Richard A Sturm

Summary

Affiliation: University of Queensland
Country: Australia

Publications

  1. ncbi request reprint Novel MC1R variants in Ligurian melanoma patients and controls
    Lorenza Pastorino
    Dipartimento di Oncologia, Biologia e Genetica, Universita degli Studi di Genova, 16132, Italy
    Hum Mutat 24:103. 2004
  2. ncbi request reprint Eye colour: portals into pigmentation genes and ancestry
    Richard A Sturm
    Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia
    Trends Genet 20:327-32. 2004
  3. pmc Human pigmentation genes under environmental selection
    Richard A Sturm
    Institute for Molecular Bioscience, Melanogenix Group, The University of Queensland, Brisbane, QLD 4072, Australia
    Genome Biol 13:248. 2012
  4. ncbi request reprint Skin colour and skin cancer - MC1R, the genetic link
    R A Sturm
    Institute for Moleular Bioscience, University of Queensland, Brisbane, Australia
    Melanoma Res 12:405-16. 2002
  5. ncbi request reprint Genetic association and cellular function of MC1R variant alleles in human pigmentation
    R A Sturm
    Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia
    Ann N Y Acad Sci 994:348-58. 2003
  6. ncbi request reprint The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes
    Richard A Sturm
    Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia
    Pigment Cell Res 16:266-72. 2003
  7. ncbi request reprint A golden age of human pigmentation genetics
    Richard A Sturm
    Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia
    Trends Genet 22:464-8. 2006
  8. ncbi request reprint Osteonectin/SPARC induction by ectopic beta(3) integrin in human radial growth phase primary melanoma cells
    Richard A Sturm
    The Wistar Institute, Philadelphia, Pennsylvania 19104, USA
    Cancer Res 62:226-32. 2002
  9. ncbi request reprint Human pigmentation genes: identification, structure and consequences of polymorphic variation
    R A Sturm
    Centre for Functional and Applied Genomics, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia
    Gene 277:49-62. 2001
  10. doi request reprint Molecular genetics of human pigmentation diversity
    Richard A Sturm
    Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia
    Hum Mol Genet 18:R9-17. 2009

Collaborators

Detail Information

Publications69

  1. ncbi request reprint Novel MC1R variants in Ligurian melanoma patients and controls
    Lorenza Pastorino
    Dipartimento di Oncologia, Biologia e Genetica, Universita degli Studi di Genova, 16132, Italy
    Hum Mutat 24:103. 2004
    ....
  2. ncbi request reprint Eye colour: portals into pigmentation genes and ancestry
    Richard A Sturm
    Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia
    Trends Genet 20:327-32. 2004
    ..These studies show that the OCA2 gene on chromosome 15 is the major determinant of brown and/or blue eye colour but also indicate that other loci will be involved in the broad range of hues seen in this trait in Europeans...
  3. pmc Human pigmentation genes under environmental selection
    Richard A Sturm
    Institute for Molecular Bioscience, Melanogenix Group, The University of Queensland, Brisbane, QLD 4072, Australia
    Genome Biol 13:248. 2012
    ..Environmental changes have had an impact on selected pigmentation genes as populations have expanded into different regions of the globe...
  4. ncbi request reprint Skin colour and skin cancer - MC1R, the genetic link
    R A Sturm
    Institute for Moleular Bioscience, University of Queensland, Brisbane, Australia
    Melanoma Res 12:405-16. 2002
    ....
  5. ncbi request reprint Genetic association and cellular function of MC1R variant alleles in human pigmentation
    R A Sturm
    Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia
    Ann N Y Acad Sci 994:348-58. 2003
    ..With this objective, we have established more than 300 melanocyte cell strains of defined MC1R genotype...
  6. ncbi request reprint The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes
    Richard A Sturm
    Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia
    Pigment Cell Res 16:266-72. 2003
    ..Such genetic association studies combined with the functional analysis of MC1R variant alleles in melanocytic cells should provide a link in understanding the association between pigmentary phototypes and skin cancer risk...
  7. ncbi request reprint A golden age of human pigmentation genetics
    Richard A Sturm
    Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia
    Trends Genet 22:464-8. 2006
    ..SLC24A5 promotes melanin deposition through maturation of the melanosome, highlighting the importance of ion-exchange in the function of this organelle...
  8. ncbi request reprint Osteonectin/SPARC induction by ectopic beta(3) integrin in human radial growth phase primary melanoma cells
    Richard A Sturm
    The Wistar Institute, Philadelphia, Pennsylvania 19104, USA
    Cancer Res 62:226-32. 2002
    ....
  9. ncbi request reprint Human pigmentation genes: identification, structure and consequences of polymorphic variation
    R A Sturm
    Centre for Functional and Applied Genomics, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia
    Gene 277:49-62. 2001
    ..Functional correlation of MC1R alleles with skin and hair colour provides evidence that this receptor molecule is a principle component underlying normal human pigment variation...
  10. doi request reprint Molecular genetics of human pigmentation diversity
    Richard A Sturm
    Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia
    Hum Mol Genet 18:R9-17. 2009
    ..From a culmination of genetic and functional studies, it is apparent that a number of genes impacting melanosome biogenesis or the melanin biosynthetic pathway are candidates to explain the diversity seen in human pigmentation...
  11. doi request reprint Genetics of human iris colour and patterns
    Richard A Sturm
    Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia
    Pigment Cell Melanoma Res 22:544-62. 2009
    ..Major candidate genes possibly effecting iris patterns are also discussed, including MITF and PAX6...
  12. ncbi request reprint Screening of human primary melanocytes of defined melanocortin-1 receptor genotype: pigmentation marker, ultrastructural and UV-survival studies
    J Helen Leonard
    Queensland Radium Institute Research Unit, Queensland Institute of Medical Research, Herston, Brisbane, Queensland, Australia
    Pigment Cell Res 16:198-207. 2003
    ..This was despite being able to show expression of tyrosinase and tyrosinase-related protein-1 markers, although at reduced levels and an ability to convert exogenous 3,4-dihydroxyphenyl-alanine (DOPA) to melanin in these strains...
  13. doi request reprint Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci
    Anthony L Cook
    Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Queensland, Australia
    J Invest Dermatol 129:392-405. 2009
    ....
  14. pmc Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma
    David L Duffy
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia
    J Invest Dermatol 130:520-8. 2010
    ..We also detected significant epistatic interactions between SLC45A2 and OCA2 alleles, and MC1R and ASIP alleles. Overall, these measured variants account for 12% of the familial risk of CMM in our population...
  15. pmc A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color
    Richard A Sturm
    Institute for Molecular Bioscience, University of Queensland, Brisbane QLD 4072, Australia
    Am J Hum Genet 82:424-31. 2008
    ....
  16. ncbi request reprint Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles
    Kimberley A Beaumont
    Institute for Molecular Bioscience, University of Queensland, Bristane, Australia
    Hum Mol Genet 16:2249-60. 2007
    ..These findings show the first direct correlations between variant MC1R biochemical properties and pigmentation phenotype...
  17. pmc A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation
    David L Duffy
    Queensland Institute of Medical Research, Brisbane, Australia
    Am J Hum Genet 80:241-52. 2007
    ....
  18. doi request reprint Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2
    Sri N Shekar
    Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    J Invest Dermatol 128:2807-14. 2008
    ..03 after correction for multiple testing, respectively). These two SNPs explain 1.54 and 0.85% of variation in the A650t index, respectively...
  19. ncbi request reprint Melanocytes expressing MC1R polymorphisms associated with red hair color have altered MSH-ligand activated pigmentary responses in coculture with keratinocytes
    Donald W Roberts
    Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia
    J Cell Physiol 215:344-55. 2008
    ....
  20. ncbi request reprint Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk
    Kimberley A Beaumont
    Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland 4072, Australia
    Hum Mol Genet 14:2145-54. 2005
    ....
  21. doi request reprint Melanocortin-1 receptor-mediated signalling pathways activated by NDP-MSH and HBD3 ligands
    Kimberley A Beaumont
    Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia
    Pigment Cell Melanoma Res 25:370-4. 2012
    ..We suggest that β-defensin 3 may be a novel melanocortin-1 receptor agonist involved in regulating melanocyte responses in humans...
  22. ncbi request reprint Osteonectin downregulates E-cadherin, induces osteopontin and focal adhesion kinase activity stimulating an invasive melanoma phenotype
    Darren J Smit
    Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD, Australia
    Int J Cancer 121:2653-60. 2007
    ..These results indicate a central role for Osteonectin in the regulation of gene expression changes driving the progression of melanoma toward metastasis...
  23. ncbi request reprint Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitro
    Anthony L Cook
    Melanogenix Group, Division of Molecular Genetics and Development, Institute for Molecular Bioscience, University of Queensland, Brisbane QLD 4072, Australia
    Exp Cell Res 308:222-35. 2005
    ..Our results suggest that a complex network of transcription factor interactions requiring proper temporal coordination is necessary for acquisition and maintenance of the melanocytic phenotype...
  24. ncbi request reprint Human melanocytes expressing MC1R variant alleles show impaired activation of multiple signaling pathways
    Richard A Newton
    Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia
    Peptides 28:2387-96. 2007
    ..This synergism was impaired in melanocytes expressing RHC variants of MC1R which may be relevant for the poor tanning ability associated with individuals possessing these alleles...
  25. ncbi request reprint Interactive effects of MC1R and OCA2 on melanoma risk phenotypes
    David L Duffy
    Queensland Insititute of Medical Research, Brisbane, Australia
    Hum Mol Genet 13:447-61. 2004
    ..Amongst individuals with a R/R genotype (but not R/r), those who also had brown eyes had a mole count twice that of those with blue eyes. This suggests that other OCA2 polymorphisms influence mole count and remain to be described...
  26. doi request reprint Melanoma cell invasiveness is regulated by miR-211 suppression of the BRN2 transcription factor
    Glen M Boyle
    Drug Discovery Group, Division of Cancer and Cell Biology, Queensland Institute of Medical Research, Brisbane, QLD, Australia
    Pigment Cell Melanoma Res 24:525-37. 2011
    ..We propose a model for the apparent non-overlapping expression levels of BRN2 and MITF in melanoma, mediated by miR-211 expression...
  27. doi request reprint Spectrophotometric methods for quantifying pigmentation in human hair-influence of MC1R genotype and environment
    Sri N Shekar
    Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, QLD, Australia
    Photochem Photobiol 84:719-26. 2008
    ..Our results show that spectrophotometric measures approximating variation in eumelanin and pheomelanin may be considered as an alternative to chemical methods in larger epidemiological studies...
  28. doi request reprint MC1R variant allele effects on UVR-induced phosphorylation of p38, p53, and DDB2 repair protein responses in melanocytic cells in culture
    Shu Shyan Wong
    Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia
    J Invest Dermatol 132:1452-61. 2012
    ..We also found that MC1R wild-type strains regulate DDB2 protein levels through p38, but MC1R R/R variant melanocytes do not. This work confirms the important functional role that the MC1R receptor plays in UVR stress-induced DNA repair...
  29. doi request reprint Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community
    Helene C Johanson
    Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia
    J Hum Genet 55:103-11. 2010
    ..We hypothesize that this mutation may be Polynesian specific and that it originated from a common founder...
  30. doi request reprint Red hair is the null phenotype of MC1R
    Kimberley A Beaumont
    Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia
    Hum Mutat 29:E88-94. 2008
    ..We report here the first case of a homozygous MC1R null individual, phenotypic analysis indicates that red hair and fair skin is found in the absence of MC1R function...
  31. doi request reprint Melanocortin-1 receptor signaling markedly induces the expression of the NR4A nuclear receptor subgroup in melanocytic cells
    Aaron G Smith
    Division of Molecular Genetics and Development, Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland 4072, Australia
    J Biol Chem 283:12564-70. 2008
    ..These data identify the NR4A receptor family as potential mediators of an MC1R-coordinated DNA damage response to UV exposure in melanocytic cells...
  32. doi request reprint PPARgamma agonists attenuate proliferation and modulate Wnt/beta-catenin signalling in melanoma cells
    Aaron G Smith
    The University of Queensland, Institute for Molecular Bioscience, QLD 4072, Australia
    Int J Biochem Cell Biol 41:844-52. 2009
    ..Moreover, our data indicate that PPARgamma modulates Wnt/beta-catenin mediated signalling in melanoma cells in an agonist dependent manner...
  33. pmc Characterization of the Melanoma miRNAome by Deep Sequencing
    Mitchell S Stark
    Oncogenomics Laboratory, Queensland Institute of Medical Research, Herston, Brisbane, Queensland, Australia
    PLoS ONE 5:e9685. 2010
    ..We therefore undertook a comprehensive analysis of the miRNAome in a diverse range of pigment cells including: melanoblasts, melanocytes, congenital nevocytes, acral, mucosal, cutaneous and uveal melanoma cells...
  34. ncbi request reprint Quantitative analysis of MC1R gene expression in human skin cell cultures
    Donald W Roberts
    Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia
    Pigment Cell Res 19:76-89. 2006
    ....
  35. doi request reprint Regulation of NR4A nuclear receptor expression by oncogenic BRAF in melanoma cells
    Aaron G Smith
    Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia
    Pigment Cell Melanoma Res 24:551-63. 2011
    ..Taken together, these data suggest that dysregulation of NR4A nuclear receptors expression and function by the MAPK pathway may contribute to melanoma tumourigenicity...
  36. pmc GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development
    Mats Larsson
    Queensland Institute of Medical Research, Brisbane, Australia
    Am J Hum Genet 89:334-43. 2011
    ..These findings suggest that genes involved in normal neuronal pattern development may also influence tissue structures in the human iris...
  37. ncbi request reprint Post-transcriptional regulation of melanin biosynthetic enzymes by cAMP and resveratrol in human melanocytes
    Richard A Newton
    Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia
    J Invest Dermatol 127:2216-27. 2007
    ....
  38. pmc Melanocortin MC₁ receptor in human genetics and model systems
    Kimberley A Beaumont
    Institute for Molecular Bioscience, The University of Queensland, Brisbane QLD 4072, Australia
    Eur J Pharmacol 660:103-10. 2011
    ....
  39. doi request reprint The melanocortin-1 receptor gene polymorphism and association with human skin cancer
    Kimberley A Beaumont
    Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia
    Prog Mol Biol Transl Sci 88:85-153. 2009
    ..Notably, MC1R activation has been linked to DNA repair and may also contribute to the regulation of immune responses...
  40. ncbi request reprint Human melanoblasts in culture: expression of BRN2 and synergistic regulation by fibroblast growth factor-2, stem cell factor, and endothelin-3
    Anthony L Cook
    The Institute for Molecular Bioscience, Center for Functional and Applied Genomics, The University of Queensland, Brisbane, Australia
    J Invest Dermatol 121:1150-9. 2003
    ..These finding implicate BRN2 as an early marker of melanoblasts that may contribute to the hierarchy of melanocytic gene control...
  41. doi request reprint The recycling endosome protein Rab17 regulates melanocytic filopodia formation and melanosome trafficking
    Kimberley A Beaumont
    Institute for Molecular Bioscience, The University of Queensland, Brisbane 4072 QLD, Australia
    Traffic 12:627-43. 2011
    ..Our findings reveal new functions for RE and Rab17 in pigmentation through a distal step in the process of melanosome release via filopodia...
  42. ncbi request reprint Activation of the cAMP pathway by variant human MC1R alleles expressed in HEK and in melanoma cells
    Richard A Newton
    Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia
    Peptides 26:1818-24. 2005
    ..The common RHC alleles, Arg151Cys, Arg160Trp and Asp294His, are neither complete loss-of-function receptors nor are they functionally equivalent...
  43. ncbi request reprint Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma
    N F Box
    Center for Functional and Applied Genomics, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia
    J Invest Dermatol 116:224-9. 2001
    ....
  44. ncbi request reprint Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family
    R A Sturm
    Centre for Molecular and Cellular Biology, University of Queensland, Australia
    Genomics 29:24-34. 1995
    ..The evidence also suggests that at least some of the introns within the TYR, TYRP1, and TYRP2 coding regions were gained after duplication and that intron slippage is unlikely to have occurred...
  45. doi request reprint POU domain transcription factors: BRN2 as a regulator of melanocytic growth and tumourigenesis
    Anthony L Cook
    Melanogenix Group, Division of Molecular Genetics and Development, Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia
    Pigment Cell Melanoma Res 21:611-26. 2008
    ..Recent studies have shown BRN2 to be responsive to MAPK pathway activation and to modulate the levels of MITF so as to suppress the differentiated melanocytic phenotype and to enhance tumour metastasis...
  46. ncbi request reprint Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair
    N F Box
    Centre for Molecular and Cellular Biology, University of Queensland, Brisbane, Australia
    Hum Mol Genet 6:1891-7. 1997
    ..Rather, it is likely that additional modifier genes exist, making variance in the MSHR gene necessary but not always sufficient, for red hair production...
  47. ncbi request reprint A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA
    J Voisey
    CRC for Diagnostic Technologies, Queensland University of Technology, Brisbane, Australia
    Pigment Cell Res 19:226-31. 2006
    ..05). This study suggests that the 3'-UTR polymorphism results in decreased levels of ASIP and therefore less pheomelanin production...
  48. ncbi request reprint A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q
    Gu Zhu
    Queensland Institute of Medical Research, Brisbane, Australia
    Twin Res 7:197-210. 2004
    ..We conclude that most variation in eye color in Europeans is due to polymorphism in OCA2 but that there may be modifiers at several other loci...
  49. doi request reprint Effect of MC1R variant allele status on MSH-ligand induction of dopachrome tautomerase in melanocytes co-cultured with keratinocytes
    Stephen A Ainger
    Institute for Molecular Bioscience, Melanogenix Group, The University of Queensland, Brisbane, QLD, Australia Queensland Institute of Medical Research, Brisbane, QLD, Australia
    Exp Dermatol 20:681-4. 2011
    ..These responses are consistent with the dominant negative effect of these alleles on the MC1R WT allele that has previously been demonstrated genetically and biochemically...
  50. pmc A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers
    Puya Gharahkhani
    School of Veterinary Science, The University of Queensland, Gatton, Queensland, Australia
    PLoS ONE 6:e22455. 2011
    ..Thus, BTPKD is associated with a missense mutation in Pkd1, and the application of this mutation specific assay could reduce disease transmission by allowing diagnosis of disease in young animals prior to breeding...
  51. doi request reprint DNA elution from buccal cells stored on Whatman FTA Classic Cards using a modified methanol fixation method
    Helene C Johanson
    Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia
    Biotechniques 46:309-11. 2009
    ..This optimized protocol therefore extends the usefulness and cost effectiveness of each buccal swab sample collected, when used for nucleic acid PCR and genotyping...
  52. ncbi request reprint Human pigmentation genes and their response to solar UV radiation
    R A Sturm
    Centre for Molecular and Cellular Biology, The University of Queensland, Brisbane, Australia
    Mutat Res 422:69-76. 1998
    ..The combination of DNA damage, the formation of diacylglycerol, and the action of the melanocyte stimulating hormone receptor are all likely to be involved in UV-induced tanning...
  53. pmc MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations
    N F Box
    Centre for Functional and Applied Genomics, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4029, Australia
    Am J Hum Genet 69:765-73. 2001
    ....
  54. ncbi request reprint The human melanocortin-1 receptor locus: analysis of transcription unit, locus polymorphism and haplotype evolution
    A G Smith
    Centre for Functional and Applied Genomics, Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD 4072, Australia
    Gene 281:81-94. 2001
    ....
  55. ncbi request reprint Human pigmentation genetics: the difference is only skin deep
    R A Sturm
    Centre for Molecular and Cellular Biology, University of Queensland, Brisbane, Australia
    Bioessays 20:712-21. 1998
    ....
  56. pmc The NR4A2 Nuclear Receptor Is Recruited to Novel Nuclear Foci in Response to UV Irradiation and Participates in Nucleotide Excision Repair
    Kasturee Jagirdar
    Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia
    PLoS ONE 8:e78075. 2013
    ..Taken together these data uncover a novel role for the NR4A nuclear receptors as direct facilitators of nucleotide excision repair. ..
  57. doi request reprint Multiple genes and locus interactions in susceptibility to vitiligo
    Aaron G Smith
    Melanogenix Group, Division of Molecular Genetics and Development, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia
    J Invest Dermatol 130:643-5. 2010
    ..Investigation of the genetic interaction among these loci (and with a previously identified susceptibility gene, NLRP1, on chromosome 17) as risk factors for vitiligo demonstrates the complex nature of this disease...
  58. ncbi request reprint Osteopontin in melanocytic lesions--a first step towards invasion?
    Richard A Sturm
    Melanogenix Group, Division of Molecular Genetics and Development, Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia
    J Invest Dermatol 124:xiv-xv. 2005
  59. ncbi request reprint Dinucleotide repeat polymorphism at the human TYRP1 locus
    N F Box
    Centre for Molecular Biology and Biotechnology, University of Queensland, Brisbane, Australia
    Hum Mol Genet 3:2270. 1994
  60. ncbi request reprint Assignment of the tyrosinase-related protein-2 gene (TYRP2) to human chromosome 13q31-q32 by fluorescence in situ hybridization: extended synteny with mouse chromosome 14
    R A Sturm
    Centre for Molecular Biology and Biotechnology, University of Queensland, Brisbane, Australia
    Genomics 21:293-6. 1994
  61. ncbi request reprint Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1
    N F Box
    Centre for Molecular and Cellular Biology, University of Queensland, Brisbane, Australia
    Mamm Genome 9:50-3. 1998
    ..Analysis of the TYRP1 gene in 100 Caucasian individuals of varying hair color has found no amino acid sequence variation nor revealed any hemizygous mutant allele in the hypopigmented phenotype of two 9p- syndrome patients...
  62. doi request reprint Phenotypic Characterization of Nevus and Tumor Patterns in MITF E318K Mutation Carrier Melanoma Patients
    Richard A Sturm
    Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia
    J Invest Dermatol 134:141-9. 2014
    ....
  63. ncbi request reprint Proneural and proneuroendocrine transcription factor expression in cutaneous mechanoreceptor (Merkel) cells and Merkel cell carcinoma
    J Helen Leonard
    Queensland Radium Institute Research Unit, Queensland Institute of Medical Research, Herston, Brisbane, Queensland, Australia
    Int J Cancer 101:103-10. 2002
    ....
  64. ncbi request reprint The human OTF1 locus which overlaps the CD3Z gene is located at 1q22-->q23
    R A Sturm
    Centre for Molecular Biology and Biotechnology, University of Queensland, Brisbane, Australia
    Cytogenet Cell Genet 68:231-2. 1995
    ..We report here the regional localization of OTF1 to 1q22-->q23 by fluorescence in situ hybridization. The physical linkage of the CD3Z gene to the OTF1 transcription unit also refines the location of the CD3Z locus to 1q22-->q23...
  65. ncbi request reprint Sequence of the human dopachrome tautomerase-encoding TRP-2 cDNA
    J L Cassady
    Centre for Molecular Biology and Biotechnology, University of Queensland, Brisbane, Australia
    Gene 143:295-8. 1994
    ..Northern blot analysis reveals that TRP-2 is expressed at high levels in human melanoma cells...
  66. ncbi request reprint Identification of a marsupial OTF1 gene: cross-species STS analysis and in situ cross-hybridization to Macropus eugenii chromosomes 3/4 and 5
    R A Sturm
    Centre for Molecular Biology and Biotechnology, University of Queensland, Brisbane
    Cytogenet Cell Genet 65:272-5. 1994
    ..eugenii chromosomes 3/4 and 5 by in situ hybridization. These regions are likely to represent cross-reaction with the homologues of human OTF1 and closely related OTF2 genes...
  67. ncbi request reprint Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation
    Mark J Eliason
    Department of Dermatology, Health Sciences Center, University of Utah, Salt Lake City, UT 84112 5550, USA
    Arch Dermatol 143:1409-12. 2007
    ..We describe a patient from a familial melanoma pedigree with 7 primary melanomas on the right side of her body, the first occurring 5 years after exposure to atmospheric nuclear bomb testing in the 1950s...
  68. ncbi request reprint Diversity of pigmentation in cultured human melanocytes is due to differences in the type as well as quantity of melanin
    Kazumasa Wakamatsu
    Department of Chemistry, Fujita Health University School of Health Sciences, Toyoake, Aichi, Japan
    Pigment Cell Res 19:154-62. 2006
    ....
  69. ncbi request reprint MC1R expression in skin: is it confined to melanocytes?
    Donald W Roberts
    J Invest Dermatol 127:2472-3. 2007