| 1 | CHRND
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| A single mutation in the acetylcholine receptor δ-subunit causes distinct effects in two types of neuromuscular synapses.
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| Park JY, Mott M, Williams T, Ikeda H, Wen H, Linhoff M, Ono F.
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| J Neurosci 34(31):10211-8. doi: 10.1523/JNEUROSCI.0426-14.2014.
2014
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| 2 | CHRND, CHRNG, NCAM1, RUNX1
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| Molecular analyses provide insight into mechanisms underlying sarcopenia and myofibre denervation in old skeletal muscles of mice.
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| Barns M, Gondro C, Tellam RL, Radley-Crabb HG, Grounds MD, Shavlakadze T.
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| Int J Biochem Cell Biol 53:174-85. doi: 10.1016/j.biocel.2014.04.025. Epub 2014 May 13.
2014
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| 3 | CHRND
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| Determinants in the β and δ subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor.
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| Rudell JC, Borges LS, Rudell JB, Beck KA, Ferns MJ.
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| J Biol Chem 289(1):203-14. doi: 10.1074/jbc.M113.502328. Epub 2013 Nov 15.
2014
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| 4 | CHRND
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| Bone marrow-derived mesenchymal stem cells up-regulate acetylcholine receptor delta subunit through NRG/ErbB3-mediated mitogen-activated protein kinase pathway.
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| Chen L, Jiang J, Xu J, Gu Y, Xu L.
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| Clin Transl Sci 5(1):27-31. doi: 10.1111/j.1752-8062.2011.00380.x. Epub 2012 Feb 23.
2012
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| 5 | CHRND, CHRNG
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| Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.
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| Saccone NL, Saccone SF, Hinrichs AL, Stitzel JA, Duan W, Pergadia ML, Agrawal A, Breslau N, Grucza RA, Hatsukami D, Johnson EO, Madden PA, Swan GE, Wang JC, Goate AM, Rice JP, Bierut LJ.
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| Am J Med Genet B Neuropsychiatr Genet 150B(4):453-66. doi: 10.1002/ajmg.b.30828.
2009
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| 6 | RAPSN, MPTLT2, CHRNA1, CHRNB1, CHRND
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| Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
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| Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV, Beeson D, Maher ER.
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| Am J Hum Genet 82(1):222-7. 2008
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| 7 | MPTLT3, MPTLT4, CHRNA1, CHRND
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| Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
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| Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Kšrber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K.
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| Am J Hum Genet 82(2):464-76. 2008
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| 8 | CHRND, CMS3A
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| Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.
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| Shen XM, Fukuda T, Ohno K, Sine SM, Engel AG.
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| J Clin Invest 118(5):1867-76. doi: 10.1172/JCI34527.
2008
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| 9 | CHRND
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| CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
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| MŸller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, LochmŸller H, Abicht A.
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| Brain 129(Pt 10):2784-93. Epub 2006 Aug 17. 2006
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| 10 | CHRND
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| Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.
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| Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J.
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| Ann Neurol 51(1):102-12. 2002
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| 11 | CHRND
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| Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.
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| Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG.
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| Neurology 59(12):1881-8. 2002
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| 12 | CHRND
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| Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.
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| Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D.
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| J Clin Invest 108(1):125-30. 2001
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| 13 | CHRNA1, CHRNB1, CHRND, CHRNE, CMS1A, CMS2B, CMS4A
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| New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
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| Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM.
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| Hum Mol Genet 5 : 1217-1227. 1996
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| 14 | CHRND
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| Dinucleotide repeat polymorphism at the CHRND locus.
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| Landa BL, et al.
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| Hum Mol Genet 3 : 1445. 1994
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| 15 | CHRNA1, CHRNB1, CHRND, CHRNG
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| Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17.
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| Beeson D, Jeremiah S, West LF, Povey S, Newsom-Davis J.
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| Ann Hum Genet 54(Pt 3):199-208. 1990
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| 16 | CHRND, CHRNG
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| Linkage disequilibrium study of RFLPs detected ay the human muscle nicotinic acetylcholine receptor subunit genes.
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| Lobos EA, Rudnick CH, Watson MS, Isenberg KE.
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| Am J Hum Genet 44 : 522-533. 1989
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| 17 | CHRNG, CHRND
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| Localisation of the human acetylcholine receptor gamma subunit gene to 2q32-qter.
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| Cohen-Haguenauer O, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 595. 1987
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