1 | HD, HTT
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| A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease.
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| Kay C, Collins JA, Caron NS, Agostinho LA, Findlay-Black H, Casal L, Sumathipala D, Dissanayake VHW, Cornejo-Olivas M, Baine F, Krause A, Greenberg JL, Paiva CLA, Squitieri F, Hayden MR.
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| Am J Hum Genet 105(6):1112-1125. doi: 10.1016/j.ajhg.2019.10.011. Epub 2019 Nov 7.
2019
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2 | FAN1, HD, HTT
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| FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat.
|
| Goold R, Flower M, Moss DH, Medway C, Wood-Kaczmar A, Andre R, Farshim P, Bates GP, Holmans P, Jones L, Tabrizi SJ.
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| Hum Mol Genet. Feb 15;28(4):650-661. doi: 10.1093/hmg/ddy375 2019
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3 | CEP89, HTT, KIF19, ODF2, PCM1
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| Genetic defects in ciliary genes in autosomal dominant polycystic kidney disease.
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| Skalická K, Hrčková G, Vaská A, Baranyaiová Á, Kovács L.
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| World J Nephrol. Mar 6;7(2):65-70. doi: 10.5527/wjn.v7.i2.65. 2018
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4 | ATN1, ATXN2, HTT
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| Co-expression Patterns between ATN1 and ATXN2 Coincide with Brain Regions Affected in Huntington's Disease.
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| Keo A, Aziz NA, Dzyubachyk O, van der Grond J, van Roon-Mom WMC, Lelieveldt BPF, Reinders MJT, Mahfouz A.
|
| Front Mol Neurosci 10:399. doi: 10.3389/fnmol.2017.00399. eCollection 2017.
2017
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5 | HTT, ZDHHC13, ZDHHC17
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| Huntingtin interacting proteins 14 and 14-like are required for chorioallantoic fusion during early placental development.
|
| Sanders SS, Hou J, Sutton LM, Garside VC, Mui KK, Singaraja RR, Hayden MR, Hoodless PA.
|
| Dev Biol 397(2):257-66. doi: 10.1016/j.ydbio.2014.11.018. Epub 2014 Dec 3.
2015
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6 | HTT
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| Huntingtin functions as a scaffold for selective macroautophagy.
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| Rui YN, Xu Z, Patel B, Chen Z, Chen D, Tito A, David G, Sun Y, Stimming EF, Bellen HJ, Cuervo AM, Zhang S.
|
| Nat Cell Biol 17(3):262-75. doi: 10.1038/ncb3101. Epub 2015 Feb 16.
2015
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7 | HD, HTT
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| Soluble N-terminal fragment of mutant Huntingtin protein impairs mitochondrial axonal transport in cultured hippocampal neurons.
|
| Tian J, Yan YP, Zhou R, Lou HF, Rong Y, Zhang BR.
|
| Neurosci Bull 30(1):74-80. doi: 10.1007/s12264-013-1393-0. Epub 2013 Dec 21.
2014
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8 | HTT
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| Mutant huntingtin affects cortical progenitor cell division and development of the mouse neocortex.
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| Molina-Calavita M, Barnat M, Elias S, Aparicio E, Piel M, Humbert S.
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| J Neurosci 34(30):10034-40. doi: 10.1523/JNEUROSCI.0715-14.2014.
2014
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9 | HTT
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| Huntingtin is required for normal excitatory synapse development in cortical and striatal circuits.
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| McKinstry SU, Karadeniz YB, Worthington AK, Hayrapetyan VY, Ozlu MI, Serafin-Molina K, Risher WC, Ustunkaya T, Dragatsis I, Zeitlin S, Yin HH, Eroglu C.
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| J Neurosci 34(28):9455-72. doi: 10.1523/JNEUROSCI.4699-13.2014.
2014
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10 | HTT
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| Inhibition of mitochondrial protein import by mutant huntingtin.
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| Yano H, Baranov SV, Baranova OV, Kim J, Pan Y, Yablonska S, Carlisle DL, Ferrante RJ, Kim AH, Friedlander RM.
|
| Nat Neurosci 17(6):822-31. doi: 10.1038/nn.3721. Epub 2014 May 18.
2014
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11 | HTT
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| Huntingtin protein is essential for mitochondrial metabolism, bioenergetics and structure in murine embryonic stem cells.
|
| Ismailoglu I, Chen Q, Popowski M, Yang L, Gross SS, Brivanlou AH.
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| Dev Biol 391(2):230-40. doi: 10.1016/j.ydbio.2014.04.005. Epub 2014 Apr 26.
2014
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12 | HTT
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| Huntingtin regulates mammary stem cell division and differentiation.
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| Elias S, Thion MS, Yu H, Sousa CM, Lasgi C, Morin X, Humbert S.
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| Stem Cell Reports 2(4):491-506. doi: 10.1016/j.stemcr.2014.02.011. eCollection 2014 Apr 8.
2014
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13 | HD, HTT
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| HTT-lowering reverses Huntington's disease immune dysfunction caused by NFκB pathway dysregulation.
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| Träger U, Andre R, Lahiri N, Magnusson-Lind A, Weiss A, Grueninger S, McKinnon C, Sirinathsinghji E, Kahlon S, Pfister EL, Moser R, Hummerich H, Antoniou M, Bates GP, Luthi-Carter R, Lowdell MW, Björkqvist M, Ostroff GR, Aronin N, Tabrizi SJ.
|
| Brain 137(Pt 3):819-33. doi: 10.1093/brain/awt355. Epub 2014 Jan 22.
2014
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14 | HD, HTT
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| A large scale Huntingtin protein interaction network implicates Rho GTPase signaling pathways in Huntington disease.
|
| Tourette C, Li B, Bell R, O'Hare S, Kaltenbach LS, Mooney SD, Hughes RE.
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| J Biol Chem 289(10):6709-26. doi: 10.1074/jbc.M113.523696. Epub 2014 Jan 9.
2014
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15 | HTT, MECP2
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| MeCP2: a novel Huntingtin interactor.
|
| McFarland KN, Huizenga MN, Darnell SB, Sangrey GR, Berezovska O, Cha JH, Outeiro TF, Sadri-Vakili G.
|
| Hum Mol Genet 23(4):1036-44. doi: 10.1093/hmg/ddt499. Epub 2013 Oct 8.
2014
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16 | HAP1, HTT
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| The regulation of autophagosome dynamics by huntingtin and HAP1 is disrupted by expression of mutant huntingtin, leading to defective cargo degradation.
|
| Wong YC, Holzbaur EL.
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| J Neurosci 34(4):1293-305. doi: 10.1523/JNEUROSCI.1870-13.2014.
2014
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17 | HD, HTT
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| A role of mitochondrial complex II defects in genetic models of Huntington's disease expressing N-terminal fragments of mutant huntingtin.
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| Damiano M, Diguet E, Malgorn C, D'Aurelio M, Galvan L, Petit F, Benhaim L, Guillermier M, Houitte D, Dufour N, Hantraye P, Canals JM, Alberch J, Delzescaux T, Déglon N, Beal MF, Brouillet E.
|
| Hum Mol Genet 22(19):3869-82. doi: 10.1093/hmg/ddt242. Epub 2013 May 29.
2013
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18 | HTT, RASD2
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| Attenuation of Rhes activity significantly delays the appearance of behavioral symptoms in a mouse model of Huntington's disease.
|
| Baiamonte BA, Lee FA, Brewer ST, Spano D, LaHoste GJ.
|
| PLoS One 8(1):e53606. doi: 10.1371/journal.pone.0053606. Epub 2013 Jan 21.
2013
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19 | HTT
|
| Huntington disease arises from a combinatory toxicity of polyglutamine and copper binding.
|
| Xiao G, Fan Q, Wang X, Zhou B.
|
| Proc Natl Acad Sci U S A 110(37):14995-5000. doi: 10.1073/pnas.1308535110. Epub 2013 Aug 26.
2013
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20 | HTT
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| Selective roles of normal and mutant huntingtin in neural induction and early neurogenesis.
|
| Nguyen GD, Gokhan S, Molero AE, Mehler MF.
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| PLoS One 8(5):e64368. doi: 10.1371/journal.pone.0064368. Print 2013.
2013
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21 | HTT, RASD2
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| The role of Rhes, Ras homolog enriched in striatum, in neurodegenerative processes.
|
| Harrison LM, Lahoste GJ.
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| Exp Cell Res 319(15):2310-5. doi: 10.1016/j.yexcr.2013.03.033. Epub 2013 Apr 10. Review.
2013
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22 | HD, HTT
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| Depletion of cognate charged transfer RNA causes translational frameshifting within the expanded CAG stretch in huntingtin.
|
| Girstmair H, Saffert P, Rode S, Czech A, Holland G, Bannert N, Ignatova Z.
|
| Cell Rep 3(1):148-59. doi: 10.1016/j.celrep.2012.12.019. Epub 2013 Jan 24.
2013
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23 | HTT
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| Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease.
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| Sathasivam K, Neueder A, Gipson TA, Landles C, Benjamin AC, Bondulich MK, Smith DL, Faull RL, Roos RA, Howland D, Detloff PJ, Housman DE, Bates GP.
|
| Proc Natl Acad Sci U S A 110(6):2366-70. doi: 10.1073/pnas.1221891110. Epub 2013 Jan 22.
2013
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24 | HTT
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| An N-terminal nuclear export signal regulates trafficking and aggregation of Huntingtin (Htt) protein exon 1.
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| Zheng Z, Li A, Holmes BB, Marasa JC, Diamond MI.
|
| J Biol Chem 288(9):6063-71. doi: 10.1074/jbc.M112.413575. Epub 2013 Jan 14.
2013
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25 | HTT
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| The huntingtin N17 domain is a multifunctional CRM1 and Ran-dependent nuclear and cilial export signal.
|
| Maiuri T, Woloshansky T, Xia J, Truant R.
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| Hum Mol Genet 22(7):1383-94. doi: 10.1093/hmg/dds554. Epub 2013 Jan 7.
2013
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26 | CALB2, HTT
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| Calretinin interacts with huntingtin and reduces mutant huntingtin-caused cytotoxicity.
|
| Dong G, Gross K, Qiao F, Ferguson J, Callegari EA, Rezvani K, Zhang D, Gloeckner CJ, Ueffing M, Wang H.
|
| J Neurochem 123(3):437-46. doi: 10.1111/j.1471-4159.2012.07919.x. Epub 2012 Sep 10.
2012
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27 | HTT
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| Impaired heat shock response in cells expressing full-length polyglutamine-expanded huntingtin.
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| Chafekar SM, Duennwald ML.
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| PLoS One 7(5):e37929. doi: 10.1371/journal.pone.0037929. Epub 2012 May 23.
2012
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28 | FOXO1, HTT, XBP1
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| Targeting the UPR transcription factor XBP1 protects against Huntington's disease through the regulation of FoxO1 and autophagy.
|
| Vidal RL, Figueroa A, Court FA, Thielen P, Molina C, Wirth C, Caballero B, Kiffin R, Segura-Aguilar J, Cuervo AM, Glimcher LH, Hetz C.
|
| Hum Mol Genet 21(10):2245-62. doi: 10.1093/hmg/dds040. Epub 2012 Feb 14.
2012
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29 | HD, HTT
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| Structural features and domain organization of huntingtin fibrils.
|
| Bugg CW, Isas JM, Fischer T, Patterson PH, Langen R.
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| J Biol Chem 287(38):31739-46. doi: 10.1074/jbc.M112.353839.
2012
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30 | HTT, KPNB2
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| Identification of a karyopherin β1/β2 proline-tyrosine nuclear localization signal in huntingtin protein.
|
| Desmond CR, Atwal RS, Xia J, Truant R.
|
| J Biol Chem 287(47):39626-33. doi: 10.1074/jbc.M112.412379.
2012
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31 | HD, HTT
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| Meclizine is neuroprotective in models of Huntington's disease.
|
| Gohil VM, Offner N, Walker JA, Sheth SA, Fossale E, Gusella JF, MacDonald ME, Neri C, Mootha VK.
|
| Hum Mol Genet 20(2):294-300. Epub 2010 Oct 25.
2011
|
32 | HTT
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| Huntingtin coordinates the dynein-mediated dynamic positioning of endosomes and lysosomes.
|
| Caviston JP, Zajac AL, Tokito M, Holzbaur EL.
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| Mol Biol Cell. 22(4):478-92. 2011
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33 | FIS1, HD, HTT, MFN1, MFN2, OPA1, PPID, TOMM40
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| Abnormal mitochondrial dynamics, mitochondrial loss and mutant huntingtin oligomers in Huntington's disease: implications for selective neuronal damage.
|
| Shirendeb U, Reddy AP, Manczak M, Calkins MJ, Mao P, Tagle DA, Reddy PH.
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| Hum Mol Genet 20(7):1438-55. Epub 2011 Jan 21.
2011
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34 | DCTN1, HTT, NUMA1
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| Mitotic spindle: focus on the function of huntingtin.
|
| Godin JD, Humbert S.
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| Int J Biochem Cell Biol 43(6):852-6. Epub 2011 Mar 23. Review.
2011
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35 | HTT, TRAF6
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| Tumor necrosis factor receptor-associated factor 6 (TRAF6) associates with huntingtin protein and promotes its atypical ubiquitination to enhance aggregate formation.
|
| Zucchelli S, Marcuzzi F, Codrich M, Agostoni E, Vilotti S, Biagioli M, Pinto M, Carnemolla A, Santoro C, Gustincich S, Persichetti F.
|
| J Biol Chem 286(28):25108-17. Epub 2011 Mar 25.
2011
|
36 | HD, HTT
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| Huntingtin affinity for partners is not changed by polyglutamine length: aggregation itself triggers aberrant interactions.
|
| Davranche A, Aviolat H, Zeder-Lutz G, Busso D, Altschuh D, Trottier Y, Klein FA.
|
| Hum Mol Genet 20(14):2795-806. Epub 2011 Apr 25.
2011
|
37 | HTT, ZDHHC17
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| Wild-type HTT modulates the enzymatic activity of the neuronal palmitoyl transferase HIP14.
|
| Huang K, Sanders SS, Kang R, Carroll JB, Sutton L, Wan J, Singaraja R, Young FB, Liu L, El-Husseini A, Davis NG, Hayden MR.
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| Hum Mol Genet 20(17):3356-65. Epub 2011 Jun 2.
2011
|
38 | HAP1, HTT, PCM1
|
| Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease.
|
| Keryer G, Pineda JR, Liot G, Kim J, Dietrich P, Benstaali C, Smith K, Cordeličres FP, Spassky N, Ferrante RJ, Dragatsis I, Saudou F.
|
| J Clin Invest 121(11):4372-82. doi: 10.1172/JCI57552.
2011
|
39 | HTT
|
| A role for huntington disease protein in dendritic RNA granules.
|
| Savas JN, Ma B, Deinhardt K, Culver BP, Restituito S, Wu L, Belasco JG, Chao MV, Tanese N.
|
| J Biol Chem 285(17):13142-53. Epub 2010 Feb 25.
2010
|
40 | HD, HTT
|
| Huntingtin facilitates polycomb repressive complex 2.
|
| Seong IS, Woda JM, Song JJ, Lloret A, Abeyrathne PD, Woo CJ, Gregory G, Lee JM, Wheeler VC, Walz T, Kingston RE, Gusella JF, Conlon RA, Macdonald ME.
|
| Hum Mol Genet 19(4):573-83. Epub 2009 Nov 23.PMID: 19933700 2010
|
41 | AP1S1 CD4, HD, HTT
|
| Expression analysis of novel striatal-enriched genes in Huntington disease.
|
| Mazarei G, Neal SJ, Becanovic K, Luthi-Carter R, Simpson EM, Leavitt BR.
|
| Hum Mol Genet 19(4):609-22. Epub 2009 Nov 23.PMID: 19934114 2010
|
42 | HTT
|
| The Huntington's disease mutation impairs Huntingtin's role in the transport of NF-κB from the synapse to the nucleus.
|
| Marcora E, Kennedy MB.
|
| Hum Mol Genet 19(22):4373-84. Epub 2010 Aug 25.
2010
|
43 | HTT
|
| Is Huntington disease a developmental disorder?
|
| Humbert S.
|
| EMBO Rep 11(12):899. No abstract available.
2010
|
44 | HD, HTT
|
| Effects of overexpression of huntingtin proteins on mitochondrial integrity.
|
| Wang H, Lim PJ, Karbowski M, Monteiro MJ.
|
| Hum Mol Genet 18(4):737-52. Epub 2008 Nov 27.
2009
|
45 | HD, HTT
|
| Mutant huntingtin N-terminal fragments of specific size mediate aggregation and toxicity in neuronal cells.
|
| Ratovitski T, Gucek M, Jiang H, Chighladze E, Waldron E, D'Ambola J, Hou Z, Liang Y, Poirier MA, Hirschhorn RR, Graham R, Hayden MR, Cole RN, Ross CA.
|
| J Biol Chem 284(16):10855-67. Epub 2009 Feb 9.
2009
|
46 | HTT, PAK2
|
| Huntingtin promotes cell survival by preventing Pak2 cleavage.
|
| Luo S, Rubinsztein DC.
|
| J Cell Sci 122(Pt 6):875-85. Epub 2009 Feb 24.
2009
|
47 | HD, HTT, NR1H3
|
| Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors.
|
| Futter M, Diekmann H, Schoenmakers E, Sadiq O, Chatterjee K, Rubinsztein DC.
|
| J Med Genet 46(7):438-46. Epub 2009 May 17.
2009
|
48 | HD, HTT
|
| Mutant huntingtin interacts with {beta}-tubulin and disrupts vesicular transport and insulin secretion.
|
| Smith R, Bacos K, Fedele V, Soulet D, Walz HA, Obermüller S, Lindqvist A, Björkqvist M, Klein P, Onnerfjord P, Brundin P, Mulder H, Li JY.
|
| Hum Mol Genet 18(20):3942-54. Epub 2009 Jul 23.PMID: 19628478 2009
|
49 | HTT, RAB11A
|
| Mutant huntingtin impairs vesicle formation from recycling endosomes by interfering with Rab11 activity.
|
| Li X, Standley C, Sapp E, Valencia A, Qin ZH, Kegel KB, Yoder J, Comer-Tierney LA, Esteves M, Chase K, Alexander J, Masso N, Sobin L, Bellve K, Tuft R, Lifshitz L, Fogarty K, Aronin N, DiFiglia M.
|
| Mol Cell Biol 29(22):6106-16. Epub 2009 Sep 14.
2009
|
50 | HAP1, HTT
|
| Huntingtin associated protein 1 and its functions.
|
| Wu LL, Zhou XF.
|
| Cell Adh Migr 3(1):71-6. Epub 2009 Jan 26.PMID: 19262167 2009
|
51 | HTT
|
| Congenital hydrocephalus associated with abnormal subcommissural organ in mice lacking huntingtin in Wnt1 cell lineages.
|
| Dietrich P, Shanmugasundaram R, Shuyu E, Dragatsis I.
|
| Hum Mol Genet. 18(1):142-50. 2009
|
52 | HTT
|
| Selective neuronal requirement for huntingtin in the developing zebrafish.
|
| Henshall TL, Tucker B, Lumsden AL, Nornes S, Lardelli MT, Richards RI.
|
| Hum Mol Genet. 18(24):4830-42. 2009
|
53 | C15orf63, HTT
|
| HYPK, a Huntingtin interacting protein, reduces aggregates and apoptosis induced by N-terminal Huntingtin with 40 glutamines in Neuro2a cells and exhibits chaperone-like activity.
|
| Raychaudhuri S, Sinha M, Mukhopadhyay D, Bhattacharyya NP.
|
| Hum Mol Genet 17(2):240-55. Epub 2007 Oct 18. 2008
|
54 | HD, HTT
|
| Huntington's disease: genetics lends a hand.
|
| Palfi S, Jarraya B.
|
| Nature 453(7197):863-4. No abstract available. 2008
|
55 | HTT, NFYA, HSPA4
|
| Mutant Huntingtin reduces HSP70 expression through the sequestration of NF-Y transcription factor.
|
| Yamanaka T, Miyazaki H, Oyama F, Kurosawa M, Washizu C, Doi H, Nukina N.
|
| EMBO J 27(6):827-39. Epub 2008 Feb 21. 2008
|
56 | AGO2, HD, HTT
|
| Huntington's disease protein contributes to RNA-mediated gene silencing through association with Argonaute and P bodies.
|
| Savas JN, Makusky A, Ottosen S, Baillat D, Then F, Krainc D, Shiekhattar R, Markey SP, Tanese N.
|
| Proc Natl Acad Sci U S A 105(31):10820-5. Epub 2008 Jul 31. 2008
|
57 | HTT
|
| Huntingtin phosphorylation acts as a molecular switch for anterograde/retrograde transport in neurons.
|
| Colin E, Zala D, Liot G, Rangone H, Borrell-Pagčs M, Li XJ, Saudou F, Humbert S.
|
| EMBO J 27(15):2124-34. Epub 2008 Jul 10.
2008
|
58 | HTT, ZDHHC13, ZDHHC17
|
| Huntingtin-interacting proteins, HIP14 and HIP14L, mediate dual functions, palmitoyl acyltransferase and Mg2+ transport.
|
| Goytain A, Hines RM, Quamme GA.
|
| J Biol Chem 283(48):33365-74. Epub 2008 Sep 15. 2008
|
59 | BDNF, HD, HTT
|
| Phosphorylation of mutant huntingtin at S421 restores anterograde and retrograde transport in neurons.
|
| Zala D, Colin E, Rangone H, Liot G, Humbert S, Saudou F.
|
| Hum Mol Genet 17(24):3837-46. Epub 2008 Sep 4. 2008
|
60 | DCTN1, HAP1, HTT, REST, RILP
|
| Huntingtin regulates RE1-silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) nuclear trafficking indirectly through a complex with REST/NRSF-interacting LIM domain protein (RILP) and dynactin p150 Glued.
|
| Shimojo M.
|
| J Biol Chem 283(50):34880-6. Epub 2008 Oct 15. 2008
|
61 | HD, HTT
|
| N-terminal mutant huntingtin associates with mitochondria and impairs mitochondrial trafficking.
|
| Orr AL, Li S, Wang CE, Li H, Wang J, Rong J, Xu X, Mastroberardino PG, Greenamyre JT, Li XJ.
|
| J Neurosci 28(11):2783-92.PMID: 18337408 2008
|
62 | HD, HTT
|
| Huntington's disease: from pathology and genetics to potential therapies.
|
| Imarisio S, Carmichael J, Korolchuk V, Chen CW, Saiki S, Rose C, Krishna G, Davies JE, Ttofi E, Underwood BR, Rubinsztein DC.
|
| Biochem J 412(2):191-209. Review.PMID: 18466116 2008
|
63 | HTT, PFN1, PFN2, ROCK1
|
| Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation.
|
| Shao J, Welch WJ, Diprospero NA, Diamond MI.
|
| Mol Cell Biol 28(17):5196-208. doi: 10.1128/MCB.00079-08. Epub 2008 Jun 23. 2008
|
64 | HTT
|
| Wild-type huntingtin participates in protein trafficking between the Golgi and the extracellular space.
|
| Strehlow AN, Li JZ, Myers RM.
|
| Hum Mol Genet 16(4):391-409. Epub 2006 Dec 22. 2007
|
65 | HTT
|
| The first 17 amino acids of Huntingtin modulate its sub-cellular localization, aggregation and effects on calcium homeostasis.
|
| Rockabrand E, Slepko N, Pantalone A, Nukala VN, Kazantsev A, Marsh JL, Sullivan PG, Steffan JS, Sensi SL, Thompson LM.
|
| Hum Mol Genet 16(1):61-77. Epub 2006 Nov 29. 2007
|
66 | HD, HTT
|
| Global changes to the ubiquitin system in Huntington's disease.
|
| Bennett EJ, Shaler TA, Woodman B, Ryu KY, Zaitseva TS, Becker CH, Bates GP, Schulman H, Kopito RR.
|
| Nature 448(7154):704-8. 2007
|
67 | HTT
|
| Huntingtin facilitates dynein/dynactin-mediated vesicle transport.
|
| Caviston JP, Ross JL, Antony SM, Tokito M, Holzbaur EL.
|
| Proc Natl Acad Sci U S A 104(24):10045-50. Epub 2007 Jun 4. 2007
|
68 | CDK5, HTT
|
| Phosphorylation of huntingtin by cyclin-dependent kinase 5 is induced by DNA damage and regulates wild-type and mutant huntingtin toxicity in neurons.
|
| Anne SL, Saudou F, Humbert S.
|
| J Neurosci 27(27):7318-28. 2007
|
69 | HTT
|
| Mutant huntingtin alters MAPK signaling pathways in PC12 and striatal cells: ERK1/2 protects against mutant huntingtin-associated toxicity.
|
| Apostol BL, Illes K, Pallos J, Bodai L, Wu J, Strand A, Schweitzer ES, Olson JM, Kazantsev A, Marsh JL, Thompson LM.
|
| Hum Mol Genet 15(2):273-85. Epub 2005 Dec 5. 2006
|
70 | HTT, HD
|
| Regional and cellular gene expression changes in human Huntington's disease brain.
|
| Hodges A, Strand AD, Aragaki AK, Kuhn A, Sengstag T, Hughes G, Elliston LA, Hartog C, Goldstein DR, Thu D, Hollingsworth ZR, Collin F, Synek B, Holmans PA, Young AB, Wexler NS, Delorenzi M, Kooperberg C, Augood SJ, Faull RL, Olson JM, Jones L, Luthi-Carter R.
|
| Hum Mol Genet 15(6):965-77. Epub 2006 Feb 8. 2006
|
71 | HTT, UBQLN1, HD
|
| Suppression of polyglutamine-induced toxicity in cell and animal models of Huntington's disease by ubiquilin.
|
| Wang H, Lim PJ, Yin C, Rieckher M, Vogel BE, Monteiro MJ.
|
| Hum Mol Genet 15(6):1025-41. Epub 2006 Feb 6. 2006
|
72 | HTT, HD
|
| Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin.
|
| Graham RK, Deng Y, Slow EJ, Haigh B, Bissada N, Lu G, Pearson J, Shehadeh J, Bertram L, Murphy Z, Warby SC, Doty CN, Roy S, Wellington CL, Leavitt BR, Raymond LA, Nicholson DW, Hayden MR.
|
| Cell 125(6):1179-91. 2006
|
73 | PPARGC1A, HTT
|
| Transcriptional repression of PGC-1alpha by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration.
|
| Cui L, Jeong H, Borovecki F, Parkhurst CN, Tanese N, Krainc D.
|
| Cell 127(1):59-69. 2006
|
74 | HTT
|
| Deletion of the triplet repeat encoding polyglutamine within the mouse Huntington's disease gene results in subtle behavioral/motor phenotypes in vivo and elevated levels of ATP with cellular senescence in vitro.
|
| Clabough EB, Zeitlin SO.
|
| Hum Mol Genet. 15(4):607-23. 2006
|
75 | F8A1, HTT, RAB5A
|
| Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is up-regulated in Huntington's disease.
|
| Pal A, Severin F, Lommer B, Shevchenko A, Zerial M.
|
| J Cell Biol 172(4):605-18.
2006
|
76 | HCRT, HTT, HD
|
| Orexin loss in Huntington's disease.
|
| Petersen A, Gil J, Maat-Schieman ML, Bjorkqvist M, Tanila H, Araujo IM, Smith R, Popovic N, Wierup N, Norlen P, Li JY, Roos RA, Sundler F, Mulder H, Brundin P.
|
| Hum Mol Genet 14(1):39-47. Epub 2004 Nov 03. 2005
|
77 | HTT, TPR, HD
|
| Polyglutamine expansion of huntingtin impairs its nuclear export.
|
| Cornett J, Cao F, Wang CE, Ross CA, Bates GP, Li SH, Li XJ.
|
| Nat Genet 37(2):198-204. Epub 2005 Jan 16. 2005
|
78 | HTT, HD
|
| Inclusions to the rescue? Neuroprotective role for huntingtin inclusions in HD.
|
| Slow E.
|
| Clin Genet 67(3):228-9. No abstract available. 2005
|
79 | HTT, HD
|
| Disturbed Ca2+ signaling and apoptosis of medium spiny neurons in Huntington's disease.
|
| Tang TS, Slow E, Lupu V, Stavrovskaya IG, Sugimori M, Llinas R, Kristal BS, Hayden MR, Bezprozvanny I.
|
| Proc Natl Acad Sci U S A 102(7):2602-7. Epub 2005 Feb 3. 2005
|
80 | HTT, KMO
|
| A genomic screen in yeast implicates kynurenine 3-monooxygenase as a therapeutic target for Huntington disease.
|
| Giorgini F, Guidetti P, Nguyen Q, Bennett SC, Muchowski PJ.
|
| Nat Genet 37(5):526-31. Epub 2005 Apr 3. 2005
|
81 | HTT
|
| Huntingtin phosphorylation on serine 421 is significantly reduced in the striatum and by polyglutamine expansion in vivo.
|
| Warby SC, Chan EY, Metzler M, Gan L, Singaraja RR, Crocker SF, Robertson HA, Hayden MR.
|
| Hum Mol Genet 14(11):1569-77. Epub 2005 Apr 20. 2005
|
82 | HTT, HD
|
| HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism.
|
| Seong IS, Ivanova E, Lee JM, Choo YS, Fossale E, Anderson M, Gusella JF, Laramie JM, Myers RH, Lesort M, Macdonald ME.
|
| Hum Mol Genet 14(19):2871-80. Epub 2005 Aug 22. 2005
|
83 | PLS3, LCP1, ATXN2, HTT, SH3GL3, SH3GL2
|
| Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways.
|
| Ralser M, Nonhoff U, Albrecht M, Lengauer T, Wanker EE, Lehrach H, Krobitsch S.
|
| Hum Mol Genet 14(19):2893-2909. Epub 2005 Aug 22. 2005
|
84 | HTT, HD
|
| Contribution of nuclear and extranuclear polyQ to neurological phenotypes in mouse models of Huntington's disease.
|
| Benn CL, Landles C, Li H, Strand AD, Woodman B, Sathasivam K, Li SH, Ghazi-Noori S, Hockly E, Faruque SM, Cha JH, Sharpe PT, Olson JM, Li XJ, Bates GP.
|
| Hum Mol Genet 14(20):3065-78. Epub 2005 Sep 23. 2005
|
85 | HTT
|
| Normal huntingtin function: an alternative approach to Huntington's disease.
|
| Cattaneo E, Zuccato C, Tartari M.
|
| Nat Rev Neurosci 6(12):919-30. Review. 2005
|
86 | HTT
|
| Mutant huntingtin represses CBP, but not p300, by binding and protein degradation.
|
| Cong SY, Pepers BA, Evert BO, Rubinsztein DC, Roos RA, van Ommen GJ, Dorsman JC.
|
| Mol Cell Neurosci. 30(4):560-71. 2005
|
87 | HTT
|
| SUMO modification of Huntingtin and Huntington's disease pathology.
|
| Steffan JS, Agrawal N, Pallos J, Rockabrand E, Trotman LC, Slepko N, Illes K, Lukacsovich T, Zhu YZ, Cattaneo E, Pandolfi PP, Thompson LM, Marsh JL.
|
| Science 304(5667):100-4. 2004
|
88 | BDNF, HTT, HAP1, DCTN1
|
| Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules.
|
| Gauthier LR, Charrin BC, Borrell-Pages M, Dompierre JP, Rangone H, Cordelieres FP, De Mey J, MacDonald ME, Lessmann V, Humbert S, Saudou F.
|
| Cell 118(1):127-38. 2004
|
89 | HTT
|
| Cellular toxicity of polyglutamine expansion proteins: mechanism of transcription factor deactivation.
|
| Schaffar G, Breuer P, Boteva R, Behrends C, Tzvetkov N, Strippel N, Sakahira H, Siegers K, Hayer-Hartl M, Hartl FU.
|
| Mol Cell. 15(1):95-105. 2004
|
90 | HTT
|
| Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington's disease.
|
| Hermel E, Gafni J, Propp SS, Leavitt BR, Wellington CL, Young JE, Hackam AS, Logvinova AV, Peel AL, Chen SF, Hook V, Singaraja R, Krajewski S, Goldsmith PC, Ellerby HM, Hayden MR, Bredesen DE, Ellerby LM.
|
| Cell Death Differ. 11(4):424-38. 2004
|
91 | HTT
|
| Cell death triggered by polyglutamine-expanded huntingtin in a neuronal cell line is associated with degradation of CREB-binding protein.
|
| Jiang H, Nucifora FC Jr, Ross CA, DeFranco DB.
|
| Hum Mol Genet 12(1):1-12. 2003
|
92 | HTT
|
| Transcriptional abnormalities in Huntington disease.
|
| Sugars KL, Rubinsztein DC.
|
| Trends Genet 19(5):233-8. Review. 2003
|
93 | HTT
|
| Raised intracellular glucose concentrations reduce aggregation and cell death caused by mutant huntingtin exon 1 by decreasing mTOR phosphorylation and inducing autophagy.
|
| Ravikumar B, Stewart A, Kita H, Kato K, Duden R, Rubinsztein DC.
|
| Hum Mol Genet 12(9):985-94. 2003
|
94 | HAT1, HTT, MAP3K10, NEUROD1
|
| Stimulation of NeuroD activity by huntingtin and huntingtin-associated proteins HAP1 and MLK2.
|
| Marcora E, Gowan K, Lee JE.
|
| Proc Natl Acad Sci U S A 100(16):9578-83. Epub 2003 Jul 24. 2003
|
95 | HD, HTT
|
| Mechanisms of neuronal cell death in Huntington's disease.
|
| Sawa A, Tomoda T, Bae BI.
|
| Cytogenet Genome Res 100(1-4):287-95. 2003
|
96 | HTT, REST
|
| Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes.
|
| Zuccato C, Tartari M, Crotti A, Goffredo D, Valenza M, Conti L, Cataudella T, Leavitt BR, Hayden MR, Timmusk T, Rigamonti D, Cattaneo E.
|
| Nat Genet 35(1):76-83. Epub 2003 Jul 27. 2003
|
97 | HD, HTT
|
| Huntington's disease: a synaptopathy?
|
| Li JY, Plomann M, Brundin P.
|
| Trends Mol Med 9(10):414-20. Review. 2003
|
98 | HTT
|
| Cdc42-interacting protein 4 binds to huntingtin: neuropathologic and biological evidence for a role in Huntington's disease.
|
| Holbert S, Dedeoglu A, Humbert S, Saudou F, Ferrante RJ, Néri C.
|
| Proc Natl Acad Sci U S A. 100(5):2712-7. 2003
|
99 | HD, HTT, IFT57
|
| Accomplices to neuronal death.
|
| Mattson MP.
|
| Nature 415(6870):377-9. No abstract available. 2002
|
100 | HTT, ZDHHC13, ZDHHC17
|
| HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis.
|
| Singaraja RR, Hadano S, Metzler M, Givan S, Wellington CL, Warby S, Yanai A, Gutekunst CA, Leavitt BR, Yi H, Fichter K, Gan L, McCutcheon K, Chopra V, Michel J, Hersch SM, Ikeda JE, Hayden MR.
|
| Hum Mol Genet 11(23):2815-28. 2002
|
101 | HTT
|
| Huntingtin is present in the nucleus, interacts with the transcriptional corepressor C-terminal binding protein, and represses transcription.
|
| Kegel KB, Meloni AR, Yi Y, Kim YJ, Doyle E, Cuiffo BG, Sapp E, Wang Y, Qin ZH, Chen JD, Nevins JR, Aronin N, DiFiglia M.
|
| J Biol Chem. 277(9):7466-76. 2002
|
102 | HTT
|
| The IGF-1/Akt pathway is neuroprotective in Huntington's disease and involves Huntingtin phosphorylation by Akt.
|
| Humbert S, Bryson EA, Cordeličres FP, Connors NC, Datta SR, Finkbeiner S, Greenberg ME, Saudou F.
|
| Dev Cell. 2(6):831-7. 2002
|
103 | HTT
|
| PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains.
|
| Modregger J, DiProspero NA, Charles V, Tagle DA, Plomann M.
|
| Hum Mol Genet. 11(21):2547-58. 2002
|
104 | HTT
|
| Interaction of Huntington disease protein with transcriptional activator Sp1.
|
| Li SH, Cheng AL, Zhou H, Lam S, Rao M, Li H, Li XJ.
|
| Mol Cell Biol. 22(5):1277-87. 2002
|
105 | HTT
|
| Perinuclear localization of huntingtin as a consequence of its binding to microtubules through an interaction with beta-tubulin: relevance to Huntington's disease.
|
| Hoffner G, Kahlem P, Djian P.
|
| J Cell Sci. 115(Pt 5):941-8. 2002
|
106 | HTT
|
| Altered proteasomal function due to the expression of polyglutamine-expanded truncated N-terminal huntingtin induces apoptosis by caspase activation through mitochondrial cytochrome c release.
|
| Jana NR, Zemskov EA, Wang Gh, Nukina N.
|
| Hum Mol Genet 10(10):1049-59. 2001
|
107 | HD, HTT
|
| Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease.
|
| Zuccato C, Ciammola A, Rigamonti D, Leavitt BR, Goffredo D, Conti L, MacDonald ME, Friedlander RM, Silani V, Hayden MR, Timmusk T, Sipione S, Cattaneo E.
|
| Science 293(5529):493-8. 2001
|
108 | HTT
|
| Centrosome disorganization in fibroblast cultures derived from R6/2 Huntington's disease (HD) transgenic mice and HD patients.
|
| Sathasivam K, Woodman B, Mahal A, Bertaux F, Wanker EE, Shima DT, Bates GP.
|
| Hum Mol Genet 10(21):2425-35. 2001
|
109 | F8A1, HTT
|
| Isolation of a 40-kDa Huntingtin-associated protein.
|
| Peters MF, Ross CA.
|
| J Biol Chem 276(5):3188-94. 2001
|
110 | HTT
|
| Functional characterization of the human Huntington's disease gene promoter.
|
| Holzmann C, Schmidt T, Thiel G, Epplen JT, Riess O.
|
| Brain Res Mol Brain Res 92(1-2):85-97. 2001
|
111 | HTT
|
| Polyglutamine-expanded huntingtin promotes sensitization of N-methyl-D-aspartate receptors via post-synaptic density 95.
|
| Sun Y, Savanenin A, Reddy PH, Liu YF.
|
| J Biol Chem. 276(27):24713-8. 2001
|
112 | HTT
|
| Huntingtin is required for normal hematopoiesis.
|
| Metzler M, Helgason CD, Dragatsis I, Zhang T, Gan L, Pineault N, Zeitlin SO, Humphries RK, Hayden MR.
|
| Hum Mol Genet 9(3):387-394 2000
|
113 | HD, HTT
|
| Motor disorder in Huntington's disease begins as a dysfunction in error feedback control.
|
| Smith MA, Brandt J, Shadmehr R.
|
| Nature 403(6769):544-9. 2000
|
114 | CREBBP, HD, HTT, TP53
|
| The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription.
|
| Steffan JS, Kazantsev A, Spasic-Boskovic O, Greenwald M, Zhu YZ, Gohler H, Wanker EE, Bates GP, Housman DE, Thompson LM.
|
| Proc Natl Acad Sci U S A 97(12):6763-8. 2000
|
115 | HTT
|
| Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells.
|
| Trettel F, Rigamonti D, Hilditch-Maguire P, Wheeler VC, Sharp AH, Persichetti F, Cattaneo E, MacDonald ME.
|
| Hum Mol Genet 9(19):2799-809. 2000
|
116 | HTT
|
| Intranuclear huntingtin increases the expression of caspase-1 and induces apoptosis.
|
| Li SH, Lam S, Cheng AL, Li XJ.
|
| Hum Mol Genet 9(19):2859-67. 2000
|
117 | FBL, HTT, PRPF40A, SETD2
|
| Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles.
|
| Hilditch-Maguire P, Trettel F, Passani LA, Auerbach A, Persichetti F, MacDonald ME.
|
| Hum Mol Genet 9(19):2789-97. 2000
|
118 | HTT
|
| Huntingtin expression stimulates endosomal-lysosomal activity, endosome tubulation, and autophagy.
|
| Kegel KB, Kim M, Sapp E, McIntyre C, Castano JG, Aronin N, DiFiglia M.
|
| J Neurosci 20(19):7268-78. 2000
|
119 | HIP1, HIP1R, HTT
|
| HIP12 is a non-proapoptotic member of a gene family including HIP1, an interacting protein with huntingtin.
|
| Chopra VS, Metzler M, Rasper DM, Engqvist-Goldstein AE, Singaraja R, Gan L, Fichter KM, McCutcheon K, Drubin D, Nicholson DW, Hayden MR.
|
| Mamm Genome 11(11):1006-15. 2000
|
120 | HTT, MAP3K10
|
| Activation of MLK2-mediated signaling cascades by polyglutamine-expanded huntingtin.
|
| Liu YF, Dorow D, Marshall J.
|
| J Biol Chem 275(25):19035-40. 2000
|
121 | HTT
|
| FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis.
|
| Hattula K, Peränen J.
|
| Curr Biol. 10(24):1603-6. 2000
|
122 | HTT
|
| In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease.
|
| Hackam AS, Singaraja R, Zhang T, Gan L, Hayden MR.
|
| Hum Mol Genet 8 : 25-33. 1999
|
123 | HTT
|
| Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism.
|
| Leeflang EP, et al.
|
| Hum Mol Genet 8 : 173-183. 1999
|
124 | HTT, TGM2
|
| Transglutaminase aggregates huntingtin into nonamyloidogenic polymers, and its enzymatic activity increases in Huntington's disease brain nuclei.
|
| Karpuj MV, et al.
|
| Proc Natl Acad Sci U S A 96(13):7388-93. 1999
|
125 | HTT
|
| A molecular investigation of true dominance in Huntington's disease.
|
| Narain Y, et al.
|
| J Med Genet 36(10):739-46 1999
|
126 | GAPDH, HAP1, HTT, HIP1, UBE2K
|
| Recent advances on the pathogenesis of Huntington's disease.
|
| Petersen A, Mani K, Brundin P.
|
| Exp Neurol 157(1):1-18. Review. 1999
|
127 | HTT
|
| Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin.
|
| Boutell JM, Thomas P, Neal JW, Weston VJ, Duce J, Harper PS, Jones AL.
|
| Hum Mol Genet. 8(9):1647-55. 1999
|
128 | HTT
|
| Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates.
|
| Martindale D, Hackam A, Wieczorek A, Ellerby L, Wellington C, McCutcheon K, Singaraja R, Kazemi-Esfarjani P, Devon R, Kim SU, Bredesen DE, Tufaro F, Hayden MR.
|
| Nat Genet 18(2):150-4. 1998
|
129 | HTT
|
| The influence of huntingtin protein size on nuclear localization and cellular toxicity.
|
| Hackam AS, et al.
|
| J Cell Biol 141 : 1097-1105. 1998
|
130 | HTT
|
| A cellular model that recapitulates major pathogenic steps of Huntington's disease.
|
| Lunkes A, et al.
|
| Hum Mol Genet 7 : 1355-1361. 1998
|
131 | TGM2, HTT
|
| Transglutaminase action imitates Huntington's disease: selective polymerization of Huntingtin containing expanded polyglutamine.
|
| Kahlem P, et al.
|
| Mol Cell 1(4):595-601. 1998
|
132 | CBS, HTT
|
| Huntingtin interacts with cystathionine beta-synthase.
|
| Boutell JM, et al.
|
| Hum Mol Genet 7(3):371-8. 1998
|
133 | HD, HTT
|
| Molecular aspects of Huntington's disease.
|
| Walling HW, et al.
|
| J Neurosci Res 54(3):301-8. Review. 1998
|
134 | AP2A1, AP2A2, C15orf63, CXorf27, FICD, HTT, PRPF40A, PRPF40B, SETD2, SYMPK, ZDHHC17
|
| Huntingtin interacts with a family of WW domain proteins.
|
| Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME.
|
| Hum Mol Genet 7(9):1463-74. 1998
|
135 | HAP1, HTT
|
| A human HAP1 homologue. Cloning, expression, and interaction with huntingtin.
|
| Li SH, Hosseini SH, Gutekunst CA, Hersch SM, Ferrante RJ, Li XJ.
|
| J Biol Chem 273(30):19220-7. 1998
|
136 | HTT
|
| SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates.
|
| Sittler A, Wälter S, Wedemeyer N, Hasenbank R, Scherzinger E, Eickhoff H, Bates GP, Lehrach H, Wanker EE.
|
| Mol Cell. 2(4):427-36. 1998
|
137 | HTT, HIP1
|
| HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain.
|
| Kalchman MA, et al.
|
| Nat Genet 16 : 44-53. 1997
|
138 | HTT
|
| Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion.
|
| White JK, Auerbach W, Duyao MP, Vonsattel JP, Gusella JF, Joyner AL, MacDonald ME.
|
| Nat Genet 17(4):404-10. 1997
|
139 | EGFR, HTT
|
| SH3 domain-dependent association of huntingtin with epidermal growth factor receptor signaling complexes.
|
| Liu YF, et al.
|
| J Biol Chem 272(13):8121-4. 1997
|
140 | HTT
|
| Huntington's disease gene product, huntingtin, associates with microtubules in vitro.
|
| Tukamoto T, et al.
|
| Brain Res Mol Brain Res 51(1-2):8-14. 1997
|
141 | ATN1, HTT
|
| Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy.
|
| Connarty M, et al.
|
| Hum Genet 97 : 76-78. 1996
|
142 | HTT
|
| Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.
|
| Rubinsztein DC, et al.
|
| Am J Hum Genet 59 : 16-22. 1996
|
143 | HTT
|
| Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract.
|
| Goldberg YP, et al.
|
| Nat Genet 13 : 442-449. 1996
|
144 | HTT
|
| Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice.
|
| Mangiarini L, et al.
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| Cell 87 : 493-506. 1996
|
145 | ATXN1, HTT
|
| Genetic fitness in Huntington's disease and spinocerebellar ataxia 1 : a population genetics model for CAG repeat expansions.
|
| Frontali M, et al.
|
| Ann Hum Genet 60 : 423-435. 1996
|
146 | CALM1, HD, HTT
|
| Expansion of polyglutamine repeat in huntingtin leads to abnormal protein interactions involving calmodulin.
|
| Bao J, et al.
|
| Proc Natl Acad Sci U S A 93(10):5037-42. 1996
|
147 | HTT, UBE2K
|
| Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme.
|
| Kalchman MA, Graham RK, Xia G, Koide HB, Hodgson JG, Graham KC, Goldberg YP, Gietz RD, Pickart CM, Hayden MR.
|
| J Biol Chem. 271(32):19385-94. 1996
|
148 | HD, HTT
|
| Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.
|
| Telenius H, et al.
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| Hum Mol Genet 4 : 189-195. 1995
|
149 | HD, HTT
|
| Ancestral differences in the distribution of the delta2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes : insights into the genetic evolution of Huntington disease.
|
| Almqvist E, et al.
|
| Hum Mol Genet 4 : 207-214. 1995
|
150 | HD, HTT
|
| Haplotype analysis of the delta2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent 'founder' HD haplotype.
|
| Rubinsztein DC, et al.
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| Hum Mol Genet 4 : 203-206. 1995
|
151 | HD, HTT
|
| Somatic expansion of the (CAG)n repeat in Huntington disease brains.
|
| De Rooij KE, et al.
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| Hum Genet 95 : 270-274. 1995
|
152 | ATXN1, HD, HTT, MJD
|
| Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias.
|
| Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L, et al.
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| Nature 378 : 403-406. 1995
|
153 | HTT
|
| Stability of the Huntington disease (CAG)n repeat in a late-onset form occurring on the Island of Crete.
|
| Tzagournissakis M, et al.
|
| Hum Mol Genet 4 : 2239-2243. 1995
|
154 | HTT
|
| Structural analysis of the 5' region of mouse and human Huntington disease genes reveals conservation of putative promoter region and Di- and trinucleotide polymorphisms.
|
| Lin B, et al.
|
| Genomics 25 : 707-715. 1995
|
155 | HTT
|
| Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus : report of a family.
|
| Yapijakis C, et al.
|
| Clin Genet 47 : 133-138. 1995
|
156 | HTT
|
| Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form.
|
| Trottier Y, et al.
|
| Nat Genet 10 : 104-110. 1995
|
157 | HTT
|
| Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.
|
| Pcheux C, et al.
|
| J Med Genet 32 : 399-400. 1995
|
158 | HTT
|
| Expression of the Huntington disease gene in rodents : cloning the rat homologue and evidence for downregulation in non-neuronal tissues during development.
|
| Schmitt I, et al.
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| Hum Mol Genet 4 : 1173-1182. 1995
|
159 | HTT
|
| Inactivation of the mouse Huntington's disease gene homolog Hdh.
|
| Duyao MP, et al.
|
| Science 269 : 407-410. 1995
|
160 | HTT
|
| Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes.
|
| Nasir J, et al.
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| Cell 81 : 811-823. 1995
|
161 | HTT
|
| Expression of the Huntington's disease (IT15) protein product in HD patients.
|
| Schilling G, et al.
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| Hum Mol Genet 4 : 1365-1371. 1995
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162 | HTT
|
| A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene : implications for diagnostic accuracy and predictive testing.
|
| Andrew SE, et al.
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| Hum Mol Genet 3 : 65-67. 1994
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163 | HTT
|
| Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene.
|
| Hummerich H, et al.
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| Hum Mol Genet 3 : 73-78. 1994
|
164 | HTT
|
| Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.
|
| Telenius H, et al.
|
| Nat Genet 6 : 409-414. 1994
|
165 | HTT
|
| A Sau3A polymorphism in the 5' end of the IT15 gene that nonrandomly segregates with the Huntington disease trinucleotide expansion.
|
| Carlock L, et al.
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| Hum Genet 93 : 457-459. 1994
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166 | HD, HTT
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| A worldwide study of the Huntington's disease mutation.
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| Kremer B, et al.
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| N Engl J Med 330 : 1401-1406. 1994
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167 | HTT
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| Huntington disease without CAG expansion : phenocopies or errors in assignment ?
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| Andrdew SE, et al.
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| Am J Hum Genet 54 : 852-863. 1994
|
168 | HTT
|
| Instability of CAG repeats in Huntington's disease : relation to parental transmission and age of onset.
|
| Trottier Y, et al.
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| J Med Genet 31 : 377-382. 1994
|
169 | HTT
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| Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease.
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| Novelletto A, et al.
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| Hum Mol Genet 3 : 1129-1132. 1994
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170 | HTT, ADD1
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| The murine homologues of the Huntington disease gene (Hdh) and the alpha-adducin gene (Add1) map to mouse chromosome 5 within a region of conserved synteny with human chromosome 4p16.3.
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| Genomics 22 : 198-201. 1994
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171 | HTT
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| Mutation analysis in patients with possible but apparently sporadic Huntington's disease.
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| Lancet 344 : 714-717. 1994
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172 | LRPAP1, ADD1, HTT, CD1R2L
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| Identification of genes within CpG-enriched DNA from human chromosome 4p16.3.
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| Hum Mol Genet 3 : 1611-1616. 1994
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173 | HTT
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| DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence.
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| Hum Mol Genet 3 : 2103-2114. 1994
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174 | HTT
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| Structure and expression of the Huntington's disease gene : evidence against simple inactivation due to an expanded CAG repeat.
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| Somat Cell Mol Genet 20 : 27-38. 1994
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175 | HTT
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| The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library.
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| Snell RG, et al.
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| Hum Mol Genet 2 : 305-309. 1993
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176 | HTT
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| Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease.
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| Goldberg YP, et al.
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| Nature 362 : 370-373. 1993
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177 | HTT
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| Hoogeveen AT, et al.
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| Hum Mol Genet 2 : 2069-2073. 1993
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178 | HTT
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| Significant linkage disequilibrium between the Huntington's disease locus and markers at loci D4S10, D4S95, and D4S111 in Northern Ireland.
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| J Med Genet 30 : 1018-1019. 1993
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179 | HD, HTT
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| A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.
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| Cell 72 : 971-983. 1993
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180 | HTT
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| A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene.
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| Nat Genet 4 : 181-186. 1993
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181 | HTT, D4S10
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| Construction of cosmid contigs and high-resolution restriction mapping of the Huntington disease region of human chromosome 4.
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| Zuo J, et al.
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| Hum Mol Genet 2 : 889-899. 1993
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182 | HTT
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| A transcription map of the region containing the Huntington disease gene.
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| Hum Mol Genet 2 : 901-907. 1993
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183 | HTT
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| The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD.
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| Am J Hum Genet 53 : 125-130. 1993
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184 | HTT
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| Defining the proximal border of the Huntington disease candidate region by multipoint recombination analyses.
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| Skraastad MI, et al.
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| Genomics 16 : 599-604. 1993
|
185 | HTT
|
| The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease.
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| Andrew SE, et al.
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| Nat Genet 4 : 398-403. 1993
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186 | HTT
|
| Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.
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| Snell RG, et al.
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| Nat Genet 4 : 393-397. 1993
|
187 | AR, HTT, DM1, FMR1
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| Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins.
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| Richards RI, et al.
|
| Hum Mol Genet 2 : 1429-1435. 1993
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188 | HD, HTT
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| Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin.
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| Hum Mol Genet 2 : 1467-1469. 1993
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189 | HTT
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| Molecular analysis of juvenile Huntington disease : the major influence on (CAG)n repeat length is the sex of the affected parent.
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| Hum Mol Genet 2 : 1535-1540. 1993
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190 | HTT
|
| Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression.
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| Lin B, et al.
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| Hum Mol Genet 2 : 1541-1545. 1993
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191 | HTT
|
| Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15.
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| Hum Mol Genet 2 : 1547-1549. 1993
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192 | HTT
|
| Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number.
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| Rubinsztein DC, et al.
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| Hum Mol Genet 2 : 1713-1715. 1993
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193 | HTT
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| Molecular analysis and clinical correlations of the Huntington's disease mutation.
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| Lancet 342 : 954-958. 1993
|
194 | HD, HTT
|
| De novo expansion of a (CAG)n repeat in sporadic Huntington's disease.
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| Myers RH, et al.
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| Nat Genet 5 : 168-173. 1993
|
195 | HTT
|
| Molecular analysis of new mutations for Huntington's disease : intermediate alleles and sex of origin effects.
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| Goldberg YP, et al.
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| Nat Genet 5 : 174-179. 1993
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196 | HD, HTT
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| Characterization and localization of the Huntington disease gene product.
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1993
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197 | HTT
|
| Isolation and characterization of new highly polymorphic DNA markers from the Huntington disease region.
|
| Weber B, et al.
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| Am J Hum Genet 50 : 382-393. 1992
|
198 | HTT
|
| Nonrandom association between Huntington disease and two loci separated by about 3 Mb on 4p16.3.
|
| Andrew S, et al.
|
| Genomics 13 : 301-311. 1992
|
199 | HTT
|
| Recombination of 4p16 DNA markers in an unusual family with Huntington disease.
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| Pritchard C, et al.
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| Am J Hum Genet 50 : 1218-1230. 1992
|
200 | HD, HTT
|
| Cloning of the Huntington disease region in yeast artificial chromosomes.
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| Zuo J, et al.
|
| Hum Mol Genet 1 : 149-159. 1992
|
201 | HTT
|
| A recombination event that redefines the Huntington disease region.
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| Snell RG, et al.
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| Am J Hum Genet 51 : 357-362. 1992
|
202 | HTT
|
| An estimate of the number of genes in the huntington disease gene region and the identification of 13 transcripts in the 4p16.3 segment.
|
| Carlock L, et al.
|
| Genomics 13 : 1108-1118. 1992
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203 | HTT
|
| Radiation hybrid map spanning the Huntington disease gene region of chromosome 4.
|
| Altherr MR, et al.
|
| Genomics 13 : 1040-1046. 1992
|
204 | HTT
|
| The Huntington's disease candidate region exhibits many different haplotypes.
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| MacDonald ME, et al.
|
| Nat Genet 1 : 99-103. 1992
|
205 | HTT, PDE6B
|
| Exclusion of DNA changes in the beta-subunit of the c-GMP phosphodiesterase gene as the cause for Huntington's disease.
|
| Riess O, et al.
|
| Nat Genet 1 : 104-108. 1992
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206 | HTT
|
| Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region.
|
| Bates GP, et al.
|
| Nat Genet 1 : 180-187. 1992
|
207 | ADD1, HTT
|
| Cloning of the alpha-adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification.
|
| Taylor SAM, et al.
|
| Nat Genet 2 : 223-227. 1992
|
208 | HTT
|
| Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease.
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| Weber B, et al.
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| Nat Genet 2 : 216-222. 1992
|
209 | HTT
|
| Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3.
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| McCombie WR, et al.
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| Nat Genet 1 : 348-353. 1992
|
210 | HTT
|
| Significant linkage disequilibrium between the Huntington disease gene and the loci D4S10 and D4S95 in the Dutch population.
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| Skraastad MI, et al.
|
| Am J Hum Genet 51 : 730-735. 1992
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211 | HTT
|
| Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4.
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| Allitto BA, et al.
|
| Mol Cell Probes 6 : 513-520. 1992
|
212 | HTT
|
| Defined physical limits of the Huntington disease gene candidate region.
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| Am J Hum Genet 49 : 7-16. 1991
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213 | HTT
|
| Linkage disequilibrium and the Huntington's disease gene.
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| (HGM11) Cytogenet Cell Genet 58 : 1890. 1991
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214 | HTT
|
| Identification of new polymorphic DNA markers from a candidate region for the HD gene.
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| Weber B, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 1891. 1991
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215 | HTT
|
| Two cloned Alu-PCR-products from Huntington disease region.
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| de Rooij KE, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 1892. 1991
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216 | HTT
|
| Complex patterns of linkage disequilibrium in the Huntington disease region.
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| MacDonald ME, et al.
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| Am J Hum Genet 49 : 723-734. 1991
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217 | HTT
|
| Identification of multiple CpG islands and associated conserved sequences in a candidate region for the Huntington disease gene.
|
| Weber B, et al.
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| Genomics 11 : 1113-1124. 1991
|
218 | HTT
|
| New DNA markers in the Huntington's disease gene candidate region.
|
| Lin CS, et al.
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| Somat Cell Mol Genet 17 : 481-488. 1991
|
219 | HTT
|
| Linkage disequilibrium and recombination make a telomeric site for the Huntington's disease gene unlikely.
|
| Barron L, et al.
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| J Med Genet 28 : 520-522. 1991
|
220 | HTT
|
| Linkage disequilibrium and modification of risk for Huntington disease.
|
| Adam S, et al.
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| Am J Hum Genet 48 : 595-603. 1991
|
221 | HTT
|
| Mapping of cosmid clones in Huntington's disease region of chromosome 4.
|
| Whaley WL, et al.
|
| Somat Cell Mol Genet 17 : 83-91. 1991
|
222 | HTT
|
| A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.
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| Bates GP, et al.
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| Am J Hum Genet 46 : 762-775. 1990
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223 | HTT
|
| Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation.
|
| Bucan M, et al.
|
| Genomics 6 : 1-15. 1990
|
224 | HTT
|
| A cloned DNA segment from the telomeric region of human chromosome 4p is not detectably rearranged in Huntington disease patients.
|
| Pritchard C, et al.
|
| Proc Natl Acad Sci U S A 87 : 7309-7313. 1990
|
225 | HTT, D4S10
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| Mapping of recombinants near the Huntington disease locus by using G8 (D4S10) and newly isolated markers in the D4S10 region.
|
| Skraastad MI, et al.
|
| Am J Hum Genet 44 : 560-566. 1989
|
226 | HD, HTT
|
| Huntington disease : no evidence for locus heterogeneity.
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| Conneally PM, Haines JL, Tanzi RE, Wexler NS, Penchaszadeh GK, Harper PS, Folstein SE, Cassiman JJ, Myers RH, Young AB, et al.
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| Genomics 5 : 304-308. 1989
|
227 | HD, HTT
|
| Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90.
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| Robbins C, Theilmann J, Youngman S, Haines J, Altherr MJ, Harper PS, Payne C, Junker A, Wasmuth J, Hayden MR.
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| Am J Hum Genet 44 : 422-425. 1989
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228 | HTT
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| Predictive testing for Huntington's disease with linked DNA markers.
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| Brock DJH, et al.
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| Lancet II : 463-466. 1989
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229 | HTT
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| Linkage disequilibrium in Huntington's disease: an improved localisation for the gene.
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| Snell RG, et al.
|
| J Med Genet 26 : 673-675. 1989
|
230 | HTT, D4S90
|
| A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene.
|
| Youngman S, et al.
|
| Genomics 5 : 802-809. 1989
|
231 | HTT
|
| Inability to map the location of the Huntington disease gene due to conflicting recombination events with closely linked DNA markers.
|
| Quarell OWJ, et al.
|
| Am J Hum Genet 45 : A158. 1989
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232 | HD, HTT
|
| The Huntington disease locus is most likely within 325 kilobases of the chromosome 4p telomere.
|
| Doggett NA, et al.
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| Proc Natl Acad Sci U S A 86 : 10011-10014. 1989
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233 | HTT
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| Clustering of multiallele DNA markers near the Huntington's disease gene.
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| MacDonald ME, Cheng SV, Zimmer M, Haines JL, Poustka A, Allitto B, Smith B, Whaley WL, Romano DM, Jagadeesh J, et al.
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| J Clin Invest 84 : 1013-1016. 1989
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234 | HTT, D4S95, D4S98
|
| Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.
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| Theilmann J, Kanani S, Shiang R, Robbins C, Quarrell O, Huggins M, Hedrick A, Weber B, Collins C, Wasmuth JJ, et al.
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| J Med Genet 26 : 676-681. 1989
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235 | HTT
|
| Prenatal exclusion testing for Huntington disease using the polymerase chain reaction.
|
| McIntosh I, et al.
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| Am J Med Genet 32 : 274-276. 1989
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236 | HTT, D4S10, D4S81, D4S82
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| Chromosome jumping from D4S10 (G8) toward the Huntington disease gene.
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| Richards JE, Gilliam TC, Cole JL, Drumm ML, Wasmuth JJ, Gusella JF, Collins FS.
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| Proc Natl Acad Sci U S A 85 : 6437-6441. 1988
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237 | HTT, D4S113, D4S114
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| Mapping of D4S98/S114/S113 confines the Hungtinton's defect to a reduced physical region at the telomere of chromosome 4.
|
| Whaley WL, Michiels F, MacDonald ME, Romano D, Zimmer M, Smith B, Leavitt J, Bucan M, Haines JL, Gilliam TC, et al.
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| Nucleic Acids Res 16 : 11769-11780. 1988
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238 | D4S62, HTT
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| A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington disease gene.
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| Hayden MR, et al.
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| Am J Hum Genet 42 : 125-131. 1988
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239 | HTT, D4S95
|
| A highly polymorphic locus very tightly linked to the Huntington's disease gene.
|
| Wasmuth JJ, et al.
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| Nature 332 : 734-736. 1988
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240 | HTT, D4S95, D4S96, D4S97, D4S98, D4S99
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| Isolation of DNA markers in the direction of the Huntington disease gene from the G8 locus.
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| Smith B, et al.
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| Am J Hum Genet 42 : 335-344. 1988
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241 | D4S10, HTT
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| Sequence analysis of three polymorphic regions in the human genome detected by the G8 probe for RFLPs associated with Huntington's disease.
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| Stapleton PM.
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| Nucleic Acids Res 16 : 2735. 1988
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242 | HD, HTT
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| The gene causing Huntington disease is telomeric to a variable number of tandem repeat (VNTR) polymorphism detected by D4S95 and a new DNA marker D4S90.
|
| Hayden MR, et al.
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| Am J Hum Genet 43 : A86. 1988
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243 | HTT, D4S10
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| Further evidence for the lack of heterogeneity of linkage of Huntington disease to D4S10.
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| Haines JL, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 625. 1987
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244 | HTT, D4S10
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| Extension of the Huntington's disease marker D4S10 by cosmid walking.
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| Skraastad MI, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 693. 1987
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245 | HTT, D4S111, D4S113, D4S114, D4S115, D4S116
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| Cloning of NotI sites containing sequences (linking clones) from the regions 4pter-4p15.1 and 5p up to 5p15.1 and further characterization of the clones expected to map close to the Huntington's disease locus.
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| Frischauf AM, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 616. 1987
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246 | HD, HTT
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| First-trimester prenatal diagnosis for Huntington's disease with DNA probes.
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| Hayden MR, et al.
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| Lancet I : 1284-1285. 1987
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247 | HD, HTT
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| Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker.
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| Quarrell OWJ, et al.
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| Lancet I : 1281-1283. 1987
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248 | HTT, D4S68, D4S69, D4S70, D4S71, D4S72, D4S73, D4S74, D4S75, D4S76, D4S77, D4S78, D4S79, D4S80
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| A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene.
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| MacDonald ME, et al.
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| Genomics 1 : 29-34. 1987
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249 | D4S62, HD, HTT
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| Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere.
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| Gilliam TC, et al.
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| Cell 50 : 565-571. 1987
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250 | HTT
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| A DNA segment encoding two genes very tightly linked to Huntington's disease.
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| Gilliam TC, Bucan M, MacDonald ME, Zimmer M, Haines JL, Cheng SV, Pohl TM, Meyers RH, Whaley WL, Allitto BA, et al.
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| Science 238(4829):950-2. 1987
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251 | D4S10, HD, HTT
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| Fine mapping of the Huntington disease linked to D4S10 locus by non-radioactive in situ hybridization.
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| Landegent JE, et al.
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| Hum Genet 73 : 354-357. 1986
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252 | HD, HTT
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| Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization.
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| Magenis RE, et al.
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| Am J Hum Genet 39 : 383-391. 1986
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253 | D4S10, HD, HTT
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| Subregional assignment of the linked marker G8 (D4S10) for Huntington disease to chromosome 4p16.1-16.3.
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| Wang HS, Greenberg CR, Hewitt J, Kalousek D, Hayden MR.
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| Am J Hum Genet 39 : 392-396. 1986
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254 | D4S10, HD, HTT
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| Mapping of the DNA locus D4S10 and the linked Huntington's disease gene to 4p16-->p15.
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| Zabel BU, et al.
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| Cytogenet Cell Genet 42 : 187-190. 1986
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255 | D4S10, HD, HTT
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| Studies of a DNA marker (G8) genetically linked to Huntington disease in British families.
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| Youngman S, et al.
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| Hum Genet 73 : 333-339. 1986
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256 | HD, HTT
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| Huntington disease-linked (HD) restriction fragment polymorphismlocalized to band p16 of chromosome 4 by in situ hybridization.
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| Magenis RE, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 685. 1985
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257 | D4S10, HD, HTT
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| Genetic linkage between the G8 locus (D4S10) and Huntington's diseasefamilies in Britain.
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| Youngman S, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 786. 1985
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258 | D4S10, HTT
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| Regional localization of a DNA polymorphism (D4S10) linked toHuntington's disease at 4p16-p15.
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| Zabel BU, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 787. 1985
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259 | HD, HTT
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| Huntington's disease: two families with differing clinical featuresshow linkage to the G8 probe.
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| Folstein SE, et al.
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| Science 229 : 776-779. 1985
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260 | HD, HTT
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| Linkage analysis of Huntington's disease using RFLPs.
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| Gusella JF, et al.
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| (HGM7) Cytogenet Cell Genet 37 : 484-485. 1984
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261 | HD, HTT
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| A polymorphic DNA marker genetically linked to Huntington's disease.
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1983
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