| 1 | CSNK2A1, DOK7, RAC1, RAPSN, YWHAG
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| Protein kinase CK2 interacts at the neuromuscular synapse with Rapsyn, Rac1, 14-3-3γ, and Dok-7 proteins and phosphorylates the latter two.
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| Herrmann D, Straubinger M, Hashemolhosseini S.
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| J Biol Chem 290(37):22370-84. doi: 10.1074/jbc.M115.647610. Epub 2015 Jul 21.
2015
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| 2 | DOK7, MUSK
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| Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.
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| Arimura S, Okada T, Tezuka T, Chiyo T, Kasahara Y, Yoshimura T, Motomura M, Yoshida N, Beeson D, Takeda S, Yamanashi Y.
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| Science 345(6203):1505-8. doi: 10.1126/science.1250744.
2014
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| 3 | DOK7, LRP4, MUSK
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| Structure and activation of MuSK, a receptor tyrosine kinase central to neuromuscular junction formation.
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| Hubbard SR, Gnanasambandan K.
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| Biochim Biophys Acta 1834(10):2166-9. doi: 10.1016/j.bbapap.2013.02.034. Epub 2013 Mar 5. Review.
2013
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| 4 | CMS1B, DOK7
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| DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.
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| Klein A, Pitt MC, McHugh JC, Niks EH, Sewry CA, Phadke R, Feng L, Manzur AY, Tirupathi S, Devile C, Jayawant S, Finlayson S, Palace J, Muntoni F, Beeson D, Robb SA.
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| Neuromuscul Disord 23(11):883-91. doi: 10.1016/j.nmd.2013.06.002. Epub 2013 Jul 3.
2013
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| 5 | CMS1B, DOK7
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| Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation.
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| Lorenzoni PJ, Scola RH, Kay CS, Lochmüller H, Werneck LC.
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| Muscle Nerve 48(1):151-2. doi: 10.1002/mus.23724. Epub 2013 May 9. No abstract available.
2013
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| 6 | DOK7, MUSK
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| Endosomal trafficking of the receptor tyrosine kinase MuSK proceeds via clathrin-dependent pathways, Arf6 and actin.
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| Luiskandl S, Woller B, Schlauf M, Schmid JA, Herbst R.
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| FEBS J 280(14):3281-97. doi: 10.1111/febs.12309. Epub 2013 May 23.
2013
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| 7 | CMS1B, DOK7
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| Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.
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| Lorenzoni PJ, Scola RH, Kay CS, Filla L, Miranda AP, Pinheiro JM, Chaouch A, Lochmüller H, Werneck LC.
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| J Neurol Sci 331(1-2):155-7. doi: 10.1016/j.jns.2013.05.017. Epub 2013 Jun 19.
2013
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| 8 | CMS1B, DOK7
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| The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
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| Cossins J, Liu WW, Belaya K, Maxwell S, Oldridge M, Lester T, Robb S, Beeson D.
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| Hum Mol Genet 21(17):3765-75. doi: 10.1093/hmg/dds198. Epub 2012 Jun 1.
2012
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| 9 | DOK7, SP1
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| The transcription factor Sp1 plays a crucial role in dok-7 gene expression.
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| Hamuro J, Hishida Y, Higuchi O, Yamanashi Y.
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| Biochem Biophys Res Commun 408(2):293-9. Epub 2011 Apr 9.
2011
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| 10 | CSM1B, DOK7, MPTLT5
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| Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.
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| Müller JS, Jepson CD, Laval SH, Bushby K, Straub V, Lochmüller H.
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| Hum Mol Genet 19(9):1726-40. Epub 2010 Feb 10. 2010
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| 11 | CMS1D, DOK7, MUSK
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| Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
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| Maselli RA, Arredondo J, Cagney O, Ng JJ, Anderson JA, Williams C, Gerke BJ, Soliven B, Wollmann RL.
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| Hum Mol Genet 19(12):2370-9. Epub 2010 Apr 6.PMID: 20371544 2010
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| 12 | AGRN, CRK, CRKL, DOK7, MUSK
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| Dok-7 regulates neuromuscular synapse formation by recruiting Crk and Crk-L.
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| Hallock PT, Xu CF, Park TJ, Neubert TA, Curran T, Burden SJ.
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| Genes Dev 24(21):2451-61.
2010
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| 13 | DOK7, MPTLT5
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| Germline mutation in DOK7 associated with fetal akinesia deformation sequence.
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| Vogt J, Morgan NV, Marton T, Maxwell S, Harrison BJ, Beeson D, Maher ER.
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| J Med Genet 46(5):338-40. Epub 2009 Mar 3. 2009
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| 14 | DOK7, MUSK
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| Dok-7 activates the muscle receptor kinase MuSK and shapes synapse formation.
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| Inoue A, Setoguchi K, Matsubara Y, Okada K, Sato N, Iwakura Y, Higuchi O, Yamanashi Y.
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| Sci Signal 2(59):ra7.PMID: 19244212 2009
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| 15 | DOK7, CMS1B, CMS1D, MUSK
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| Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.
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| Hamuro J, Higuchi O, Okada K, Ueno M, Iemura S, Natsume T, Spearman H, Beeson D, Yamanashi Y.
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| J Biol Chem 283(9):5518-24. Epub 2007 Dec 29. 2008
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| 16 | CMS1B, DOK7
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| Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.
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| Selcen D, Milone M, Shen XM, Harper CM, Stans AA, Wieben ED, Engel AG.
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| Ann Neurol 64(1):71-87.PMID: 18626973 2008
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| 17 | MUSK, DOK7
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| The muscle protein Dok-7 is essential for neuromuscular synaptogenesis.
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| Okada K, Inoue A, Okada M, Murata Y, Kakuta S, Jigami T, Kubo S, Shiraishi H, Eguchi K, Motomura M, Akiyama T, Iwakura Y, Higuchi O, Yamanashi Y.
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| Science 312(5781):1802-5. 2006
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| 18 | DOK7, CMS1B
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| Dok-7 mutations underlie a neuromuscular junction synaptopathy.
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| Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Muller JS, Lochmuller H, Slater C, Vincent A, Yamanashi Y.
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| Science 313(5795):1975-8. Epub 2006 Aug 17. 2006
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