Kathryn P Burdon

Summary

Affiliation: Flinders University
Country: Australia

Publications

  1. doi request reprint Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia
    Ophthalmology 119:1539-45. 2012
  2. doi request reprint Genome-wide association studies in the hunt for genes causing primary open-angle glaucoma: a review
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia
    Clin Exp Ophthalmol 40:358-63. 2012
  3. pmc Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Adelaide, Australia
    Mol Vis 14:1799-804. 2008
  4. pmc Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Adelaide, Australia
    Mol Vis 16:2286-93. 2010
  5. doi request reprint A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia
    Am J Med Genet A 149:633-9. 2009
  6. pmc Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia
    Invest Ophthalmol Vis Sci 52:8514-9. 2011
  7. doi request reprint Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, Adelaide, SA, 5042, Australia
    Hum Genet 124:379-86. 2008
  8. ncbi request reprint The PITX3 gene in posterior polar congenital cataract in Australia
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia
    Mol Vis 12:367-71. 2006
  9. doi request reprint Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry
    Emmanuelle Souzeau
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia
    Ophthalmology 120:1135-43. 2013
  10. pmc Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness
    David P Dimasi
    Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia
    Mol Vis 16:562-9. 2010

Detail Information

Publications78

  1. doi request reprint Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia
    Ophthalmology 119:1539-45. 2012
    ..This study aimed to dissect the association further and to determine genotype-phenotype correlations between genetic variation at this locus and a range of glaucoma-related traits in a large cohort of POAG patients...
  2. doi request reprint Genome-wide association studies in the hunt for genes causing primary open-angle glaucoma: a review
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia
    Clin Exp Ophthalmol 40:358-63. 2012
    ..This review explores findings of genome-wide association studies for POAG and related traits...
  3. pmc Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Adelaide, Australia
    Mol Vis 14:1799-804. 2008
    ..To identify the causative gene for autosomal dominant total congenital cataract in a six-generation Australian family displaying linkage to chromosome 1p36...
  4. pmc Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Adelaide, Australia
    Mol Vis 16:2286-93. 2010
    ..However, the role of common variation in the gene in relation to POAG has not been thoroughly explored...
  5. doi request reprint A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia
    Am J Med Genet A 149:633-9. 2009
    ..This family represents a new syndrome of familial cataract, dysmorphic features, short stature and developmental delay with probable autosomal inheritance and variable expressivity...
  6. pmc Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia
    Invest Ophthalmol Vis Sci 52:8514-9. 2011
    ..Although several genomic regions have been linked to rare familial forms of keratoconus, no genes have yet been definitively identified for common forms of the disease...
  7. doi request reprint Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, Adelaide, SA, 5042, Australia
    Hum Genet 124:379-86. 2008
    ..Although the pedigree appears to demonstrate simple autosomal dominant inheritance, the disorder is actually genetically complex. This pedigree may provide a link between inherited forms of keratoconus and sporadic cases...
  8. ncbi request reprint The PITX3 gene in posterior polar congenital cataract in Australia
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia
    Mol Vis 12:367-71. 2006
    ..Many genes are known to cause the disorder. A large multigenerational pedigree was investigated for the genetic cause of a posterior polar autosomal dominant congenital cataract...
  9. doi request reprint Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry
    Emmanuelle Souzeau
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia
    Ophthalmology 120:1135-43. 2013
    ....
  10. pmc Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness
    David P Dimasi
    Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia
    Mol Vis 16:562-9. 2010
    ..As CCT is an identified risk factor for open-angle glaucoma, understanding the genes involved in CCT determination could improve our understanding of the mechanisms involved in this association...
  11. doi request reprint Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye
    Shiwani Sharma
    Department of Ophthalmology, Flinders University, GPO Box 2100, Adelaide 5001, Australia
    Invest Ophthalmol Vis Sci 53:4917-25. 2012
    ....
  12. pmc Genetic analysis of the clusterin gene in pseudoexfoliation syndrome
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Adelaide, Australia
    Mol Vis 14:1727-36. 2008
    ..We investigated the association of genetic variants across CLU in pseudoexfoliation syndrome and analyzed molecular characteristics of the encoded protein in ocular tissues...
  13. pmc A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma
    Mona S Awadalla
    Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia
    Mol Vis 18:2247-54. 2012
    ..To investigate the underlying genetic variation between candidate genes and primary angle closure glaucoma (PACG) in both Nepalese and Australian populations...
  14. pmc A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32
    Kathryn Hattersley
    Department of Ophthalmology, Flinders University, Adelaide, SA, Australia
    BMC Med Genet 11:165. 2010
    ..Large scale chromosomal re-arrangements had previously been ruled out. We have conducted a genome-wide scan to map the linkage region in this family...
  15. doi request reprint Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma
    David P Dimasi
    Department of Ophthalmology, Flinders University, Adelaide, Australia
    Am J Ophthalmol 154:833-842.e2. 2012
    ..To ascertain if single nucleotide polymorphisms (SNPs) involved in the determination of central corneal thickness, optic disc area, and vertical cup-to-disc ratio (VCDR) also are associated with open-angle glaucoma (OAG)...
  16. doi request reprint Relationship between DDAH gene variants and serum ADMA level in individuals with type 1 diabetes
    Rhys D Fogarty
    Department of Ophthalmology, Flinders Medical Centre and Flinders University, South Australia, Australia
    J Diabetes Complications 26:195-8. 2012
    ..This differs to findings in T2DM and may be due to underlying differences in the cohorts or to fundamental differences in the pathogenesis of the two types of diabetes...
  17. doi request reprint Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes
    David P Dimasi
    Department of Ophthalmology, Flinders University, Adelaide, SA 5042, Australia
    Hum Genet 127:33-44. 2010
    ....
  18. doi request reprint Common sequence variation in the VEGFA gene predicts risk of diabetic retinopathy
    Sotoodeh Abhary
    Department of Ophthalmology, Flinders Medical Centre and Flinders University, Adelaide, South Australia
    Invest Ophthalmol Vis Sci 50:5552-8. 2009
    ..This study was conducted to determine whether common sequence variation in the VEGFA gene plays a role in the development of diabetic retinopathy (DR)...
  19. doi request reprint Identification of a novel MYOC mutation, p.(Trp373), in a family with open angle glaucoma
    April Crawford
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia
    Gene 545:271-5. 2014
    ..1119G>A, p.(Trp373), predicted to encode an aberrant truncated MYOC protein in two affected siblings. Two unaffected siblings and an unaffected niece were negative for the MYOC sequence variant...
  20. pmc Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia
    Alpana Dave
    Department of Ophthalmology, Flinders University, Bedford Park, SA, Australia
    PLoS ONE 8:e72518. 2013
    ..Thus mutations in EPHA2 account for 4.7% of inherited cataract cases in South-Eastern Australia. Interestingly, the identified rare variant provides a link between congenital and age-related cataract. ..
  21. doi request reprint Association of eNOS polymorphisms with primary angle-closure glaucoma
    Mona S Awadalla
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia
    Invest Ophthalmol Vis Sci 54:2108-14. 2013
    ..We investigated the association of these candidate genes with PACG in samples from Australia and Nepal...
  22. pmc Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process
    Abraham Kuot
    Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia
    Eur J Hum Genet 20:632-8. 2012
    ..Differential expression of CLU and TGFBI proteins in FED-affected corneas provides novel insights into the disease mechanism...
  23. pmc Rapid inexpensive genome-wide association using pooled whole blood
    Jamie E Craig
    Department of Ophthalmology, Flinders University, Adelaide SA 5042, Australia
    Genome Res 19:2075-80. 2009
    ..This method has profound implications for translation of modern genetic approaches to a multitude of diseases and traits yet to be analyzed by GWAS, and will enable developing nations to participate in GWAS...
  24. doi request reprint Elevation of serum asymmetrical and symmetrical dimethylarginine in patients with advanced glaucoma
    Shahrbanou Javadiyan
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia
    Invest Ophthalmol Vis Sci 53:1923-7. 2012
    ..In addition, we have investigated genetic variation in the DDAH1 and DDAH2 genes, encoding the enzymes responsible for degradation of ADMA, for association with ADMA level in glaucoma patients and controls...
  25. pmc Diabetic retinopathy is associated with elevated serum asymmetric and symmetric dimethylarginines
    Sotoodeh Abhary
    Department of Ophthalmology, Flinders Medical Centre and Flinders University, Bedford Park, Australia
    Diabetes Care 32:2084-6. 2009
    ..Our objective was to test whether serum ADMA, SDMA, or l-arginine levels correlate with diabetic retinopathy subtype or severity...
  26. doi request reprint Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma
    Soo Khai Ng
    Department of Ophthalmology Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia 2Ophthalmic Research Laboratories, South Australian Institute of Ophthalmology, University of Adelaide, Adelaide, South Australia, Australia
    Invest Ophthalmol Vis Sci 57:3416-21. 2016
    ..We aimed to determine whether any observed differences in genetic association at the 9p21 locus are influenced by sex...
  27. doi request reprint Promoter polymorphism at the tumour necrosis factor/lymphotoxin-alpha locus is associated with type of diabetes but not with susceptibility to sight-threatening diabetic retinopathy
    Georgia Kaidonis
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA, Australia
    Diab Vasc Dis Res 13:164-7. 2016
    ....
  28. pmc Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus
    Ha Ae Bae
    Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia
    Invest Ophthalmol Vis Sci 54:5132-5. 2013
    ..identified 15 potentially associated single nucleotide polymorphisms (SNPs). Here, we aimed to replicate these associations, and conduct a meta-analysis of the current and previous studies...
  29. doi request reprint Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family
    Kate J Laurie
    Department of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, SA, Australia
    Hum Mutat 34:435-8. 2013
    ....
  30. pmc Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population
    Mona S Awadalla
    Ophthalmology Department, Flinders University, Adelaide, South Australia, Australia
    Mol Vis 17:1420-4. 2011
    ..To investigate the association between genetic variation at the matrix metalloproteinase-9 (MMP9) locus and primary angle closure glaucoma (PACG) in an Australian Caucasian population...
  31. doi request reprint Heritability of central corneal thickness in nuclear families
    John A Landers
    Department of Ophthalmology, Flinders Medical Centre, Adelaide, South Australia
    Invest Ophthalmol Vis Sci 50:4087-90. 2009
    ..This study was designed to investigate the parent-child heritability of CCT among groups who have CCT considered to be at the extreme ends of the normal range...
  32. ncbi request reprint Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people
    Alex W Hewitt
    Flinders Medical Centre, Department of Ophthalmology, Flinders University, Adelaide, Australia
    Hum Mol Genet 17:710-6. 2008
    ..This strongly suggests that as yet unidentified genetic or environmental factors independent of LOXL1 strongly influence the phenotypic expression of the syndrome...
  33. doi request reprint Biological effect of LOXL1 coding variants associated with pseudoexfoliation syndrome
    Shiwani Sharma
    Department of Ophthalmology, Flinders University, Bedford Park, South Australia 5042, Australia Electronic address
    Exp Eye Res 146:212-23. 2016
    ..The findings indicate that the disease associated coding variants themselves may be involved in the manifestation of PEX syndrome. ..
  34. doi request reprint Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss
    Emmanuelle Souzeau
    Department of Ophthalmology, Flinders Medical Centre, Flinders University, Adelaide, Australia
    JAMA Ophthalmol 133:826-33. 2015
    ..Juvenile open-angle glaucoma (JOAG) is a severe neurodegenerative eye disorder in which most of the genetic contribution remains unexplained...
  35. doi request reprint Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia
    Nat Genet 43:574-8. 2011
    ..35 × 10(-14), OR = 1.39, 95% CI 1.28-1.51). We show retinal expression of genes at both loci in human ocular tissues. We also show that CDKN2A and CDKN2B are upregulated in the retina of a rat model of glaucoma...
  36. doi request reprint Association between erythropoietin gene polymorphisms and diabetic retinopathy
    Scotoodeh Abhary
    Department of Ophthalmology, Flinders Medical Centre, Bedford Park, Adelaide, South Australia
    Arch Ophthalmol 128:102-6. 2010
    ..To determine whether sequence variation in the erythropoietin gene (EPO) is associated with the development of diabetic retinopathy (DR)...
  37. pmc Aldose reductase gene polymorphisms and diabetic retinopathy susceptibility
    Sotoodeh Abhary
    Department of Ophthalmology, Flinders Medical Centre and Flinders University, Adelaide, South Australia, Australia
    Diabetes Care 33:1834-6. 2010
    ..A recent meta-analysis found genetic variation in the ALR gene (AKR1B1) to be significantly associated with diabetic retinopathy (DR). We investigated the genetic association of AKR1B1 with DR...
  38. pmc The association of hepatocyte growth factor (HGF) gene with primary angle closure glaucoma in the Nepalese population
    Mona S Awadalla
    Department of Ophthalmology, Flinders University, Flinders Medical Centre Adelaide, South Australia
    Mol Vis 17:2248-54. 2011
    ..This study aimed to investigate whether genetic variation in HGF is associated with primary angle closure glaucoma in the Nepalese population...
  39. pmc Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype
    David P Dimasi
    Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia
    PLoS ONE 6:e22103. 2011
    ..001) genes. These findings provide support for our hypothesis that pigmentation is associated with CCT and identifies pigment-related genes as candidates for developmental determination of a non-pigmented structure...
  40. doi request reprint Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals
    Emmanuelle Souzeau
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia
    Ophthalmology . 2016
    ....
  41. doi request reprint A single-nucleotide polymorphism in the MicroRNA-146a gene is associated with diabetic nephropathy and sight-threatening diabetic retinopathy in Caucasian patients
    Georgia Kaidonis
    Department of Ophthalmology, Flinders Medical Centre, Flinders University, GPO Box 2100, Adelaide, SA, 5001, Australia
    Acta Diabetol 53:643-50. 2016
    ....
  42. doi request reprint Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene
    Kathryn P Burdon
    Department of Ophthalmology, Flinders Medical Centre, Flinders University, GPO Box 2100, Adelaide, SA, 5001, Australia
    Diabetologia 58:2288-97. 2015
    ..Here, we aimed to identify novel genetic risk factors for sight-threatening diabetic retinopathy using a genome-wide association study...
  43. pmc CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma
    Emmanuelle Souzeau
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia
    Mol Vis 21:160-4. 2015
    ....
  44. pmc Association of genetic variants with primary angle closure glaucoma in two different populations
    Mona S Awadalla
    Department of Ophthalmology, Flinders University, Flinders Medical Centre Adelaide, South Australia, Australia
    PLoS ONE 8:e67903. 2013
    ..The present study investigated the role of these variants in two cohorts with PACG recruited from Australia and Nepal...
  45. pmc Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract
    Shari Javadiyan
    Department of Ophthalmology, School of Medicine, Flinders Medical Centre, Flinders University, Rm 4D 111 1, Flinders Dr, Bedford Park, Adelaide, 5042, Australia
    BMC Res Notes 9:83. 2016
    ..The purpose of this study was to determine the genetic cause of paediatric cataract in a South Australian family with a bilateral lamellar paediatric cataract displaying variable phenotypes...
  46. doi request reprint Common Sequence Variation in the VEGFC Gene Is Associated with Diabetic Retinopathy and Diabetic Macular Edema
    Georgia Kaidonis
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia Electronic address
    Ophthalmology 122:1828-36. 2015
    ..To investigate associations between single nucleotide polymorphisms (SNPs) in the VEGFC gene and the development of diabetic retinopathy (DR) in white patients with type 1 diabetes mellitus (T1DM) or type 2 diabetes mellitus (T2DM)...
  47. doi request reprint Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12
    Mona S Awadalla
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia
    JAMA Ophthalmol 132:970-7. 2014
    ..Nanophthalmos is a congenital disorder characterized by small eyes, with the main complications being severe hyperopia and angle-closure glaucoma...
  48. pmc Ocular expression and distribution of products of the POAG-associated chromosome 9p21 gene region
    Glyn Chidlow
    Ophthalmic Research Laboratories, South Australian Institute of Ophthalmology, Hanson Institute Centre for Neurological Diseases, Adelaide, South Australia, Australia Department of Ophthalmology and Visual Sciences, University of Adelaide, Adelaide, South Australia, Australia
    PLoS ONE 8:e75067. 2013
    ..The presented data provide the basis for future studies that can explore the roles that these gene products may play in the pathogenesis of glaucoma and other models of optic nerve damage. ..
  49. doi request reprint Insights into keratoconus from a genetic perspective
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia
    Clin Exp Optom 96:146-54. 2013
    ..These gene identifications are beginning to reveal the molecular aetiology of keratoconus but despite this recent progress, there remain numerous genetic risk factors to be identified for this relatively common yet complex disease...
  50. pmc A novel locus for X-linked congenital cataract on Xq24
    Jamie E Craig
    Department of Ophthalmology, Flinders University, Adelaide, SA, Australia
    Mol Vis 14:721-6. 2008
    ..This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype...
  51. doi request reprint Identification of LOXL1 protein and Apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry
    Shiwani Sharma
    Department of Ophthalmology, Flinders University, Bedford Park, South Australia 5042, Australia
    Exp Eye Res 89:479-85. 2009
    ..In conclusion, additional as yet unknown components are present in pathological PEX deposits and mass spectrometry of "isolated" PEX material is an effective strategy for their identification...
  52. pmc A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma
    Emmanuelle Souzeau
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia
    BMC Med Genet 17:30. 2016
    ..MYOC variants are usually inherited, however a fifth of carriers do not report a family history. The occurrence of de novo MYOC variants is currently unknown...
  53. pmc EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS
    Alpana Dave
    Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia
    Mol Vis 22:18-30. 2016
    ..The aim of this study was to determine the effect of congenital cataract causing mutations in the EPHA2 gene on the encoded protein in epithelial cells...
  54. pmc Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research
    Emmanuelle Souzeau
    Department of Ophthalmology Flinders University, Flinders Medical Centre, Adelaide, Australia
    Transl Vis Sci Technol 5:3. 2016
    ....
  55. doi request reprint Chromosome 9p21 primary open-angle glaucoma susceptibility locus: a review
    Soo Khai Ng
    South Australian Institute of Ophthalmology, Royal Adelaide Hospital, Adelaide, South Australia, Australia University of Adelaide, Adelaide, South Australia, Australia
    Clin Experiment Ophthalmol 42:25-32. 2014
    ..Herein, we provide a review of the chromosome 9p21 susceptibility locus as a risk factor for POAG. ..
  56. doi request reprint Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment
    Emmanuelle Souzeau
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, SA 5042, Australia
    Clin Experiment Ophthalmol 40:569-75. 2012
    ..Furthermore, unravelling genetic risk factors for glaucoma would also allow a better understanding of the pathogenesis of the condition and the development of new treatments...
  57. doi request reprint MALDI-MS-imaging of whole human lens capsule
    Maurizio Ronci
    School of Chemical and Physical Sciences, Flinders University, Bedford Park SA 5042, Australia
    J Proteome Res 10:3522-9. 2011
    ....
  58. pmc Association of open-angle glaucoma loci with incident glaucoma in the Blue Mountains Eye Study
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Adelaide, Australia Menzies Research Institute Tasmania, University of Tasmania, Hobart, Australia Electronic address
    Am J Ophthalmol 159:31-6.e1. 2015
    ..To determine if open-angle glaucoma (OAG)-associated single nucleotide polymorphisms (SNPs) are associated with incident glaucoma and if such genetic information is useful in OAG risk prediction...
  59. doi request reprint Review of the prevalence of diabetic retinopathy in Indigenous Australians
    Georgia Kaidonis
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia
    Clin Experiment Ophthalmol 42:875-82. 2014
    ....
  60. doi request reprint Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma
    Emmanuelle Souzeau
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia
    Genet Med 16:558-63. 2014
    ..The Australian and New Zealand Registry of Advanced Glaucoma has established genetic testing protocols for known glaucoma genes, including MYOC...
  61. pmc Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
    Shiwani Sharma
    Department of Ophthalmology, Flinders University, Bedford Park, South Australia, Australia
    Mol Vis 14:1856-64. 2008
    ..This study aimed to identify the causative mutations in new patients diagnosed with Nance-Horan syndrome and to investigate the effect of mutations on subcellular localization of the NHS-A protein...
  62. doi request reprint Functional and structural implications of the complement factor H Y402H polymorphism associated with age-related macular degeneration
    Rebecca J Ormsby
    Department of Microbiology and Infectious Diseases, Flinders Medical Centre and Flinders University of South Australia, Bedford Park, SA 5042, Australia
    Invest Ophthalmol Vis Sci 49:1763-70. 2008
    ....
  63. pmc Sequence variation in DDAH1 and DDAH2 genes is strongly and additively associated with serum ADMA concentrations in individuals with type 2 diabetes
    Sotoodeh Abhary
    Department of Ophthalmology, Flinders Medical Centre and Flinders University, Adelaide, South Australia, Australia
    PLoS ONE 5:e9462. 2010
    ..We sought to determine whether serum ADMA levels in type 2 diabetes are influenced by common polymorphisms in the DDAH1 and DDAH2 genes...
  64. pmc Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma
    Mona S Awadalla
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia Electronic address
    Am J Ophthalmol 159:124-30.e1. 2015
    ..To investigate the presence of TBK1 copy number variations in a large, well-characterized Australian cohort of patients with glaucoma comprising both normal-tension glaucoma and high-tension glaucoma cases...
  65. pmc A systematic meta-analysis of genetic association studies for diabetic retinopathy
    Sotoodeh Abhary
    Department of Ophthalmology, Flinders Medical Centre and Flinders University, SA, Australia
    Diabetes 58:2137-47. 2009
    ..A systematic meta-analysis was undertaken to collectively assess genetic studies and determine which previously investigated polymorphisms are associated with diabetic retinopathy...
  66. ncbi request reprint A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site
    Kathryn P Burdon
    Department of Ophthalmology, Flinders University, Bedford Park, Australia
    Hum Mutat 28:742. 2007
    ..The initial primers for amplifying the IRE similar to those used by other researchers failed to detect this mutation. Therefore the genomic region assessed in HHCS cases for diagnosis should be expanded to include mutations of this type...
  67. doi request reprint Genetic study of diabetic retinopathy: recruitment methodology and analysis of baseline characteristics
    Georgia Kaidonis
    Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia
    Clin Experiment Ophthalmol 42:486-93. 2014
    ..Here we describe the patient recruitment methodology, case and control definitions, and clinical characteristics of a study sample to be used for genome-wide association analysis to detect genetic risk variants of DR...
  68. pmc Genetic analysis of the soluble epoxide hydrolase gene, EPHX2, in subclinical cardiovascular disease in the Diabetes Heart Study
    Kathryn P Burdon
    Department of Biochemistry, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Diab Vasc Dis Res 5:128-34. 2008
    ..057 and 0.080, respectively). These results provide additional evidence that EPHX2 contributes to the risk of subclinical CVD, although the true trait defining polymorphisms may not be identified and the effect size could be small...
  69. pmc Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
    Kathryn P Burdon
    Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia
    Am J Hum Genet 73:1120-30. 2003
    ....
  70. ncbi request reprint Variants of the CD40 gene but not of the CD40L gene are associated with coronary artery calcification in the Diabetes Heart Study (DHS)
    Kathryn P Burdon
    Department of Biochemistry, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Am Heart J 151:706-11. 2006
    ..These processes are implicated in the development and progression of atherosclerosis. Animal models demonstrate that interruption of CD40/CD40L signaling produces a more fibrous and stable atherosclerotic lesion...
  71. ncbi request reprint Variability of serum soluble intercellular adhesion molecule-1 measurements attributable to a common polymorphism
    Thomas C Register
    Department of Pathology, Section on Comparative Medicine, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Clin Chem 50:2185-7. 2004
  72. ncbi request reprint T-786C polymorphism of the endothelial nitric oxide synthase gene is associated with albuminuria in the diabetes heart study
    Yongmei Liu
    Wake Forest University School of Medicine, Department of Public Health Sciences, Medical Center Boulevard, Winston Salem, NC 27157, USA
    J Am Soc Nephrol 16:1085-90. 2005
    ..The -786C eNOS variant was positively correlated with a higher prevalence and a greater degree of albuminuria in European American families in both diabetic and nondiabetic family members...
  73. ncbi request reprint Investigation of albinism genes in congenital esotropia
    Kathryn P Burdon
    Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia
    Mol Vis 9:710-4. 2003
    ..We investigated the hypothesis that mutations in the albinism genes Tyrosinase, the P Gene, and TYRP1 may also be responsible for congenital esotropia via a similar mechanism...
  74. ncbi request reprint Association of alpha2-Heremans-Schmid glycoprotein polymorphisms with subclinical atherosclerosis
    Allison B Lehtinen
    Department of Biochemistry, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, North Carolina 27157, USA
    J Clin Endocrinol Metab 92:345-52. 2007
    ....
  75. ncbi request reprint Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease
    Judith A Engeler Dusel
    Department of Internal Medicine, Center for Human Genomics, Biochemistry, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, North Carolina 27157 1053, USA
    Kidney Int 68:256-62. 2005
    ..Evidence for linkage of end-stage renal disease (ESRD) to chromosome 1q25-31 in the region of NPHS2 has been identified in a genome-wide scan in African American (AA) siblings...
  76. pmc Association of arachidonate 12-lipoxygenase genotype variation and glycemic control with albuminuria in type 2 diabetes
    Yongmei Liu
    Division of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, NC, UAS
    Am J Kidney Dis 52:242-50. 2008
    ..These products can induce cell hypertrophy, cell proliferation, and extracellular matrix deposition, potentially leading to diabetic nephropathy...
  77. ncbi request reprint P-selectin gene haplotype associations with albuminuria in the Diabetes Heart Study
    Yongmei Liu
    Department of Public Health Sciences, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    Kidney Int 68:741-6. 2005
    ..We investigated the relationship between P-selectin gene polymorphisms and albuminuria in 565 European American siblings (84% with type 2 diabetes) from 227 families participating in the Diabetes Heart Study (DHS)...
  78. ncbi request reprint Association of protein tyrosine phosphatase-N1 polymorphisms with coronary calcified plaque in the Diabetes Heart Study
    Kathryn P Burdon
    Department of Biochemistry, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, NC 27157, USA
    Diabetes 55:651-8. 2006
    ..53 +/- 0.1 to 0.57 +/- 0.1 (P = 8.1 x 10(-10)), suggesting a modest but detectable effect of this gene on the phenotype of CorCP in type 2 diabetic patients...