Jennifer Ann Collins
Jennifer Ann Collins
UBC, BCCA
Geverifieerd e-mailadres voor cmmt.ubc.ca
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Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
A Brooks-Wilson, M Marcil, SM Clee, LH Zhang, K Roomp, M van Dam, ...
Nature genetics 22 (4), 336-345, 1999
19501999
Mutations in the ABC 1 gene in familial HDL deficiency with defective cholesterol efflux
M Marcil, A Brooks-Wilson, SM Clee, K Roomp, LH Zhang, L Yu, ...
The Lancet 354 (9187), 1341-1346, 1999
3771999
Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes
SM Clee, JJP Kastelein, M van Dam, M Marcil, K Roomp, KY Zwarts, ...
The Journal of clinical investigation 106 (10), 1263-1270, 2000
3462000
CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup
SC Warby, A Montpetit, AR Hayden, JB Carroll, SL Butland, H Visscher, ...
The American Journal of Human Genetics 84 (3), 351-366, 2009
2162009
HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia
SC Warby, H Visscher, JA Collins, CN Doty, C Carter, SL Butland, ...
European Journal of Human Genetics 19 (5), 561-566, 2011
1492011
Huntingtin haplotypes provide prioritized target panels for allele-specific silencing in Huntington disease patients of European ancestry
C Kay, JA Collins, NH Skotte, AL Southwell, SC Warby, NS Caron, ...
Molecular Therapy 23 (11), 1759-1771, 2015
832015
The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease
SM Clee, O Loubser, J Collins, JJP Kastelein, MR Hayden
Clinical genetics 60 (4), 293-300, 2001
802001
A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease
K Bečanović, A Nørremølle, SJ Neal, C Kay, JA Collins, D Arenillas, T Lilja, ...
Nature neuroscience 18 (6), 807-816, 2015
792015
A fully humanized transgenic mouse model of Huntington disease
AL Southwell, SC Warby, JB Carroll, CN Doty, NH Skotte, W Zhang, ...
Human molecular genetics 22 (1), 18-34, 2013
732013
Reduced telomere length variation in healthy oldest old
J Halaschek-Wiener, I Vulto, D Fornika, J Collins, JM Connors, ND Le, ...
Mechanisms of ageing and development 129 (11), 638-641, 2008
632008
Unstable familial transmissions of Huntington disease alleles with 27–35 CAG repeats (intermediate alleles)
A Semaka, JA Collins, MR Hayden
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153 …, 2010
622010
Ultrasensitive measurement of huntingtin protein in cerebrospinal fluid demonstrates increase with Huntington disease stage and decrease following brain huntingtin suppression
AL Southwell, SEP Smith, TR Davis, NS Caron, EB Villanueva, Y Xie, ...
Scientific reports 5 (1), 1-11, 2015
552015
CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease
A Semaka, C Kay, C Doty, JA Collins, EK Bijlsma, F Richards, ...
Journal of medical genetics 50 (10), 696-703, 2013
552013
Huntington disease reduced penetrance alleles occur at high frequency in the general population
C Kay, JA Collins, Z Miedzybrodzka, SJ Madore, ES Gordon, N Gerry, ...
Neurology 87 (3), 282-288, 2016
492016
Genetic variation in healthy oldest-old
J Halaschek-Wiener, M Amirabbasi-Beik, N Monfared, M Pieczyk, C Sailer, ...
PLoS One 4 (8), e6641, 2009
472009
Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes
FK Baine, C Kay, ME Ketelaar, JA Collins, A Semaka, CN Doty, A Krause, ...
European Journal of Human Genetics 21 (10), 1120-1127, 2013
452013
High frequency of intermediate alleles on huntington disease‐associated haplotypes in British Columbia's general population
A Semaka, C Kay, CN Doty, JA Collins, N Tam, MR Hayden
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 162 …, 2013
402013
The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population
C Kay, JA Collins, GEB Wright, F Baine, Z Miedzybrodzka, F Aminkeng, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177 …, 2018
302018
Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol
CL Wellington, YZ Yang, S Zhou, SM Clee, B Tan, K Hirano, K Zwarts, ...
Journal of lipid research 43 (11), 1939-1949, 2002
262002
Length of uninterrupted CAG, independent of polyglutamine size, results in increased somatic instability, hastening onset of Huntington disease
GEB Wright, JA Collins, C Kay, C McDonald, E Dolzhenko, Q Xia, ...
The American Journal of Human Genetics 104 (6), 1116-1126, 2019
242019
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Artikelen 1–20