| 1 | CACNA1B, DYT23, DYT26, DYT4, KCTD17, TUBB4A
|
| Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.
|
| Domingo A, Erro R, Lohmann K.
|
| Mov Disord 31(4):471-7. doi: 10.1002/mds.26600. Review.
2016
|
| 2 | DYT26, KCTD17
|
| A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia.
|
| Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW.
|
| Am J Hum Genet 96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14.
2015
|
| 3 | KCTD17
|
| Ubiquitin-proteasome system controls ciliogenesis at the initial step of axoneme extension.
|
| Kasahara K, Kawakami Y, Kiyono T, Yonemura S, Kawamura Y, Era S, Matsuzaki F, Goshima N, Inagaki M.
|
| Nat Commun 5:5081. doi: 10.1038/ncomms6081.
2014
|
| 4 | ABLIM1, AGXT2L2, ARMC7, BRME1, C10orf12, C10orf18, C10orf54, C10orf62, C10orf82, C11orf49, C11orf68, C12orf12, C12orf31, C18orf45, C18orf54, C18orf56, C19orf43, C19orf50, C1orf111, C1orf63, C1orf89, C20orf195, C20orf27, C3orf19, C4orf42, C7orf50, C8orf48, CCDC112, CCDC116, CCDC120, CCDC127, CCDC130, CCDC131, CCDC181, CCDC42, CCDC49, CCDC67, CCDC7, CEP19, CEP95, CFAP53, CHAC1, DYDC1, DYDC2, EEF1DP3, EIF1AD, FAM164C, FAM27E3, FAM86A, FAM86C, FAM96A, FASTKD5, HSPB11, HYI, KCTD17, LRRC18, MGME1, NUDT9P1, SMTN, TACO1, TEX9, TMEM19, UBLCP1, ZCCHC10, ZNF167, ZNF334, ZNF337, ZNF426, ZNF646
|
| Towards a proteome-scale map of the human protein-protein interaction network.
|
| Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M.
|
| Nature 437(7062):1173-8. Epub 2005 Sep 28. 2005
|