The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
A Genome Scan for Modifiers of Age at Onset in Huntington Disease: The HD MAPS Study
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HD onset age is unequivocally related to the size of the expanded CAG repeat, with longer repeats leading to earlier onset.
“While onset age is unequivocally related to the size of the expanded CAG repeat, with longer repeats leading to earlier onset, only 50% to 70% of the variation can be attributed to repeat size [3,4].”
From miR-10b-5p expression in Huntington’s disease brain relates to age of onset and the extent of striatal involvement (2015) · cites this paper as [3]
The remaining variation in HD onset age is highly heritable (h2 = 0.56), suggesting a strong role for genes that modify disease progression.
“The remaining variation is highly heritable (h2 = 0.56), suggesting a strong role for genes that modify disease progression [3].”
From miR-10b-5p expression in Huntington’s disease brain relates to age of onset and the extent of striatal involvement (2015) · cites this paper as [3]
Only 50% to 70% of the variation in HD onset age can be attributed to CAG repeat size.
“only 50% to 70% of the variation can be attributed to repeat size [3,4].”
From miR-10b-5p expression in Huntington’s disease brain relates to age of onset and the extent of striatal involvement (2015) · cites this paper as [3]
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Citations
Cites
MACDONALD, M. (1993) · Cell · doi:10.1016/0092-8674(93)90585-e · Cited by 8,366
Self-citationTrinucleotide repeat length instability and age of onset in Huntington's disease
Duyao, M., Ambrose, C., Myers, R., Novelletto, A., Persichetti, F., Frontali, M., Folstein, S., Ross, C., Franz, M., Abbott, M., et al. (1993) · Nature Genetics · doi:10.1038/ng0893-387 · Cited by 1,089
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Research works printed but not linked: 17
- Andrew, 1993, The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington’s disease, Nat Genet, 4, 398, 10.1038/ng0893-398 · DOI
- Brinkman, 1997, The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size, Am J Hum Genet, 60, 1202
- Djoussé, 2003, Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease, Am J Med Genet, 119A, 279, 10.1002/ajmg.a.20190 · DOI · Paper page
- Farrer, 1993, The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD, Am J Hum Genet, 53, 125
- Huntington, 1872, On chorea, Med Surg Reporter, 26, 317
- Kegel, 2002, Huntingtin is present in the nucleus, interacts with the transcriptional corepressor C-terminal binding protein, and represses transcription, J Biol Chem, 277, 7466, 10.1074/jbc.M103946200 · DOI
- Kruglyak, 1996, Parametric and nonparametric linkage analysis: a unified multipoint approach, Am J Hum Genet, 58, 1347
- Lander, 1995, Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results, Nat Genet, 11, 241, 10.1038/ng1195-241 · DOI
- MacDonald, 1999, Evidence for the GluR6 gene associated with younger onset age of Huntington’s disease, Neurology, 53, 1330, 10.1212/WNL.53.6.1330 · DOI
- Naze, 2002, Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington’s disease, Neurosci Lett, 328, 1, 10.1016/S0304-3940(02)00231-8 · DOI
- Nyholt, 2000, All LODs are not created equal, Am J Hum Genet, 67, 282, 10.1086/303029 · DOI
- Peters, 1999, Nuclear targeting of mutant huntingtin increases toxicity, Mol Cell Neurosci, 14, 121, 10.1006/mcne.1999.0773 · DOI
- Pratt, 2000, Exact multipoint quantitative-trait linkage analysis in pedigrees by variance components, Am J Hum Genet, 66, 1153, 10.1086/302830 · DOI
- Ranen, 1995, Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease, Am J Hum Genet, 57, 593
- Rubinsztein, 1997, Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease, Proc Natl Acad Sci USA, 94, 3872, 10.1073/pnas.94.8.3872 · DOI
- Saudou, 1998, Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions, Cell, 95, 55, 10.1016/S0092-8674(00)81782-1 · DOI
- Snell, 1993, Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington’s disease, Nat Genet, 4, 393, 10.1038/ng0893-393 · DOI
Cited by
Sorted by citations
The genetic epidemiology of neurodegenerative disease
Bertram, L. (2005) · Journal of Clinical Investigation · doi:10.1172/jci24761 · Cited by 680
Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease
Lee, J.-M., Wheeler, V. C., Chao, M. J., Vonsattel, J. P. G., Pinto, R. M., Lucente, D., Abu-Elneel, K., Ramos, E. M., Mysore, J. S., Gillis, T., et al. (2015) · Cell · doi:10.1016/j.cell.2015.07.003 · Cited by 655
“In this report, aided by visionary HD community efforts to collect phenotypes and biosamples from large numbers of subjects with this disorder (Dorsey, 2012; Li et al., 2003; Orth et al., 2010; Paulsen et al., 2008), we apply GWA not to identify risk factors for disease but to discover genome-wide significant quantita…”
Self-citationPinto, R. M., Dragileva, E., Kirby, A., Lloret, A., Lopez, E., St. Claire, J., Panigrahi, G. B., Hou, C., Holloway, K., Gillis, T., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003930 · Cited by 250
“evidence supporting the contribution of genetic factors [3,4].”
BackgroundSelf-citationHoss, A. G., Labadorf, A., Latourelle, J. C., Kartha, V. K., Hadzi, T. C., Gusella, J. F., MacDonald, M. E., Chen, J.-F., Akbarian, S., Weng, Z., et al. (2015) · BMC Medical Genomics · doi:10.1186/s12920-015-0083-3 · Cited by 151
Self-citationCruz, N. M., Yuan, Y., Leehy, B. D., Baid, R., Kompella, U., DeAngelis, M. M., Escher, P., & Haider, N. B. (2014) · PLoS ONE · doi:10.1371/journal.pone.0087942 · Cited by 47
Metadata
- Authors
- Li, J.-L., Hayden, M. R., Almqvist, E. W., Brinkman, R. R., Durr, A., Dodé, C., Morrison, P. J., Suchowersky, O., Ross, C. A., Margolis, R. L., Rosenblatt, A., Gómez-Tortosa, E., Cabrero, D. M., Novelletto, A., Frontali, M., Nance, M., Trent, R. J. A., McCusker, E., Jones, R., Paulsen, J. S., Harrison, M., Zanko, A., Abramson, R. K., Russ, A. L., Knowlton, B., Djoussé, L., Mysore, J. S., Tariot, S., Gusella, M. F., Wheeler, V. C., Atwood, L. D., Cupples, L. A., Saint-Hilaire, M., Cha, J.-H. J., Hersch, S. M., Koroshetz, W. J., Gusella, J. F., MacDonald, M. E., & Myers, R. H.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2003-09
- Volume
- 73
- Issue
- 3
- Pages
- 682-687
- ISSN
- 0002-9297
- Cited by
- 126
- References
- 2
- Language
- en
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