Research Topics
Species | Henian CaoSummaryCountry: Brazil Publications
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Publications
CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphismHenian 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...- Cockayne syndrome type A: novel mutations in eight typical patientsDebora R Bertola
Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of Sao Paulo, Sao Paulo, Brazil
J Hum Genet 51:701-5. 2006..While the findings extend the range of mutations in CS-A, there is no obvious genotype-phenotype correlation across the mutational spectrum... - PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotypeDebora R Bertola
Clinical Genetics Unit, Instituto da Criança do Hospital das Clínicas, University of Sao Paulo, Sao Paulo, Brazil
Genet Test 10:186-91. 2006..Noonan- like/multiple giant cell lesion syndrome, part of the spectrum of Noonan syndrome, is also heterogeneous... - Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS geneDebora Romeo Bertola
Department of Pediatrics, Instituto da Criança, HC, University of Sao Paulo, Av Dr Eneas Carvalho de Aguiar, 647, Cerqueira Cesar, 05403 900, Sao Paulo, SP, Brazil
J Hum Genet 52:521-6. 2007..This description emphasizes that a subset of patients with Costello syndrome could harbor mutations in other genes involved in the RAS-MAPK signaling... - A single nucleotide polymorphism in protein tyrosine phosphatase PTP-1B is associated with protection from diabetes or impaired glucose tolerance in Oji-CreeAndrea 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... - Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gammaHoushang Monajemi
Academic Medical Center, Department of Vascular Medicine, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
J Clin Endocrinol Metab 92:1606-12. 2007..The LMNA form is called FPLD2 (MIM 151660) and the PPARG form is called FPLD3 (MIM 604367)... - Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS GeneAn C M Jansen
Department of Pediatric Neurology, UZ Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium
Arch Neurol 64:1629-34. 2007.... - Alstrom syndrome (OMIM 203800): a case report and literature reviewTisha 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... - Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemiaHenian 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)... - A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2Chantal F Morel
Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, London, Ontario, Canada
J Clin Endocrinol Metab 91:2689-95. 2006..CONCLUSIONS: This is the first LMNA splicing mutation to be associated with FPLD2, and it causes a severe clinical and metabolic phenotype... - 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... - 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... - Maturity-onset diabetes of the young (MODY) mutation in type 2 diabetes and latent autoimmune diabetes of the adultJames McKinney
Diabetes Care 26:3358-9. 2003 - Genes, environment and Oji-Cree type 2 diabetesRobert 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... - Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfataseAndrea Mok
Robarts Research Institute, London, Ontario, Canada N6A 5K8
Genomics 81:1-5. 2003..This first report of a mutation in GNS resulting in MPS IIID indicates the potential utility of molecular diagnosis for this rare condition... - 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 lipodystrophyRobert 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... - PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophyRobert 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... - 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... - 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... - Polygenic determinants of severe hypertriglyceridemiaJian 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...