Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Fibroblasten-Wachstumsfaktor-Rezeptor 3

Das FGFR3-Gen kodiert ein FGF-Rezeptor. Mutationen diese Gens führen zu verschiedenen Dysmorphie Syndromen wie zum Beispiel Achondroplasie und Crouzon-Syndrom.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Thanatophore Dysplasie 2
FGFR3
Thanatophore Dysplasie 1
FGFR3
Achondroplasie
FGFR3
Crouzon-Syndrom
FGFR3
Muenke-Syndrom
FGFR3

Referenzen:

1.

Thompson LM et. al. (1991) A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.

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2.

Keegan K et. al. (1991) Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3.

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3.

None (1988) Bone dysplasia 'families'.

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4.

McKusick VA et. al. (1973) Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.

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5.

Meyers GA et. al. (1995) Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.

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6.

Scotet E et. al. (1995) The choice between alternative IIIb and IIIc exons of the FGFR-3 gene is not strictly tissue-specific.

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7.

Rousseau F et. al. (1995) Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.

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8.

Ikegawa S et. al. (1995) Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients.

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9.

Bellus GA et. al. (1995) A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.

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10.

Superti-Furga A et. al. (1995) A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.

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11.

Tavormina PL et. al. (1995) Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

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12.

Bellus GA et. al. (1995) Achondroplasia is defined by recurrent G380R mutations of FGFR3.

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13.

Shiang R et. al. (1994) Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.

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14.

Avraham KB et. al. (1994) Mapping of murine fibroblast growth factor receptors refines regions of homology between mouse and human chromosomes.

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15.

Rousseau F et. al. (1994) Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.

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16.

Prinos P et. al. (1995) A common FGFR3 gene mutation in hypochondroplasia.

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17.

Tavormina PL et. al. (1995) Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.

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18.

Nishimura G et. al. (1995) Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375)

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19.

Deng C et. al. (1996) Fibroblast growth factor receptor 3 is a negative regulator of bone growth.

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20.

Colvin JS et. al. (1996) Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.

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21.

Naski MC et. al. (1996) Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.

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22.

Moloney DM et. al. (1996) Exclusive paternal origin of new mutations in Apert syndrome.

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23.

von Gernet S et. al. (1996) Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p.

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24.

Bellus GA et. al. (1996) Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.

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25.

Rousseau F et. al. (1996) Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

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26.

Pokharel RK et. al. (1996) Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene.

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27.

Bergsagel PL et. al. (1996) Promiscuous translocations into immunoglobulin heavy chain switch regions in multiple myeloma.

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28.

Muenke M et. al. (1997) A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

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29.

Su WC et. al. (1997) Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism.

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30.

Moloney DM et. al. (1997) Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.

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31.

Perez-Castro AV et. al. (1997) Genomic organization of the human fibroblast growth factor receptor 3 (FGFR3) gene and comparative sequence analysis with the mouse Fgfr3 gene.

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32.

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.

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33.

Reardon W et. al. (1997) Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.

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34.

Golla A et. al. (1997) Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

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35.

None (1997) Craniosynostosis: genes and mechanisms.

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36.

Lanning RW et. al. (1997) An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia.

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37.

Prinster C et. al. (1998) Comparison of clinical-radiological and molecular findings in hypochondroplasia.

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38.

Deutz-Terlouw PP et. al. (1998) Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.

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39.

Hollway GE et. al. (1998) Deafness due to Pro250Arg mutation of FGFR3.

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40.

Gripp KW et. al. (1998) Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.

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41.

Paznekas WA et. al. (1998) Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

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42.

Graham JM et. al. (1998) Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.

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43.

Ramaswami U et. al. (1998) Genotype and phenotype in hypochondroplasia.

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44.

Wilcox WR et. al. (1998) Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

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45.

Naski MC et. al. (1998) Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3.

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46.

Angle B et. al. (1998) Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association.

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47.

Brodie SG et. al. (1998) Thanatophoric dysplasia type I with syndactyly.

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48.

Robin NH et. al. (1998) Nonpenetrance in FGFR3-associated coronal synostosis syndrome.

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49.

Li C et. al. (1999) A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors.

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50.

Lajeunie E et. al. (1999) Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.

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51.

Tavormina PL et. al. (1999) A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

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52.

Sawai H et. al. (1999) Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results.

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53.

El Ghouzzi V et. al. (1999) Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.

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54.

Grigelioniené G et. al. (1998) A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.

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55.

Huggins MJ et. al. (1999) Achondroplasia-hypochondroplasia complex in a newborn infant.

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56.

Chitayat D et. al. (1999) Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.

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57.

Brodie SG et. al. (1999) Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.

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58.

Tsai FJ et. al. (1999) Identification of a common N540K mutation in 8/18 Taiwanese hypochondroplasia patients: further evidence for genetic heterogeneity.

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59.

Fofanova OV et. al. (1998) A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia.

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60.

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

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61.

Cappellen D et. al. (1999) Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.

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62.

Tsai FJ et. al. (1999) Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data.

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63.

Chen L et. al. (1999) Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.

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64.

Monsonego-Ornan E et. al. (2000) The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation.

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65.

Henderson JE et. al. (2000) Expression of FGFR3 with the G380R achondroplasia mutation inhibits proliferation and maturation of CFK2 chondrocytic cells.

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66.

Kitoh H et. al. (1998) Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.

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67.

Mortier G et. al. (2000) Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

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68.

Iwata T et. al. (2000) A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos.

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69.

Saito H et. al. (2000) Prenatal DNA diagnosis of a single-gene disorder from maternal plasma.

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70.

Bellus GA et. al. (2000) Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

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71.

Shimizu A et. al. (2001) A novel alternatively spliced fibroblast growth factor receptor 3 isoform lacking the acid box domain is expressed during chondrogenic differentiation of ATDC5 cells.

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72.

Chen L et. al. (2001) A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia.

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73.

Henderson S et. al. (2000) Germline and somatic mosaicism in achondroplasia.

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74.

Sobetzko D et. al. (2000) Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.

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75.

Sibley K et. al. (2001) Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma.

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76.

Jang JH et. al. (2001) Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers.

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77.

Iwata T et. al. (2001) Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice.

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78.

Roscioli T et. al. (2001) Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3.

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79.

Karoui M et. al. (2001) No evidence of somatic FGFR3 mutation in various types of carcinoma.

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80.

Intini D et. al. (2001) Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14).

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81.

Kimura T et. al. (2001) The incidence of thanatophoric dysplasia mutations in FGFR3 gene is higher in low-grade or superficial bladder carcinomas.

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82.

Lowry RB et. al. (2001) Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.

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83.

Shimizu A et. al. (2002) FGFR3 isoforms have distinct functions in the regulation of growth and cell morphology.

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84.

None (2002) Identification and characterization of soluble isoform of fibroblast growth factor receptor 3 in human SaOS-2 osteosarcoma cells.

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85.

Rasmussen T et. al. (2002) FGFR3 dysregulation in multiple myeloma: frequency and prognostic relevance.

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86.

Lievens PM et. al. (2003) The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum.

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87.

Thauvin-Robinet C et. al. (2003) Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

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88.

Hyland VJ et. al. (2003) Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.

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89.

Lin T et. al. (2003) A central nervous system specific mouse model for thanatophoric dysplasia type II.

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90.

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.

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91.

Valverde-Franco G et. al. (2004) Defective bone mineralization and osteopenia in young adult FGFR3-/- mice.

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92.

Cho JY et. al. (2004) Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia.

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93.

Yasoda A et. al. (2004) Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway.

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94.

Su YN et. al. (2004) Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis.

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95.

Rannan-Eliya SV et. al. (2004) Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.

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96.

Van Esch H et. al. (2004) Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3.

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97.

Logié A et. al. (2005) Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans.

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98.

Davidson D et. al. (2005) Fibroblast growth factor (FGF) 18 signals through FGF receptor 3 to promote chondrogenesis.

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99.

Nowroozi N et. al. (2005) Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells.

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100.

Rump P et. al. (2006) Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele.

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101.

Rohmann E et. al. (2006) Mutations in different components of FGF signaling in LADD syndrome.

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102.

Li D et. al. (2006) Thanatophoric dysplasia type 2 with encephalocele during the second trimester.

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103.

Wyrobek AJ et. al. (2006) Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm.

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104.

Hafner C et. al. (2006) Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.

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105.

Heuertz S et. al. (2006) Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

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106.

Toydemir RM et. al. (2006) A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.

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107.

Eswarakumar VP et. al. (2007) Skeletal overgrowth is mediated by deficiency in a specific isoform of fibroblast growth factor receptor 3.

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108.

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

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109.

Wilkie AO et. al. (2007) Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

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110.

Friez MJ et. al. (2008) Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al.

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111.

Arnaud-López L et. al. (2007) Crouzon with acanthosis nigricans. Further delineation of the syndrome.

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112.

Leroy JG et. al. (2007) Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.

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113.

Zankl A et. al. (2008) Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.

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114.

Natacci F et. al. (2008) Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs.

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115.

García-Vargas A et. al. (2008) An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation.

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116.

Mansour SL et. al. (2009) Hearing loss in a mouse model of Muenke syndrome.

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117.

Matsushita T et. al. (2009) FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway.

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118.

Almeida MR et. al. (2009) Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.

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119.

Salazar L et. al. (2009) A novel interaction between fibroblast growth factor receptor 3 and the p85 subunit of phosphoinositide 3-kinase: activation-dependent regulation of ERK by p85 in multiple myeloma cells.

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120.

Pannier S et. al. (2009) Thanatophoric dysplasia caused by double missense FGFR3 mutations.

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121.

Goriely A et. al. (2009) Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

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122.

Su N et. al. (2010) Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis.

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123.

He L et. al. (2010) Physical basis behind achondroplasia, the most common form of human dwarfism.

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124.

He L et. al. (2011) FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism.

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125.

Barroso E et. al. (2011) Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.

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126.

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

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127.

Jacky BP et. al. (2013) Identification of fibroblast growth factor receptor 3 (FGFR3) as a protein receptor for botulinum neurotoxin serotype A (BoNT/A).

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128.

Wang H et. al. (2013) A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing.

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129.

Makrythanasis P et. al. (2014) A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.

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130.

Yamashita A et. al. (2014) Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.

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