Genomes and Genes
J P Rubio
Affiliation: The Walter and Eliza Hall Institute of Medical Research
- The current state of multiple sclerosis genetic researchJ P Rubio
Department of Statistics, University of California, Berkeley, USA
Ann Acad Med Singapore 29:322-30. 2000..The different methodologies are discussed, and specific studies are reviewed in context...
- Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosisJustin P Rubio
Walter and Eliza Hall Institute of Medical Research, and Cooperative Research Centre for Discovery of Genes for Common Human Diseases, Melbourne, Victoria, Australia
Am J Hum Genet 70:1125-37. 2002..We propose that the analysis of haplotypes, by use of the types of approaches outlined in the present article, should make it possible to more accurately define the contribution of the HLA to MS...
- Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosisJustin P Rubio
Walter and Eliza Hall Institute of Medical Research, 3050 Parkville, Victoria, Australia
Hum Genet 114:573-80. 2004..1) and that it does not play an independent role in predisposition to MS. However, our findings provide the impetus for further investigations into the role of iron metabolism in the severity of MS...
- Heterogeneity at the HLA-DRB1 allelic variation locus does not influence multiple sclerosis disease severity, brain atrophy or cognitionAnneke van der Walt
Department of Neurology, The Royal Melbourne Hospital, Melbourne, Australia
Mult Scler 17:344-52. 2011..We examined the influence of DR15 and other common DRB1 alleles (DRB1*01 (DR1), DRB1*03 (DR3) and DRB1*04 (DR4) on MS severity in a large, Australian, population-based cohort...
- Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in AustraliansJ P Rubio
The Howard Florey Institute, Melbourne, Victoria, Australia
Genes Immun 9:624-30. 2008....
- SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in TasmaniansR K Burfoot
Howard Florey Institute, University of Melbourne, Melbourne, Victoria, Australia
Tissue Antigens 71:42-50. 2008..We have therefore identified plausible candidates for the causal MS susceptibility allele, and although not conclusive at this stage, our data provide suggestive evidence for multiple class I MS susceptibility genes...
- A DNA resequencing array for genes involved in Parkinson's diseaseE J Wilkins
Florey Neuroscience Institutes, Melbourne, Australia Centre for Neuroscience, The University of Melbourne, Australia
Parkinsonism Relat Disord 18:386-90. 2012....
- Interleukin-2 receptor-α proximal promoter hypomethylation is associated with multiple sclerosisJ Field
Multiple Sclerosis Division, The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Melbourne, Vic, Australia
Genes Immun . 2017..Our data suggest that differential methylation of the IL2RA promoter in T cells could be an important pathogenic mechanism in MS.Genes and Immunity advance online publication, 12 January 2017; doi:10.1038/gene.2016.50...
- Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonismD Z Loesch
School of Psychological Science, La Trobe University, Melbourne Bundoora, Victoria, Australia
Clin Genet 76:471-6. 2009..33, 95% CI: 1.06-5.13), compared with controls. The results suggest that the FMR1 grey zone alleles, as well as premutation alleles, might contribute to the aetiology of disorders associated with parkinsonism...
- Validation of linear cerebral atrophy markers in multiple sclerosisH Butzkueven
Multiple Sclerosis Clinical and Research Unit, The Royal Melbourne Hospital, Melbourne, Victoria, Australia
J Clin Neurosci 15:130-7. 2008..77, p<0.01) and TVW (R=-0.71, p<0.01). This study shows that ICD measurements obtained from clinical MRI scans are valid brain atrophy measures for use in monitoring MS progression...
- Plasmodium falciparum: the pfmdr2 protein is not overexpressed in chloroquine-resistant isolates of the malaria parasiteJ P Rubio
Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia
Exp Parasitol 79:137-47. 1994..These results support the evidence that pfmdr2 is not involved in the chloroquine resistance phenotype...
- Analysis of extended HLA haplotypes in multiple sclerosis and narcolepsy families confirms a predisposing effect for the class I region in Tasmanian MS patientsJustin P Rubio
The Neurogenetics Laboratory, The Howard Florey Institute, University of Melbourne, Melbourne, Victoria, Australia
Immunogenetics 59:177-86. 2007..0006; OR 2.83 [1.54-5.19]). Together, these data confirm that an alternate MS risk locus exists in the extended class I region in Tasmanian MS patients independent of DRB1*15...
- Variants of ST8SIA1 are associated with risk of developing multiple sclerosisSeema Husain
Institute of Genomic Medicine and Department of Pediatrics, UMDNJ New Jersey Medical School, Newark, New Jersey, United States of America
PLoS ONE 3:e2653. 2008..001, p = 0.01 and p = 0.01 respectively. These findings implicate ST8SIA1 as a possible novel susceptibility gene for MS...
- On the utility of data from the International HapMap Project for Australian association studiesJim Stankovich
Division of Genetics and Bioinformatics, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, 3050 Parkville, Victoria, Australia
Hum Genet 119:220-2. 2006..Patterns of LD in the Australian and HapMap samples are similar, and tag SNPs chosen using HapMap genotypes perform almost as well on Australian samples as tags chosen using Australian genotypes...
- Detecting genome wide haplotype sharing using SNP or microsatellite haplotype dataMelanie Bahlo
The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, 3050 Parkville, Vic, Australia
Hum Genet 119:38-50. 2006..The statistic has low type I error and greater power to map disease loci over conventional single marker tests for low to moderate levels of LD...
- Multiple sclerosis: a haplotype association studySimon J Foote
The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, Victoria 3050, Australia
Novartis Found Symp 267:31-9; discussion 39-45. 2005..These loci demonstrate an increase in sharing of multi-marker haplotypes in MS cases compared to both population control transmitted haplotypes and case non-transmitted haplotypes...
- Identifying nineteenth century genealogical links from genotypesJim Stankovich
Division of Genetics and Bioinformatics, Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia
Hum Genet 117:188-99. 2005....
- Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's diseaseYue Huang
Prince of Wales Medical Research Institute, University of New South Wales, Australia
Mov Disord 22:982-9. 2007..Our results demonstrate that the G2019S mutation carriers share the same ancestors who migrated to Australia originally from Europe and that other LRRK2 mutations (R1441H and A1442P) can be found in this population...