Justin Guy

Summary

Affiliation: Robarts Research Institute
Country: Canada

Publications

  1. pmc Transcriptional profiling of endocrine cerebro-osteodysplasia using microarray and next-generation sequencing
    Piya Lahiry
    Robarts Research Institute, London, Ontario, Canada
    PLoS ONE 6:e25400. 2011
  2. pmc Cholesteryl ester transfer protein inhibitors for dyslipidemia: focus on dalcetrapib
    Alyse S Goldberg
    Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
    Drug Des Devel Ther 6:251-9. 2012
  3. pmc LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias
    Christopher T Johansen
    Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada N6A 5B7
    J Lipid Res 55:765-72. 2014
  4. pmc A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder
    Piya Lahiry
    Robarts Research Institute, London, ON, Canada
    Orphanet J Rare Dis 8:126. 2013
  5. pmc Omega-3 fatty acids, polymorphisms and lipid related cardiovascular disease risk factors in the Inuit population
    Iwona Rudkowska
    Institute of Nutrition and Functional Foods INAF, Laval University, 2440, Boulevard Hochelaga, Quebec, QC, Canada
    Nutr Metab (Lond) 10:26. 2013
  6. pmc BRCA2 variants and cardiovascular disease in a multi-ethnic study
    Kevin Zbuk
    Population Health Research Institute, Hamilton Health Sciences, Hamilton, ON, Canada
    BMC Med Genet 13:56. 2012
  7. pmc Hypertriglyceridemia
    Amanda Brahm
    Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada
    Nutrients 5:981-1001. 2013
  8. doi request reprint Genetic risk factors for stroke in the genome-wide association era
    Neeraj Patel
    University of Western Ontario, Robarts Research Institute, Schulich School of Medicine and Dentistry, Blackburn Cardiovascular Genetics Laboratory, London, Ontario, Canada N6A 5K8 519 931 5271 519 931 5218
    Expert Opin Med Diagn 5:75-84. 2011
  9. doi request reprint Severe hypertriglyceridemia in pregnancy
    Alyse S Goldberg
    Department of Medicine, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada N6A 5K8
    J Clin Endocrinol Metab 97:2589-96. 2012
  10. pmc Abetalipoproteinemia: two case reports and literature review
    Rola Zamel
    Department of Medicine and Biochemistry, University of Western Ontario, London, Ontario, Canada
    Orphanet J Rare Dis 3:19. 2008

Detail Information

Publications98

  1. pmc Transcriptional profiling of endocrine cerebro-osteodysplasia using microarray and next-generation sequencing
    Piya Lahiry
    Robarts Research Institute, London, Ontario, Canada
    PLoS ONE 6:e25400. 2011
    ..To date, most mRNA profiling of tissues has been accomplished using microarrays, but next-generation sequencing can offer a richer and more comprehensive picture...
  2. pmc Cholesteryl ester transfer protein inhibitors for dyslipidemia: focus on dalcetrapib
    Alyse S Goldberg
    Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
    Drug Des Devel Ther 6:251-9. 2012
    ....
  3. pmc LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias
    Christopher T Johansen
    Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada N6A 5B7
    J Lipid Res 55:765-72. 2014
    ....
  4. pmc A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder
    Piya Lahiry
    Robarts Research Institute, London, ON, Canada
    Orphanet J Rare Dis 8:126. 2013
    ..To elucidate the genetic basis of a novel neurodegenerative disorder in an Old Order Amish pedigree by combining homozygosity mapping with exome sequencing...
  5. pmc Omega-3 fatty acids, polymorphisms and lipid related cardiovascular disease risk factors in the Inuit population
    Iwona Rudkowska
    Institute of Nutrition and Functional Foods INAF, Laval University, 2440, Boulevard Hochelaga, Quebec, QC, Canada
    Nutr Metab (Lond) 10:26. 2013
    ....
  6. pmc BRCA2 variants and cardiovascular disease in a multi-ethnic study
    Kevin Zbuk
    Population Health Research Institute, Hamilton Health Sciences, Hamilton, ON, Canada
    BMC Med Genet 13:56. 2012
    ..We therefore tested the association of BRCA2 variants with clinical cardiovascular disease (CVD)...
  7. pmc Hypertriglyceridemia
    Amanda Brahm
    Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada
    Nutrients 5:981-1001. 2013
    ..Therapeutic strategies include dietary counselling, lifestyle management, control of secondary factors, use of omega-3 preparations and selective use of pharmaceutical agents...
  8. doi request reprint Genetic risk factors for stroke in the genome-wide association era
    Neeraj Patel
    University of Western Ontario, Robarts Research Institute, Schulich School of Medicine and Dentistry, Blackburn Cardiovascular Genetics Laboratory, London, Ontario, Canada N6A 5K8 519 931 5271 519 931 5218
    Expert Opin Med Diagn 5:75-84. 2011
    ....
  9. doi request reprint Severe hypertriglyceridemia in pregnancy
    Alyse S Goldberg
    Department of Medicine, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada N6A 5K8
    J Clin Endocrinol Metab 97:2589-96. 2012
    ..Complications can include acute pancreatitis, hyperviscosity syndrome, and possibly preeclampsia. We present a case of successful management of recurrent gestational chylomicronemia due to compound heterozygous mutations in the LPL gene...
  10. pmc Abetalipoproteinemia: two case reports and literature review
    Rola Zamel
    Department of Medicine and Biochemistry, University of Western Ontario, London, Ontario, Canada
    Orphanet J Rare Dis 3:19. 2008
    ..We review the range of clinical, biochemical and molecular perturbations in ABL...
  11. pmc Alstrom syndrome (OMIM 203800): a case report and literature review
    Tisha Joy
    Department of Vascular Biology and Medicine, Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada
    Orphanet J Rare Dis 2:49. 2007
    ..Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described...
  12. pmc Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650)
    Jian Wang
    Schulich School of Medicine and Dentistry, University of Western Ontario and Vascular Biology Research Group, Robarts Research Institute, London, Ontario, N6A 5K8, Canada
    Lipids Health Dis 6:23. 2007
    ....
  13. pmc Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease
    Venu T Tadiboyina
    Department of Medicine, Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, N6A 5C1, Canada
    Lipids Health Dis 4:26. 2005
    ..Usual treatment includes a low fat diet and a statin drug...
  14. pmc Genetic determinants of statin intolerance
    Jisun Oh
    Schulich School of Medicine and Dentistry, University of Western Ontario and Vascular Biology Research Group, Robarts Research Institute, London, Ontario, Canada
    Lipids Health Dis 6:7. 2007
    ..We studied 133 subjects who developed myopathy on statin monotherapy and 158 matched controls who tolerated statins without incident or complaint...
  15. pmc Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia
    Henian Cao
    Vascular Biology Group, Robarts Research Institute, London, Ontario, Canada
    Lipids Health Dis 7:3. 2008
    ..From genomic DNA of patients with atypical lipodystrophy and hypertriglyceridemia who had no mutations in any known lipodystrophy gene, we used DNA sequence analysis to screen the coding regions of human CAV1 (MIM 601047)...
  16. pmc Gene-gene and gene-environment interactions: new insights into the prevention, detection and management of coronary artery disease
    Matthew B Lanktree
    Departments of Medicine and Biochemistry, Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, University of Western Ontario, London, Ontario N6A 5K8, Canada
    Genome Med 1:28. 2009
    ..Here we discuss these issues, particularly in relation to the investigation and potential clinical utility of gene-gene and gene-environment interactions in CAD...
  17. pmc Relationship of the metabolic syndrome to carotid ultrasound traits
    Rebecca L Pollex
    Robarts Research Institute, London, Ontario, Canada
    Cardiovasc Ultrasound 4:28. 2006
    ..We evaluated two carotid ultrasound measurements, namely intima media thickness and total plaque volume, in a Canadian Oji-Cree population with a high metabolic syndrome prevalence rate...
  18. pmc A comparison of ultrasound measurements to assess carotid atherosclerosis development in subjects with and without type 2 diabetes
    Rebecca L Pollex
    Robarts Research Institute, London, Ontario, Canada
    Cardiovasc Ultrasound 3:15. 2005
    ..Thus, the objective of this study was to compare the traditional intima-media thickness measurement against the novel total plaque volume measurement in analyzing carotid atherosclerosis development in individuals with type 2 diabetes...
  19. pmc Association between the FTO rs9939609 polymorphism and the metabolic syndrome in a non-Caucasian multi-ethnic sample
    Salam A Al-Attar
    Vascular Biology Research Group, Robarts Research Institute, London, Ontario, Canada
    Cardiovasc Diabetol 7:5. 2008
    ..The objective of this study is to examine whether this association extends to metabolic syndrome (MetS) and applies in non-Caucasian samples...
  20. pmc Assessing the association of the HNF1A G319S variant with C-reactive protein in Aboriginal Canadians: a population-based epidemiological study
    Sylvia H Ley
    Department of Nutritional Sciences, University of Toronto, Toronto, Canada
    Cardiovasc Diabetol 9:39. 2010
    ..We aimed to investigate whether CRP was mediating the association between HNF1A G319S and type 2 diabetes in an Aboriginal Canadian population with a high prevalence of diabetes...
  21. pmc Methylenetetrahydrofolate reductase polymorphism 677C>T is associated with peripheral arterial disease in type 2 diabetes
    Rebecca L Pollex
    Robarts Research Institute, London, Ontario, Canada
    Cardiovasc Diabetol 4:17. 2005
    ..The objective of this study was to investigate a possible role for the MTHFR 677C>T gene polymorphism with PAD in subjects with type 2 diabetes from an isolated aboriginal Canadian population...
  22. pmc Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging
    Salam A Al-Attar
    Vascular Biology Research Group, Robarts Research Institute, London, Ontario, N6A 5K8, Canada
    BMC Med Imaging 7:3. 2007
    ..We now extend the MRI analysis across the whole body of patients with different forms of lipodystrophy...
  23. pmc Association between the -455T>C promoter polymorphism of the APOC3 gene and the metabolic syndrome in a multi-ethnic sample
    Rebecca L Pollex
    Vascular Biology Research Group, Robarts Research Institute, London, Ontario, Canada
    BMC Med Genet 8:80. 2007
    ..The objective of this study is to examine the APOC3 -455T>C and the INSIG2 rs7566605 polymorphisms as potential genetic determinants for MetS in a multi-ethnic sample...
  24. pmc Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)
    Gordon A Francis
    Department of Medicine and Biochemistry, University of Alberta, Edmonton, Alberta, T6G 2S2, Canada
    BMC Med Genet 7:3. 2006
    ..Both dominant-negative and haploinsufficiency mechanisms have been suggested for this condition...
  25. pmc HNF1A G319S variant, active cigarette smoking and incident type 2 diabetes in Aboriginal Canadians: a population-based epidemiological study
    Sylvia H Ley
    Department of Nutritional Sciences, University of Toronto, Toronto, ON, Canada
    BMC Med Genet 12:1. 2011
    ..We aimed to investigate the association of the HNF1A G319S polymorphism with incident type 2 diabetes and to assess whether clinical risk variables for type 2 diabetes influence the association in an Aboriginal population...
  26. doi request reprint Plasma lipoproteins: genetic influences and clinical implications
    Robert A Hegele
    Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, 406 100 Perth Drive, London, Ontario, Canada N6A 5K8
    Nat Rev Genet 10:109-21. 2009
    ..In addition to filling gaps in our understanding of plasma lipoprotein metabolism, the recent genetic advances will improve our ability to classify, diagnose and treat dyslipidaemias...
  27. ncbi request reprint Disparate associations of a functional promoter polymorphism in PCK1 with carotid wall ultrasound traits
    Robert A Hegele
    Robarts Research Institute, London, Ontario, Canada
    Stroke 36:2566-70. 2005
    ..We hypothesized that this polymorphism would be associated with carotid atherosclerosis in a sample of 150 aboriginal Canadians...
  28. ncbi request reprint Phenomics and lamins: from disease to therapy
    Robert A Hegele
    Schulich School of Medicine and Dentistry, University of Western Ontario and Vascular Biology Research Group, Robarts Research Institute, London, Ontario, Canada N6A 5K8
    Exp Cell Res 313:2134-43. 2007
    ....
  29. pmc A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia
    Robert A Hegele
    Vascular Biology Research Group, Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, Canada
    Hum Mol Genet 18:4189-94. 2009
    ....
  30. pmc Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy
    Robert A Hegele
    Robarts Research Institute, 406 100 Perth Drive, London, Ontario, Canada N6A 5K8
    Am J Hum Genet 79:383-9. 2006
    ..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...
  31. ncbi request reprint Lipid modification in the elderly using the combination of a statin and a cholesterol absorption inhibitor
    Amelia Yip
    University of Western Ontario, Robarts Research Institute, Schulich School of Medicine and Dentistry, Blackburn Cardiovascular Genetics Laboratory, London, Ontario, Canada
    Expert Opin Pharmacother 12:675-8. 2011
    ..Despite these promising short-term results, the longer-term safety and efficacy of combination treatment across diverse populations requires further evaluation...
  32. ncbi request reprint DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency
    Henian Cao
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406 100 Perth Drive, London, ON N6A 5K8, Canada
    J Hum Genet 48:20-2. 2003
    ..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...
  33. ncbi request reprint Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome
    Robert A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406 100 Perth Drive, London, Ontario, N6A5K8, Canada
    Trends Endocrinol Metab 14:371-7. 2003
    ....
  34. doi request reprint Update on the genetics of stroke and cerebrovascular disease 2007
    Robert A Hegele
    Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, Canada
    Stroke 39:252-4. 2008
  35. ncbi request reprint Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism
    Robert A Hegele
    Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada
    J Lipid Res 48:1433-44. 2007
    ....
  36. ncbi request reprint Phenomics, lipodystrophy, and the metabolic syndrome
    Robert A Hegele
    Robarts Research Institute, 406 100 Perth Drive, London, Ontario N6A 5K8, Canada
    Trends Cardiovasc Med 14:133-7. 2004
    ....
  37. ncbi request reprint PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy
    Robert A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406 100 Perth Drive, London, Ontario, Canada N6A 5K8
    Diabetes 51:3586-90. 2002
    ..Our findings are consistent with the idea that mutant PPARG can underlie the partial lipodystrophy phenotype...
  38. pmc Unbuckling lipodystrophy from insulin resistance and hypertension
    Robert A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406 100 Perth Drive, London, Ontario N6A 5K8, Canada
    J Clin Invest 114:163-5. 2004
    ..Furthermore, the mutant protein appears to directly modulate the renin-angiotensin system in adipose tissue, providing evidence of the pleiotropic effects of PPARgamma...
  39. doi request reprint Hypertriglyceridemia: phenomics and genomics
    Robert A Hegele
    Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, N6A 5K8, Canada
    Mol Cell Biochem 326:35-43. 2009
    ..Phenomic evaluation of patients with hypertriglyceridemia might help to clarify genotype-phenotype correlations and responses to interventions...
  40. ncbi request reprint Lessons from human mutations in PPARgamma
    R A Hegele
    Robarts Research Institute, London, Ontario, Canada
    Int J Obes (Lond) 29:S31-5. 2005
    ..Thus, rare natural mutations affecting PPARgamma ligand binding and/or transactivation functions cause partial lipodystrophy, with associated components that resemble the metabolic syndrome...
  41. ncbi request reprint ABC transporters and sterol absorption
    Robert A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406 100 Perth Drive, London, Ontario, Canada N6A 5K8
    Curr Drug Targets Cardiovasc Haematol Disord 5:31-7. 2005
    ....
  42. ncbi request reprint Drawing the line in progeria syndromes
    Robert A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, Ontario, N6A 5K8, London, Canada
    Lancet 362:416-7. 2003
  43. ncbi request reprint Genetic and physiological insights into the metabolic syndrome
    Robert A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research, 406 100 Perth Drive, London, Ontario, Canada N6A 5K8
    Am J Physiol Regul Integr Comp Physiol 289:R663-9. 2005
    ....
  44. ncbi request reprint LMNA mutation position predicts organ system involvement in laminopathies
    Ra Hegele
    Robarts Research Institute and University of Western Ontario, London, Ontario, Canada
    Clin Genet 68:31-4. 2005
    ..Furthermore, HCA may be a tool to help with the study of phenotype - genotype associations, or 'phenomics'...
  45. ncbi request reprint Genes, environment and Oji-Cree type 2 diabetes
    Robert A Hegele
    Robarts Research Institute RAH, HC, London, ON, Canada
    Clin Biochem 36:163-70. 2003
    ..There is also evidence for genetic determination of related metabolic traits in the Oji-Cree...
  46. pmc Hoofbeats, zebras, and insights into insulin resistance
    Robert A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, University of Western Ontario, London, Ontario, Canada
    J Clin Invest 119:249-51. 2009
    ....
  47. pmc NPC1L1 haplotype is associated with inter-individual variation in plasma low-density lipoprotein response to ezetimibe
    Robert A Hegele
    Vascular Biology Group, Robarts Research Institute, London, Ontario, Canada
    Lipids Health Dis 4:16. 2005
    ..We next hypothesized that common variants in NPC1L1 would underlie less extreme inter-individual variations in the plasma LDL cholesterol response to ezetimibe...
  48. ncbi request reprint Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia
    Robert A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, Schulich School of Medicine and Dentistry, University of Western Ontario, 406 100 Perth Drive, London, ON N6A 5K8, Canada
    Genome 49:1343-50. 2006
    ....
  49. ncbi request reprint Polygenic determinants of severe hypertriglyceridemia
    Jian Wang
    Vascular Biology Research Group 2 Clinical Trials Group, Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada
    Hum Mol Genet 17:2894-9. 2008
    ..At the extremes of a quantitative trait, such as severe HTG, are found the cumulative contributions of both multiple rare alleles with large genetic effects and common alleles with small effects...
  50. ncbi request reprint Genetic variation in PPARG encoding peroxisome proliferator-activated receptor gamma associated with carotid atherosclerosis
    Khalid Z Al-Shali
    Robarts Research Institute, London, Ontario, Canada
    Stroke 35:2036-40. 2004
    ..Genetic variation in PPARG has been associated with metabolic and cardiovascular end points...
  51. ncbi request reprint A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2
    Chantal F Morel
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, London, Ontario, Canada
    J Clin Endocrinol Metab 91:2689-95. 2006
    ..To date, all cases of familial partial lipodystrophy type 2 (FPLD2; Mendelian Inheritance in Man 151660) result from missense mutations in LMNA, which encodes nuclear lamin A/C (Mendelian Inheritance in Man 150330)...
  52. ncbi request reprint Laminopathies and atherosclerosis
    Khalid Z Al-Shali
    Robarts Research Institute and University of Western Ontario, London, Canada
    Arterioscler Thromb Vasc Biol 24:1591-5. 2004
    ..These monogenic diseases may provide clues about new pathways for atherogenesis...
  53. doi request reprint APOA5 genetic variants are markers for classic hyperlipoproteinemia phenotypes and hypertriglyceridemia
    Jian Wang
    Vascular Biology Research Group, Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON N6A 5K8, Canada
    Nat Clin Pract Cardiovasc Med 5:730-7. 2008
    ..In an attempt to identify other useful variants, we evaluated the association of two common APOA5 single-nucleotide polymorphisms across the range of classic hyperlipoproteinemia phenotypes...
  54. ncbi request reprint Common variants APOC3, APOA5, APOE and PON1 are associated with variation in plasma lipoprotein traits in Greenlanders
    Piya Lahiry
    Vascular Biology Research Group, Robarts Research Institute, London, Ontario, Canada
    Int J Circumpolar Health 66:390-400. 2007
    ..We undertook studies of the association between common genomic variations in APOC3, APOA5, APOE and PON1 genes and variation in biochemical phenotypes in a sample of Greenlanders...
  55. ncbi request reprint Genetics of metabolic syndrome: is there a role for phenomics?
    Tisha Joy
    Robarts Research Institute, 406 100 Perth Drive, London, Ontario, N6A 5K8, Canada
    Curr Atheroscler Rep 10:201-8. 2008
    ....
  56. pmc Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample
    Matthew B Lanktree
    Robarts Research Institute, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada
    J Lipid Res 50:1487-96. 2009
    ..The findings indicate the potential utility of the Illumina CVD beadchip, but they underscore the need to consider meta-analysis of results from commonly studied clinical or epidemiological samples...
  57. ncbi request reprint Peroxisome proliferator-activated receptor gamma polymorphism Pro12Ala is associated with nephropathy in type 2 diabetes
    Rebecca L Pollex
    Robarts Research Institute, London, Ontario, Canada N6A 5K8
    J Diabetes Complications 21:166-71. 2007
    ..The objective of this study was to investigate a possible role for the P12A PPARgamma gene polymorphism with diabetic nephropathy in an isolated aboriginal Canadian population at high risk for renal disease...
  58. ncbi request reprint Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY)
    James L McKinney
    Robarts Research Institute, London, Ont
    Clin Invest Med 27:135-41. 2004
    ..We studied Canadian probands to determine if they had mutations in MODY2 or MODY3 genes...
  59. pmc Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia
    Christopher T Johansen
    Department of Biochemistry, University of Western Ontario, London, Ontario, Canada
    Nat Genet 42:684-7. 2010
    ..1% of affected individuals and 15.3% of controls (P = 2.6 x 10(-5)). Considering rare variants in these genes incrementally increased the proportion of genetic variation contributing to HTG...
  60. ncbi request reprint Environmental modulation of atherosclerosis end points in familial hypercholesterolemia
    Robert A Hegele
    Blackburn Cardiovascular Genetics Laboratory, John P Robarts Research Institute, University of Western Ontario, 406 100 Perth Drive, London, ON, Canada N6A 5K8
    Atheroscler Suppl 2:5-7. 2002
    ..In some cases, the environment, including lifestyle factors, appears to play a key role in modulating the disease severity. This complexity could have implications for diagnosis and treatment...
  61. ncbi request reprint Differences between carotid wall morphological phenotypes measured by ultrasound in one, two and three dimensions
    Khalid Al-Shali
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406 100 Perth Drive, London, Ont, Canada N6A 5K8
    Atherosclerosis 178:319-25. 2005
    ..Because the measurements have different implications and determinants, investigators might need to be selective about the particular measurements they choose for specific applications...
  62. pmc A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems
    Piya Lahiry
    Robarts Research Institute, London, Ontario N6A 5K8, Canada
    Am J Hum Genet 84:134-47. 2009
    ..We also demonstrate that the R272Q mutant fails to localize at the nucleus and has diminished kinase activity. These findings suggest that ICK plays a key role in the development of multiple organ systems...
  63. doi request reprint Multi-ethnic genetic association study of carotid intima-media thickness using a targeted cardiovascular SNP microarray
    Matthew B Lanktree
    Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada
    Stroke 40:3173-9. 2009
    ....
  64. ncbi request reprint GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY)
    Henian Cao
    Robarts Research Institute, London, Ontario, Canada
    Hum Mutat 20:478-9. 2002
    ..The novel mutations expand the spectrum of MODY mutations. In addition, knowledge of the specific defect can be used to pre-symptomatically identify family members at risk for developing MODY...
  65. pmc Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I
    Chandheeb Rajakumar
    Vascular Biology Research Group, Robarts Research Institute, University of Western Ontario, London, Ontario, Canada
    J Lipid Res 50:1223-8. 2009
    ..However, CPT1A p.P479L was associated with elevated plasma HDL and apoA-I levels. The association with increased levels of HDL and apoA-I suggest that the polymorphism might protect against atherosclerosis...
  66. ncbi request reprint Complications of Type 2 Diabetes Among Aboriginal Canadians: prevalence and associated risk factors
    Anthony J G Hanley
    Leadership Sinai Centre for Diabetes, Lebovic Building, Room 5 210, Mt Sinai Hospital, 600 University Ave, Toronto, Ontario, M5G 1X5, Canada
    Diabetes Care 28:2054-7. 2005
  67. ncbi request reprint Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650)
    Jian Wang
    Vascular Biology Research Group, Robarts Research Institute and Schulich School of Medicine and Dentistry, London, Ontario, Canada
    Arterioscler Thromb Vasc Biol 27:2450-5. 2007
    ..We therefore resequenced 3 candidate genes, namely LPL, APOC2, and APOA5, to search for accumulation of missense mutations in patients with severe HTG compared with normolipidemic subjects...
  68. ncbi request reprint Promoter polymorphism in PCK1 (phosphoenolpyruvate carboxykinase gene) associated with type 2 diabetes mellitus
    Henian Cao
    Vascular Biology Research Group, Robarts Research Institute, and Department of Medicine, University of Western Ontario, London, Ontario, Canada N6A 5K8
    J Clin Endocrinol Metab 89:898-903. 2004
    ..8 (95% confidence interval, 1.7-4.7) in a Caucasian sample. Thus, we report a promoter SNP in PCK1 that was resistant to down-regulation by insulin in vitro and was associated with type 2 DM in two independent study samples...
  69. ncbi request reprint Elevated serum C-reactive protein and free fatty acids among nondiabetic carriers of missense mutations in the gene encoding lamin A/C (LMNA) with partial lipodystrophy
    Robert A Hegele
    Blackburn Cardiovascular Genetics Laboratory and Vascular Biology Research Group, Robarts Research Institute, London, Ontario, Canada
    Arterioscler Thromb Vasc Biol 23:111-6. 2003
    ..Although common insulin resistance is associated with several biochemical perturbations, including elevated C-reactive protein (CRP), the biochemical profile in subjects with mutant LMNA is incompletely defined...
  70. ncbi request reprint Metabolic syndrome in aboriginal Canadians: prevalence and genetic associations
    Rebecca L Pollex
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, University of Western Ontario, London, Ont, Canada
    Atherosclerosis 184:121-9. 2006
    ..Since metabolic syndrome (MetS) increases risk of T2DM and CHD, we characterized prevalence and putative genetic determinants of MetS in Oji-Cree...
  71. ncbi request reprint Functional promoter polymorphism in SREBP cleavage-activating protein (SCAP)
    Henian Cao
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute 406 100 Perth Drive, London, ON, N6A 5K8, Canada
    J Hum Genet 47:492-6. 2002
    ..These markers might be useful for studies of association with metabolic phenotypes...
  72. ncbi request reprint A single nucleotide polymorphism in protein tyrosine phosphatase PTP-1B is associated with protection from diabetes or impaired glucose tolerance in Oji-Cree
    Andrea Mok
    John P Robarts Research Institute, London, Ontario, Canada N6A 5K8
    J Clin Endocrinol Metab 87:724-7. 2002
    ..These very preliminary findings suggest that genomic variation in PTP-1B is associated with a reduced risk of diabetes and are consistent with the idea that this protein is important in metabolism...
  73. ncbi request reprint Successful pregnancy outcome in a patient with severe chylomicronemia due to compound heterozygosity for mutant lipoprotein lipase
    Khalid Al-Shali
    The John P Robarts Research Institute, London, Ontario, Canada
    Clin Biochem 35:125-30. 2002
    ..We report the course and treatment of an 18 yr-old primigravida who had LPL deficiency and hypertriglyceridemia since birth. We also analyzed the molecular basis of her LPL deficiency...
  74. ncbi request reprint NPC1L1: evolution from pharmacological target to physiological sterol transporter
    Murray W Huff
    Vascular Biology Group, Robarts Research Institute, London, Ontario, Canada
    Arterioscler Thromb Vasc Biol 26:2433-8. 2006
    ..The example of NPC1L1 shows how the elucidation of a pharmacological target can serve as a means to gain understanding of a key physiological pathway...
  75. ncbi request reprint Selective up-regulation of LXR-regulated genes ABCA1, ABCG1, and APOE in macrophages through increased endogenous synthesis of 24(S),25-epoxycholesterol
    Michael M Beyea
    Robarts Research Institute Vascular Biology Group, Department of Biochemistry, University of Western, London, Ontario, Canada
    J Biol Chem 282:5207-16. 2007
    ..In summary, endogenous synthesis of 24(S),25-epoxy selectively up-regulates expression of macrophage LXR-regulated cholesterol efflux genes without stimulating genes linked to fatty acid and triglyceride synthesis...
  76. pmc Adipokines and incident type 2 diabetes in an Aboriginal Canadian [corrected] population: the Sandy Lake Health and Diabetes Project
    Sylvia H Ley
    Department of Nutritional Sciences, University of Toronto, Toronto, Ontario, Canada
    Diabetes Care 31:1410-5. 2008
    ....
  77. pmc APOC1 T45S polymorphism is associated with reduced obesity indices and lower plasma concentrations of leptin and apolipoprotein C-I in aboriginal Canadians
    Piya Lahiry
    Robarts Research Institute, Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, Canada
    J Lipid Res 51:843-8. 2010
    ..0001), using a newly developed ELISA-based method. Taken together, these results suggest that at the whole human phenotype level, apo C-I is associated with the complex metabolic trait of obesity as well as with serum leptin levels...
  78. pmc Genetic testing for atherosclerosis risk: inevitability or pipe dream?
    Matthew Lanktree
    Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario
    Can J Cardiol 24:851-4. 2008
    ....
  79. ncbi request reprint Relationship of the ApoE polymorphism to plasma lipid traits among South Asians, Chinese, and Europeans living in Canada
    Debika Burman
    Population Health Research Institute, Hamilton Health Sciences and McMaster University, Hamilton, ON, Canada
    Atherosclerosis 203:192-200. 2009
    ..We examined the apolipoprotein E (ApoE) polymorphism, its association with lipid traits and atherosclerosis, and its influence on ethnic variations on lipid traits...
  80. ncbi request reprint Enhanced synthesis of the oxysterol 24(S),25-epoxycholesterol in macrophages by inhibitors of 2,3-oxidosqualene:lanosterol cyclase: a novel mechanism for the attenuation of foam cell formation
    Andrea H Rowe
    Robarts Research Institute, Vascular Biology Group, University of Western Ontario, 100 Perth Dr, London, Ontario, Canada
    Circ Res 93:717-25. 2003
    ....
  81. ncbi request reprint Rare ATGL haplotypes are associated with increased plasma triglyceride concentrations in the Greenland Inuit
    Christopher T Johansen
    Robarts Research Institute, University of Western Ontario, London, Canada
    Int J Circumpolar Health 69:3-12. 2010
    ..To genotype common genetic variants found in the adipose triglyceride lipase (ATGL) gene and test them for association with cardiovascular disease risk factors in the Greenland Inuit...
  82. ncbi request reprint Genetic determinants of plasma lipoproteins
    Rebecca L Pollex
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, Room 406, 100 Perth Drive, London, ON N6A 5K8, Canada
    Nat Clin Pract Cardiovasc Med 4:600-9. 2007
    ..Here, we review recent progress on genomic variants and cholesterol metabolism, and discuss the impact these genetic studies will have on clinical cardiology...
  83. ncbi request reprint CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism
    Henian Cao
    Robarts Research Institute, London, Ontario, N6A 5K8, Canada
    J Hum Genet 49:61-3. 2004
    ..We also identified and characterized a new common single nucleotide polymorphism in CKN1 in five groups...
  84. ncbi request reprint Non-invasive assessment of atherosclerosis risk
    J David Spence
    Stroke Prevention and Atherosclerosis Research Centre, 1400 Western Rd, London, ON, Canada N6G 2V2
    Curr Drug Targets Cardiovasc Haematol Disord 4:125-8. 2004
    ..In evaluating new determinants and novel therapies, it will be important to consider the biology and clinical correlates of a specific measured atherosclerosis phenotype in order to select the most appropriate modality...
  85. doi request reprint Advances in genomic analysis of stroke: what have we learned and where are we headed?
    Matthew B Lanktree
    Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada
    Stroke 41:825-32. 2010
    ..Intelligent, appropriately powered, multidisciplinary studies incorporating knowledge from clinical medicine, epidemiology, genetics, and molecular biology will be required to fully characterize the genomic contributors to stroke...
  86. pmc An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia
    Christopher T Johansen
    Department of Biochemistry, Robarts Research Institute, University of Western Ontario, London, Canada
    Arterioscler Thromb Vasc Biol 31:1916-26. 2011
    ..Here, we comprehensively analyzed 504 HLP-HTG patients and 1213 normotriglyceridemic controls and confirmed that a spectrum of common and rare lipid-associated variants underlies this heterogeneity...
  87. pmc HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community
    Barbara L Triggs-Raine
    Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada R3E 0W3
    Proc Natl Acad Sci U S A 99:4614-9. 2002
    ..The findings also show that HNF1A mutations can be associated with typical adult-onset insulin-resistant obesity-related diabetes in addition to maturity-onset diabetes of the young...
  88. ncbi request reprint Associations of plasma homocysteine and the methylenetetrahydrofolate reductase C677T polymorphism with carotid intima media thickness among South Asian, Chinese and European Canadians
    Linda E Kelemen
    Department of Health Sciences Research, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN, USA
    Atherosclerosis 176:361-70. 2004
    ..Few studies have evaluated the associations of plasma homocysteine concentration, the methylenetetrahydrofolate reductase (MTHFR) C677T genotype and B vitamin concentration with intima media thickness (IMT) in multiethnic populations...
  89. ncbi request reprint SNP judgments and freedom of association
    Robert A Hegele
    Arterioscler Thromb Vasc Biol 22:1058-61. 2002
  90. ncbi request reprint Blood pressure among the Inuit (Eskimo) populations in the Arctic
    Peter Bjerregaard
    National Institute of Public Health, Svanemollevej 25, DK 2100 Copenhagen, Denmark
    Scand J Public Health 31:92-9. 2003
    ..This study compared the blood pressure among the major Inuit population groups with other populations and examined the associations with factors like age, gender, obesity and smoking...
  91. ncbi request reprint Retinoid X receptor heterodimers in the metabolic syndrome
    Robert A Hegele
    N Engl J Med 353:2088. 2005
  92. ncbi request reprint Thr325Ile polymorphism of the TAFI gene is related to TAFI antigen plasma levels and angiographic restenosis after percutaneous coronary interventions
    Amit Segev
    The Roy and Ann Foss Cardiovascular Research Program, Division of Cardiology, Terrence Donnelly Heart Center, St Michael s Hospital, 30 Bond Street, University of Toronto, Toronto, Ontario M5B 1W8, Canada
    Thromb Res 114:137-41. 2004
    ..The aims of this study were to evaluate the relationship between Thr325Ile polymorphisms, plasma levels of TAFI antigen, and late angiographic restenosis after percutaneous coronary intervention (PCI)...
  93. ncbi request reprint 3D ultrasound imaging of the carotid arteries
    Aaron Fenster
    Robarts Research Institute, London, Ontario, Canada
    Curr Drug Targets Cardiovasc Haematol Disord 4:161-75. 2004
    ..This paper describes 3D ultrasound imaging techniques used to image the carotid arteries and summarizes some of the developments aimed at quantifying plaque volume and morphology...
  94. ncbi request reprint Phenomics, lamin A/C, and metabolic disease
    Robert A Hegele
    J Clin Endocrinol Metab 92:4566-8. 2007
  95. ncbi request reprint Noninvasive phenotypes of atherosclerosis: similar windows but different views
    J David Spence
    Robarts Research Institute, 1400 Western Rd, London, Ontario, Canada N6G 2V2
    Stroke 35:649-53. 2004
    ..For instance, total carotid plaque area may reflect atherosclerotic lesion size more closely than carotid stenosis, which instead may reflect hemodynamic compromise within the arterial lumen...
  96. ncbi request reprint Lipoprotein lipase (LPL) gene variation and progression of carotid artery plaque
    J David Spence
    Stroke Prevention and Atherosclerosis Research Centre, Robarts Research Institute, London, Ontario, Canada
    Stroke 34:1176-80. 2003
    ..We studied the association between LPL cSNPs and a novel noninvasive measure of disease, namely, cross-sectional carotid plaque area (CPA) on B-mode ultrasound...
  97. ncbi request reprint Stability of lipids on peritoneal dialysis in a patient with familial LCAT deficiency
    Catherine L Weber
    Department of Medicine, Section of Nephrology, Laboratory Medicine, University of British Columbia St Paul s Hospital, 1081 Burrard Street, Providence Building, Room 6010A, Vancouver, British Columbia, Canada V6Z 1Y6
    Nephrol Dial Transplant 22:2084-8. 2007