[1]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Placenta;
DOI=10.1093/nar/18.7.1906; PubMed=2159626 [NCBI, ExPASy, EBI, Israel, Japan]
Isacchi A.,
Bergonzoni L.,
Sarmientos P.;
"Complete sequence of a human receptor for acidic and basic fibroblast growth factors.";
Nucleic Acids Res. 18:1906-1906(1990).
|
[2]
|
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).
|
[3]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=1317750 [NCBI, ExPASy, EBI, Israel, Japan]
Hattori Y.,
Odagiri H.,
Katoh O.,
Sakamoto H.,
Morita T.,
Shimotohno K.,
Tobinai K.,
Sugimura T.,
Terada M.;
"K-sam-related gene, N-sam, encodes fibroblast growth factor receptor and is expressed in T-lymphocytic tumors.";
Cancer Res. 52:3367-3371(1992).
|
[4]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5; 6; 7; 8; 9; 10; 11; 12 AND 13).
TISSUE=Liver;
PubMed=1846977 [NCBI, ExPASy, EBI, Israel, Japan]
Hou J.,
Kan M.,
McKeehan K.,
McBride G.,
Adams P.,
McKeehan W.L.;
"Fibroblast growth factor receptors from liver vary in three structural domains.";
Science 251:665-668(1991).
|
[5]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 14).
PubMed=1662973 [NCBI, ExPASy, EBI, Israel, Japan]
Kiefer M.C.,
Baird A.,
George-Nascimento C.,
Nguyen T.,
Mason O.B.,
Boley L.J.,
Valenzuela P.,
Barr P.J.;
"Molecular cloning of a human basic fibroblast growth factor receptor cDNA and expression of a biologically active extracellular domain in a baculovirus system.";
Growth Factors 5:115-127(1991).
|
[6]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 15).
TISSUE=Placenta;
DOI=10.1016/0006-291X(90)90384-Y; PubMed=2162671 [NCBI, ExPASy, EBI, Israel, Japan]
Itoh N.,
Terachi T.,
Ohta M.,
Seo M.K.;
"The complete amino acid sequence of the shorter form of human basic fibroblast growth factor receptor deduced from its cDNA.";
Biochem. Biophys. Res. Commun. 169:680-685(1990).
|
[7]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 6; 15; 17 AND 18).
PubMed=2167437 [NCBI, ExPASy, EBI, Israel, Japan]
Johnson D.E.,
Lee P.L.,
Lu J.,
Williams L.T.;
"Diverse forms of a receptor for acidic and basic fibroblast growth factors.";
Mol. Cell. Biol. 10:4728-4736(1990).
|
[8]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 6; 14; 15 AND 16).
TISSUE=Lung;
PubMed=1650441 [NCBI, ExPASy, EBI, Israel, Japan]
Eisemann A.,
Ahn J.A.,
Graziani G.,
Tronick S.R.,
Ron D.;
"Alternative splicing generates at least five different isoforms of the human basic-FGF receptor.";
Oncogene 6:1195-1202(1991).
|
[9]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 14).
TISSUE=Teratocarcinoma;
PubMed=1722683 [NCBI, ExPASy, EBI, Israel, Japan]
Wennstroem S.,
Sandstroem C.,
Claesson-Welsh L.;
"cDNA cloning and expression of a human FGF receptor which binds acidic and basic FGF.";
Growth Factors 4:197-208(1991).
|
[10]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS SER-22; ARG-818 AND CYS-822.
Livingston R.J.,
Rieder M.J.,
Chung M.-W.,
Ritchie T.K.,
Olson A.N.,
Nguyen C.P.,
Nguyen D.A.,
Poel C.L.,
Robertson P.D.,
Schackwitz W.S.,
Sherwood J.K.,
Sherwood A.M.,
Leithauser B.J.,
Nickerson D.A.;
"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases.
|
[11]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 14), AND VARIANT GLY-213.
TISSUE=Uterus;
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).
|
[12]
|
NUCLEOTIDE SEQUENCE [MRNA] OF 201-822.
Ruta M.,
Howk R.,
Ricca G.,
Drohan W.,
Zabelshansky M.,
Laureys G.,
Barton D.E.,
Francke U.,
Schlessinger J.,
Givol D.;
"A novel protein tyrosine kinase gene whose expression is modulated during endothelial cell differentiation.";
Oncogene 3:9-15(1988).
|
[13]
|
PARTIAL NUCLEOTIDE SEQUENCE [MRNA].
PubMed=1847500 [NCBI, ExPASy, EBI, Israel, Japan]
Gutkind S.J.,
Link D.C.,
Katamine S.,
Lacal P.,
Miki T.,
Ley T.J.,
Robbins K.C.;
"A novel c-fgr exon utilized in Epstein-Barr virus-infected B lymphocytes but not in normal monocytes.";
Mol. Cell. Biol. 11:1500-1507(1991).
|
[14]
|
PROTEIN SEQUENCE OF 81-100.
DOI=10.1006/bbrc.1994.2203; PubMed=8074689 [NCBI, ExPASy, EBI, Israel, Japan]
Rusnati M.,
Coltrini D.,
Caccia P.,
Dell'Era P.,
Zoppetti G.,
Oreste P.,
Valsasina B.,
Presta M.;
"Distinct role of 2-O-, N-, and 6-O-sulfate groups of heparin in the formation of the ternary complex with basic fibroblast growth factor and soluble FGF receptor-1.";
Biochem. Biophys. Res. Commun. 203:450-458(1994).
|
[15]
|
MUTAGENESIS OF TYR-766.
DOI=10.1038/358678a0; PubMed=1379697 [NCBI, ExPASy, EBI, Israel, Japan]
Peters K.G.,
Marie J.,
Wilson E.,
Ives H.E.,
Escobedo J.,
del Rosario M.,
Mirda D.,
Williams L.T.;
"Point mutation of an FGF receptor abolishes phosphatidylinositol turnover and Ca2+ flux but not mitogenesis.";
Nature 358:678-681(1992).
|
[16]
|
MUTAGENESIS OF TYR-766.
DOI=10.1038/358681a0; PubMed=1379698 [NCBI, ExPASy, EBI, Israel, Japan]
Mohammadi M.,
Dionne C.A.,
Li W.,
Lin N.,
Spivak T.,
Honegger A.M.,
Jaye M.,
Schlessinger J.;
"Point mutation in FGF receptor eliminates phosphatidylinositol hydrolysis without affecting mitogenesis.";
Nature 358:681-684(1992).
|
[17]
|
INTERACTION WITH FGF1, AND PHOSPHORYLATION.
DOI=10.1038/31741; PubMed=9655399 [NCBI, ExPASy, EBI, Israel, Japan]
DiGabriele A.D.,
Lax I.,
Chen D.I.,
Svahn C.M.,
Jaye M.,
Schlessinger J.,
Hendrickson W.A.;
"Structure of a heparin-linked biologically active dimer of fibroblast growth factor.";
Nature 393:812-817(1998).
|
[18]
|
CHROMOSOMAL TRANSLOCATION WITH FGFR1OP.
PubMed=9949182 [NCBI, ExPASy, EBI, Israel, Japan]
Popovici C.,
Zhang B.,
Gregoire M.-J.,
Jonveaux P.,
Lafage-Pochitaloff M.,
Birnbaum D.,
Pebusque M.-J.;
"The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1.";
Blood 93:1381-1389(1999).
|
[19]
|
CHROMOSOMAL TRANSLOCATION WITH CEP110.
PubMed=10688839 [NCBI, ExPASy, EBI, Israel, Japan]
Guasch G.,
Mack G.J.,
Popovici C.,
Dastugue N.,
Birnbaum D.,
Rattner J.B.,
Pebusque M.-J.;
"FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33).";
Blood 95:1788-1796(2000).
|
[20]
|
INTERACTION WITH SHB, AND MUTAGENESIS OF TYR-766.
DOI=10.1091/mbc.E02-02-0103; PubMed=12181353 [NCBI, ExPASy, EBI, Israel, Japan]
Cross M.J.,
Lu L.,
Magnusson P.,
Nyqvist D.,
Holmqvist K.,
Welsh M.,
Claesson-Welsh L.;
"The Shb adaptor protein binds to tyrosine 766 in the FGFR-1 and regulates the Ras/MEK/MAPK pathway via FRS2 phosphorylation in endothelial cells.";
Mol. Biol. Cell 13:2881-2893(2002).
|
[21]
|
CHROMOSOMAL TRANSLOCATION WITH FGFR1OP2.
DOI=10.1002/gcc.20023; PubMed=15034873 [NCBI, ExPASy, EBI, Israel, Japan]
Grand E.K.,
Grand F.H.,
Chase A.J.,
Ross F.M.,
Corcoran M.M.,
Oscier D.G.,
Cross N.C.P.;
"Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome.";
Genes Chromosomes Cancer 40:78-83(2004).
|
[22]
|
GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-296, 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).
|
[23]
|
CHROMOSOMAL TRANSLOCATION WITH FGFR1OP2.
DOI=10.1182/blood-2006-06-026666; PubMed=16946300 [NCBI, ExPASy, EBI, Israel, Japan]
Gu T.-L.,
Goss V.L.,
Reeves C.,
Popova L.,
Nardone J.,
Macneill J.,
Walters D.K.,
Wang Y.,
Rush J.,
Comb M.J.,
Druker B.J.,
Polakiewicz R.D.;
"Phosphotyrosine profiling identifies the KG-1 cell line as a model for the study of FGFR1 fusions in acute myeloid leukemia.";
Blood 108:4202-4204(2006).
|
[24]
|
CHROMOSOMAL TRANSLOCATION WITH FGFR1OP2.
DOI=10.1182/blood-2006-12-065615; PubMed=17389761 [NCBI, ExPASy, EBI, Israel, Japan]
Dong S.,
Kang S.,
Gu T.,
Kardar S.,
Fu H.,
Lonial S.,
Khoury H.J.,
Khuri F.,
Chen J.;
"14-3-3 integrates pro-survival signals mediated by the AKT and MAPK pathways in ZNF198-FGFR1 transformed hematopoietic cells.";
Blood 110:360-369(2007).
|
[25]
|
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-653, AND MASS SPECTROMETRY.
DOI=10.1016/j.cell.2007.11.025; PubMed=18083107 [NCBI, ExPASy, EBI, Israel, Japan]
Rikova K.,
Guo A.,
Zeng Q.,
Possemato A.,
Yu J.,
Haack H.,
Nardone J.,
Lee K.,
Reeves C.,
Li Y.,
Hu Y.,
Tan Z.,
Stokes M.,
Sullivan L.,
Mitchell J.,
Wetzel R.,
Macneill J.,
Ren J.M.,
Yuan J., ![]()
Bakalarski C.E.,
Villen J.,
Kornhauser J.M.,
Smith B.,
Li D.,
Zhou X.,
Gygi S.P.,
Gu T.-L.,
Polakiewicz R.D.,
Rush J.,
Comb M.J.;
"Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.";
Cell 131:1190-1203(2007).
|
[26]
|
X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 464-762.
DOI=10.1016/S0092-8674(00)80131-2; PubMed=8752212 [NCBI, ExPASy, EBI, Israel, Japan]
Mohammadi M.,
Schlessinger J.,
Hubbard S.R.;
"Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism.";
Cell 86:577-587(1996).
|
[27]
|
X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 464-762.
DOI=10.1126/science.276.5314.955; PubMed=9139660 [NCBI, ExPASy, EBI, Israel, Japan]
Mohammadi M.,
McMahon G.,
Sun L.,
Tang C.,
Hirth P.,
Yeh B.K.,
Hubbard S.R.,
Schlessinger J.;
"Structures of the tyrosine kinase domain of fibroblast growth factor receptor in complex with inhibitors.";
Science 276:955-960(1997).
|
[28]
|
X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 141-364 IN COMPLEX WITH FGF1.
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).
|
[29]
|
X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 143-364 IN COMPLEX WITH FGF2 AND HEPARIN.
DOI=10.1016/S1097-2765(00)00073-3; PubMed=11030354 [NCBI, ExPASy, EBI, Israel, Japan]
Schlessinger J.,
Plotnikov A.N.,
Ibrahimi O.A.,
Eliseenkova A.V.,
Yeh B.K.,
Yayon A.,
Linhardt R.J.,
Mohammadi M.;
"Crystal structure of a ternary FGF-FGFR-heparin complex reveals a dual role for heparin in FGFR binding and dimerization.";
Mol. Cell 6:743-750(2000).
|
[30]
|
STRUCTURE BY NMR OF 38-124.
RIKEN structural genomics initiative (RSGI);
"Solution structure of the first Ig-like domain of human fibroblast growth factor receptor 1.";
Submitted (NOV-2005) to the PDB data bank.
|
[31]
|
VARIANT PS ARG-252.
DOI=10.1038/ng1194-269; PubMed=7874169 [NCBI, ExPASy, EBI, Israel, Japan]
Muenke M.,
Schell U.,
Hehr A.,
Robin N.H.,
Losken H.W.,
Schinzel A.,
Pulleyn L.J.,
Rutland P.,
Reardon W.,
Malcolm S.,
Winter R.M.;
"A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.";
Nat. Genet. 8:269-274(1994).
|
[32]
|
VARIANT NON-SYNDROMIC TRIGONOCEPHALY THR-300.
PubMed=11173846 [NCBI, ExPASy, EBI, Israel, Japan]
Kress W.,
Petersen B.,
Collmann H.,
Grimm T.;
"An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly.";
Cytogenet. Cell Genet. 91:138-140(2000).
|
[33]
|
VARIANTS KAL2 ASP-97; CYS-99; SER-167; TYR-277; MET-607; ARG-666; ARG-719 AND SER-772.
DOI=10.1038/ng1122; PubMed=12627230 [NCBI, ExPASy, EBI, Israel, Japan]
Dode C.,
Levilliers J.,
Dupont J.-M.,
De Paepe A.,
Le Du N.,
Soussi-Yanicostas N.,
Coimbra R.S.,
Delmaghani S.,
Compain-Nouaille S.,
Baverel F.,
Pecheux C.,
Le Tessier D.,
Cruaud C.,
Delpech M.,
Speleman F.,
Vermeulen S.,
Amalfitano A.,
Bachelot Y.,
Bouchard P., ![]()
Cabrol S.,
Carel J.-C.,
Delemarre-van de Waal H.,
Goulet-Salmon B.,
Kottler M.-L.,
Richard O.,
Sanchez-Franco F.,
Saura R.,
Young J.,
Petit C.,
Hardelin J.-P.;
"Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.";
Nat. Genet. 33:463-465(2003).
|
[34]
|
VARIANT KAL2 SER-745.
DOI=10.1210/jc.2003-030476; PubMed=15001591 [NCBI, ExPASy, EBI, Israel, Japan]
Sato N.,
Katsumata N.,
Kagami M.,
Hasegawa T.,
Hori N.,
Kawakita S.,
Minowada S.,
Shimotsuka A.,
Shishiba Y.,
Yokozawa M.,
Yasuda T.,
Nagasaki K.,
Hasegawa D.,
Hasegawa Y.,
Tachibana K.,
Naiki Y.,
Horikawa R.,
Tanaka T.,
Ogata T.;
"Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.";
J. Clin. Endocrinol. Metab. 89:1079-1088(2004).
|
[35]
|
VARIANTS OGD ILE-330; CYS-374 AND ARG-381, AND CHARACTERIZATION OF VARIANT OGD CYS-374.
DOI=10.1086/427956; PubMed=15625620 [NCBI, ExPASy, EBI, Israel, Japan]
White K.E.,
Cabral J.M.,
Davis S.I.,
Fishburn T.,
Evans W.E.,
Ichikawa S.,
Fields J.,
Yu X.,
Shaw N.J.,
McLellan N.J.,
McKeown C.,
FitzPatrick D.,
Yu K.,
Ornitz D.M.,
Econs M.J.;
"Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.";
Am. J. Hum. Genet. 76:361-367(2005).
|
[36]
|
VARIANTS KAL2 ILE-102; ALA-129; MET-273 AND THR-520.
DOI=10.1002/humu.9298; PubMed=15605412 [NCBI, ExPASy, EBI, Israel, Japan]
Albuisson J.,
Pecheux C.,
Carel J.-C.,
Lacombe D.,
Leheup B.,
Lapuzina P.,
Bouchard P.,
Legius E.,
Matthijs G.,
Wasniewska M.,
Delpech M.,
Young J.,
Hardelin J.-P.,
Dode C.;
"Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).";
Hum. Mutat. 25:98-99(2005).
|
[37]
|
VARIANTS KAL2 ARG-687 AND SER-745.
DOI=10.1093/humrep/dei052; PubMed=15845591 [NCBI, ExPASy, EBI, Israel, Japan]
Sato N.,
Hasegawa T.,
Hori N.,
Fukami M.,
Yoshimura Y.,
Ogata T.;
"Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report.";
Hum. Reprod. 20:2173-2178(2005).
|
[38]
|
VARIANTS OGD ILE-330 AND ARG-381.
DOI=10.1002/ajmg.a.31106; PubMed=16470795 [NCBI, ExPASy, EBI, Israel, Japan]
Farrow E.G.,
Davis S.I.,
Mooney S.D.,
Beighton P.,
Mascarenhas L.,
Gutierrez Y.R.,
Pitukcheewanont P.,
White K.E.;
"Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.";
Am. J. Med. Genet. A 140:537-539(2006).
|
[39]
|
VARIANT IHH SER-48, VARIANT IHH/KAL2 LEU-366, AND VARIANTS KAL2 PRO-245; TRP-250; VAL-343; SER-722 AND ILE-795.
DOI=10.1210/jc.2005-2793; PubMed=16882753 [NCBI, ExPASy, EBI, Israel, Japan]
Trarbach E.B.,
Costa E.M.F.,
Versiani B.,
de Castro M.,
Baptista M.T.M.,
Garmes H.M.,
de Mendonca B.B.,
Latronico A.C.;
"Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.";
J. Clin. Endocrinol. Metab. 91:4006-4012(2006).
|
[40]
|
VARIANTS KAL2 CYS-78; ILE-102; HIS-224; ASP-237; GLN-254; MET-273; GLY-274 CYS-339; CYS-346; VAL-538; ARG-703 AND SER-703, AND VARIANT VAL-769.
DOI=10.1016/j.mce.2006.04.021; PubMed=16764984 [NCBI, ExPASy, EBI, Israel, Japan]
Pitteloud N.,
Meysing A.,
Quinton R.,
Acierno J.S. Jr.,
Dwyer A.A.,
Plummer L.,
Fliers E.,
Boepple P.,
Hayes F.,
Seminara S.,
Hughes V.A.,
Ma J.,
Bouloux P.,
Mohammadi M.,
Crowley W.F. Jr.;
"Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.";
Mol. Cell. Endocrinol. 254:60-69(2006).
|
[41]
|
VARIANTS KAL2 SER-178; GLY-622 AND GLN-622.
DOI=10.1016/j.mce.2006.04.006; PubMed=16757108 [NCBI, ExPASy, EBI, Israel, Japan]
Zenaty D.,
Bretones P.,
Lambe C.,
Guemas I.,
David M.,
Leger J.,
de Roux N.;
"Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).";
Mol. Cell. Endocrinol. 254:78-83(2006).
|
[42]
|
VARIANT IHH/KAL2 SER-237, VARIANTS IHH HIS-722 AND LYS-724, CHARACTERIZATION OF VARIANT IHH/KAL2 SER-237, AND CHARACTERIZATION OF VARIANTS IHH HIS-722 AND LYS-724.
DOI=10.1073/pnas.0600962103; PubMed=16606836 [NCBI, ExPASy, EBI, Israel, Japan]
Pitteloud N.,
Acierno J.S. Jr.,
Meysing A.,
Eliseenkova A.V.,
Ma J.,
Ibrahimi O.A.,
Metzger D.L.,
Hayes F.J.,
Dwyer A.A.,
Hughes V.A.,
Yialamas M.,
Hall J.E.,
Grant E.,
Mohammadi M.,
Crowley W.F. Jr.;
"Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.";
Proc. Natl. Acad. Sci. U.S.A. 103:6281-6286(2006).
|
[43]
|
VARIANTS KAL2 PHE-101; TRP-250; ASP-270; ARG-283; CYS-332; ARG-621; PHE-685; PHE-693 AND SER-772, AND VARIANTS LYS-77 AND CYS-822.
DOI=10.1002/humu.9470; PubMed=17154279 [NCBI, ExPASy, EBI, Israel, Japan]
Dode C.,
Fouveaut C.,
Mortier G.,
Janssens S.,
Bertherat J.,
Mahoudeau J.,
Kottler M.-L.,
Chabrolle C.,
Gancel A.,
Francois I.,
Devriendt K.,
Wolczynski S.,
Pugeat M.,
Pineiro-Garcia A.,
Murat A.,
Bouchard P.,
Young J.,
Delpech M.,
Hardelin J.-P.;
"Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.";
Hum. Mutat. 28:97-98(2007).
|
[44]
|
VARIANTS [LARGE SCALE ANALYSIS] LEU-125; THR-252 AND LEU-664.
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).
|
|
ExPASy Home page