| 1 | DYNC1H1, RTP1
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| Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.
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| Lin Z, Liu Z, Li X, Li F, Hu Y, Chen B, Wang Z, Liu Y.
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| Sci Rep 7(1):258. doi: 10.1038/s41598-017-00208-6.
2017
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| 2 | CDCBM1, CDCBM2, CDCBM3, CDCBM4, DYNC1H1, KIF2A, KIF5C, MRD13, TUBG1
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| Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
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| Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J.
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| Nat Genet 45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21. Erratum in: Nat Genet. 2013 Aug;45(8):962. 2013
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| 3 | DYNC1H1, NF1
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| Neurofibromin interacts with the cytoplasmic Dynein Heavy Chain 1 in melanosomes of human melanocytes.
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| Arun V, Worrell L, Wiley JC, Kaplan DR, Guha A.
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| FEBS Lett 587(10):1466-73. doi: 10.1016/j.febslet.2013.03.035. Epub 2013 Apr 10.
2013
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| 4 | DYNC1H1, MRD13
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| Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
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| Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T.
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| J Med Genet 49(3):179-83. 2012
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| 5 | CMT2O, DYNC1H1
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| Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
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| Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S.
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| Am J Hum Genet 89(2):308-12. doi: 10.1016/j.ajhg.2011.07.002. Epub 2011 Aug 4.
2011
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| 6 | DYNC1H1
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| A cytoplasmic dynein tail mutation impairs motor processivity.
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| Ori-McKenney KM, Xu J, Gross SP, Vallee RB.
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| Nat Cell Biol 12(12):1228-34. Epub 2010 Nov 21.
2010
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| 7 | DYNC1H1
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| Neurodegenerative mutation in cytoplasmic dynein alters its organization and dynein-dynactin and dynein-kinesin interactions.
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| Deng W, Garrett C, Dombert B, Soura V, Banks G, Fisher EM, van der Brug MP, Hafezparast M.
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| J Biol Chem 285(51):39922-34. Epub 2010 Oct 2.
2010
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| 8 | DYNC1H1
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| Cytoplasmic dynein could be key to understanding neurodegeneration.
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| Banks GT, Fisher EM.
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| Genome Biol 9(3):214. Epub 2008 Mar 28. Review.
2008
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| 9 | DYNC1H1
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| Proprioceptive sensory neuropathy in mice with a mutation in the cytoplasmic Dynein heavy chain 1 gene.
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| Chen XJ, Levedakou EN, Millen KJ, Wollmann RL, Soliven B, Popko B.
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| J Neurosci 27(52):14515-24.
2007
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| 10 | AK1, AK5, C14orf68, DNAH1, DNAH10, DNAH11, DNAH12, DNAH14, DNAH17, DNAH2, DNAH3, DNAH5, DNAH6, DNAH7, DNAH8, DNAH9, DNAI1, DNAI2, DNAI4, DNAL4, DYNC1H1, DYNC1I1, DYNC1I2, DYNC2H1, DYNLL1, DYNLL2, DYNLRB1, DYNLRB2, DYNLT1, DYNLT3, DYNLT5, ICS5, ICS6, NME8, TCTE3, TXNDC2, TXNDC6, WDR63
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| Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.
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| Pazour GJ, Agrin N, Walker BL, Witman GB.
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| J Med Genet 43(1):62-73. Epub 2005 Jun 3. 2006
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| 11 | DYNC1H1
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| Mutations in dynein link motor neuron degeneration to defects in retrograde transport.
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| Witherden AS, Hummerich H, Nicholson S, Morgan PJ, Oozageer R, Priestley JV, Averill S, King VR, Ball S, Peters J, Toda T, Yamamoto A, Hiraoka Y, Augustin M, Korthaus D, Wattler S, Wabnitz P, Dickneite C, Lampel S, Boehme F, Peraus G, Popp A, Rudelius M, Schlegel J, Fuchs H, Hrabe de Angelis M, Schiavo G, Shima DT, Russ AP, Stumm G, Martin JE, Fisher EM.
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| Science 300(5620):808-12. 2003
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| 12 | ADAMTS3, AKAP6, ALMS1, ANKRD28, AREL1, ARHGEF10, ARHGEF11, ARHGEF17, ARNT2, BAZ2A, CABIN1, CAST, CHD9, CIC, CLEC16A, CLOCK, CTNND1, DCLK1, DDX46, DIDO1, DNAH9, DNM3, DOCK3, DYNC1H1, ECM29, ENTPD4, EPB41L1, EZH1, FRMPD4, GCC2, HECW1, HERC2, HISPPD1, HUWE1, IGSF1, KAT6B, KHNYN, KIAA0319, KIAA0355, KIAA0379, KIF3B, KMT2B, LBA1, MADD, MAST4, MCF2L, MDN1, MTMR3, MYO6, N4BP3, NACAD, NRCAM, PCDH9, PCDHGA8, PCDHGC3, PDZD2, PER2, PFAS, PLEKHM1, PLXNB2, PRORP, PRUNE2, PTPRN2, RAPGEF2, RIMBP2, RIMS1, RIPOR2, RUSC2, SALL2, SEC16A, SEMA3C, SEMA3E, SETD1A, SFRS14, SNPH, SPECC1L, SPTBN2, SR140, SRCAP, SRRM2, SYNJ2, TECPR2, TLN2, TRIM66, TTC37, UBR2, WNK1, XPO6, ZBTB39, ZBTB5, ZFYVE16, ZFYVE26, ZMYM3, ZNF518A, ZNF609, ZNF629, ZNF646
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| Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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| Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A,Kotani H, Nomura N, Ohara O.
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| DNA Res 4(2):141-50. 1997
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| 13 | DCTN1, DCTN2, DNAH1, DNAH12, DNAH13, DNAH2, DNAH6, DNAH8, DYNC1H1, DYNC2H1, DYNC1I1, DYNC1I2, DYNC1LI2, DNAH9
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| Multiple mouse chromosomal loci for dynein-based motility.
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| Vaughan KT, Mikami A, Paschal BM, Holzbaur EL, Hughes SM, Echeverri CJ, Moore KJ, Gilbert DJ, Copeland NG, Jenkins NA, Vallee RB.
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| Genomics 36(1):29-38. 1996
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| 14 | DCTN2, DYNC1H1
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| Molecular characterization of the 50-kD subunit of dynactin reveals function for the complex in chromosome alignment and spindle organization during mitosis.
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| Echeverri CJ, Paschal BM, Vaughan KT, Vallee RB.
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| J Cell Biol 132(4):617-33. 1996
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| 15 | DYNC1H1
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| Localization of the human cytoplasmic dynein heavy chain (DNECL) to 14qter by fluorescence in situ hybridization.
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| Narayan D, et al.
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| Genomics 22 : 660-661. 1994
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| 16 | DYNC1H1
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| Molecular cloning of the retrograde transport motor cytoplasmic dynein (MAP 1C).
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| Mikami A, et al.
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| Neuron 10 : 787-796. 1993
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| 17 | DYNC1H1
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| Cytoplasmic dynein plays a role in mammalian mitotic spindle formation.
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| Vaisberg EA, Koonce MP, McIntosh JR.
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| J Cell Biol 123(4):849-58. 1993
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