Genomes and Genes
Richard J N Allcock
Affiliation: University of Western Australia
- Complete MHC haplotype sequencing for common disease gene mappingC Andrew Stewart
Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom
Genome Res 14:1176-87. 2004....
- High-Density SNP genotyping defines 17 distinct haplotypes of the TNF block in the Caucasian population: implications for haplotype taggingRichard J N Allcock
School of Surgery and Pathology, University of Western Australia, QEII Medical Centre, Nedlands, Australia
Hum Mutat 24:517-25. 2004..Using the control individuals, we defined a further six haplotypes that account for an additional 10% of donors. We show that the 17 haplotypes of the "TNF block" can be identified using 15 SNPs...
- Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositisAdrian P Scott
School of Pathology and Laboratory Medicine, M504, University of Western Australia, Stirling Highway, Nedlands 6009, Perth, Australia
J Neuroimmunol 250:66-70. 2012..These NOTCH4 polymorphisms can be considered to be markers for sIBM susceptibility, but require further investigation to determine whether they are directly involved in the disease pathogenesis...
- Polymorphisms at positions -22 and -348 in the promoter of the BAT1 gene affect transcription and the binding of nuclear factorsPatricia Price
School of Surgery and Pathology, University of Western Australia, Nedlands 6009, and Department of Clinical Immunology and Biochemical Genetics, Royal Perth Hospital, Perth 6001, Australia
Hum Mol Genet 13:967-74. 2004..1 AH, whilst the reverse was observed with 336 bp fragments. This suggests BAT1 transcription on the 7.1 AH is modified by interactions involving DNA flanking positions -22 and -348...
- Alleles of the proximal promoter of BAT1, a putative anti-inflammatory gene adjacent to the TNF cluster, reduce transcription on a disease-associated MHC haplotypeAgnes M L Wong
Department of Pathology, University of Western Australia, Nedlands 6009, Western Australia
Genes Cells 8:403-12. 2003..We showed that BAT1 can reduce inflammatory cytokine production, supporting its candidacy as a disease gene. Here we examined the proximal promoter region of BAT1...
- Recombination mapping of the susceptibility region for sporadic inclusion body myositis within the major histocompatibility complexAdrian P Scott
School of Pathology and Laboratory Medicine, M504, University of Western Australia, Perth, Australia
J Neuroimmunol 235:77-83. 2011..1AH-specific susceptibility region was defined, spanning 172 kb and encompassing three genes--HLA-DRB3, HLA-DRA and BTNL2. It is thus likely that 8.1AH-derived susceptibility to sIBM originates from at least one of these genes...
- Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEmily J Todd
Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, WA, Australia
Orphanet J Rare Dis 10:148. 2015....
- Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathyGianina Ravenscroft
Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia 6009, Australia
Am J Hum Genet 93:6-18. 2013..Screening of KLHL40 should be a priority in individuals who are affected by autosomal-recessive NEM and who present with prenatal symptoms and/or contractures and in all Japanese individuals with severe NEM...
- The major histocompatibility complex: a paradigm for studies of the human genomeRichard J N Allcock
Lotterywest State Biomedical Facility Genomics, School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Australia
Methods Mol Biol 882:1-7. 2012..This article provides a brief overview of the MHC highlighting some of the issues that must be considered when developing new methods and assays...
- A promoter polymorphism in the central MHC gene, IKBL, influences the binding of transcription factors USF1 and E47 on disease-associated haplotypesAlvin Boodhoo
University of Mauritius, Reduit, Mauritius, Western Australia
Gene Expr 12:1-11. 2004..The restriction of IKBL expression to Jurkat cells is consistent with evidence that E47 is expressed in thymocytes and suggests IKBL may affect autoimmunity through an effect on T-cell selection...