Fibroblasten-Wachstumsfaktor-Rezeptor 1

Welm BE et al. (2002) Inducible dimerization of FGFR1: development of a mouse model to analyze progressive transformation of the mammary gland.

Siffroi-Fernandez S et al. (2005) Acidic fibroblast growth factor (FGF-1) and FGF receptor 1 signaling in human Y79 retinoblastoma.

None (2004) Common and distinct elements in cellular signaling via EGF and FGF receptors.

Bruno IG et al. (2004) Correction of aberrant FGFR1 alternative RNA splicing through targeting of intronic regulatory elements.

Grand EK et al. (2004) Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome.

Dell'Era P et al. (2003) Fibroblast growth factor receptor-1 is essential for in vitro cardiomyocyte development.

Trokovic N et al. (2003) Fgfr1 regulates patterning of the pharyngeal region.

Wilkie AO et al. (2002) FGFs, their receptors, and human limb malformations: clinical and molecular correlations.

Pirvola U et al. (2002) FGFR1 is required for the development of the auditory sensory epithelium.

Kim HG et al. (2005) Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.

Demiroglu A et al. (2001) The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins.

Sohal J et al. (2001) Identification of four new translocations involving FGFR1 in myeloid disorders.

Wilkie AO et al. (2001) Genetics of craniofacial development and malformation.

Kress W et al. (2000) An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly.

Zhou YX et al. (2000) A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures.

Roscioli T et al. (2000) Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

Plotnikov AN et al. (2000) Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity.

Neugebauer JM et al. (2009) FGF signalling during embryo development regulates cilia length in diverse epithelia.

Ding BS et al. (2014) Divergent angiocrine signals from vascular niche balance liver regeneration and fibrosis.

Simonis N et al. (2013) FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.

Miraoui H et al. (2013) Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

Hanchate NK et al. (2012) SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

Tornberg J et al. (2011) Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.

Calvert JA et al. (2011) A missense mutation in Fgfr1 causes ear and skull defects in hush puppy mice.

Raivio T et al. (2009) Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.

Vilain C et al. (2009) Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review.

Huang N et al. (2005) Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

Magnusson PU et al. (2007) FGFR-1 regulates angiogenesis through cytokines interleukin-4 and pleiotrophin.

Pitteloud N et al. (2007) Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.

Xu N et al. (2007) A mutation in the fibroblast growth factor receptor 1 gene causes fully penetrant normosmic isolated hypogonadotropic hypogonadism.

Pitteloud N et al. (2006) Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.

Furdui CM et al. (2006) Autophosphorylation of FGFR1 kinase is mediated by a sequential and precisely ordered reaction.

Sato N et al. (2006) Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son.

Rand V et al. (2005) Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas.

Falardeau J et al. (2008) Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.

Farrow EG et al. (2006) Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.

White KE et al. (2005) Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.

Riminucci M et al. (2003) FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting.

Beighton P et al. (1980) Osteoglophonic dwarfism.

Urakawa I et al. (2006) Klotho converts canonical FGF receptor into a specific receptor for FGF23.

Trarbach EB et al. (2006) Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.

Dodé C et al. (2003) Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

Jones DT et al. (2013) Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.

Guasch G et al. (2000) FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33).

Jung J et al. (1999) Initiation of mammalian liver development from endoderm by fibroblast growth factors.

Riley BM et al. (2007) Impaired FGF signaling contributes to cleft lip and palate.

Ibrahimi OA et al. (2004) Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity.

Passos-Bueno MR et al. (1999) Clinical spectrum of fibroblast growth factor receptor mutations.

Chesi M et al. (1997) Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3.

Singh D et al. (2012) Transforming fusions of FGFR and TACC genes in human glioblastoma.

Hurley ME et al. (2004) Antley-Bixler syndrome with radioulnar synostosis.

Ruta M et al. (1989) Receptor for acidic fibroblast growth factor is related to the tyrosine kinase encoded by the fms-like gene (FLG).

Seminara SB et al. (2000) Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations.

Plotnikov AN et al. (1999) Structural basis for FGF receptor dimerization and activation.

Popovici C et al. (1999) The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1.

Kulkarni S et al. (1999) The genomic structure of ZNF198 and location of breakpoints in the t(8;13) myeloproliferative syndrome.

Partanen J et al. (1998) Opposite phenotypes of hypomorphic and Y766 phosphorylation site mutations reveal a function for Fgfr1 in anteroposterior patterning of mouse embryos.

Popovici C et al. (1998) Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13).

Twigg SR et al. (1998) Conserved use of a non-canonical 5' splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3.

Xiao S et al. (1998) FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome.

Lorenzi MV et al. (1996) FRAG1, a gene that potently activates fibroblast growth factor receptor by C-terminal fusion through chromosomal rearrangement.

Wang LY et al. (1996) A natural kinase-deficient variant of fibroblast growth factor receptor 1.

Robin NH et al. (1994) Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity.

Muenke M et al. (1994) A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.

Wood S et al. (1995) Sequence identity locates CEBPD and FGFR1 to mapped human loci within proximal 8p.

White BJ et al. (1983) The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review.

Lee PL et al. (1989) Purification and complementary DNA cloning of a receptor for basic fibroblast growth factor.

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