| 1 | ELP1, HSAN3
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| ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.
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| Morini E, Gao D, Montgomery CM, Salani M, Mazzasette C, Krussig TA, Swain B, Dietrich P, Narasimhan J, Gabbeta V, Dakka A, Hedrick J, Zhao X, Weetall M, Naryshkin NA, Wojtkiewicz GG, Ko CP, Talkowski ME, Dragatsis I, Slaugenhaupt SA.
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| Am J Hum Genet 104(4):638-650. doi: 10.1016/j.ajhg.2019.02.009. Epub 2019 Mar 21. 2019
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| 2 | ELP1, HSAN3
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| Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia.
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| Salani M, Urbina F, Brenner A, Morini E, Shetty R, Gallagher CS, Law EA, Sunshine S, Finneran DJ, Johnson G, Minor L, Slaugenhaupt SA.
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| SLAS Discov 24(1):57-67. doi: 10.1177/2472555218792264. Epub 2018 Aug 7.
2019
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| 3 | ELP1, HSAN3
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| Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia.
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| Ueki Y, Shchepetkina V, Lefcort F.
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| Dis Model Mech 11(7). pii: dmm033746. doi: 10.1242/dmm.033746.
2018
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| 4 | ELP1
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| Elongator and codon bias regulate protein levels in mammalian peripheral neurons.
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| Goffena J, Lefcort F, Zhang Y, Lehrmann E, Chaverra M, Felig J, Walters J, Buksch R, Becker KG, George L.
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| Nat Commun 9(1):889. doi: 10.1038/s41467-018-03221-z.
2018
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| 5 | ELP1, ELP2, ELP3, ELP4, ELP5, ELP6
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| Structural insights into the function of Elongator.
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| Dalwadi U, Yip CK.
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| Cell Mol Life Sci 75(9):1613-1622. doi: 10.1007/s00018-018-2747-6. Epub 2018 Jan 13. Review.
2018
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| 6 | ELP1, HSAN3
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| Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.
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| Donadon I, Pinotti M, Rajkowska K, Pianigiani G, Barbon E, Morini E, Motaln H, Rogelj B, Mingozzi F, Slaugenhaupt SA, Pagani F.
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| Hum Mol Genet 27(14):2466-2476. doi: 10.1093/hmg/ddy151.
2018
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| 7 | ELP1, ELP2, ELP3, ELP4, ELP5, ELP6
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| Molecular architecture of the yeast Elongator complex reveals an unexpected asymmetric subunit arrangement.
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| Setiaputra DT, Cheng DT, Lu S, Hansen JM, Dalwadi U, Lam CH, To JL, Dong MQ, Yip CK.
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| EMBO Rep 18(2):280-291. doi: 10.15252/embr.201642548. 2017
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| 8 | ELP1, HSAN3
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| The Familial Dysautonomia disease gene, Ikbkap/Elp1, is required in the developing and adult central nervous system.
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| Chaverra M, George L, Mergy M, Waller H, Kujawa K, Murnion C, Sharples E, Thorne J, Podgajny N, Grindeland A, Ueki Y, Eiger S, Cusick C, Babcock AM, Carlson GA, Lefcort F.
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| Dis Model Mech is Model Mech. 2017 Feb 6. pii: dmm.028258. doi: 10.1242/dmm.028258. [Epub ahead of print] 2017
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| 9 | ELP1, RBM24
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| RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia.
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| Ohe K, Yoshida M, Nakano-Kobayashi A, Hosokawa M, Sako Y, Sakuma M, Okuno Y, Usui T, Ninomiya K, Nojima T, Kataoka N, Hagiwara M.
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| RNA 23(9):1393-1403. doi: 10.1261/rna.059428.116. Epub 2017 Jun 7.
2017
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| 10 | ELP1, HSAN3
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| BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia.
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| Ohlen SB, Russell ML, Brownstein MJ, Lefcort F.
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| Proc Natl Acad Sci U S A 114(19):5035-5040. doi: 10.1073/pnas.1620212114. Epub 2017 Apr 24.
2017
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| 11 | ELP1, ELP2, ELP3, ELP4, ELP5, ELP6
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| Dimerization of elongator protein 1 is essential for Elongator complex assembly.
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| Xu H, Lin Z, Li F, Diao W, Dong C, Zhou H, Xie X, Wang Z, Shen Y, Long J.
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| Proc Natl Acad Sci U S A 112(34):10697-702. doi: 10.1073/pnas.1502597112. Epub 2015 Aug 10.
2015
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| 12 | ELP1, HSAN3
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| A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation.
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| Jackson MZ, Gruner KA, Qin C, Tourtellotte WG.
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| Development 141(12):2452-61. doi: 10.1242/dev.107797.
2014
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| 13 | ELP1, ELP2, ELP3, ELP4, ELP5, ELP6
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| Structural insights into Elongator function.
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| Glatt S, Müller CW.
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| Curr Opin Struct Biol 23(2):235-42. doi: 10.1016/j.sbi.2013.02.009. Review. 2013
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| 14 | ELP1
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| Ikbkap/Elp1 deficiency causes male infertility by disrupting meiotic progression.
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| Lin FJ, Shen L, Jang CW, Falnes PØ, Zhang Y.
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| PLoS Genet 9(5):e1003516. doi: 10.1371/journal.pgen.1003516. Epub 2013 May 23.
2013
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| 15 | ELP1
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| IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration.
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| Hunnicutt BJ, Chaverra M, George L, Lefcort F.
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| PLoS One 7(2):e32050. doi: 10.1371/journal.pone.0032050. Epub 2012 Feb 23.
2012
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| 16 | ELP1, HSAN3, STMN2
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| IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia.
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| Cheishvili D, Maayan C, Cohen-Kupiec R, Lefler S, Weil M, Ast G, Razin A.
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| Hum Mol Genet 20(8):1585-94. Epub 2011 Jan 27. 2011
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| 17 | ELP1
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| Specific correction of a splice defect in brain by nutritional supplementation.
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| Shetty RS, Gallagher CS, Chen YT, Hims MM, Mull J, Leyne M, Pickel J, Kwok D, Slaugenhaupt SA.
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| Hum Mol Genet. 20(21):4093-101 2011
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| 18 | ELP1
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| Fine mapping of the 9q31 Hirschsprung's disease locus.
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| Tang CS, Sribudiani Y, Miao XP, de Vries AR, Burzynski G, So MT, Leon YY, Yip BH, Osinga J, Hui KJ, Verheij JB, Cherny SS, Tam PK, Sham PC, Hofstra RM, Garcia-Barceló MM.
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| Hum Genet 127(6):675-83. Epub 2010 Apr 2.PMID: 20361209 2010
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| 19 | CCT5, ELP1, HSAN1, HSAN2A, HSAN3, HSAN4, HSAN5, NGF, NTRK1, SNSP, SPTLC1, WNK1
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| Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
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| Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V.
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| Brain 132(Pt 10):2699-711. Epub 2009 Aug 3.PMID: 19651702 2009
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| 20 | ELP1
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| Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.
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| Chen YT, Hims MM, Shetty RS, Mull J, Liu L, Leyne M, Slaugenhaupt SA.
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| Mol Cell Biol 29(3):736-44. Epub 2008 Nov 17.PMID: 19015235 2009
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| 21 | ELP1, ELP2, ELP3, ELP4, ELP5, ELP6
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| Human Elongator complex is involved in cell cycle and suppresses cell growth in 293T human embryonic kidney cells.
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| Gu J, Sun D, Zheng Q, Wang X, Yang H, Miao J, Jiang J, Wei W.
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| Acta Biochim Biophys Sin (Shanghai) 41(10):831-8. 2009
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| 22 | ELP1, ELP2, ELP3, ELP4, ELP5, ELP6
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| ELP3 localises to mitochondria and actin-rich domains at edges of HeLa cells.
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| Barton D, Braet F, Marc J, Overall R, Gardiner J.
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| Neurosci Lett 455(1):60-4. doi: 10.1016/j.neulet.2009.03.006. 2009
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| 23 | ELP1, HSAN3
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| IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia.
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| Gold-von Simson G, Leyne M, Mull J, Rolnitzky LM, Goldberg JD, Berlin D, Axelrod FB, Slaugenhaupt SA.
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| Pediatr Res 63(2):186-90.PMID: 18091349 2008
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| 24 | ELP1
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| IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration.
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| Johansen LD, Naumanen T, Knudsen A, Westerlund N, Gromova I, Junttila M, Nielsen C, Bøttzauw T, Tolkovsky A, Westermarck J, Coffey ET, Jäättelä M, Kallunki T.
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| J Cell Sci 121(Pt 6):854-64. Epub 2008 Feb 26.PMID: 18303054 2008
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| 25 | ELP1, HSAN3
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| Loss-of-function of IKAP/ELP1: could neuronal migration defect underlie familial dysautonomia?
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| Naumanen T, Johansen LD, Coffey ET, Kallunki T.
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| Cell Adh Migr 2(4):236-9. Epub 2008 Oct 17.PMID: 19262150 2008
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| 26 | ELP1, HSAN3
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| Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia.
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| Ibrahim el C, Hims MM, Shomron N, Burge CB, Slaugenhaupt SA, Reed R.
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| Hum Mutat 28(1):41-53. 2007
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| 27 | ELP1, HSAN3
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| IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination.
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| Cheishvili D, Maayan C, Smith Y, Ast G, Razin A.
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| Hum Mol Genet 16(17):2097-104. Epub 2007 Jun 25. 2007
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| 28 | ELP1
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| Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.
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| Hims MM, Ibrahim EC, Leyne M, Mull J, Liu L, Lazaro C, Shetty RS, Gill S, Gusella JF, Reed R, Slaugenhaupt SA.
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| J Mol Med (Berl). 85(2):149-61. 2007
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| 29 | ELP1
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| A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.
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| Hims MM, Shetty RS, Pickel J, Mull J, Leyne M, Liu L, Gusella JF, Slaugenhaupt SA.
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| Genomics. 90(3):389-96. 2007
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| 30 | ELP1, ELP2, ELP3, ELP4, ELP5, ELP6
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| An early step in wobble uridine tRNA modification requires the Elongator complex.
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| Huang B, Johansson MJ, Byström AS.
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| RNA 11(4):424-36. 2005
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| 31 | ELP1, HSAN3
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| Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia
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| Cuajungco MP, Leyne M, Mull J, Gill SP, Lu W, Zagzag D, Axelrod FB, Maayan C, Gusella JF, Slaugenhaupt SA.
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| Am J Hum Genet 72(3):749-58. 2003
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| 32 | ELP1, ELP2, ELP3, NEDD4
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| Purification and characterization of the human elongator complex.
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| Hawkes NA, Otero G, Winkler GS, Marshall N, Dahmus ME, Krappmann D,Scheidereit C, Thomas CL, Schiavo G, Erdjument-Bromage H, Tempst P, SvejstrupJQ.
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| J Biol Chem 277(4):3047-52. Epub 2001 Nov 19. 2002
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| 33 | ELP1, MAPK8
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| A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling.
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| Holmberg C, Katz S, Lerdrup M, Herdegen T, Jäättelä M, Aronheim A, Kallunki T.
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| J Biol Chem. 277(35):31918-28. 2002
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| 34 | ELP1, HSAN3
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| Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
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| Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF.
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| Am J Hum Genet 68(3):598-605. 2001
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| 35 | ELP1
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| Amino-acid substitutions in the IKAP gene product significantly increase risk for bronchial asthma in children.
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| Takeoka S, Unoki M, Onouchi Y, Doi S, Fujiwara H, Miyatake A, Fujita K, Inoue I, Nakamura Y, Tamari M.
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| J Hum Genet 46(2):57-63. 2001
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| 36 | ELP1
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| A sarcoglycan-dystroglycan complex anchors Dp116 and utrophin in the peripheral nervous system.
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| Imamura M, Araishi K, Noguchi S, Ozawa E.
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| Hum Mol Genet 9(20):3091-100. 2000
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| 37 | ELP1
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| IKAP is a scaffold protein of the IkappaB kinase complex.
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| Cohen L, Henzel WJ, Baeuerle PA.
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| Nature. 395(6699):292-6. 1998
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