1 | CFEOM3A, TUBB3
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| TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
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| Whitman MC, Barry BJ, Robson CD, Facio FM, Van Ryzin C, Chan WM, Lehky TJ, Thurm A, Zalewski C, King KA, Brewer C, Almpani K, Lee JS, Delaney A, FitzGibbon EJ, Lee PR, Toro C, Paul SM, Abdul-Rahman OA, Webb BD, Jabs EW, Moller HU, Larsen DA, Antony JH, Troedson C, Ma A, Ragnhild G, Wirgenes KV, Tham E, Kvarnung M, Maarup TJ, MacKinnon S, Hunter DG, Collins FS, Manoli I, Engle EC.
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| Hum Genet. Dec;140(12):1709-1731. doi: 10.1007/s00439-021-02379-9. Epub 2021 Oct 15. 2021
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2 | PMGAD, TUBB3
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| Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features
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| Blumkin L, Leibovitz Z, Krajden-Haratz K, Arad A, Yosovich K, Gindes L, Zerem A, Ben-Sira L, Lev D, Nissenkorn A, Kidron D, Dobyns WB, Malinger G, Bahi-Buisson N, Leventer RJ, Lerman-Sagie T.
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| Eur J Paediatr Neurol. May;26:46-60. doi: 10.1016/j.ejpn.2020.03.001. Epub 2020 Mar 4. 2020
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3 | NTN1, TUBB3, UNC5C
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| Disease-associated mutations in human TUBB3 disturb netrin repulsive signaling.
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| Shao Q, Yang T, Huang H, Majumder T, Khot BA, Khouzani MM, Alarmanazi F, Gore YK, Liu G.
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| PLoS One. Jun 21;14(6):e0218811. doi: 10.1371/journal.pone.0218811. 2019
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4 | RILPL2, TUBB3
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| RILPL2 regulates breast cancer proliferation, metastasis, and chemoresistance via the TUBB3/PTEN pathway
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| Chen G, Sun L, Han J, Shi S, Dai Y, Liu W.
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| Am J Cancer Res Aug 1;9(8):1583-1606 2019
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5 | CLDN11, TUBA1B, TUBB3
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| Inactivation of the tight junction gene CLDN11 by aberrant hypermethylation modulates tubulins polymerization and promotes cell migration in nasopharyngeal carcinoma
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| Li HP, Peng CC, Wu CC, Chen CH, Shih MJ, Huang MY, Lai YR, Chen YL, Chen TW, Tang P, Chang YS, Chang KP, Hsu CL.
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| J Exp Clin Cancer Res. May 10;37(1):102. doi: 10.1186/s13046-018-0754-y. 2018
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6 | DCC, NTN1, TUBB3
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| Human TUBB3 Mutations Disrupt Netrin Attractive Signaling
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| Huang H, Yang T, Shao Q, Majumder T, Mell K, Liu G.
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| Neuroscience. Mar 15;374:155-171. doi: 10.1016/j.neuroscience.2018.01.046. Epub 2018 Jan 31. 2018
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7 | TUBB3
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| Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration.
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| Latremoliere A, Cheng L, DeLisle M, Wu C, Chew S, Hutchinson EB, Sheridan A, Alexandre C, Latremoliere F, Sheu SH, Golidy S, Omura T, Huebner EA, Fan Y, Whitman MC, Nguyen E, Hermawan C, Pierpaoli C, Tischfield MA, Woolf CJ, Engle EC.
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| Cell Rep. Aug 14;24(7):1865-1879.e9. doi: 10.1016/j.celrep.2018.07.029. 2018
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8 | NTN1, TUBB3, UNC5C
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| Uncoupling of UNC5C with Polymerized TUBB3 in Microtubules Mediates Netrin-1 Repulsion.
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| Shao Q, Yang T, Huang H, Alarmanazi F, Liu G.
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| J Neurosci. Jun 7;37(23):5620-5633. doi: 10.1523/JNEUROSCI.2617-16.2017. Epub 2017 May 8. 2017
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9 | CIT, TUBB3
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| Tissue-specific control of midbody microtubule stability by Citron kinase through modulation of TUBB3 phosphorylation
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| Sgrò F, Bianchi FT, Falcone M, Pallavicini G, Gai M, Chiotto AM, Berto GE, Turco E, Chang YJ, Huttner WB, Di Cunto F.
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| Cell Death Differ. May;23(5):801-13. doi: 10.1038/cdd.2015.142. Epub 2015 Nov 20 2016
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10 | TUBB3
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| TUBB3/βIII-tubulin acts through the PTEN/AKT signaling axis to promote tumorigenesis and anoikis resistance in non-small cell lung cancer
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| McCarroll JA, Gan PP, Erlich RB, Liu M, Dwarte T, Sagnella SS, Akerfeldt MC, Yang L, Parker AL, Chang MH, Shum MS, Byrne FL, Kavallaris M.
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| Cancer Res. Jan 15;75(2):415-25. doi: 10.1158/0008-5472.CAN-14-2740. Epub 2014 Nov 20. 2015
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11 | TUBB3
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| Direct binding of TUBB3 with DCC couples netrin-1 signaling to intracellular microtubule dynamics in axon outgrowth and guidance
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| Qu C, Dwyer T, Shao Q, Yang T, Huang H, Liu G.
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| J Cell Sci. Jul 15;126(Pt 14):3070-81. doi: 10.1242/jcs.122184. Epub 2013 May 2. 2013
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12 | MC1R, POMC, TUBB3
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| Alpha-MSH regulates intergenic splicing of MC1R and TUBB3 in human melanocytes.
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| Dalziel M, Kolesnichenko M, das Neves RP, Iborra F, Goding C, Furger A.
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| Nucleic Acids Res 39(6):2378-92. doi: 10.1093/nar/gkq1125. Epub 2010 Nov 11.
2011
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13 | FEOM3, TUBB3
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| Magnetic Resonance Imaging Evidence Of an Asymmetrical Endophenotype in Congenital Fibrosis of Extraocular Muscles Type 3 Resulting from TUBB3 Mutations.
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| Demer JL, Clark R, Tischfield MA, Engle EC.
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| Invest Ophthalmol Vis Sci nvest Ophthalmol Vis Sci. 2010 Apr 14. [Epub ahead of print]PMID: 20393110 2010
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14 | TUBB, TUBB1, TUBB2A, TUBB2B, TUBB3, TUBB4A
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| Tumoral and tissue-specific expression of the major human beta-tubulin isotypes.
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| Leandro-García LJ, Leskelä S, Landa I, Montero-Conde C, López-Jiménez E, Letón R, Cascón A, Robledo M, Rodríguez-Antona C.
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| Cytoskeleton (Hoboken) 67(4):214-23.PMID: 20191564 2010
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15 | FEOM3, TUBB3
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| Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
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| Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcátegui CE, de Uzcátegui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Møller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC.
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| Cell 140(1):74-87.PMID: 20074521 2010
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16 | TUBB3
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| Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations.
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| Demer JL, Clark RA, Tischfield MA, Engle EC.
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| Invest Ophthalmol Vis Sci. 51(9):4600-11. 2010
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17 | PMGAD, TUBB3
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| Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
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| Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, Encha-Razavi F, Chelly J.
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| Hum Mol Genet 19(22):4462-73. Epub 2010 Sep 9.
2010
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18 | TUBB3
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| Proteomic characterization of cytoskeletal and mitochondrial class III beta-tubulin.
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| Cicchillitti L, Penci R, Di Michele M, Filippetti F, Rotilio D, Donati MB, Scambia G, Ferlini C.
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| Mol Cancer Ther 7(7):2070-9.PMID: 18645017 2008
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19 | TUBB3, TUBB6
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| Expression profiling reveals dysregulation of cellular cytoskeletal genes in HBx-induced hepatocarcinogenesis.
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| Sun Q, Wang Y, Zhang Y, Liu F, Cheng X, Hou N, Zhao X, Yang X.
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| Cancer Biol Ther 6(5):668-74. Epub 2007 Feb 3.PMID: 17873514 2007
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20 | TUBB3
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| Class III beta-tubulin overexpression is a prominent mechanism of paclitaxel resistance in ovarian cancer patients.
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| Mozzetti S, Ferlini C, Concolino P, Filippetti F, Raspaglio G, Prislei S, Gallo D, Martinelli E, Ranelletti FO, Ferrandina G, Scambia G.
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| Clin Cancer Res 11(1):298-305. 2005
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21 | TUBB3
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| Expression of class III beta-tubulin reduces microtubule assembly and confers resistance to paclitaxel.
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| Hari M, Yang H, Zeng C, Canizales M, Cabral F.
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| Cell Motil Cytoskeleton 56(1):45-56. 2003
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22 | TUBA1C, TUBB1, TUBB3, TUBB4A
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| HIV-1 Tat targets microtubules to induce apoptosis, a process promoted by the pro-apoptotic Bcl-2 relative Bim.
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| Chen D, Wang M, Zhou S, Zhou Q.
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| EMBO J 21(24):6801-10. 2002
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23 | TUBB3
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| Cloning and sequencing of human betaIII-tubulin cDNA: induction of betaIII isotype in human prostate carcinoma cells by acute exposure to antimicrotubule agents.
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| Ranganathan S, Dexter DW, Benetatos CA, Hudes GR.
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| Biochim Biophys Acta 1395(2):237-45. 1998
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24 | TUBB3
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| Identification of new human receptor and transporter genes by high throughput cDNA (EST) sequencing.
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| Venter JC.
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| J Pharm Pharmacol 45 Suppl 1:355-60. Review. No abstract available. 1993
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25 | TUBB3
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| Differential distribution of beta-tubulin isotypes in cerebellum.
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| Burgoyne RD, Cambray-Deakin MA, Lewis SA, Sarkar S, Cowan NJ.
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| EMBO J 7(8):2311-9. 1988
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