Citations for
1ECCL, FGFR1
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJ, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RC, Chung B, Lehman A, Su J, Ng S, Amor DJ; University of Washington Center for Mendelian Genomics; Care4Rare Canada Consortium, Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM.
Am J Hum Genet 98(3):579-87. doi: 10.1016/j.ajhg.2016.02.006. 2016
2FGF21, FGFR1, MAP3K4
MEKK4 Signaling Regulates Sensory Cell Development and Function in the Mouse Inner Ear.
Haque K, Pandey AK, Zheng HW, Riazuddin S, Sha SH, Puligilla C.
J Neurosci 36(4):1347-61. doi: 10.1523/JNEUROSCI.1853-15.2016. 2016
3FGFR1, FGFR2
Mesenchymal fibroblast growth factor receptor signaling regulates palatal shelf elevation during secondary palate formation.
Yu K, Karuppaiah K, Ornitz DM.
Dev Dyn 244(11):1427-38. doi: 10.1002/dvdy.24319. Epub 2015 Aug 24. 2015
4DNM2, FGF1, FGF21, FGFR1
FGF21 promotes endothelial cell angiogenesis through a dynamin-2 and Rab5 dependent pathway.
Yaqoob U, Jagavelu K, Shergill U, de Assuncao T, Cao S, Shah VH.
PLoS One 9(5):e98130. doi: 10.1371/journal.pone.0098130. 2014
5FGFR1, RPS6KA3
RSK2 regulates endocytosis of FGF receptor 1 by phosphorylation on serine 789.
Nadratowska-Wesolowska B, Haugsten EM, Zakrzewska M, Jakimowicz P, Zhen Y, Pajdzik D, Wesche J, Wiedlocha A.
Oncogene 33(40):4823-36. doi: 10.1038/onc.2013.425. Epub 2013 Oct 21. 2014
6CRS7A, CRS7C, FGFR1, FGFR2
FGFR1 and FGFR2 Mutations in Pfeiffer Syndrome.
Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V.
J Craniofac Surg 24(1):150-2. doi: 10.1097/SCS.0b013e3182646454. 2013
7FGFR1
NMR backbone assignments of the tyrosine kinase domain of human fibroblast growth factor receptor 1.
Vajpai N, Schott AK, Vogtherr M, Breeze AL.
Biomol NMR Assign iomol NMR Assign. 2013 Jan 17. [Epub ahead of print] 2013
8FGFR1
A rare case report of 8p11 myeloid and lymphoid neoplasm with FGFR1 abnormality in a young adult.
Shaaban H, Dabu J, Al-Rabi K, Gauchan D, Guron G.
Ann Hematol 92(2):285-6. doi: 10.1007/s00277-012-1562-7. Epub 2012 Sep 2. No abstract available. 2013
9FGFR1, FGFR3
Fibroblast growth factor receptors-1 and -3 play distinct roles in the regulation of bladder cancer growth and metastasis: implications for therapeutic targeting.
Cheng T, Roth B, Choi W, Black PC, Dinney C, McConkey DJ.
PLoS One 8(2):e57284. doi: 10.1371/journal.pone.0057284. Epub 2013 Feb 26. 2013
10FGFR1, NTRK2, QKI
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.
Jones DT, Hutter B, Jäger N, Korshunov A, Kool M, Warnatz HJ, Zichner T, Lambert SR, Ryzhova M, Quang DA, Fontebasso AM, Stütz AM, Hutter S, Zuckermann M, Sturm D, Gronych J, Lasitschka B, Schmidt S, Seker-Cin H, Witt H, Sultan M, Ralser M, Northcott PA, Hovestadt V, Bender S, Pfaff E, Stark S, Faury D, Schwartzentruber J, Majewski J, Weber UD, Zapatka M, Raeder B, Schlesner M, Worth CL, Bartholomae CC, von Kalle C, Imbusch CD, Radomski S, Lawerenz C, van Sluis P, Koster J, Volckmann R, Versteeg R, Lehrach H, Monoranu C, Winkler B, Unterberg A, Herold-Mende C, Milde T, Kulozik AE, Ebinger M, Schuhmann MU, Cho YJ, Pomeroy SL, von Deimling A, Witt O, Taylor MD, Wolf S, Karajannis MA, Eberhart CG, Scheurlen W, Hasselblatt M, Ligon KL, Kieran MW, Korbel JO, Yaspo ML, Brors B, Felsberg J, Reifenberger G, Collins VP, Jabado N, Eils R, Lichter P, Pfister SM; International Cancer Genome Consortium PedBrain Tumor Project.
Nat Genet 45(8):927-32. doi: 10.1038/ng.2682. Epub 2013 Jun 30. 2013
11FGFR1, HRTFDS
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B, Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G, Abramowicz M, Smits G, Vilain C.
J Med Genet 50(9):585-92. doi: 10.1136/jmedgenet-2013-101603. Epub 2013 Jun 28. 2013
12FGFR1, GPNMB
GPNMB enhances bone regeneration by promoting angiogenesis and osteogenesis: potential role for tissue engineering bone.
Hu X, Zhang P, Xu Z, Chen H, Xie X.
J Cell Biochem 114(12):2729-37. doi: 10.1002/jcb.24621. 2013
13FGFR1, LRIT3
Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1.
Kim SD, Liu JL, Roscioli T, Buckley MF, Yagnik G, Boyadjiev SA, Kim J.
FEBS Lett 586(10):1516-21. doi: 10.1016/j.febslet.2012.04.010. Epub 2012 Apr 20. 2012
14FGFR1
Differential roles of fibroblast growth factor receptors (FGFR) 1, 2 and 3 in the regulation of S115 breast cancer cell growth.
Tarkkonen KM, Nilsson EM, Kähkönen TE, Dey JH, Heikkilä JE, Tuomela JM, Liu Q, Hynes NE, Härkönen PL.
PLoS One 7(11):e49970. doi: 10.1371/journal.pone.0049970. Epub 2012 Nov 21. 2012
15FGFR1, KAL2
Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome.
Jarzabek K, Wolczynski S, Lesniewicz R, Plessis G, Kottler M.
Adv Med Sci 57(2):314-21. doi: 10.2478/v10039-012-0036-4. 2012
16FGFR1
FGFR1 amplification and the progression of non-invasive to invasive breast cancer.
Gru AA, Allred DC.
Breast Cancer Res 14(6):116. [Epub ahead of print] 2012
17FGFR1
FGFR1 is amplified during the progression of in situ to invasive breast carcinoma.
Jang MH, Kim EJ, Choi Y, Lee HE, Kim YJ, Kim JH, Kang E, Kim SW, Kim IA, Park SY.
Breast Cancer Res 14(4):R115. [Epub ahead of print] 2012
18F2R, FGFR1
Characterization of PAR1 and FGFR1 expression in invasive breast carcinomas: Prognostic significance.
Tiburcio M, Costa SM, DE Fatima Duarte M, Schmitt FC, Longatto Filho A.
Oncol Lett 4(4):647-657. Epub 2012 Jul 17. 2012
19FGFR1, SDC4
Syndecan 4 regulates FGFR1 signaling in endothelial cells by directing macropinocytosis.
Elfenbein A, Lanahan A, Zhou TX, Yamasaki A, Tkachenko E, Matsuda M, Simons M.
Sci Signal 5(223):ra36. doi: 10.1126/scisignal.2002495. 2012
20FGFR1
Fibroblast growth factor 1 (FGFR1) modulation regulates repair capacity of oligodendrocyte progenitor cells following chronic demyelination.
Zhou YX, Pannu R, Le TQ, Armstrong RC.
Neurobiol Dis 45(1):196-205. doi: 10.1016/j.nbd.2011.08.004. Epub 2011 Aug 10. 2012
21FGFR1, PARK7
DJ-1 promotes angiogenesis and osteogenesis by activating FGF receptor-1 signaling.
Kim JM, Shin HI, Cha SS, Lee CS, Hong BS, Lim S, Jang HJ, Kim J, Yang YR, Kim YH, Yun S, Rijal G, Lee-Kwon W, Seo JK, Gho YS, Ryu SH, Hur EM, Suh PG.
Nat Commun 3:1296. doi: 10.1038/ncomms2313. 2012
22FGF21, FGFR1, FGFR3, MAPK3
Fibroblast growth factor 21 (FGF21) inhibits chondrocyte function and growth hormone action directly at the growth plate.
Wu S, Levenson A, Kharitonenkov A, De Luca F.
J Biol Chem 287(31):26060-7. doi: 10.1074/jbc.M112.343707. Epub 2012 Jun 13. 2012
23FGFR1, FGFR3, TACC1, TACC3
Transforming fusions of FGFR and TACC genes in human glioblastoma.
Singh D, Chan JM, Zoppoli P, Niola F, Sullivan R, Castano A, Liu EM, Reichel J, Porrati P, Pellegatta S, Qiu K, Gao Z, Ceccarelli M, Riccardi R, Brat DJ, Guha A, Aldape K, Golfinos JG, Zagzag D, Mikkelsen T, Finocchiaro G, Lasorella A, Rabadan R, Iavarone A.
Science 337(6099):1231-5. doi: 10.1126/science.1220834. 2012
24FGFR1, GZMB
FGFR1 cleavage and nuclear translocation regulates breast cancer cell behavior.
Chioni AM, Grose R.
J Cell Biol 197(6):801-17. doi: 10.1083/jcb.201108077. Epub 2012 Jun 4. 2012
25FGFR1, TPR
Identification of a novel partner gene, TPR, fused to FGFR1 in 8p11 myeloproliferative syndrome.
Li F, Zhai YP, Tang YM, Wang LP, Wan PJ.
Genes Chromosomes Cancer 51(9):890-7. doi: 10.1002/gcc.21973. Epub 2012 May 23. 2012
26FGFR1
Agonist-induced formation of FGFR1 homodimers and signaling differ among members of the FGF family.
Romero-Fernandez W, Borroto-Escuela DO, Tarakanov AO, Mudó G, Narvaez M, Pérez-Alea M, Agnati LF, Ciruela F, Belluardo N, Fuxe K.
Biochem Biophys Res Commun 409(4):764-8. Epub 2011 May 20. 2011
27FGFR1, NEDD4
Nedd4-1 binds and ubiquitylates activated FGFR1 to control its endocytosis and function.
Persaud A, Alberts P, Hayes M, Guettler S, Clarke I, Sicheri F, Dirks P, Ciruna B, Rotin D.
EMBO J 30(16):3259-73. doi: 10.1038/emboj.2011.234. 2011
28FGFR1, FGFR2, FGFR3
Fibroblast growth factor signaling is required for the generation of oligodendrocyte progenitors from the embryonic forebrain.
Furusho M, Kaga Y, Ishii A, Hébert JM, Bansal R.
J Neurosci 31(13):5055-66. doi: 10.1523/JNEUROSCI.4800-10.2011. 2011
29FGFR1, FGFR2
Overexpression of fibroblast growth factor receptors FGFR1 and FGFR2 in renal cell carcinoma.
Tsimafeyeu I, Demidov L, Stepanova E, Wynn N, Ta H.
Scand J Urol Nephrol 45(3):190-5. doi: 10.3109/00365599.2011.552436. Epub 2011 Feb 18. 2011
30FGFR1, FGFR2
Fgfr1 and the IIIc isoform of Fgfr2 play critical roles in the metanephric mesenchyme mediating early inductive events in kidney development.
Sims-Lucas S, Cusack B, Baust J, Eswarakumar VP, Masatoshi H, Takeuchi A, Bates CM.
Dev Dyn 240(1):240-9. doi: 10.1002/dvdy.22501. 2011
31FGFR1
Inhibition of fibroblast growth factor receptor 1 endocytosis promotes axonal branching of adult sensory neurons.
Hausott B, Rietzler A, Vallant N, Auer M, Haller I, Perkhofer S, Klimaschewski L.
Neuroscience 188:13-22. doi: 10.1016/j.neuroscience.2011.04.064. Epub 2011 May 7. 2011
32FGFR1, FGFR3
Clathrin- and dynamin-independent endocytosis of FGFR3--implications for signalling.
Haugsten EM, Zakrzewska M, Brech A, Pust S, Olsnes S, Sandvig K, Wesche J.
PLoS One 6(7):e21708. doi: 10.1371/journal.pone.0021708. Epub 2011 Jul 14. 2011
33FGF8, FGFR1, KAL6, NIHH
Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.
Trarbach EB, Abreu AP, Silveira LF, Garmes HM, Baptista MT, Teles MG, Costa EM, Mohammadi M, Pitteloud N, Mendonca BB, Latronico AC.
J Clin Endocrinol Metab 95(7):3491-6. Epub 2010 May 12. 2010
34CDH7, FGF8, FGFR1, GNRHR, IHH1, IHH2GNRH1, KAL1, KAL1, KAL2, KAL3, KAL4, KISS1R, PCC, PROK2, PROKR2, TAC3, TACR3
Genetics basis for GnRH-dependent pubertal disorders in humans.
Silveira LF, Trarbach EB, Latronico AC.
Mol Cell Endocrinol 324(1-2):30-8. Epub 2010 Feb 25. Review.PMID: 20188792 2010
35FGFR1, OGD
Osteoglophonic dysplasia: A 'common' mutation in a rare disease.
Sow AJ, Ramli R, Latiff ZA, Ichikawa S, Gray AK, Nordin R, Abd Jabar MN, Primuharsa Putra SH, Siar CH, Econs MJ.
Clin Genet 78(2):197-8. Epub 2010 Mar 5. No abstract available. PMID: 20236123 2010
36FGFR1, GRB14, PLCG1
Grb14 inhibits FGF receptor signaling through the regulation of PLCγ recruitment and activation.
Browaeys-Poly E, Blanquart C, Perdereau D, Antoine AF, Goenaga D, Luzy JP, Chen H, Garbay C, Issad T, Cailliau K, Burnol AF.
FEBS Lett 584(21):4383-8. Epub 2010 Oct 8. 2010
37FGFR1, FLRT1, FLRT2, FLRT3
Critical role of FLRT1 phosphorylation in the interdependent regulation of FLRT1 function and FGF receptor signalling.
Wheldon LM, Haines BP, Rajappa R, Mason I, Rigby PW, Heath JK.
PLoS One 5(4):e10264. 2010
38FGFR1, RAF1, SOS1
Decreased expression of FGFR1, SOS1, RAF1 genes in cryptorchidism.
Hadziselimovic NO, de Geyter Ch, Demougin P, Oakeley EJ, Hadziselimovic F.
Urol Int 84(3):353-61. doi: 10.1159/000288242. Epub 2010 Apr 13. 2010
39CRKL, FGFR1
Structural and functional basis of a role for CRKL in a fibroblast growth factor 8-induced feed-forward loop.
Seo JH, Suenaga A, Hatakeyama M, Taiji M, Imamoto A.
Mol Cell Biol 29(11):3076-87. Epub 2009 Mar 23. 2009
40FGFR1, FRS2, MTOR
FGFR1 forms an FRS2-dependent complex with mTOR to regulate smooth muscle marker gene expression.
Chen PY, Friesel R.
Biochem Biophys Res Commun 382(2):424-9. Epub 2009 Mar 13. 2009
41E2F1, FGFR1
Transcriptional regulation of human fibroblast growth factor receptor 1 by E2F-1.
Kanai M, Tashiro E, Maruki H, Minato Y, Imoto M.
Gene 438(1-2):49-56. Epub 2009 Mar 19. 2009
42FGFR1, NFASC
Analysis of non-canonical fibroblast growth factor receptor 1 (FGFR1) interaction reveals regulatory and activating domains of neurofascin.
Kirschbaum K, Kriebel M, Kranz EU, Pötz O, Volkmer H.
J Biol Chem 284(42):28533-42. Epub 2009 Aug 7.PMID: 19666467 2009
43FGFR1, HRTFDS
Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review.
Vilain C, Mortier G, Van Vliet G, Dubourg C, Heinrichs C, de Silva D, Verloes A, Baumann C.
Am J Med Genet A 149A(7):1476-81. doi: 10.1002/ajmg.a.32678. Review. 2009
44OFC6, IRF6, FGFR1, MSX1
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation.
Osoegawa K, Vessere GM, Utami KH, Mansilla MA, Johnson MK, Riley BM, L'Heureux J, Pfundt R, Staaf J, van der Vliet WA, Lidral AC, Schoenmakers EF, Borg A, Schutte BC, Lammer EJ, Murray JC, de Jong PJ.
J Med Genet 45(2):81-6. Epub 2007 Sep 14. 2008
45KAL2, KAL1, FGFR1
Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations.
Salenave S, Chanson P, Bry H, Pugeat M, Cabrol S, Carel JC, Murat A, Lecomte P, Brailly S, Hardelin JP, DodŽ C, Young J.
J Clin Endocrinol Metab 93(3):758-63. Epub 2007 Dec 26. 2008
46EFNB1, FGFR1, FGFR2, FGFR3, MSX2, RAB23, TWIST1
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Passos-Bueno MR, Serti Eacute AE, Jehee FS, Fanganiello R, Yeh E.
Front Oral Biol 12:107-43. Review. 2008
47FGF8, FGFR1, KAL2, KAL4
Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons.
Chung WC, Moyle SS, Tsai PS.
Endocrinology 149(10):4997-5003. Epub 2008 Jun 19. 2008
48ABL1, CPSF6, FGFR1, SFPQ
The t(1;9)(p34;q34) and t(8;12)(p11;q15) fuse pre-mRNA processing proteins SFPQ (PSF) and CPSF6 to ABL and FGFR1.
Hidalgo-Curtis C, Chase A, Drachenberg M, Roberts MW, Finkelstein JZ, Mould S, Oscier D, Cross NC, Grand FH.
Genes Chromosomes Cancer 47(5):379-85.PMID: 18205209 2008
49FGFR1, SCLLS, ZMYM2
The 8p11 myeloproliferative syndrome: review of literature and an illustrative case report.
Goradia A, Bayerl M, Cornfield D.
Int J Clin Exp Pathol 1(5):448-56.PMID: 18787627 2008
50FGFR1, NIHH
A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism.
Xu N, Qin Y, Reindollar RH, Tho SP, McDonough PG, Layman LC.
J Clin Endocrinol Metab 92(3):1155-8. Epub 2007 Jan 2. 2007
51SP1, FGFR1
Sp1 is required for transcriptional activation of the fibroblast growth factor receptor 1 gene in neonatal cardiomyocytes.
Seyed M, Dimario JX.
Gene 400(1-2):150-7. Epub 2007 Jun 19. 2007
52FGFR1
FGFR1 over-expression in primary rhabdomyosarcoma tumors is associated with hypomethylation of a 5' CpG island and abnormal expression of the AKT1, NOG, and BMP4 genes.
Goldstein M, Meller I, Orr-Urtreger A.
Genes Chromosomes Cancer 46(11):1028-38. 2007
53FGF2, FGFR1, IQGAP1, WASL
IQGAP1 regulates cell motility by linking growth factor signaling to actin assembly.
Benseñor LB, Kan HM, Wang N, Wallrabe H, Davidson LA, Cai Y, Schafer DA, Bloom GS.
J Cell Sci 120(Pt 4):658-69. Epub 2007 Jan 30. 2007
54FGFR1
FGFR-1 regulates angiogenesis through cytokines interleukin-4 and pleiotrophin.
Magnusson PU, Dimberg A, Mellberg S, Lukinius A, Claesson-Welsh L.
Blood 110(13):4214-22. Epub 2007 Sep 17.PMID: 17875810 2007
55FGFR1, OGD
Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.
Farrow EG, Davis SI, Mooney SD, Beighton P, Mascarenhas L, Gutierrez YR, Pitukcheewanont P, White KE.
Am J Med Genet A 140(5):537-9. No abstract available. 2006
56NIHH, FGFR1
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
Pitteloud N, Acierno JS Jr, Meysing A, Eliseenkova AV, Ma J, Ibrahimi OA, Metzger DL, Hayes FJ, Dwyer AA, Hughes VA, Yialamas M, Hall JE, Grant E, Mohammadi M, Crowley WF Jr.
Proc Natl Acad Sci U S A 103(16):6281-6. Epub 2006 Apr 10. 2006
57FGFR1, KAL2
Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son.
Sato N, Ohyama K, Fukami M, Okada M, Ogata T.
J Clin Endocrinol Metab 91(4):1415-8. Epub 2006 Jan 17. 2006
58FGFR1, KAL2
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Pitteloud N, Meysing A, Quinton R, Acierno JS Jr, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S, Hughes VA, Ma J, Bouloux P, Mohammadi M, Crowley WF Jr.
Mol Cell Endocrinol 254-255:60-9. Epub 2006 Jun 9. 2006
59FGFR1, KAL2
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).
Zenaty D, Bretones P, Lambe C, Guemas I, David M, LŽger J, de Roux N.
Mol Cell Endocrinol 254-255:78-83. Epub 2006 Jun 6. 2006
60CEP110, FGFR1
A biphenotypic transformation of 8p11 myeloproliferative syndrome with CEP1/FGFR1 fusion gene.
Yamamoto K, Kawano H, Nishikawa S, Yakushijin K, Okamura A, Matsui T.
Eur J Haematol 77(4):349-54. Epub 2006 Jul 27. 2006
61FGFR1, NIHH
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.
Trarbach EB, Costa EM, Versiani B, de Castro M, Baptista MT, Garmes HM, de Mendonca BB, Latronico AC.
J Clin Endocrinol Metab 91(10):4006-12. Epub 2006 Aug 1. Erratum in: J Clin Endocrinol Metab. 2008 May;93(5):2013. 2006
62FGFR1, OGD
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.
White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, McKeown C, Fitzpatrick D, Yu K, Ornitz DM, Econs MJ.
Am J Hum Genet 76(2):361-7. Epub 2004 Dec 28. 2005
63FGFR1, TRIM24
8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes.
Belloni E, Trubia M, Gasparini P, Micucci C, Tapinassi C, Confalonieri S, Nuciforo P, Martino B, Lo-Coco F, Pelicci PG, Di Fiore PP.
Genes Chromosomes Cancer 42(3):320-5. 2005
64FGFR1, TWIST1
Linkage disequilibrium analysis identifies an FGFR1 haplotype-tag SNP associated with normal variation in craniofacial shape.
Coussens AK, van Daal A.
Genomics 85(5):563-73. 2005
65ANK1, DEL8PP, FGFR1, KAL2, SPH1
New case of contiguous gene syndrome at chromosome 8p11.2p12.
Cau M, Congiu R, Origa R, Galanello R, Melis MA, Nucaro AL.
Am J Med Genet A 136A(2):221-222. 2005
66FGFR1, TNS3
Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.
Kim HG, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF.
J Med Genet 42(8):666-72. No abstract available. 2005
67FGFR1,FGFR2
The fibroblast growth factor receptors, FGFR-1 and FGFR-2, mediate two independent signalling pathways in human retinal pigment epithelial cells.
Rosenthal R, Malek G, Salomon N, Peill-Meininghaus M, Coeppicus L, Wohlleben H, Wimmers S, Bowes Rickman C, Strauss O.
Biochem Biophys Res Commun 337(1):241-7. 2005
68FGFR1, FGFR3, CRS10, CRS7A
Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity.
Ibrahimi OA, Zhang F, Eliseenkova AV, Linhardt RJ, Mohammadi M.
Hum Mol Genet 13(1):69-78. Epub 2003 Nov 12. 2004
69FGFR1
Correction of aberrant FGFR1 alternative RNA splicing through targeting of intronic regulatory elements.
Bruno IG, Jin W, Cote GJ.
Hum Mol Genet 13(21):2725. No abstract available. 2004
70FGFR1
Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays.
Johnson JM, Castle J, Garrett-Engele P, Kan Z, Loerch PM, Armour CD, Santos R, Schadt EE, Stoughton R, Shoemaker DD.
Science 302(5653):2141-4. 2003
71ANK1, DEL8PP, FGFR1, KAL2, SPH1
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, 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 JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP.
Nat Genet 33(4):463-5. Epub 2003 Mar 10. 2003
72FGFR1
The 8p11 myeloproliferative syndrome: a distinct clinical entity caused by constitutive activation of FGFR1.
Macdonald D, Reiter A, Cross NC.
Acta Haematol 107(2):101-7. Review. 2002
73FGFR1, FGFR2, FGFR3, MSX2, TWIST1
Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2.
Passos-Bueno MR, Armelin LM, Alonso LG, Neustein I, Sertie AL, Abe K, Pavanello Rde C, Elkis LC, Koiffmann CP.
Am J Med Genet 2002
74FGFR1
Fibroblast growth factor receptor-1 is expressed by endothelial progenitor cells.
Burger PE, Coetzee S, McKeehan WL, Kan M, Cook P, Fan Y, Suda T, Hebbel RP, Novitzky N, Muller WA, Wilson EL.
Blood 100(10):3527-35. 2002
75FGFR1
Identification of four new translocations involving FGFR1 in myeloid disorders.
Sohal J, Chase A, Mould S, Corcoran M, Oscier D, Iqbal S, Parker S, Welborn J, Harris RI, Martinelli G, Montefusco V, Sinclair P, Wilkins BS, van Den Berg H, Vanstraelen D, Goldman JM, Cross NC.
Genes Chromosomes Cancer 32(2):155-63. 2001
76BCR, FGFR1
Fusion of the BCR and the fibroblast growth factor receptor-I (FGFRI) genes as a result of t(8;22)(p11;q11) in a myeloproliferative disorder : the first fusion gene involving BCR but not ABL.
Fioretos T, Panagopoulos J, Lassen C, Swedin A, Billstršm R, Isaksson M, Stršmbeck B, Olofsson T, Mitelman F, Johansson B.
Genes Chromosomes Cancer 32 : 302-310. 2001
77 FGFR1
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
Roscioli T, Flanagan S, Kumar P, Masel J, Gattas M, Hyland VJ, Glass IA.
Am J Med Genet 93(1):22-8. Review. 2000
78CEP110 , FGFR1
FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33).
Guasch G, Mack GJ, Popovici C, Dastugue N, Birnbaum D, Rattner JB, Pebusque MJ.
Blood 95(5):1788-96. 2000
79FGFR1, SCLLS, ZMYM2
The genomic structure of ZNF198 and location of breakpoints in the t(8;13) myeloproliferative syndrome.
Kulkarni S, et al.
Genomics 55 : 118-121. 1999
80FGFR1, SFRP1
Differential expression assay of chromosome arm 8p genes identifies Frizzled-related (FRP1/FRZB) and Fibroblast Growth Factor Receptor 1 (FGFR1) as candidate breast cancer genes.
Ugolini F, et al.
Oncogene 18(10):1903-10. 1999
81FGFR1, FGFR2, FGFR3
Clinical spectrum of fibroblast growth factor receptor mutations.
Passos-Bueno MR, et al.
Hum Mutat 14(2):115-25. 1999
82ACS1, ACS3, CRS10, CRS11, DEL7P21, CRS5A, CRS5B, CRS6, CRS7B, CRS8, BSCGS1, CRSCNS, FGFR1, FGFR2, FGFR3, MSX2, SADDAN, TWIST1
Craniosynostosis Syndromes: From Genes to Premature Fusion of Skull Bones.
Hehr U, et al.
Mol Genet Metab 68(2):139-151. No abstract available 1999
83FGFR1, SCLLS, ZMYM2
FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome.
Xiao S, Nalabolu SR, Aster JC, Ma J, Abruzzo L, Jaffe ES, Stone R, Weissman SM, Hudson TJ, Fletcher JA.
Nat Genet 18(1):84-7. 1998
84FGFR1, SCLLS, ZMYM2
The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP.
Smedley D, et al.
Hum Mol Genet 7 : 637-642. 1998
85FGFR1, FGFR2, FGFR3
Conserved use of a non-canonical 5' splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3.
Twigg SRF, et al.
Hum Mol Genet 7 : 685-691. 1998
86FGFR1, SCLLS, ZMYM2
Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13)(p12;q12).
Popovici C, et al.
Proc Natl Acad Sci U S A 95 : 5712-5717. 1998
87FGFR1, SCLLS, ZMYM2
t(6;8), t(8;9) and t(8;13) translocations associated with stem cell myeloproliferative disorders have close or identical breakpoints in chromosome region 8p11-12.
Chaffanet M, et al.
Oncogene 16 : 945-949. 1998
88FGFR1, SCLLS, ZMYM2
Consistent fusion of ZNF198 to the fibroblast growth factor receptor-1 in the t(8;13)(p11;q12) myeloproliferative syndrome.
Reiter A, Sohal J, Kulkarni S, Chase A, Macdonald DH, Aguiar RC, Goncalves C, Hernandez JM, Jennings BA, Goldman JM, Cross NC.
Blood 92 : 1735-1742. 1998
89GTF2E2, NRG1, NEFL, FGFR1, POLB, PPP2CB, WRN
Integrated map of the chromosome 8p12-p21 region, a region involved in human cancers and Werner syndrome.
Imbert A, et al.
Genomics 32 : 29-38. 1996
90FGFR1
Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism.
Mohammadi M, et al.
Cell 86 : 577-587. 1996
91CRS7A, CRS7B, FGFR1, FGFR2, FGFR3
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.
Bellus GA, et al.
Nat Genet 14 : 174-176. 1996
92FGFR1
Identification of six novel autophosphorylation sites on fibroblast growth factor receptor 1 and elucidation of their importance in receptor activation and signal transduction.
Mohammadi M, Dikic I, Sorokin A, Burgess WH, Jaye M, Schlessinger J.
Mol Cell Biol 16(3):977-89. 1996
93CRS7A, CRS7B, FGFR1, FGFR2
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
Schell U, et al.
Hum Mol Genet 4 : 323-328. 1995
94CEBPD, FGFR1
Sequence identity locates CEBPD and FGFR1 to mapped human loci within proximal 8p.
Wood S, et al.
Cytogenet Cell Genet 70 : 188-191. 1995
95FGFR1
Dinucleotide repeat polymorphism at the FGFR1 gene.
Yu CE, et al.
Hum Mol Genet 3 : 212. 1994
96CRS7A, FGFR1
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
Muenke M, et al.
Nat Genet 8 : 269-274. 1994
97FGFR1, FGFR2
Differential expression of two fibroblast growth factor-receptor genes is associated with malignant progression in human astrocytomas.
Yamaguchi F, et al.
Proc Natl Acad Sci U S A 91 : 484-488. 1994
98FGFR1, FGFR2
Expression of basic fibroblast growth factor, FGFR1 and FGFR2 in normal and malignant human breast, and comparison with other normal tissues.
Luqmani YA, et al.
Br J Cancer 66 : 273-280. 1992
99FGFR1
Differential splicing in the extracellular region of fibroblast growth factor receptor 1 generates receptor variants with different ligand-binding specificities.
Werner S, Duan DS, de Vries C, Peters KG, Johnson DE, Williams LT.
Mol Cell Biol 12(1):82-8. 1992
100FGFR1
BEK and FLG, two receptors to members of FGF family, are amplified in subsets of human breast cancers.
Adnane J, et al.
Oncogene 6 : 659-663. 1991
101FGFR1
The human fibroblast growth factor receptor genes: a common structural arrangement underlies the mechanisms for generating receptor forms that differ in their third immunoglobulin domain.
Johnson DE, Lu J, Chen H, Werner S, Williams LT.
Mol Cell Biol 11(9):4627-34. 1991
102FGFR1
Alternative splicing generates at least five different isoforms of the human basic-FGF receptor.
Eisemann A, Ahn JA, Graziani G, Tronick SR, Ron D.
Oncogene 6(7):1195-202. Erratum in: Oncogene 1991 Dec;6(12):2379. 1991
103FGFR1
A novel protein tyrosine kinase gene whose expression is modulated during endothelial cell differentiation.
Ruta M, et al.
Oncogene 3 : 9-15. 1988