Collins JA - Search Results

1

Huntingtin Haplotypes Provide Prioritized Target Panels for Allele-specific Silencing in Huntington Disease Patients of European Ancestry.

Kay C, Collins JA, Skotte NH, Southwell AL, Warby SC, Caron NS, Doty CN, Nguyen B, Griguoli A, Ross CJ, Squitieri F, Hayden MR. Kay C, et al. Among authors: collins ja. Mol Ther. 2015 Nov;23(11):1759-1771. doi: 10.1038/mt.2015.128. Epub 2015 Jul 23. Mol Ther. 2015. PMID: 26201449 Free PMC article.

2

CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup.

Warby SC, Montpetit A, Hayden AR, Carroll JB, Butland SL, Visscher H, Collins JA, Semaka A, Hudson TJ, Hayden MR. Warby SC, et al. Among authors: collins ja. Am J Hum Genet. 2009 Mar;84(3):351-66. doi: 10.1016/j.ajhg.2009.02.003. Epub 2009 Feb 26. Am J Hum Genet. 2009. PMID: 19249009 Free PMC article.

3

HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia.

Warby SC, Visscher H, Collins JA, Doty CN, Carter C, Butland SL, Hayden AR, Kanazawa I, Ross CJ, Hayden MR. Warby SC, et al. Among authors: collins ja. Eur J Hum Genet. 2011 May;19(5):561-6. doi: 10.1038/ejhg.2010.229. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248742 Free PMC article.

4

A fully humanized transgenic mouse model of Huntington disease.

Southwell AL, Warby SC, Carroll JB, Doty CN, Skotte NH, Zhang W, Villanueva EB, Kovalik V, Xie Y, Pouladi MA, Collins JA, Yang XW, Franciosi S, Hayden MR. Southwell AL, et al. Among authors: collins ja. Hum Mol Genet. 2013 Jan 1;22(1):18-34. doi: 10.1093/hmg/dds397. Epub 2012 Sep 21. Hum Mol Genet. 2013. PMID: 23001568 Free PMC article.

5

Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes.

Baine FK, Kay C, Ketelaar ME, Collins JA, Semaka A, Doty CN, Krause A, Greenberg LJ, Hayden MR. Baine FK, et al. Among authors: collins ja. Eur J Hum Genet. 2013 Oct;21(10):1120-7. doi: 10.1038/ejhg.2013.2. Epub 2013 Mar 6. Eur J Hum Genet. 2013. PMID: 23463025 Free PMC article.

6

CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease.

Semaka A, Kay C, Doty C, Collins JA, Bijlsma EK, Richards F, Goldberg YP, Hayden MR. Semaka A, et al. Among authors: collins ja. J Med Genet. 2013 Oct;50(10):696-703. doi: 10.1136/jmedgenet-2013-101796. Epub 2013 Jul 29. J Med Genet. 2013. PMID: 23896435

7

High frequency of intermediate alleles on Huntington disease-associated haplotypes in British Columbia's general population.

Semaka A, Kay C, Doty CN, Collins JA, Tam N, Hayden MR. Semaka A, et al. Among authors: collins ja. Am J Med Genet B Neuropsychiatr Genet. 2013 Dec;162B(8):864-71. doi: 10.1002/ajmg.b.32193. Epub 2013 Aug 30. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 24038799

8

A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease.

Bečanović K, Nørremølle A, Neal SJ, Kay C, Collins JA, Arenillas D, Lilja T, Gaudenzi G, Manoharan S, Doty CN, Beck J, Lahiri N, Portales-Casamar E, Warby SC, Connolly C, De Souza RA; REGISTRY Investigators of the European Huntington's Disease Network; Tabrizi SJ, Hermanson O, Langbehn DR, Hayden MR, Wasserman WW, Leavitt BR. Bečanović K, et al. Among authors: collins ja. Nat Neurosci. 2015 Jun;18(6):807-16. doi: 10.1038/nn.4014. Epub 2015 May 4. Nat Neurosci. 2015. PMID: 25938884

9

Ultrasensitive measurement of huntingtin protein in cerebrospinal fluid demonstrates increase with Huntington disease stage and decrease following brain huntingtin suppression.

Southwell AL, Smith SE, Davis TR, Caron NS, Villanueva EB, Xie Y, Collins JA, Ye ML, Sturrock A, Leavitt BR, Schrum AG, Hayden MR. Southwell AL, et al. Among authors: collins ja. Sci Rep. 2015 Jul 15;5:12166. doi: 10.1038/srep12166. Sci Rep. 2015. PMID: 26174131 Free PMC article.

10

The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America.

Kay C, Tirado-Hurtado I, Cornejo-Olivas M, Collins JA, Wright G, Inca-Martinez M, Veliz-Otani D, Ketelaar ME, Slama RA, Ross CJ, Mazzetti P, Hayden MR. Kay C, et al. Among authors: collins ja. Eur J Hum Genet. 2017 Feb;25(3):332-340. doi: 10.1038/ejhg.2016.169. Epub 2016 Dec 21. Eur J Hum Genet. 2017. PMID: 28000697 Free PMC article.

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