| 1 | ATCAD2, FGF14
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| An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14
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| Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ.
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| Am J Hum Genet. Jan 5;110(1):105-119. doi: 10.1016/j.ajhg.2022.11.015. Epub 2022 Dec 8. 2023
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| 2 | ATCAD2, FGF14
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| Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
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| Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivičre R, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tétreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dubé MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B.
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| N Engl J Med. Jan 12;388(2):128-141. doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14. 2023
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| 3 | FGF14
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| Genomic relevance of FGF14 and associated genes on the prognosis of pancreatic cancer
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| Raja A, Malik MFA, Haq F.
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| PLoS One. Jun 1;16(6):e0252344. doi: 10.1371/journal.pone.0252344. 2021
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| 4 | FGF14
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| FGF14 Functions as a Tumor Suppressor through Inhibiting PI3K/AKT/mTOR Pathway in Colorectal Cancer
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| Su T, Huang L, Zhang N, Peng S, Li X, Wei G, Zhai E, Zeng Z, Xu L.
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| J Cancer. Jan 1;11(4):819-825. doi: 10.7150/jca.36316. 2020
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| 5 | FGF14
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| A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study
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| Strupp M, Maul S, Konte B, Hartmann AM, Giegling I, Wollenteit S, Feil K, Rujescu D.
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| Cerebellum. Jun;19(3):348-357. doi: 10.1007/s12311-020-01113-x. 2020
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| 6 | FGF14, SCABG
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| Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14.
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| Miura S, Kosaka K, Fujioka R, Uchiyama Y, Shimojo T, Morikawa T, Irie A, Taniwaki T, Shibata H.
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| Eur J Med Genet. Mar;62(3):172-176. doi: 10.1016/j.ejmg.2018.07.005. Epub 2018 Jul 11. 2019
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| 7 | FGF14
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| FGF14 is a regulator of KCNQ2/3 channels
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| Pablo JL, Pitt GS.
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| Proc Natl Acad Sci U S A. Jan 3;114(1):154-159. doi: 10.1073/pnas.1610158114. Epub 2016 Dec 19. 2017
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| 8 | FGF13, FGF14
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| Polarized localization of voltage-gated Na+ channels is regulated by concerted FGF13 and FGF14 action.
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| Pablo JL, Wang C, Presby MM, Pitt GS.
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| Proc Natl Acad Sci U S A 113(19):E2665-74. doi: 10.1073/pnas.1521194113. Epub 2016 Apr 4.
2016
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| 9 | FGF14, SCN8A
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| Identification of Amino Acid Residues in Fibroblast Growth Factor 14 (FGF14) Required for Structure-Function Interactions with Voltage-gated Sodium Channel Nav1.6.
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| Ali SR, Singh AK, Laezza F.
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| J Biol Chem 291(21):11268-84. doi: 10.1074/jbc.M115.703868. Epub 2016 Mar 18.
2016
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| 10 | FGF14, SCA27
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| A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene.
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| Coebergh JA, Fransen van de Putte DE, Snoeck IN, Ruivenkamp C, van Haeringen A, Smit LM.
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| Eur J Paediatr Neurol 18(3):413-5. doi: 10.1016/j.ejpn.2013.10.006. Epub 2013 Nov 5.
2014
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| 11 | FGF14
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| FGF14 localization and organization of the axon initial segment.
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| Xiao M, Bosch MK, Nerbonne JM, Ornitz DM.
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| Mol Cell Neurosci 56:393-403. doi: 10.1016/j.mcn.2013.07.008. Epub 2013 Jul 26.
2013
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| 12 | FGF14, SCA27
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| FGF14 regulates presynaptic Ca2+ channels and synaptic transmission.
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| Yan H, Pablo JL, Pitt GS.
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| Cell Rep 4(1):66-75. doi: 10.1016/j.celrep.2013.06.012. Epub 2013 Jul 3.
2013
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| 13 | FGF14
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| The fibroblast growth factor 14ˇvoltage-gated sodium channel complex is a new target of glycogen synthase kinase 3 (GSK3).
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| Shavkunov AS, Wildburger NC, Nenov MN, James TF, Buzhdygan TP, Panova-Elektronova NI, Green TA, Veselenak RL, Bourne N, Laezza F.
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| J Biol Chem 288(27):19370-85. doi: 10.1074/jbc.M112.445924. Epub 2013 May 2.
2013
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| 14 | FGF11, FGF12, FGF13, FGF14
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| Fibroblast growth factor homologous factors modulate cardiac calcium channels.
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| Hennessey JA, Wei EQ, Pitt GS.
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| Circ Res. Aug 2;113(4):381-8. doi: 10.1161/CIRCRESAHA.113.301215. Epub 2013 Jun 26. 2013
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| 15 | FGF14, SCA27
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| Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia.
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| Shimojima K, Okumura A, Natsume J, Aiba K, Kurahashi H, Kubota T, Yokochi K, Yamamoto T.
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| Brain Dev 34(3):230-3. doi: 10.1016/j.braindev.2011.04.014. Epub 2011 May 19.
2012
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| 16 | FGF11, FGF12, FGF13, FGF14
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| Fibroblast growth factor homologous factors in the heart: a potential locus for cardiac arrhythmias.
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| Wei EQ, Barnett AS, Pitt GS, Hennessey JA.
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| Trends Cardiovasc Med. Oct;21(7):199-203. doi: 10.1016/j.tcm.2012.05.010. Erratum in: Trends Cardiovasc Med. 2012 May;22(4):111. 2011
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| 17 | FGF14
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| FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels.
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| Laezza F, Lampert A, Kozel MA, Gerber BR, Rush AM, Nerbonne JM, Waxman SG, Dib-Hajj SD, Ornitz DM.
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| Mol Cell Neurosci 42(2):90-101. doi: 10.1016/j.mcn.2009.05.007. Epub 2009 May 22.
2009
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| 18 | FGF14
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| FGF14 regulates the intrinsic excitability of cerebellar Purkinje neurons.
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| Shakkottai VG, Xiao M, Xu L, Wong M, Nerbonne JM, Ornitz DM, Yamada KA.
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| Neurobiol Dis 33(1):81-8. doi: 10.1016/j.nbd.2008.09.019. Epub 2008 Oct 1.
2009
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| 19 | FGF14
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| Impaired spatial learning and defective theta burst induced LTP in mice lacking fibroblast growth factor 14.
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| Wozniak DF, Xiao M, Xu L, Yamada KA, Ornitz DM.
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| Neurobiol Dis 26(1):14-26. Epub 2007 Jan 19.
2007
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| 20 | FGF14, SCABG
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| Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.
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| Dalski A, Atici J, Kreuz FR, Hellenbroich Y, Schwinger E, Zuhlke C.
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| Eur J Hum Genet 13(1):118-20. 2005
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| 21 | FGF1, FGF2, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGF10, FGF11, FGF12, FGF13, FGF14, FGF16, FGF17, FGF18, FGF19, FGF20, FGF21, FGF22, FGF23
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| Evolution of the Fgf and Fgfr gene families.
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| Itoh N, Ornitz DM.
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| Trends Genet 20(11):563-9. 2004
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| 22 | FGF14, SCABG
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| A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia.
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| van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R, de Koning I, Maat-Kievit A, Leegwater P, Dooijes D, Oostra BA, Heutink P.
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| Am J Hum Genet 72(1):191-9. 2003
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| 23 | FGF14, SCABG
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| A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].
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| van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R, de Koning I, Maat-Kievit A, Leegwater P, Dooijes D, Oostra BA, Heutink P.
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| Am J Hum Genet 72(1):191-9. Epub 2002 Dec 13. Erratum in: Am J Hum Genet. 2003 Apr;72(4):1078. 2003
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| 24 | FGF11, FGF12, FGF13, FGF14
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| Fibroblast growth factor (FGF) homologous factors : new members of the FGF family implicated in nervous system development.
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| Smallwood PM, et al.
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| Proc Natl Acad Sci U S A 93 : 9850-9857. 1996
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