| 1 | DMXL2, EIEE81
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| Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course
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| Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedě S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R.
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| Brain Dec 1;142(12):3876-3891. doi: 10.1093/brain/awz326. Erratum in: Brain. 2020 Feb 1;143(2):e16. 2019
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| 2 | DMXL2
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| Dual role of DMXL2 in olfactory information transmission and the first wave of spermatogenesis.
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| Gobé C, Elzaiat M, Meunier N, André M, Sellem E, Congar P, Jouneau L, Allais-Bonnet A, Naciri I, Passet B, Pailhoux E, Pannetier M.
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| PLoS Genet. Feb 8;15(2):e1007909. doi: 10.1371/journal.pgen.1007909. eCollection 2019 Feb. 2019
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| 3 | DMXL2, EIEE81
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| Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
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| Costain G, Walker S, Argiropoulos B, Baribeau DA, Bassett AS, Boot E, Devriendt K, Kellam B, Marshall CR, Prasad A, Serrano MA, Stavropoulos DJ, Twede H, Vermeesch JR, Vorstman JAS, Scherer SW.
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| J Neurodev Disord. Feb 7;11(1):3. doi: 10.1186/s11689-019-9263-3 2019
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| 4 | CACNA1B, DMXL2
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| Interactions of Rabconnectin-3 with Cav2 calcium channels.
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| Gandini MA, Souza IA, Fan J, Li K, Wang D, Zamponi GW.
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| Mol Brain. Jun 28;12(1):62. doi: 10.1186/s13041-019-0483-y. 2019
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| 5 | DFNA71, DMXL2
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| A dominant variant in DMXL2 is linked to nonsyndromic hearing loss
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| Chen DY, Liu XF, Lin XJ, Zhang D, Chai YC, Yu DH, Sun CL, Wang XL, Zhu WD, Chen Y, Sun LH, Wang XW, Shi FX, Huang ZW, Yang T, Wu H
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| Genet Med. May;19(5):553-558. doi: 10.1038/gim.2016.142. Epub 2016 Sep 22 2017
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| 6 | DMXL2
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| Rabconnectin-3α is required for the morphological maturation of GnRH neurons and kisspeptin responsiveness.
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| Tata BK, Harbulot C, Csaba Z, Peineau S, Jacquier S, de Roux N.
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| Sci Rep. Feb 17;7:42463. doi: 10.1038/srep42463 2017
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| 7 | DMXL2, WDR7
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| Rabconnectin-3 is a functional regulator of mammalian Notch signaling.
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| Sethi N, Yan Y, Quek D, Schupbach T, Kang Y.
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| J Biol Chem 285(45):34757-64. Epub 2010 Sep 1. 2010
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| 8 | DMXL2
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| Purification and properties of rabconnectin-3.
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| Sakisaka T, Takai Y.
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| Methods Enzymol 403:401-7.
2005
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| 9 | DMXL2, RAB3GAP1, WDR7
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| A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca(2+)-dependent exocytosis of neurotransmitter.
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| Kawabe H, Sakisaka T, Yasumi M, Shingai T, Izumi G, Nagano F, Deguchi-Tawarada M, Takeuchi M, Nakanishi H, Takai Y.
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| Genes Cells 8(6):537-46. 2003
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| 10 | DMXL2
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| Rabconnectin-3, a novel protein that binds both GDP/GTP exchange protein and GTPase-activating protein for Rab3 small G protein family.
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| Nagano F, Kawabe H, Nakanishi H, Shinohara M, Deguchi-Tawarada M, Takeuchi M, Sasaki T, Takai Y.
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| J Biol Chem 277(12):9629-32. Epub 2002 Jan 24. 2002
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| 11 | ABLIM3, ABLIM3, ABLIM3, ADGRL1, ADNP2, AHCYL2, ANKRD12, AP2A1, AP2A2, ARHGEF15, C20orf117, CLSTN1, CNKSR2, DHX30, DMXL2, EEF1AKNMT, EHBP1, FAF2, FBXO4, GOLGA8A, IVNS1ABP, MCF2L2, MLXIP, MORC2, NUP210, PCF11, PCYOX1, PNMA2, RAB11FIP5, RASGRP3, RHOBTB3, RUFY3, SACM1L, SCFD1, SEC31A, SLCO2B1, SLITRK3, UBOX5, USP19, WDR47, WWC1, ZC3H13, ZHX2, ZNF365
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| Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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| Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, TanakaA, Kotani H, Nomura N, Ohara O.
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| DNA Res 5(6):355-64. 1998
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