User profiles for Jennifer A. Collins

Jennifer Ann Collins

UBC, BCCA
Verified email at cmmt.ubc.ca
Cited by 5043

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

…, K Roomp, M van Dam, L Yu, C Brewer, JA Collins… - Nature …, 1999 - nature.com
Genes have a major role in the control of high-density lipoprotein (HDL) cholesterol (HDL-C)
levels. Here we have identified two Tangier disease (TD) families, confirmed 9q31 linkage …

Control of gene expression by a natural metabolite-responsive ribozyme

WC Winkler, A Nahvi, A Roth, JA Collins, RR Breaker - Nature, 2004 - nature.com
Most biological catalysts are made of protein; however, eight classes of natural ribozymes
have been discovered that catalyse fundamental biochemical reactions. The central functions …

Mutations in the ABC 1 gene in familial HDL deficiency with defective cholesterol efflux

…, SM Clee, K Roomp, LH Zhang, L Yu, JA Collins… - The Lancet, 1999 - thelancet.com
Background A low concentration of HDL cholesterol is the most common lipoprotein abnormality
in patients with premature atherosclerosis. We have shown that Tangier disease, a rare …

[HTML][HTML] Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes

…, K Roomp, KY Zwarts, JA Collins… - The Journal of …, 2000 - Am Soc Clin Investig
Jennifer A. Collins, 4 … Find articles by Collins, J. in: JCI | PubMed | Google Scholar …

Mechanism of mRNA destabilization by the glmS ribozyme

JA Collins, I Irnov, S Baker… - Genes & development, 2007 - genesdev.cshlp.org
An array of highly structured domains that function as metabolite-responsive genetic
switches has been found to reside within noncoding regions of certain bacterial mRNAs. In …

[HTML][HTML] HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia

SC Warby, H Visscher, JA Collins, CN Doty… - European Journal of …, 2011 - nature.com
Huntington disease (HD) results from CAG expansion in the huntingtin (HTT) gene. Although
HD occurs worldwide, there are large geographic differences in its prevalence. The …

[PDF][PDF] 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… - The American Journal of …, 2019 - cell.com
Huntington disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT) gene.
Although the length of this repeat is inversely correlated with age of onset (AOO), it does …

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

…, JB Carroll, SL Butland, H Visscher, JA Collins… - The American Journal of …, 2009 - cell.com
Huntington disease (HD) is an autosomal-dominant disorder that results from ≥36 CAG
repeats in the HD gene (HTT). Approximately 10% of patients inherit a chromosome that …

[HTML][HTML] Ultrasensitive measurement of huntingtin protein in cerebrospinal fluid demonstrates increase with Huntington disease stage and decrease following brain …

…, NS Caron, EB Villanueva, Y Xie, JA Collins… - Scientific reports, 2015 - nature.com
Quantitation of huntingtin protein in the brain is needed, both as a marker of Huntington disease
(HD) progression and for use in clinical gene silencing trials. Measurement of huntingtin …

[HTML][HTML] 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… - Molecular Therapy, 2015 - cell.com
Huntington disease (HD) is a dominant neurodegenerative disorder caused by a CAG
repeat expansion in the Huntingtin gene (HTT). Heterozygous polymorphisms in cis with the …