Genomes and Genes
Affiliation: Robarts Research Institute
- Wang J, Dron J, Ban M, Robinson J, McIntyre A, Alazzam M, et al. Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically. Arterioscler Thromb Vasc Biol. 2016;36:2439-2445 pubmed....
- Brahm A, Wang G, Wang J, McIntyre A, Cao H, Ban M, et al. Genetic Confirmation Rate in Clinically Suspected Maturity-Onset Diabetes of the Young. Can J Diabetes. 2016;40:555-560 pubmed publisher..Confirmatory genetic testing in patients suspected to have MODY allows for definitive diagnoses which, in turn, may guide management and provide rationales for screening other family members presymptomatically. ..
- Kolovic M, Robinson J, Hegele R. Proprietary Considerations in the Use of Cardiovascular Genetic Data. Can J Cardiol. 2016;32:1297-1299 pubmed publisher..Investigators or clinicians who require additional data that is not within the revised tables can still access the data through academic institutions that hold subscriptions to proprietary human mutation databases. ..
- Wang L, Hegele R. Genetics for the Identification of Lipid Targets Beyond PCSK9. Can J Cardiol. 2017;33:334-342 pubmed publisher..Several of these new agents have attained or are closing in on "prime-time readiness" for clinical use in specific situations. ..
- Hegele R, Ginsberg H, Chapman M, Nordestgaard B, Kuivenhoven J, Averna M, et al. The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management. Lancet Diabetes Endocrinol. 2014;2:655-66 pubmed publisher....
- Cao H, Hegele R. DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency. J Hum Genet. 2003;48:20-2 pubmed..The frequency of the IVS1 +6C>T polymorphism was 0.051. The reagents described here provide tools for further study of association with clinical and biochemical phenotypes related to allergy and immunity. ..
- Dron J, Wang J, Low Kam C, Khetarpal S, Robinson J, McIntyre A, et al. Polygenic determinants in extremes of high-density lipoprotein cholesterol. J Lipid Res. 2017;58:2162-2170 pubmed publisher..Multiple types of genetic variants should be considered as contributing factors in patients with extreme dyslipidemia. ..
- Dron J, Hegele R. Genetics of Triglycerides and the Risk of Atherosclerosis. Curr Atheroscler Rep. 2017;19:31 pubmed publisher....
- Lahiry P, Racacho L, Wang J, Robinson J, Gloor G, Rupar C, et al. A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder. Orphanet J Rare Dis. 2013;8:126 pubmed publisher..This study demonstrates a proof-of-concept whereby combining exome sequencing with homozygosity mapping can find the genetic cause of a rare disease and acquire better understanding of a poorly described protein in human development. ..
- Hegele R, Ban M, Hsueh N, Kennedy B, Cao H, Zou G, et al. A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia. Hum Mol Genet. 2009;18:4189-94 pubmed publisher....
- Hegele R, Cao H, Liu D, Costain G, Charlton Menys V, Rodger N, et al. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. Am J Hum Genet. 2006;79:383-9 pubmed..2 x 10-5). These novel heterozygous mutations are the first reported for LMNB2, are the first reported among patients with APL, and indicate how sequencing of a reannotated candidate gene can reveal new disease-associated mutations. ..
- Hegele R, Al Shali K, House A, Hanley A, Harris S, Mamakeesick M, et al. Disparate associations of a functional promoter polymorphism in PCK1 with carotid wall ultrasound traits. Stroke. 2005;36:2566-70 pubmed..The meaning of the opposing associations of PCK1 genotype with IMT and TPV is unclear; more work is required to confirm whether these might be distinct quantitative traits with different biological determinants. ..
- Hegele R, Guy J, Ban M, Wang J. NPC1L1 haplotype is associated with inter-individual variation in plasma low-density lipoprotein response to ezetimibe. Lipids Health Dis. 2005;4:16 pubmed..These preliminary pharmacogenetic results suggest that NPC1L1 variation is associated with inter-individual variation in response to ezetimibe treatment. ..
- Hegele R, Zinman B, Hanley A, Harris S, Barrett P, Cao H. Genes, environment and Oji-Cree type 2 diabetes. Clin Biochem. 2003;36:163-70 pubmed..There is also evidence for genetic determination of related metabolic traits in the Oji-Cree. ..
- Hegele R, Cao H, Frankowski C, Mathews S, Leff T. PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. Diabetes. 2002;51:3586-90 pubmed..Our findings are consistent with the idea that mutant PPARG can underlie the partial lipodystrophy phenotype. ..
- Hegele R, Robinson J. ABC transporters and sterol absorption. Curr Drug Targets Cardiovasc Haematol Disord. 2005;5:31-7 pubmed....
- Iacocca M, Wang J, Dron J, Robinson J, McIntyre A, Cao H, et al. Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia. J Lipid Res. 2017;58:2202-2209 pubmed publisher....