| 1 | CNTNAP1, GLDN, LCCS11, LCCS7, NFASC, NRCAM
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| Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
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| Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, Grigorescu R, Coeslier AD, Gut M, Gut I, Laquerrière A, Devaux J, Melki J.
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| Am J Hum Genet 99(4):928-933. doi: 10.1016/j.ajhg.2016.07.021.
2016
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| 2 | CNTNAP1
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| Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.
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| Vallat JM, Nizon M, Magee A, Isidor B, Magy L, Péréon Y, Richard L, Ouvrier R, Cogné B, Devaux J, Zuchner S, Mathis S.
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| J Neuropathol Exp Neurol Neuropathol Exp Neurol. 2016 Nov 6. pii: nlw093. [Epub ahead of print]
2016
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| 3 | CNTNAP1, LCCS7
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| Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.
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| Nizon M, Cogne B, Vallat JM, Joubert M, Liet JM, Simon L, Vincent M, Küry S, Boisseau P, Schmitt S, Mercier S, Bénéteau C, Larrose C, Coste M, Latypova X, Péréon Y, Mussini JM, Bézieau S, Isidor B.
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| Eur J Hum Genet ur J Hum Genet. 2016 Oct 26. doi: 10.1038/ejhg.2016.142. [Epub ahead of print]
2016
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| 4 | CHN1, CNTNAP1
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| Novel Mutation in CNTNAP1 results in Congenital Hypomyelinating Neuropathy.
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| Mehta P, Küspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB.
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| Muscle Nerve uscle Nerve. 2016 Sep 26. doi: 10.1002/mus.25416. [Epub ahead of print]
2016
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| 5 | CNTNAP1
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| Auto-antibodies to contactin-associated protein 1 (Caspr) in two patients with painful inflammatory neuropathy.
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| Doppler K, Appeltshauser L, Villmann C, Martin C, Peles E, Krämer HH, Haarmann A, Buttmann M, Sommer C.
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| Brain 139(Pt 10):2617-2630.
2016
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| 6 | ADCY6, CNTNAP1, LCCS7, LCCS8
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| Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
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| Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J.
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| Hum Mol Genet 23(9):2279-89. doi: 10.1093/hmg/ddt618.
2014
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| 7 | CNTNAP1, CNTNAP2
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| Caspr and caspr2 are required for both radial and longitudinal organization of myelinated axons.
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| Gordon A, Adamsky K, Vainshtein A, Frechter S, Dupree JL, Rosenbluth J, Peles E.
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| J Neurosci 34(45):14820-6. doi: 10.1523/JNEUROSCI.3369-14.2014.
2014
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| 8 | CNTNAP1
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| Caspr interaction with Amyloid Precursor Protein reduces amyloid-β generation in vitro.
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| Fan LF, Xu DE, Wang WH, Yan K, Wu H, Yao XQ, Xu RX, Liu CF, Ma QH.
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| Neurosci Lett 548:255-60. doi: 10.1016/j.neulet.2013.05.055.
2013
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| 9 | CNTNAP1
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| Contactin-associated protein 1 (Caspr1) regulates the traffic and synaptic content of α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors.
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| Santos SD, Iuliano O, Ribeiro L, Veran J, Ferreira JS, Rio P, Mulle C, Duarte CB, Carvalho AL.
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| J Biol Chem 287(9):6868-77. doi: 10.1074/jbc.M111.322909.
2012
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| 10 | CNTNAP1
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| Localization of the paranodal protein Caspr in the mammalian retina.
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| O'Brien BJ, Hirano AA, Buttermore ED, Bhat MA, Peles E.
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| Mol Vis 16:1854-63.
2010
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| 11 | CNTNAP1
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| A novel Caspr mutation causes the shambling mouse phenotype by disrupting axoglial interactions of myelinated nerves.
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| Sun XY, Takagishi Y, Okabe E, Chishima Y, Kanou Y, Murase S, Mizumura K, Inaba M, Komatsu Y, Hayashi Y, Peles E, Oda S, Murata Y.
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| J Neuropathol Exp Neurol 68(11):1207-18.PMID: 19816196 2009
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| 12 | CNTNAP1, NFASC
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| Disposition of axonal caspr with respect to glial cell membranes: Implications for the process of myelination.
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| Pedraza L, Huang JK, Colman D.
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| J Neurosci Res 87(15):3480-91.PMID: 19170162 2009
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| 13 | CNTNAP1, NFASC
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| No effect of genetic deletion of contactin-associated protein (CASPR) on axonal orientation and synaptic plasticity.
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| Pillai AM, Garcia-Fresco GP, Sousa AD, Dupree JL, Philpot BD, Bhat MA.
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| J Neurosci Res 85(11):2318-31.PMID: 17549747 2007
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| 14 | CNTNAP1, CNTNAP2, EPB41, EPB41L3
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| Protein 4.1B associates with both Caspr/paranodin and Caspr2 at paranodes and juxtaparanodes of myelinated fibres.
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| Denisenko-Nehrbass N, Oguievetskaia K, Goutebroze L, Galvez T, Yamakawa H, Ohara O, Carnaud M, Girault JA.
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| Eur J Neurosci 17(2):411-6. 2003
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| 15 | CNTNAP1, KCNAB1, RTN4
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| Nogo-A at CNS paranodes is a ligand of Caspr: possible regulation of K(+) channel localization.
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| Nie DY, Zhou ZH, Ang BT, Teng FY, Xu G, Xiang T, Wang CY, Zeng L, Takeda Y, Xu TL, Ng YK, Faivre-Sarrailh C, Popko B, Ling EA, Schachner M, Watanabe K, Pallen CJ, Tang BL, Xiao ZC.
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| EMBO J 22(21):5666-78. 2003
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| 16 | CNTN1, CNTNAP1
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| Caspr regulates the processing of contactin and inhibits its binding to neurofascin.
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| Gollan L, Salomon D, Salzer JL, Peles E.
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| J Cell Biol 163(6):1213-8. Epub 2003 Dec 15.
2003
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| 17 | CNTN1, CNTN2, CNTN3, CNTN4, CNTN5, CNTN6, CNTNAP1
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| Contactin-associated protein (Caspr) and contactin form a complex that is targeted to the paranodal junctions during myelination.
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| Rios JC, Melendez-Vasquez CV, Einheber S, Lustig M, Grumet M, Hemperly J, Peles E, Salzer JL.
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| J Neurosci 20(22):8354-64.PMID: 11069942 2000
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| 18 | NRXN1, NRXN2, NRXN3, CNTNAP1
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| Neurexins : three genes and 1001 products.
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| Missler M, Sudhof TC.
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| Trends Genet 14(1):20-6. 1998
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| 19 | CNTNAP1
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| Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions.
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| Peles E, Nativ M, Lustig M, Grumet M, Schilling J, Martinez R, Plowman GD, Schlessinger J.
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| EMBO J 16 : 978-988. 1997
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| 20 | CNTNAP1
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| Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions.
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| Peles E, Nativ M, Lustig M, Grumet M, Schilling J, Martinez R, Plowman GD, Schlessinger J.
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| EMBO J 16(5):978-88.PMID: 9118959 1997
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