=10545612 [NCBI, ExPASy, EBI, Israel, Japan]
Zhou G.,
Chen Y.,
Zhou L.,
Thirunavukkarasu K.,
Hecht J.,
Chitayat D.,
Gelb B.D.,
Pirinen S.,
Berry S.A.,
Greenberg C.R.,
Karsenty G.,
Lee B.;
"CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.";
Hum. Mol. Genet. 8:2311-2316(1999).
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[12]
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VARIANT CCD SER-197.
DOI=10.1016/S0378-1119(99)00558-2; PubMed=10689183 [NCBI, ExPASy, EBI, Israel, Japan]
Zhang Y.-W.,
Yasui N.,
Kakazu N.,
Abe T.,
Takada K.,
Imai S.,
Sato M.,
Nomura S.,
Ochi T.,
Okuzumi S.,
Nogami H.,
Nagai T.,
Ohashi H.,
Ito Y.;
"PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients.";
Gene 244:21-28(2000).
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[13]
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VARIANT CCD TRP-190.
DOI=10.1002/1098-1004(200009)16:3<277::AID-HUMU25>3.0.CO;2-V; PubMed=10980549 [NCBI, ExPASy, EBI, Israel, Japan]
Giannotti A.,
Tessa A.,
Patrono C.,
De Florio L.,
Velardo M.,
Dionisi-Vici C.,
Bertini E.,
Santorelli F.M.;
"A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.";
Hum. Mutat. 16:277-277(2000).
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