[1]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Neonatal brain stem;
PubMed=1697263 [NCBI, ExPASy, EBI, Israel, Japan]
Dionne C.A.,
Crumley G.R.,
Bellot F.,
Kaplow J.M.,
Searfoss G.,
Ruta M.,
Burgess W.H.,
Jaye M.,
Schlessinger J.;
"Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors.";
EMBO J. 9:2685-2692(1990).
|
[2]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 16).
PubMed=2172978 [NCBI, ExPASy, EBI, Israel, Japan]
Houssaint E.,
Blanquet P.R.,
Champion-Arnaud P.,
Gesnel M.-C.,
Torriglia A.,
Courtois Y.,
Breathnach R.;
"Related fibroblast growth factor receptor genes exist in the human genome.";
Proc. Natl. Acad. Sci. U.S.A. 87:8180-8184(1990).
|
[3]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 17).
DOI=10.1016/0167-4781(91)90015-E; PubMed=1647213 [NCBI, ExPASy, EBI, Israel, Japan]
Seno M.,
Sasada R.,
Watanabe T.,
Ishimaru K.,
Igarashi K.;
"Two cDNAs encoding novel human FGF receptor.";
Biochim. Biophys. Acta 1089:244-246(1991).
|
[4]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
TISSUE=Stomach cancer;
PubMed=2377625 [NCBI, ExPASy, EBI, Israel, Japan]
Hattori Y.,
Odagiri H.,
Nakatani H.,
Miyagawa K.,
Naito K.,
Sakamoto H.,
Katoh O.,
Yoshida T.,
Sugimura T.,
Terada M.;
"K-sam, an amplified gene in stomach cancer, is a member of the heparin-binding growth factor receptor genes.";
Proc. Natl. Acad. Sci. U.S.A. 87:5983-5987(1990).
|
[5]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 5; 14 AND 15).
PubMed=1313574 [NCBI, ExPASy, EBI, Israel, Japan]
Katoh M.,
Hattori Y.,
Sasaki H.,
Tanaka M.,
Sugano K.,
Yazaki Y.,
Sugimura T.,
Terada M.;
"K-sam gene encodes secreted as well as transmembrane receptor tyrosine kinase.";
Proc. Natl. Acad. Sci. U.S.A. 89:2960-2964(1992).
|
[6]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
TISSUE=Placenta;
PubMed=1400433 [NCBI, ExPASy, EBI, Israel, Japan]
Dell K.R.,
Williams L.T.;
"A novel form of fibroblast growth factor receptor 2. Alternative splicing of the third immunoglobulin-like domain confers ligand binding specificity.";
J. Biol. Chem. 267:21225-21229(1992).
|
[7]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 19), AND VARIANT ARG-613.
TISSUE=Mammary gland;
PubMed=1309608 [NCBI, ExPASy, EBI, Israel, Japan]
Miki T.,
Bottaro D.P.,
Fleming T.P.,
Smith C.L.,
Burgess W.H.,
Chan A.M.-L.,
Aaronson S.A.;
"Determination of ligand-binding specificity by alternative splicing: two distinct growth factor receptors encoded by a single gene.";
Proc. Natl. Acad. Sci. U.S.A. 89:246-250(1992).
|
[8]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 19).
TISSUE=Cornea, and Mammary gland;
PubMed=7866434 [NCBI, ExPASy, EBI, Israel, Japan]
Wilson S.E.,
Weng J.,
Chwang E.L.,
Gollahon L.,
Leitch A.M.,
Shay J.W.;
"Hepatocyte growth factor (HGF), keratinocyte growth factor (KGF), and their receptors in human breast cells and tissues: alternative receptors.";
Cell. Mol. Biol. Res. 40:337-350(1994).
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[9]
|
ERRATUM.
Wilson S.E.,
Weng J.,
Chwang E.L.,
Gollahon L.,
Leitch A.M.,
Shay J.W.;
Cell. Mol. Biol. Res. 40:707-707(1994).
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[10]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT CS SER-342.
TISSUE=Blood;
Steinberger D.,
Mueller U.;
Submitted (APR-1996) to the EMBL/GenBank/DDBJ databases.
|
[11]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 7; 9; 10; 11; 12 AND 13), AND VARIANT ARG-613.
PubMed=10626794 [NCBI, ExPASy, EBI, Israel, Japan]
Ueda T.,
Sasaki H.,
Kuwahara Y.,
Nezu M.,
Shibuya T.,
Sakamoto H.,
Ishii H.,
Yanagihara K.,
Mafune K.,
Makuuchi M.,
Terada M.;
"Deletion of the carboxyl-terminal exons of K-sam/FGFR2 by short homology-mediated recombination, generating preferential expression of specific messenger RNAs.";
Cancer Res. 59:6080-6086(1999).
|
[12]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 5; 6; 8; 14 AND 18).
PubMed=11856867 [NCBI, ExPASy, EBI, Israel, Japan]
Ingersoll R.G.,
Paznekas W.A.,
Tran A.K.,
Scott A.F.,
Jiang G.,
Jabs E.W.;
"Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations.";
Cytogenet. Cell Genet. 94:121-126(2001).
|
[13]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3).
Lind D.L.,
Cox D.R.;
"Sequence and polymorphisms in fibroblast growth factor receptor 2 (FGFR2) gene in humans.";
Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases.
|
[14]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 20).
TISSUE=Brain;
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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[15]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 314-427.
DOI=10.1086/302831; PubMed=10712195 [NCBI, ExPASy, EBI, Israel, Japan]
Glaser R.L.,
Jiang W.,
Boyadjiev S.A.,
Tran A.K.,
Zachary A.A.,
Van Maldergem L.,
Johnson D.,
Walsh S.,
Oldridge M.,
Wall S.A.,
Wilkie A.O.M.,
Jabs E.W.;
"Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.";
Am. J. Hum. Genet. 66:768-777(2000).
|
[16]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-209; 212-767 AND 771-821 (ISOFORMS 5; 14 AND 18).
DOI=10.1016/S0378-1119(99)00047-5; PubMed=10196476 [NCBI, ExPASy, EBI, Israel, Japan]
Zhang Y.,
Gorry M.C.,
Post J.C.,
Ehrlich G.D.;
"Genomic organization of the human fibroblast growth factor receptor 2 (FGFR2) gene and comparative analysis of the human FGFR gene family.";
Gene 230:69-79(1999).
|
[17]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 249-313, AND VARIANTS APRS TRP-252 AND ARG-253.
PubMed=7668257 [NCBI, ExPASy, EBI, Israel, Japan]
Park W.-J.,
Theda C.,
Maestri N.E.,
Meyers G.A.,
Fryburg J.S.,
Dufresne C.,
Cohen M.M. Jr.,
Jabs E.W.;
"Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.";
Am. J. Hum. Genet. 57:321-328(1995).
|
[18]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 251-259.
PubMed=8676562 [NCBI, ExPASy, EBI, Israel, Japan]
Wada C.,
Ishigaki M.,
Toyo-oka Y.,
Yamabe H.,
Ohnuki Y.,
Takada F.,
Yamazaki Y.,
Ohtani H.;
"Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome.";
Rinsho Byori 44:435-438(1996).
|
[19]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 251-318.
DOI=10.1038/ng0596-48; PubMed=8673103 [NCBI, ExPASy, EBI, Israel, Japan]
Moloney D.M.,
Slaney S.F.,
Oldridge M.,
Wall S.A.,
Sahlin P.,
Stenman G.,
Wilkie A.O.M.;
"Exclusive paternal origin of new mutations in Apert syndrome.";
Nat. Genet. 13:48-53(1996).
|
[20]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 263-361, AND VARIANTS CS PRO-289; ARG-338; SER-342; TYR-342; GLY-344 AND CYS-354.
DOI=10.1093/hmg/4.8.1387; PubMed=7581378 [NCBI, ExPASy, EBI, Israel, Japan]
Gorry M.C.,
Preston R.A.,
White G.J.,
Zhang Y.,
Singhal V.K.,
Losken H.W.,
Parker M.G.,
Nwokoro N.A.,
Post J.C.,
Ehrlich G.D.;
"Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.";
Hum. Mol. Genet. 4:1387-1390(1995).
|
[21]
|
X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 147-366 IN COMPLEX WITH FGF2.
DOI=10.1016/S0092-8674(00)80851-X; PubMed=10830168 [NCBI, ExPASy, EBI, Israel, Japan]
Plotnikov A.N.,
Hubbard S.R.,
Schlessinger J.,
Mohammadi M.;
"Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity.";
Cell 101:413-424(2000).
|
[22]
|
X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 148-366 IN COMPLEX WITH FGF1 AND HEPARIN.
DOI=10.1038/35039551; PubMed=11069186 [NCBI, ExPASy, EBI, Israel, Japan]
Pellegrini L.,
Burke D.F.,
von Delft F.,
Mulloy B.,
Blundell T.L.;
"Crystal structure of fibroblast growth factor receptor ectodomain bound to ligand and heparin.";
Nature 407:1029-1034(2000).
|
[23]
|
X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 147-362 IN COMPLEX WITH FGF1.
DOI=10.1073/pnas.97.1.49; PubMed=10618369 [NCBI, ExPASy, EBI, Israel, Japan]
Stauber D.J.,
DiGabriele A.D.,
Hendrickson W.A.;
"Structural interactions of fibroblast growth factor receptor with its ligands.";
Proc. Natl. Acad. Sci. U.S.A. 97:49-54(2000).
|
[24]
|
X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 147-366 OF VARIANTS APRS TRP-252 AND ARG-253 IN COMPLEX WITH FGF2.
DOI=10.1073/pnas.121183798; PubMed=11390973 [NCBI, ExPASy, EBI, Israel, Japan]
Ibrahimi O.A.,
Eliseenkova A.V.,
Plotnikov A.N.,
Yu K.,
Ornitz D.M.,
Mohammadi M.;
"Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.";
Proc. Natl. Acad. Sci. U.S.A. 98:7182-7187(2001).
|
[25]
|
X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS) OF 140-371 IN COMPLEX WITH FGF10.
DOI=10.1073/pnas.0436500100; PubMed=12591959 [NCBI, ExPASy, EBI, Israel, Japan]
Yeh B.K.,
Igarashi M.,
Eliseenkova A.V.,
Plotnikov A.N.,
Sher I.,
Ron D.,
Aaronson S.A.,
Mohammadi M.;
"Structural basis by which alternative splicing confers specificity in fibroblast growth factor receptors.";
Proc. Natl. Acad. Sci. U.S.A. 100:2266-2271(2003).
|
[26]
|
X-RAY CRYSTALLOGRAPHY (2.28 ANGSTROMS) OF 149-368 IN COMPLEX WITH FGF8.
DOI=10.1101/gad.1365406; PubMed=16384934 [NCBI, ExPASy, EBI, Israel, Japan]
Olsen S.K.,
Li J.Y.H.,
Bromleigh C.,
Eliseenkova A.V.,
Ibrahimi O.A.,
Lao Z.,
Zhang F.,
Linhardt R.J.,
Joyner A.L.,
Mohammadi M.;
"Structural basis by which alternative splicing modulates the organizer activity of FGF8 in the brain.";
Genes Dev. 20:185-198(2006).
|
[27]
|
VARIANTS CS HIS-340; ARG-342; SER-342; TYR-342 AND CYS-354.
DOI=10.1038/ng0994-98; PubMed=7987400 [NCBI, ExPASy, EBI, Israel, Japan]
Reardon W.,
Winter R.M.,
Rutland P.,
Pulleyn L.J.,
Jones B.M.,
Malcolm S.;
"Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.";
Nat. Genet. 8:98-103(1994).
|
[28]
|
VARIANTS CS CYS-328 AND CYS-347, AND VARIANT JWS GLY-344.
DOI=10.1038/ng1194-275; PubMed=7874170 [NCBI, ExPASy, EBI, Israel, Japan]
Jabs E.W.,
Li X.,
Scott A.F.,
Meyers G.A.,
Chen W.,
Eccles M.,
Mao J.,
Charnas L.R.,
Jackson C.E.,
Jaye M.;
"Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.";
Nat. Genet. 8:275-279(1994).
|
[29]
|
VARIANTS CS.
DOI=10.1093/hmg/4.6.1077; PubMed=7655462 [NCBI, ExPASy, EBI, Israel, Japan]
Oldridge M.,
Wilkie A.O.M.,
Slaney S.F.,
Poole M.D.,
Pulleyn L.J.,
Rutland P.,
Hockley A.D.,
Wake M.J.C.,
Goldin J.H.,
Winter R.M.,
Reardon W.,
Malcolm S.;
"Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.";
Hum. Mol. Genet. 4:1077-1082(1995).
|
[30]
|
VARIANTS CS GLY-290; TRP-342 AND CYS-354, AND VARIANT JWS ARG-342.
DOI=10.1093/hmg/4.7.1229; PubMed=8528214 [NCBI, ExPASy, EBI, Israel, Japan]
Park W.-J.,
Meyers G.A.,
Li X.,
Theda C.,
Day D.,
Orlow S.J.,
Jones M.C.,
Jabs E.W.;
"Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.";
Hum. Mol. Genet. 4:1229-1233(1995).
|
[31]
|
VARIANT PS ALA-321.
DOI=10.1038/ng0295-108; PubMed=7719333 [NCBI, ExPASy, EBI, Israel, Japan]
Lajeunie E.,
Wei M.H.,
Bonaventure J.,
Munnich A.,
le Merrer M.,
Renier D.;
"FGFR2 mutations in Pfeiffer syndrome.";
Nat. Genet. 9:108-108(1995).
|
[32]
|
VARIANTS APRS TRP-252 AND ARG-253.
DOI=10.1038/ng0295-165; PubMed=7719344 [NCBI, ExPASy, EBI, Israel, Japan]
Wilkie A.O.M.,
Slaney S.F.,
Oldridge M.,
Poole M.D.,
Ashworth G.J.,
Hockley A.D.,
Hayward R.D.,
David D.J.,
Pulleyn L.J.,
Rutland P.,
Malcolm S.,
Winter R.M.,
Reardon W.;
"Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.";
Nat. Genet. 9:165-172(1995).
|
[33]
|
VARIANTS PS PRO-341; ARG-342 AND TYR-342.
DOI=10.1038/ng0295-173; PubMed=7719345 [NCBI, ExPASy, EBI, Israel, Japan]
Rutland P.,
Pulleyn L.J.,
Reardon W.,
Baraister M.,
Hayward R.,
Jones B.M.,
Malcolm S.,
Winter R.M.,
Oldridge M.,
Slaney S.F.,
Poole M.D.,
Wilkie A.O.M.;
"Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.";
Nat. Genet. 9:173-176(1995).
|
[34]
|
VARIANTS CS GLY-268 INS; PHE-342 AND TYR-342, VARIANTS PS PHE-278; ARG-342; SER-342; PRO-344 AND PHE-359, AND VARIANT JWS PRO-289.
PubMed=8644708 [NCBI, ExPASy, EBI, Israel, Japan]
Meyers G.A.,
Day D.,
Goldberg R.,
Daentl D.L.,
Przylepa K.A.,
Abrams L.J.,
Graham J.M. Jr.,
Feingold M.,
Moeschler J.B.,
Rawnsley E.,
Scott A.F.,
Jabs E.W.;
"FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.";
Am. J. Hum. Genet. 58:491-498(1996).
|
[35]
|
VARIANTS CS CYS-105; GLU-338; CYS-351 AND ARG-384.
PubMed=8946174 [NCBI, ExPASy, EBI, Israel, Japan]
Pulleyn L.J.,
Reardon W.,
Wilkes D.,
Rutland P.,
Jones B.M.,
Hayward R.,
Hall C.M.,
Brueton L.,
Chun N.,
Lammer E.,
Malcolm S.,
Winter R.M.;
"Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.";
Eur. J. Hum. Genet. 4:283-291(1996).
|
[36]
|
VARIANTS CS ILE-331; ASN-ALA-337 INS AND 356-TRP--THR-358 DEL.
DOI=10.1002/(SICI)1098-1004(1996)8:4<386::AID-HUMU18>3.3.CO;2-A; PubMed=8956050 [NCBI, ExPASy, EBI, Israel, Japan]
Steinberger D.,
Mulliken J.B.,
Mueller U.;
"Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.";
Hum. Mutat. 8:386-390(1996).
|
[37]
|
VARIANTS BSCGS CYS-372 AND CYS-375.
DOI=10.1038/ng0896-492; PubMed=8696350 [NCBI, ExPASy, EBI, Israel, Japan]
Przylepa K.A.,
Paznekas W.A.,
Zhang M.,
Golabi M.,
Bias W.,
Bamshad M.J.,
Carey J.C.,
Hall B.D.,
Stevenson R.,
Orlow S.J.,
Cohen M.M. Jr.,
Jabs E.W.;
"Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.";
Nat. Genet. 13:492-494(1996).
|
[38]
|
VARIANT PS CYS-290.
DOI=10.1007/s004390050413; PubMed=9150725 [NCBI, ExPASy, EBI, Israel, Japan]
Tartaglia M.,
Valeri S.,
Velardi F.,
di Rocco C.,
Battaglia P.A.;
"Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.";
Hum. Genet. 99:602-606(1997).
|
[39]
|
VARIANT JWS SER-342.
DOI=10.1007/s004390050584; PubMed=9385368 [NCBI, ExPASy, EBI, Israel, Japan]
Tartaglia M.,
Di Rocco C.,
Lajeunie E.,
Valeri S.,
Velardi F.,
Battaglia P.A.;
"Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.";
Hum. Genet. 101:47-50(1997).
|
[40]
|
VARIANT CS LEU-252, VARIANT APRS PHE-252, AND VARIANT PS 252-PHE-SER-253.
DOI=10.1093/hmg/6.1.137; PubMed=9002682 [NCBI, ExPASy, EBI, Israel, Japan]
Oldridge M.,
Lunt P.W.,
Zackai E.H.,
McDonald-Mcginn D.M.,
Muenke M.,
Moloney D.M.,
Twigg S.R.F.,
Heath J.K.,
Howard T.D.,
Hoganson G.,
Gagnon D.M.,
Jabs E.W.,
Wilkie A.O.M.;
"Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.";
Hum. Mol. Genet. 6:137-143(1997).
|
[41]
|
VARIANT CS GLU-292.
PubMed=9152842 [NCBI, ExPASy, EBI, Israel, Japan]
Steinberger D.,
Collmann H.,
Schmalenberger B.,
Mueller U.;
"A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.";
J. Med. Genet. 34:420-422(1997).
|
[42]
|
VARIANTS CS PHE-278; PRO-337; ARG-338; ARG-342; PHE-342 AND TYR-342, VARIANTS APRS TRP-252 AND ARG-253, AND VARIANT JWS PHE-278.
DOI=10.1002/(SICI)1096-8628(19980707)78:3<237::AID-AJMG5>3.3.CO;2-5; PubMed=9677057 [NCBI, ExPASy, EBI, Israel, Japan]
Passos-Bueno M.R.,
Sertie A.L.,
Richieri-Costa A.,
Alonso L.G.,
Zatz M.,
Alonso N.,
Brunoni D.,
Ribeiro S.F.M.;
"Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.";
Am. J. Med. Genet. 78:237-241(1998).
|
[43]
|
VARIANTS CS VAL-276 AND CYS-301, AND VARIANT CRANIOSYNOSTOSIS SER-314.
DOI=10.1007/s004390050668; PubMed=9521581 [NCBI, ExPASy, EBI, Israel, Japan]
Steinberger D.,
Vriend G.,
Mulliken J.B.,
Mueller U.;
"The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.";
Hum. Genet. 102:145-150(1998).
|
[44]
|
VARIANTS APRS TRP-252 AND ARG-253.
PubMed=9452027 [NCBI, ExPASy, EBI, Israel, Japan]
Tsai F.-J.,
Hwu W.-L.,
Lin S.-P.,
Chang J.-G.,
Wang T.-R.,
Tsai C.-H.;
"Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome.";
Hum. Mutat. Suppl. 1:S18-S19(1998).
|
[45]
|
VARIANT PS CYS-351.
PubMed=9693549 [NCBI, ExPASy, EBI, Israel, Japan]
Mathijssen I.M.,
Vaandrager J.M.,
Hoogeboom A.J.,
Hesseling-Janssen A.L.W.,
van den Ouweland A.M.W.;
"Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.";
J. Craniofac. Surg. 9:207-209(1998).
|
[46]
|
VARIANT PS TRP-252.
PubMed=9719378 [NCBI, ExPASy, EBI, Israel, Japan]
Passos-Bueno M.R.,
Richieri-Costa A.,
Sertie A.L.,
Kneppers A.;
"Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.";
J. Med. Genet. 35:677-679(1998).
|
[47]
|
VARIANT CS SER-362.
PubMed=10574673 [NCBI, ExPASy, EBI, Israel, Japan]
Everett E.T.,
Britto D.A.,
Ward R.E.,
Hartsfield J.K. Jr.;
"A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.";
Cleft Palate Craniofac. J. 36:533-541(1999).
|
[48]
|
VARIANTS PS CYS-340 AND GLY-342.
DOI=10.1007/s004390050979; PubMed=10394936 [NCBI, ExPASy, EBI, Israel, Japan]
Cornejo-Roldan L.R.,
Roessler E.,
Muenke M.;
"Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.";
Hum. Genet. 104:425-431(1999).
|
[49]
|
VARIANT PS ASP-273 DEL.
PubMed=10945669 [NCBI, ExPASy, EBI, Israel, Japan]
Priolo M.,
Lerone M.,
Baffico M.,
Baldi M.,
Ravazzolo R.,
Cama A.,
Capra V.,
Silengo M.;
"Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.";
Clin. Genet. 58:81-83(2000).
|
[50]
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VARIANTS CS/PS ARG-342 AND TYR-342, VARIANTS CS LEU-263; VAL-276; PHE-278; TYR-278; SER-288; PRO-289; PRO-341; TRP-342; CYS-354; TYR-354 AND PHE-359, AND VARIANT PS SER-342.
PubMed=11173845 [NCBI, ExPASy, EBI, Israel, Japan]
Kress W.,
Collmann H.,
Buesse M.,
Halliger-Keller B.,
Mueller C.R.;
"Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).";
Cytogenet. Cell Genet. 91:134-137(2000).
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[51]
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VARIANT SER-315.
DOI=10.1038/sj.ejhg.5200499; PubMed=10951518 [NCBI, ExPASy, EBI, Israel, Japan]
Johnson D.,
Wall S.A.,
Mann S.,
Wilkie A.O.M.;
"A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?";
Eur. J. Hum. Genet. 8:571-577(2000).
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[52]
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VARIANTS ABS ARG-342; SER-342 AND CYS-351.
DOI=10.1136/jmg.37.1.26; PubMed=10633130 [NCBI, ExPASy, EBI, Israel, Japan]
Reardon W.,
Smith A.,
Honour J.W.,
Hindmarsh P.,
Das D.,
Rumsby G.,
Nelson I.,
Malcolm S.,
Ades L.,
Sillence D.,
Kumar D.,
DeLozier-Blanchet C.,
McKee S.,
Kelly T.,
McKeehan W.L.,
Baraitser M.,
Winter R.M.;
"Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?";
J. Med. Genet. 37:26-32(2000).
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[53]
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VARIANTS CS CYS-281; PRO-289; ARG-342 AND TYR-342.
DOI=10.1046/j.1442-200x.2001.01392.x; PubMed=11380921 [NCBI, ExPASy, EBI, Israel, Japan]
Tsai F.-J.,
Yang C.-F.,
Wu J.-Y.,
Tsai C.-H.,
Lee C.-C.;
"Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.";
Pediatr. Int. 43:263-266(2001).
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[54]
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VARIANTS CS CYS-105; PRO-267; VAL-276; CYS-281; PRO-289; ARG-338; HIS-340; PHE-342; TRP-342; CYS-347; CYS-354; HIS-549 AND GLY-678, VARIANTS PS PHE-172; 252-PHE-SER-253; CYS-290; CYS-340; PRO-341; ARG-342; SER-342; CYS-375; GLY-565; ARG-641 AND GLU-663, VARIANTS APRS TRP-252 AND ARG-253, VARIANTS CS/PS PHE-278 AND TYR-342, VARIANT CRANIOSYNOSTOSIS ASN-659, AND VARIANTS THR-186 AND SER-315.
DOI=10.1086/338758; PubMed=11781872 [NCBI, ExPASy, EBI, Israel, Japan]
Kan S.-H.,
Elanko N.,
Johnson D.,
Cornejo-Roldan L.R.,
Cook J.,
Reich E.W.,
Tomkins S.,
Verloes A.,
Twigg S.R.F.,
Rannan-Eliya S.,
McDonald-McGinn D.M.,
Zackai E.H.,
Wall S.A.,
Muenke M.,
Wilkie A.O.M.;
"Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.";
Am. J. Hum. Genet. 70:472-486(2002).
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[55]
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VARIANT BSCGS CYS-375.
PubMed=12000365 [NCBI, ExPASy, EBI, Israel, Japan]
Wang T.-J.,
Huang C.-B.,
Tsai F.-J.,
Wu J.-Y.,
Lai R.-B.,
Hsiao M.;
"Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome.";
Clin. Genet. 61:218-221(2002).
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[56]
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VARIANT FSPC GLU-526.
DOI=10.1136/jmg.2004.027888; PubMed=16061565 [NCBI, ExPASy, EBI, Israel, Japan]
McGillivray G.,
Savarirayan R.,
Cox T.C.,
Stojkoski C.,
McNeil R.,
Bankier A.,
Bateman J.F.,
Roscioli T.,
Gardner R.J.M.,
Lamande S.R.;
"Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.";
J. Med. Genet. 42:656-662(2005).
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[57]
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VARIANTS LADDS THR-628; THR-648 AND 649-ARG-ASP-650 DELINS SER.
DOI=10.1038/ng1757; PubMed=16501574 [NCBI, ExPASy, EBI, Israel, Japan]
Rohmann E.,
Brunner H.G.,
Kayserili H.,
Uyguner O.,
Nuernberg G.,
Lew E.D.,
Dobbie A.,
Eswarakumar V.P.,
Uzumcu A.,
Ulubil-Emeroglu M.,
Leroy J.G.,
Li Y.,
Becker C.,
Lehnerdt K.,
Cremers C.W.R.J.,
Yueksel-Apak M.,
Nuernberg P.,
Kubisch C.,
Schlessinger J., ![]()
van Bokhoven H.,
Wollnik B.;
"Mutations in different components of FGF signaling in LADD syndrome.";
Nat. Genet. 38:414-417(2006).
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[58]
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VARIANT [LARGE SCALE ANALYSIS] CYS-203.
DOI=10.1126/science.1133427; PubMed=16959974 [NCBI, ExPASy, EBI, Israel, Japan]
Sjoeblom T.,
Jones S.,
Wood L.D.,
Parsons D.W.,
Lin J.,
Barber T.D.,
Mandelker D.,
Leary R.J.,
Ptak J.,
Silliman N.,
Szabo S.,
Buckhaults P.,
Farrell C.,
Meeh P.,
Markowitz S.D.,
Willis J.,
Dawson D.,
Willson J.K.V.,
Gazdar A.F., ![]()
Hartigan J.,
Wu L.,
Liu C.,
Parmigiani G.,
Park B.H.,
Bachman K.E.,
Papadopoulos N.,
Vogelstein B.,
Kinzler K.W.,
Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal cancers.";
Science 314:268-274(2006).
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[59]
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VARIANTS [LARGE SCALE ANALYSIS] LEU-57; THR-186; CYS-203; VAL-272; ASN-283; CYS-290 AND THR-612.
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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