| 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, 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | 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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| 13 | 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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| 14 | 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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| 15 | 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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| 16 | DMD, HSAN3
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| Familial dysautonomia is caused by mutations of the IKAP gene.
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| Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY.
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| Am J Hum Genet 68(3):753-8. 2001
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| 17 | HSAN3
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| Precise Genetic Mapping and Haplotype Analysis of the Familial Dysautonomia Gene on Human Chromosome 9q31.
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| Blumenfeld A, et al.
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| Am J Hum Genet 64(4):1110-1118. 1999
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| 18 | HSAN3
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| Cloning of a novel band 4.1 superfamily gene from the familial Dysautonomia candidate region on human chromosome 9. (abstr)
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| Liebert CB, et al.
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| Am J Hum Genet 61 : A176. 1997
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| 19 | HSAN3
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| Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33.
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| Eng CM, et al.
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| Am J Med Genet 59 : 349-355. 1995
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| 20 | HSAN3
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| Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.
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| Blumenfeld A, et al.
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| Nat Genet 4 : 160-163. 1993
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