skin pigmentation

Summary

Summary: Coloration of the skin.

Top Publications

  1. pmc Color and genomic ancestry in Brazilians
    Flavia C Parra
    Departamento de Bioquimica e Imunologia, Universidade Federal de Minas Gerais, 31270 901 Belo Horizonte, Brazil
    Proc Natl Acad Sci U S A 100:177-82. 2003
  2. ncbi SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans
    Rebecca L Lamason
    Jake Gittlen Cancer Research Foundation, Department of Pathology, The Pennsylvania State University College of Medicine, Hershey, PA 17033, USA
    Science 310:1782-6. 2005
  3. ncbi Melanocyte biology and skin pigmentation
    Jennifer Y Lin
    Harvard Combined Program in Dermatology, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02115, USA
    Nature 445:843-50. 2007
  4. ncbi Melanin pigmentation in mammalian skin and its hormonal regulation
    Andrzej Slominski
    Dept of Pathology, Suite 599, University of Tennessee Health Science Center, 930 Madison Avenue, Memphis, TN 38163, USA
    Physiol Rev 84:1155-228. 2004
  5. ncbi The evolution of human skin coloration
    N G Jablonski
    Department of Anthropology, California Academy of Sciences, Golden Gate Park, San Francisco, CA 94118 4599, USA
    J Hum Evol 39:57-106. 2000
  6. pmc cis-Regulatory changes in Kit ligand expression and parallel evolution of pigmentation in sticklebacks and humans
    Craig T Miller
    HHMI and Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
    Cell 131:1179-89. 2007
  7. pmc A genomewide association study of skin pigmentation in a South Asian population
    Renee P Stokowski
    Perlegen Sciences, Mountain View, CA 94043, USA
    Am J Hum Genet 81:1119-32. 2007
  8. ncbi Dickkopf 1 (DKK1) regulates skin pigmentation and thickness by affecting Wnt/beta-catenin signaling in keratinocytes
    Yuji Yamaguchi
    Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
    FASEB J 22:1009-20. 2008
  9. ncbi Skin pigmentation, biogeographical ancestry and admixture mapping
    Mark D Shriver
    Department of Anthropology, Penn State University, 409 Carpenter Bld, University Park, PA 16802, USA
    Hum Genet 112:387-99. 2003
  10. pmc Colloquium paper: human skin pigmentation as an adaptation to UV radiation
    Nina G Jablonski
    Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA
    Proc Natl Acad Sci U S A 107:8962-8. 2010

Detail Information

Publications255 found, 100 shown here

  1. pmc Color and genomic ancestry in Brazilians
    Flavia C Parra
    Departamento de Bioquimica e Imunologia, Universidade Federal de Minas Gerais, 31270 901 Belo Horizonte, Brazil
    Proc Natl Acad Sci U S A 100:177-82. 2003
    ..classified according to their Color (white, black, or intermediate) with a multivariate evaluation based on skin pigmentation in the medial part of the arm, hair color and texture, and the shape of the nose and lips...
  2. ncbi SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans
    Rebecca L Lamason
    Jake Gittlen Cancer Research Foundation, Department of Pathology, The Pennsylvania State University College of Medicine, Hershey, PA 17033, USA
    Science 310:1782-6. 2005
    ..fixed in European populations, is associated with a substantial reduction in regional heterozygosity, and correlates with lighter skin pigmentation in admixed populations, suggesting a key role for the SLC24A5 gene in human pigmentation.
  3. ncbi Melanocyte biology and skin pigmentation
    Jennifer Y Lin
    Harvard Combined Program in Dermatology, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02115, USA
    Nature 445:843-50. 2007
    ..Skin is the most common site of cancer in humans. Continued understanding of melanocyte contributions to skin biology will hopefully provide new opportunities for the prevention and treatment of skin diseases...
  4. ncbi Melanin pigmentation in mammalian skin and its hormonal regulation
    Andrzej Slominski
    Dept of Pathology, Suite 599, University of Tennessee Health Science Center, 930 Madison Avenue, Memphis, TN 38163, USA
    Physiol Rev 84:1155-228. 2004
    ..Indeed, the significance of melanogenesis extends beyond the mere assignment of a color trait...
  5. ncbi The evolution of human skin coloration
    N G Jablonski
    Department of Anthropology, California Academy of Sciences, Golden Gate Park, San Francisco, CA 94118 4599, USA
    J Hum Evol 39:57-106. 2000
    ..Skin coloration in humans is adaptive and labile. Skin pigmentation levels have changed more than once in human evolution...
  6. pmc cis-Regulatory changes in Kit ligand expression and parallel evolution of pigmentation in sticklebacks and humans
    Craig T Miller
    HHMI and Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
    Cell 131:1179-89. 2007
    ..These experiments suggest that regulatory changes in Kitlg contribute to natural variation in vertebrate pigmentation, and that similar genetic mechanisms may underlie rapid evolutionary change in fish and humans...
  7. pmc A genomewide association study of skin pigmentation in a South Asian population
    Renee P Stokowski
    Perlegen Sciences, Mountain View, CA 94043, USA
    Am J Hum Genet 81:1119-32. 2007
    ..single-nucleotide polymorphisms to systematically investigate the genetic factors influencing intrinsic skin pigmentation in a population of South Asian descent...
  8. ncbi Dickkopf 1 (DKK1) regulates skin pigmentation and thickness by affecting Wnt/beta-catenin signaling in keratinocytes
    Yuji Yamaguchi
    Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
    FASEB J 22:1009-20. 2008
    ....
  9. ncbi Skin pigmentation, biogeographical ancestry and admixture mapping
    Mark D Shriver
    Department of Anthropology, Penn State University, 409 Carpenter Bld, University Park, PA 16802, USA
    Hum Genet 112:387-99. 2003
    ..We present details of a panel of 34 AIMs and demonstrate how such studies can proceed, by using skin pigmentation as a model phenotype...
  10. pmc Colloquium paper: human skin pigmentation as an adaptation to UV radiation
    Nina G Jablonski
    Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA
    Proc Natl Acad Sci U S A 107:8962-8. 2010
    Human skin pigmentation is the product of two clines produced by natural selection to adjust levels of constitutive pigmentation to levels of UV radiation (UVR)...
  11. ncbi Genetic evidence for the convergent evolution of light skin in Europeans and East Asians
    Heather L Norton
    Department of Anthropology, The Pennsylvania State University, PA, USA
    Mol Biol Evol 24:710-22. 2007
    Human skin pigmentation shows a strong positive correlation with ultraviolet radiation intensity, suggesting that variation in skin color is, at least partially, due to adaptation via natural selection...
  12. ncbi Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans
    P Valverde
    Department of Dermatology, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne, UK
    Nat Genet 11:328-30. 1995
    ..Our findings suggest that in humans, as in other mammals, the MC1R is a control point in the regulation of pigmentation phenotype and, more importantly, that variations in this protein are associated with a poor tanning response...
  13. ncbi The regulation of skin pigmentation
    Yuji Yamaguchi
    Laboratory of Cell Biology, NCI, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 282:27557-61. 2007
  14. ncbi Regulation of melanogenesis--controversies and new concepts
    Karin U Schallreuter
    Clinical and Experimental Dermatology Department of Biomedical Sciences, University of Bradford, Bradford, UK
    Exp Dermatol 17:395-404. 2008
    ..Finally, we propose a novel mechanism involving H2O2 in the regulation of tyrosinase via p53 through transcription of hepatocyte nuclear factor 1alpha which in turn can also affect the POMC response...
  15. pmc Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations
    Sophie I Candille
    Department of Genetics, Stanford University, Stanford, California, United States of America
    PLoS ONE 7:e48294. 2012
    ..The country of sampling explains approximately 35% of the variation in skin pigmentation, 31% of the variation in hair pigmentation, and 40% of the variation in eye pigmentation...
  16. pmc Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis
    Meg R Gerstenblith
    Genetic Epidemiology Branch Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
    Pigment Cell Melanoma Res 23:587-606. 2010
    ..As with any GWAS, the identified loci may not include the causal variants and may need confirmation by direct genome sequencing...
  17. ncbi Genetic determinants of hair, eye and skin pigmentation in Europeans
    Patrick Sulem
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 39:1443-52. 2007
    ..3 is associated with freckles. The fifth region provided refinements to a previously reported association in OCA2, and the sixth encompasses previously described variants in MC1R...
  18. ncbi Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation
    Justin Graf
    Cooperative Research Centre for Diagnostics, School of Life Sciences, Queensland University of Technology, Brisbane, Queensland, Australia
    Hum Mutat 25:278-84. 2005
    ..23 and 8.27, respectively. The OR for eye color is lower at 3.48 for the LeuLeu and 6.57 for LysLys genotypes. This is the first report of this highly significant association of MATP polymorphisms with normal human pigmentation variation...
  19. ncbi 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
    ..correlations between the biochemical signalling properties of the encoded receptor and the red-hair fair skin pigmentation phenotype...
  20. ncbi Understanding the evolution of human pigmentation: recent contributions from population genetics
    Jonathan L Rees
    Department of Dermatology, University of Edinburgh, Edinburgh, UK
    J Invest Dermatol 132:846-53. 2012
    ..Future larger studies are likely to provide more details of this process and may provide evidence for exactly which mechanistic pathways have mediated selection...
  21. ncbi Melanocyte stem cells: a melanocyte reservoir in hair follicles for hair and skin pigmentation
    Emi K Nishimura
    Department of Stem Cell Biology, Medical Research Institute, Tokyo Medical and Dental University, Chiyoda ku, Tokyo, Japan
    Pigment Cell Melanoma Res 24:401-10. 2011
    ..This review focuses on the identification of MelSCs and their characteristics and explains the importance of the MelSC population in the mechanisms of hair pigmentation, hair greying, and skin repigmentation...
  22. pmc Functional assessment of human coding mutations affecting skin pigmentation using zebrafish
    Zurab R Tsetskhladze
    Jake Gittlen Cancer Research Foundation, Penn State Hershey College of Medicine, Hershey, PA, USA
    PLoS ONE 7:e47398. 2012
    ..The developed approach may be extended to other model systems and may potentially contribute to our understanding the functional relationships between DNA sequence variation, human biology, and disease...
  23. pmc Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation
    Melissa Edwards
    Department of Anthropology, University of Toronto at Mississauga, Mississauga, Ontario, Canada
    PLoS Genet 6:e1000867. 2010
    ..the genetics of pigmentation in European populations, but very little is known about the genes involved in skin pigmentation variation in East Asian populations...
  24. ncbi Ethnic variation in tyrosinase and TYRP1 expression in photoexposed and photoprotected human skin
    Simon Alaluf
    Unilever Research, Colworth Laboratory, Sharnbrook, Bedford, UK
    Pigment Cell Res 16:35-42. 2003
    ..Moreover, the observed ethnic variation in TYRP1 protein expression suggests that TYRP1 may play a significant role in mediating ethnic differences in melanogenesis and constitutive skin pigmentation in vivo.
  25. ncbi Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka
    S Fukamachi
    Department of Integrated Biosciences, Graduate School of Frontier Sciences, University of Tokyo, Kashiwa no ha 5 1 5, Kashiwa shi, Chiba ken 277 0882, Japan
    Nat Genet 28:381-5. 2001
    ..Analysis of AIM1 orthologs should provide new insights into the regulation of melanogenesis in both teleosts and mammals...
  26. pmc Physiological factors that regulate skin pigmentation
    Yuji Yamaguchi
    Department of Geriatric and Environmental Dermatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan
    Biofactors 35:193-9. 2009
    ..either directly or indirectly, and we review current understanding of physiological factors that regulate skin pigmentation. We focus on melanosome biogenesis, transport and transfer, melanogenic regulators in melanocytes, and ..
  27. pmc The genetics of sun sensitivity in humans
    Jonathan L Rees
    Systems Group, Dermatology, University of Edinburgh, Edinburgh, United Kingdom
    Am J Hum Genet 75:739-51. 2004
    ..Thus, a single locus, identified within a Mendelian framework, can contribute significantly to human pigmentary variation...
  28. ncbi Global vitamin D levels in relation to age, gender, skin pigmentation and latitude: an ecologic meta-regression analysis
    T Hagenau
    Department of Endocrinology and Metabolism C, Aarhus Amtssygehus, Aarhus University Hospital, Aarhus, Denmark
    Osteoporos Int 20:133-40. 2009
    ..Serum 25(OH)D levels on average were 54 nmol/l, were higher in women than men, and higher in Caucasians than in non-Caucasians. There was no trend in serum 25(OH)D level with latitude. Vitamin D deficiency was widespread...
  29. ncbi Identifying genes underlying skin pigmentation differences among human populations
    Sean Myles
    Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany
    Hum Genet 120:613-21. 2007
    b>Skin pigmentation is a human phenotype that varies greatly among human populations and it has long been speculated that this variation is adaptive...
  30. ncbi The epidemiology of skin cancer
    Thomas L Diepgen
    Department of Clinical Social Medicine and Dermato Epidemiology, University Hospital Heidelberg, Bergheimer Str 58, 69115 Heidelberg, Germany
    Br J Dermatol 146:1-6. 2002
    ..According to recent population-based studies from Australia the incidence rate is over 2% for basal cell carcinoma in males and 1% for squamous cell carcinoma, and there are over 50 new cases of melanoma per 100 000...
  31. pmc Control of confounding of genetic associations in stratified populations
    Clive J Hoggart
    Epidemiology Unit, London School of Hygiene and Tropical Medicine, Umited Kingdom
    Am J Hum Genet 72:1492-1504. 2003
    ..which there is extreme confounding of trait-genotype associations because the trait under study (skin pigmentation) varies with admixture proportions...
  32. ncbi Sexual selection as a cause of human skin colour variation: Darwin's hypothesis revisited
    Kenichi Aoki
    Department of Biological Sciences, The University of Tokyo, Bunkyoku, Tokyo, Japan
    Ann Hum Biol 29:589-608. 2002
    ..Such a preference would generate sexual selection for light skin that counteracts natural selection for dark skin. The observed latitudinal gradient in skin colour may result from the balance between natural and sexual selection...
  33. ncbi Genomic regions associated with dermal hyperpigmentation, polydactyly and other morphological traits in the Silkie chicken
    Ben Dorshorst
    Department of Poultry Science, North Carolina State University, 134E Scott Hall, Campus Box 7608, NC 27695, USA
    J Hered 101:339-50. 2010
    ..Genomic regions in association with silkie feathering or hookless (h), feathered legs (Pti), vulture hock (V), rose comb (R), and duplex comb (D) were also identified...
  34. ncbi Vitamin D production after UVB exposure depends on baseline vitamin D and total cholesterol but not on skin pigmentation
    Morten K B Bogh
    Department of Dermatology, Copenhagen University Hospital, Bispebjerg, Copenhagen NV Vejle, Denmark
    J Invest Dermatol 130:546-53. 2010
    ..increases serum vitamin D level expressed as 25-hydroxyvitamin-D(3) (25(OH)D), but the influence of skin pigmentation, baseline 25(OH)D level, and total cholesterol has not been well characterized...
  35. ncbi The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans
    Carolina Bonilla
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, 494 Tzagournis Medical Research Facility, 420 W 12th Avenue, Columbus, OH 43210, USA
    Hum Genet 116:402-6. 2005
    ..Further study is needed to reveal how interactions between ASIP and several other genes, such as MC1R and P, predict human pigmentation...
  36. ncbi Distinctive distribution of AIM1 polymorphism among major human populations with different skin color
    Kazuhiro Nakayama
    Department of Biological Sciences, Graduate School of Science, University of Tokyo, Japan
    J Hum Genet 47:92-4. 2002
    ....
  37. pmc Vitamin D intake needed to maintain target serum 25-hydroxyvitamin D concentrations in participants with low sun exposure and dark skin pigmentation is substantially higher than current recommendations
    Laura M Hall
    Nutrition Department, University of California, Davis, CA, 95616, USA
    J Nutr 140:542-50. 2010
    ..To achieve 25(OH)D > or =75 nmol/L, we estimate that EA individuals with high sun exposure need 1300 iu/d vitamin D intake in the winter and AA individuals with low sun exposure need 2100-3100 iu/d year-round...
  38. ncbi The essential role of p53 in hyperpigmentation of the skin via regulation of paracrine melanogenic cytokine receptor signaling
    Daiki Murase
    Kao Biological Science Laboratories, Haga, Tochigi 321 3497, Japan
    J Biol Chem 284:4343-53. 2009
    ..Recently, the tumor suppressor protein p53 has been demonstrated to promote ultraviolet B-induced skin pigmentation by stimulating the transcription of a melanogenic cytokine, POMC (pro-opiomelanocortin), in keratinocytes...
  39. pmc Human skin pigmentation, migration and disease susceptibility
    Nina G Jablonski
    Department of Anthropology, The Pennsylvania State University, University Park, PA 16802, USA
    Philos Trans R Soc Lond B Biol Sci 367:785-92. 2012
    Human skin pigmentation evolved as a compromise between the conflicting physiological demands of protection against the deleterious effects of ultraviolet radiation (UVR) and photosynthesis of UVB-dependent vitamin D(3)...
  40. pmc Low wintertime vitamin D levels in a sample of healthy young adults of diverse ancestry living in the Toronto area: associations with vitamin D intake and skin pigmentation
    Agnes Gozdzik
    Department of Anthropology, University of Toronto at Mississauga, 3359 Mississauga Road North, Mississauga, Ontario L5L 1C6, Canada
    BMC Public Health 8:336. 2008
    ..The main goal of this study was to examine the vitamin D status and vitamin D intake of young Canadian adults of diverse ancestry during the winter months...
  41. 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
    ....
  42. ncbi Inhibition of UVA-mediated melanogenesis by ascorbic acid through modulation of antioxidant defense and nitric oxide system
    Uraiwan Panich
    Department of Pharmacology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
    Arch Pharm Res 34:811-20. 2011
    ..We report herein that AA can protect against UVA-dependent melanogenesis possibly through the improvement of antioxidant defense capacity and inhibition of NO production through down-regulation of eNOS and iNOS mRNA...
  43. pmc Skin color variation in Orang Asli tribes of Peninsular Malaysia
    Khai C Ang
    Department of Experimental Pathology and Jake Gittlen Cancer Research Foundation, Penn State College of Medicine, Hershey, Pennsylvania, United States of America
    PLoS ONE 7:e42752. 2012
    ..These results suggest that the Senoi are suitable for mapping East Asian skin color genes...
  44. pmc Temporal variations of skin pigmentation in C57BL/6 mice affect optical bioluminescence quantitation
    Allison Curtis
    Global Imaging Group, Novartis Institutes for BioMedical Research, Cambridge, MA 02139, USA
    Mol Imaging Biol 13:1114-23. 2011
    Depilation-induced skin pigmentation in C57Bl/6 mice is a known occurrence, and presents a unique problem for quantitative optical imaging of small animals, especially for bioluminescence...
  45. ncbi Expression of the tyrosinase-encoding gene in a colorless melanophore mutant of the medaka fish, Oryzias latipes
    H Inagaki
    Department of Biology, Faculty of Science, Nagoya University, Japan
    Gene 150:319-24. 1994
    ..In the b mutant, contrary to expectation, the mRNA was detected not only in eyes but also in amelanotic skin. Therefore, pigmentation of the skin controlled by b is not directly related to expression of the Tyr gene...
  46. pmc Biphasic expression of two paracrine melanogenic cytokines, stem cell factor and endothelin-1, in ultraviolet B-induced human melanogenesis
    Akira Hachiya
    Kao Biological Science Laboratories, Ichikai machi Haga, Tochigi 321 3497 Japan
    Am J Pathol 165:2099-109. 2004
    ....
  47. pmc Regulation of human skin pigmentation in situ by repetitive UV exposure: molecular characterization of responses to UVA and/or UVB
    Wonseon Choi
    Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    J Invest Dermatol 130:1685-96. 2010
    ..Paracrine factors expressed by keratinocytes and/or fibroblasts that affect skin pigmentation might be regulated differently by UV, as might their corresponding receptors expressed on melanocytes...
  48. ncbi Prediction of eye and skin color in diverse populations using seven SNPs
    Olga Spichenok
    Office of Chief Medical Examiner of the City of New York, Department of Forensic Biology, 421 East 26th Street, New York, NY, USA
    Forensic Sci Int Genet 5:472-8. 2011
    ..However, the call-rate to determine the skin coloration varied between populations, demonstrating its complexity. Overall, these results prove the importance of these seven SNPs for potential forensic tests...
  49. ncbi 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
    ....
  50. ncbi Protection against UVR involves MC1R-mediated non-pigmentary and pigmentary mechanisms in vivo
    Samantha Robinson
    Dermatopharmacology, University of Southampton, Southampton, Hampshire, UK
    J Invest Dermatol 130:1904-13. 2010
    ..The results indicate that MC1R protects by a combination of pigmentary and non-pigmentary effects in vivo and that when MC1R function is compromised the melanin type in skin is still protective against UVR...
  51. ncbi Genetic admixture, self-reported ethnicity, self-estimated admixture, and skin pigmentation among Hispanics and Native Americans
    Yann C Klimentidis
    Department of Anthropology, University of New Mexico, Albuquerque, NM 87130, USA
    Am J Phys Anthropol 138:375-83. 2009
    ..study examines the relationships between self-identified ethnicity, self-estimated admixture proportions, skin pigmentation, and genetic marker estimated admixture proportions...
  52. pmc A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation
    Jiali Han
    Channing Laboratory, Department of Medicine, Brigham and Women s Hospital, and Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS Genet 4:e1000074. 2008
    ..The signals detected in a region around the MC1R gene were explained by MC1R red hair color alleles. Our results suggest that the IRF4 and SLC24A4 loci are associated with human hair color and skin pigmentation.
  53. pmc Relationship between sun exposure and melanoma risk for tumours in different body sites in a large case-control study in a temperate climate
    Julia A Newton-Bishop
    Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK
    Eur J Cancer 47:732-41. 2011
    ..A melanoma case-control study was conducted to elucidate the complex relationship between sun exposure and risk...
  54. ncbi Genetics of pigmentation in skin cancer--a review
    Dominique Scherer
    Division of Molecular Genetic Epidemiology, German Cancer Research Centre DKFZ, Im Neuenheimer Feld 580, D 69120 Heidelberg, Germany
    Mutat Res 705:141-53. 2010
    b>Skin pigmentation is one of the most overt human physical traits with consequences on susceptibility to skin cancer. The variations in skin pigmentation are dependent on geographic location and population ethnicity...
  55. pmc Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians
    Hongmei Nan
    Department of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA
    Int J Cancer 125:909-17. 2009
    ..Our study provides evidence for the contribution of pigmentation genetic variants, in addition to the MC1R variants, to variation in human pigmentary phenotypes and possibly the development of skin cancer...
  56. ncbi 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
    ....
  57. ncbi 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...
  58. ncbi Origin of adult-type pigment cells forming the asymmetric pigment pattern, in Japanese flounder (Paralichthys olivaceus)
    Toshiyuki Yamada
    National Research Institute of Aquaculture, Fisheries Research Agency, Mie, Japan
    Dev Dyn 239:3147-62. 2010
    ..We conclude that adult-type pigment cells that form the asymmetric pigment pattern are continuously derived from the dorsal and ventral margins of the flank during larval development...
  59. ncbi Formation of the adult pigment pattern in zebrafish requires leopard and obelix dependent cell interactions
    Florian Maderspacher
    Max Planck Institut fur Entwicklungsbiologie, Abt III Genetik, Spemannstrasse 35, 72076 Tubingen, Germany
    Development 130:3447-57. 2003
    ..These findings support a view in which cell-cell interactions among pigment cells are the major driving force for adult pigment pattern formation...
  60. pmc Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure
    E Matichard
    J Med Genet 41:e13. 2004
  61. ncbi Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype
    Wojciech Branicki
    Institute of Forensic Research, Section of Forensic Genetics, Westerplatte 9, Krakow, Poland
    Ann Hum Genet 73:160-70. 2009
    ..Finally, using various approaches we were able to show that there is an interaction between MC1R and HERC2 in determination of skin and hair colour in the studied population sample...
  62. pmc A polymorphism in the agouti signaling protein gene is associated with human pigmentation
    Peter A Kanetsky
    Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104 6021, USA
    Am J Hum Genet 70:770-5. 2002
    ..This is the first report of an association of ASIP with specific human pigmentation characteristics. It remains to be investigated whether the interaction of MC1R and ASIP can enhance prediction of human pigmentation and melanoma risk...
  63. ncbi Inhibition of PAX3 by TGF-beta modulates melanocyte viability
    Guang Yang
    Department of Medical Oncology, Dana Farber Cancer Institute, Children s Hospital Boston, Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA
    Mol Cell 32:554-63. 2008
    ....
  64. ncbi MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population
    Maria Teresa Landi
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892 7236, USA
    J Natl Cancer Inst 97:998-1007. 2005
    ..We examined MC1R and ASIP genotypes in relation to phenotypic characteristics, sporadic and familial melanoma risk, and melanoma thickness as an indicator of disease progression in a Mediterranean population...
  65. ncbi Comparison of narrow-band reflectance spectroscopy and tristimulus colorimetry for measurements of skin and hair color in persons of different biological ancestry
    M D Shriver
    Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania 16802, USA
    Am J Phys Anthropol 112:17-27. 2000
    ....
  66. ncbi Effects of above average summer sun exposure on serum 25-hydroxyvitamin D and calcium absorption
    M Janet Barger-Lux
    Osteoporosis Research Center, Creighton University, 601 North 30th Street, Omaha, Nebraska 68131, USA
    J Clin Endocrinol Metab 87:4952-6. 2002
    ..Despite this input, at the late winter visit, 25(OH)D was less than 50 nmol/liter in 3 subjects and less than 75 nmol/liter in 15 subjects...
  67. ncbi Skin ageing: a comparison between Chinese and European populations. A pilot study
    S Nouveau-Richard
    L Oreal Recherche, Centre Charles Zviak, 90 rue du General Roguet, 92583 Clichy, France
    J Dermatol Sci 40:187-93. 2005
    ..Although limited data are available, it is commonly considered that Europeans and Asians have different skin ageing features...
  68. ncbi Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians
    Kazuhiro Nakayama
    Department of Biological Sciences, Graduate School of Science, The University of Tokyo, 7 3 1 Hongo, Bunkyo ku, 1130033, Tokyo, Japan
    Hum Genet 119:322-30. 2006
    ....
  69. ncbi Proopiomelanocortin (POMC): the cutaneous roles of its melanocortin products and receptors
    G W M Millington
    Department of Dermatology, Norfolk and Norwich University Hospital, Colney Lane, Norwich, UK
    Clin Exp Dermatol 31:407-12. 2006
    ..However, they do not necessarily affect skin colour or function in humans, and further studies are needed to clarify these observations...
  70. ncbi The paracrine role of stem cell factor/c-kit signaling in the activation of human melanocytes in ultraviolet-B-induced pigmentation
    A Hachiya
    Kao Biological Science Laboratories, Haga, Tochigi, Japan
    J Invest Dermatol 116:578-86. 2001
    ..These findings indicate that the stem cell factor/c-kit signaling is critically involved in the biologic mechanism of ultraviolet-B-induced pigmentation...
  71. pmc Shining light on skin pigmentation: the darker and the brighter side of effects of UV radiation
    Nityanand Maddodi
    Department of Dermatology, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA
    Photochem Photobiol 88:1075-82. 2012
    ..This term does not generally include skin pigmentation. However, skin pigmentation, which is the result of melanin produced in melanocytes residing in the basal ..
  72. pmc Genomic ancestry, self-reported "color" and quantitative measures of skin pigmentation in Brazilian admixed siblings
    Tailce K M Leite
    Programa de Pós Graduação em Educação Física, Universidade Catolica de Brasilia, Brasilia, Distrito Federal, Brazil
    PLoS ONE 6:e27162. 2011
    ..We report the results of a study in a group of Brazilian siblings in which we measured skin pigmentation using a reflectometer, and estimated genomic ancestry using 21 Ancestry Informative Markers (AIMs)...
  73. ncbi Mutations at the W locus affect survival of neural crest-derived melanocytes in the mouse
    J Cable
    MRC Institute of Hearing Research, University Park, Nottingham, UK
    Mech Dev 50:139-50. 1995
    ..These results suggest that mutations of the c-kit receptor tyrosine kinase encoded at the W locus do not alter early migration or differentiation of melanoblasts but severely affect melanoblasts survival...
  74. pmc Oxygenated-blood colour change thresholds for perceived facial redness, health, and attractiveness
    Daniel E Re
    School of Psychology, University of St Andrews, St Andrews, United Kingdom
    PLoS ONE 6:e17859. 2011
    ....
  75. pmc Barrier requirements as the evolutionary "driver" of epidermal pigmentation in humans
    Peter M Elias
    Dermatology Services, Veterans Affairs Medical Center, San Francisco, California, USA
    Am J Hum Biol 22:526-37. 2010
    ..We summarize evidence here that epidermal interfollicular pigmentation in early hominids likely evolved in response to stress to the permeability barrier...
  76. pmc Skin cancers in albinos in a teaching Hospital in eastern Nigeria - presentation and challenges of care
    Kingsley O Opara
    Department of Surgery, Imo State University Teaching Hospital, Orlu, Imo State, Nigeria
    World J Surg Oncol 8:73. 2010
    Albinism is a genetic disorder characterized by lack of skin pigmentation. It has a worldwide distribution but is commoner in areas close to the equator like Nigeria...
  77. pmc Predicting phenotype from genotype: normal pigmentation
    Robert K Valenzuela
    Department of Pediatrics, College of Medicine, University of Arizona, Tucson, AZ 85724, USA
    J Forensic Sci 55:315-22. 2010
    ..Thus, these models may be of predictive value to determine an individual's pigmentation type from a forensic sample, independent of ethnic origin...
  78. ncbi Seven novel KIT mutations in horses with white coat colour phenotypes
    B Haase
    Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001 Bern, Switzerland
    Anim Genet 40:623-9. 2009
    ..2684+1G>A). White phenotypes in horses show a remarkable allelic heterogeneity. In fact, a higher number of alleles are molecularly characterized at the equine KIT gene than for any other known gene in livestock species...
  79. ncbi The impact of epidermal melanin on objective measurements of human skin colour
    Simon Alaluf
    Unilever Research, Colworth Laboratory, Sharnbrook, Bedford, UK
    Pigment Cell Res 15:119-26. 2002
    ....
  80. ncbi Effects of skin pigmentation on pulse oximeter accuracy at low saturation
    Philip E Bickler
    Department of Anesthesia and Perioperative Care, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143, USA
    Anesthesiology 102:715-9. 2005
    It is uncertain whether skin pigmentation affects pulse oximeter accuracy at low HbO2 saturation.
  81. ncbi Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2
    Mikiko Soejima
    Department of Forensic Medicine and Human Genetics, Kurume University School of Medicine, Kurume, 830 0011, Japan
    Int J Legal Med 121:36-9. 2007
    ..Our data confirm the earlier results and furthermore demonstrate that the SLC45A2 allele is a more specific AIM than the SLC24A5 allele because the former clearly distinguishes the Sri Lankans from the Europeans...
  82. ncbi Human skin-color sexual dimorphism: a test of the sexual selection hypothesis
    Lorena Madrigal
    Department of Anthropology, University of South Florida, Tampa, Florida 33620, USA
    Am J Phys Anthropol 132:470-82. 2007
    ..Our analysis failed to support the prediction of a positive correlation between increasing distance from the equator and increased sexual dimorphism. We found no evidence in support of the sexual selection hypothesis...
  83. ncbi Non-invasive measurements of skin pigmentation in situ
    Georgios N Stamatas
    Methods and Models Development, Johnson and Johnson Consumer Products, Skillman, NJ, USA
    Pigment Cell Res 17:618-26. 2004
    Objective in situ measurements of skin pigmentation are needed for accurate documentation of pigmentation disorders, in studies of constitutive and induced skin pigmentation, for testing of the efficacy of pro-pigmentation or de-..
  84. ncbi Evolutionary biology: geography and skin colour
    Jared Diamond
    Nature 435:283-4. 2005
  85. ncbi Verification of eye and skin color predictors in various populations
    Amanda Pneuman
    Department of Forensic Biology, Office of Chief Medical Examiner of the City of New York, 421 E 26th Street, New York, NY, USA
    Leg Med (Tokyo) 14:78-83. 2012
    ..Our investigation deepens the insight for these predictors and adds new information...
  86. pmc You are what you eat: within-subject increases in fruit and vegetable consumption confer beneficial skin-color changes
    Ross D Whitehead
    School of Psychology, Perception Lab, University of St Andrews, St Andrews, Fife, Scotland
    PLoS ONE 7:e32988. 2012
    ..This carotenoid-based coloration contributes beneficially to the appearance of health in humans and is held to be a sexually selected cue of condition in other species...
  87. ncbi Changing clothes easily: connexin41.8 regulates skin pattern variation
    Masakatsu Watanabe
    Graduate School of Frontier Biosciences, Osaka University, Osaka, Japan
    Pigment Cell Melanoma Res 25:326-30. 2012
    ..Our results demonstrate that the pigment cells in animal skin have the potential and plasticity to establish various patterns and that the reaction-diffusion principle can predict skin patterns of animals...
  88. ncbi Stem cell factor rescues tyrosinase expression and pigmentation in discreet anatomic locations in albino mice
    Jillian C Vanover
    Department of Pediatrics, University of Kentucky College of Medicine, The Markey Cancer Center, The Graduate Center for Toxicology, Lexington, KY, USA
    Pigment Cell Melanoma Res 22:827-38. 2009
    ..These findings suggest that c-kit signaling can overcome the c2j Tyr mutation in the ears and tails of aging animals and that UV resistance depends on accumulation of epidermal eumelanin...
  89. pmc A global view of the OCA2-HERC2 region and pigmentation
    Michael P Donnelly
    Department of Genetics, School of Medicine, Yale University, New Haven, CT 06520, USA
    Hum Genet 131:683-96. 2012
    ..in Ann Hum Genet 73:160-170, 2009). In addition, a missense mutation (rs1800414) is a candidate for light skin pigmentation in East Asia (Yuasa et al. in Biochem Genet 45:535-542, 2007; Anno et al. in Int J Biol Sci 4, 2008)...
  90. ncbi The genetic determination of skin pigmentation: KITLG and the KITLG/c-Kit pathway as key players in the onset of human familial pigmentary diseases
    Mauro Picardo
    Cutaneous Physiopathology and Metabolomic Center, San Gallicano Dermatologic Institute, IRCCS, Rome, Italy
    J Invest Dermatol 131:1182-5. 2011
    ..Furthermore, Amyere et al. suggest that different pigmentary diseases can result from the same mutation or different mutations in the same gene, and they offer hope for the development of new and efficacious treatment strategies...
  91. pmc Defective adult oligodendrocyte and Schwann cell development, pigment pattern, and craniofacial morphology in puma mutant zebrafish having an alpha tubulin mutation
    Tracy A Larson
    Department of Biology, Institute for Stem Cell and Regenerative Medicine, University of Washington, Box 351800, Seattle, WA 98195 1800, USA
    Dev Biol 346:296-309. 2010
    ..This study identifies the puma mutant as a valuable model for studying microtubule-dependent events of myelination, as well as strategies for remyelination in the adult...
  92. ncbi The melanogenesis and mechanisms of skin-lightening agents--existing and new approaches
    J M Gillbro
    Oriflame Cosmetics Skin Research Institute, SE 101 39 Stockholm, Sweden
    Int J Cosmet Sci 33:210-21. 2011
    ..are commercialized, but we also hypothesize on other mechanisms that could be important targets to control skin pigmentation such as for example regulation of the adrenergic and glutaminergic signalling and also control of ..
  93. pmc The deceptive nature of UVA tanning versus the modest protective effects of UVB tanning on human skin
    Yoshinori Miyamura
    Laboratory of Cell Biology, National Cancer Institute, Bethesda, MD, USA
    Pigment Cell Melanoma Res 24:136-47. 2011
    The relationship between human skin pigmentation and protection from ultraviolet (UV) radiation is an important element underlying differences in skin carcinogenesis rates...
  94. ncbi MC1R gene polymorphism affects skin color and phenotypic features related to sun sensitivity in a population of French adult women
    Julie Latreille
    CE R I E S Research Centre on Human Skin founded by CHANEL, Neuilly sur Seine, France
    Photochem Photobiol 85:1451-8. 2009
    ..Our findings support the hypothesis that MC1R polymorphisms do not necessarily alter the skin color but should sensitize the skin to UV-induced DNA damage...
  95. ncbi OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans
    Ellen E Quillen
    Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA
    Hum Genet 131:1073-80. 2012
    Contemporary variation in skin pigmentation is the result of hundreds of thousands years of human evolution in new and changing environments...
  96. ncbi Derivation and clinical application of special imaging by means of digital cameras and Image J freeware for quantification of erythema and pigmentation
    Tadamasa Yamamoto
    Department of Dermatology, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan
    Skin Res Technol 14:26-34. 2008
    ..The aim of this study was to establish a method for evaluation of the amounts of haemoglobin and melanin using ordinary digital cameras and Image J freeware...
  97. pmc The multicentre south European study 'Helios'. I: Skin characteristics and sunburns in basal cell and squamous cell carcinomas of the skin
    R Zanetti
    , Escuela Andaluza de Salud Publica, Spain
    Br J Cancer 73:1440-6. 1996
    ..Nevertheless, its association with BCC suggests, by analogy with melanoma, a relationship with intense sun exposure. Conversely, SCC would require prolonged exposure to sunlight...
  98. ncbi Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4
    Gertrude E Costin
    Pigment Cell Biology Section, Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    J Cell Sci 116:3203-12. 2003
    ..This mechanism explains the hypopigmentary phenotype of these cells and provides new insights into the involvement of transporters in the normal physiology of melanocytes...
  99. ncbi Melanocortin-1 receptor structure and functional regulation
    Jose C Garcia-Borron
    Department of Biochemistry and Molecular Biology, School of Medicine, University of Murcia, Murcia, Spain
    Pigment Cell Res 18:393-410. 2005
    ..We also discuss recent data on the regulation of MC1R function by paracrine and endocrine factors and by external stimuli such as ultraviolet light...
  100. ncbi Lightening effect on ultraviolet-induced pigmentation of guinea pig skin by oral administration of a proanthocyanidin-rich extract from grape seeds
    Jun Yamakoshi
    Research and Development Division, Kikkoman Corporation, Noda, Noda City, Chiba, Japan
    Pigment Cell Res 16:629-38. 2003
    ..This effect may be related to the inhibition of melanin synthesis by tyrosinase in melanocytes and the reactive oxygen species (ROS)-related proliferation of melanocytes...
  101. ncbi Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex)
    C A Stratakis
    Unit on Genetics and Endocrinology, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 82:2037-43. 1997
    ..Ultrasonography is useful in the detection and clinical follow-up of these lesions...

Research Grants63

  1. UV-induced collagen reduction: treating skin scleroderma
    Sewon Kang; Fiscal Year: 2005
    ..simultaneously inhibiting procollagen synthesis, and that efficacy of treatment is dependent on patients' skin pigmentation in combination with the UV wavelength used for treatment will be tested...
  2. Protein-Protein Interactions in Melanosome Biogenesis
    Vijayasaradhi Setaluri; Fiscal Year: 2006
    ..melanosomal protein, is thought to influence biogenesis of melanosomes, specific role(s) it plays in human skin pigmentation is not known...
  3. Function of calcium exchangers in vetebrate pigmentation
    KEITH CHI CHENG; Fiscal Year: 2010
    ..work will clarify how a newly-discovered sodium- calcium exchanger protein, first characterized in zebrafish, affects pigmentation, and lays a foundation for drugs to treat skin pigmentation problems, and perhaps malignant melanoma.
  4. VITamin D and OmegA-3 TriaL: Effects on Bone Structure and Architecture
    MERYL SUSAN LEBOFF; Fiscal Year: 2013
    ..For each Aim, we will determine whether effects vary with (a) baseline 25(OH) D levels, (b) gender, (c) race/skin pigmentation, and (d) BMI or FMI...
  5. Tyrosinase Model Complexes using Imidazole Ligands
    JOHN BRANNON GARY; Fiscal Year: 2013
    ..Given this mammalian enzymatic function for tyrosinase, the enzyme has been linked to skin pigmentation abnormalities such as flecks and defects...
  6. Plexin signalling in melanocyte biology and melanoma progression
    Glynis A Scott; Fiscal Year: 2013
    ..Sema7A) control melanocyte attachment, spreading and dendricity, which are critically important for normal skin pigmentation. Further, our data suggest a potential role for Sema4D and Sema7A in melanoma progression, because their ..
  7. Vitamin D and Omega-3 Fatty Acids(VITAL Trial): Effects on Fractures
    MERYL SUSAN LEBOFF; Fiscal Year: 2013
    ..2 and do effects vary with (a) baseline and follow up blood levels of these nutrients, (b) gender, (c) race/skin pigmentation, and (d) body mass index? Tertiary Aims: In the VITAL cohort, will Vitamin D3 and/or EPA+DHA supplementation ..
  8. BIOGENESIS OF MELANOSOMES
    Seth J Orlow; Fiscal Year: 2013
    ..Tyrosinase is a determinant of skin pigmentation and risk of cutaneous cancers...
  9. The Role of Ets1 in Melanocyte Development
    Lidia Kos; Fiscal Year: 2012
    ..our studies will also be relevant for the understanding of developmental disorders involving the NC and skin pigmentation. PUBLIC HEALTH RELEVANCE: Neural crest cells give rise to a variety of cell types and the abnormal ..
  10. Supplemental Vitamin D and Functional Outcomes in Early Adolescence
    Richard D Lewis; Fiscal Year: 2010
    ..and emerging evidence suggests that a significant number of children, particularly those with darker skin pigmentation, have inadequate levels of serum 25-hydroxyvitamin D [25(OH)D]...
  11. Sunlight Exposure & Vitamin D Metabolic Gene Variations in Parkinson's Disease
    Beate R Ritz; Fiscal Year: 2010
    ..potential confounding factors such as age, race, gender, education, smoking, dietary sources of vitamin D, skin pigmentation and pesticide exposure...
  12. The role of pheomelanin in cutaneous melanoma
    Rutao Cui; Fiscal Year: 2013
    ..b>Skin pigmentation results from the synthesis of melanin in pigment-producing cells, the melanocytes, followed by distribution ..
  13. Vitamin D and Osteoporosis Prevention in Elderly African Americans
    John F Aloia; Fiscal Year: 2013
    ..As a result of increased skin pigmentation, blacks synthesize less vitamin D from sun exposure...
  14. Epidemiology of Breast Cancer Subtypes in African American Women: a Consortium
    Julie R Palmer; Fiscal Year: 2013
    ..been adaptive in Africa to endemic infectious disease (robust immune response) and intense sunlight (high skin pigmentation), but that in western society may result in hyper-inflammatory milieu and vitamin D deficiency, which may be ..
  15. Vitamin D Intervention and Atherosclerosis Progression in African American Women
    Howard N Hodis; Fiscal Year: 2013
    ..may be particularly relevant for African American women, who are at particular risk for CVD since increased skin pigmentation reduces the capacity of skin to synthesize vitamin D and due to decreased bioavailability of vitamin D in ..
  16. Gene Polymorphisms in Relation to Cancer in Black Women
    Julie R Palmer; Fiscal Year: 2012
    ..We propose to extend the model, which would be inadequate in AA women because of the major role of skin pigmentation in determining vitamin D levels, by adding data on skin pigmentation genes and vitamin D receptor and ..
  17. Multidisciplinary Study of Race Appearance Ancestry Discrimination &Prejudice
    JENNIFER KRISTIN WAGNER; Fiscal Year: 2013
    ..Racial discrimination is itself a health risk factor and known to vary by appearance (e.g. skin pigmentation)...
  18. In vivo real-time detection of circulating melanoma cells
    Vladimir P Zharov; Fiscal Year: 2013
    ..verified with conventional assays;(3) in vivo study of healthy individuals as a control group with different skin pigmentation;and 4) melanoma patients at different stages of disease...
  19. The MITF transcriptional network: melanoma risk and carcinogenesis
    David E Fisher; Fiscal Year: 2013
    ..We will also study prevention strategies: anti-oxidants and topicals switching skin pigmentation. Aim 2 investigates a putative melanoma oncogene, PDE4D-IP, amplified in 25% of melanomas, and predicted to ..
  20. Functional Amyloid in Melansome Biogenesis
    Michael S Marks; Fiscal Year: 2013
    ..Mice that lack a functional Pmel gene generate melanosomes without fibrils but have only modest defects in skin pigmentation. By contrast, several animal models bearing PMEL orthologues with dominant mutations are severely ..
  21. The role of ultraviolet radiation and skin pigmentation in melanoma development
    Devarati Mitra; Fiscal Year: 2013
    ..Finally, the ROS burden in melanocytes will be genetically and pharmacologically altered to investigate if this strategy can block red/blond-melanoma induction. ..
  22. Molecular Genetics of Carney Complex
    Cathy J Hatcher; Fiscal Year: 2010
    ..of the MYH8 gene encoding perinatal myosin causes a CNC variant in which familial cardiac myxomas, spotty skin pigmentation, and endocrinopathy occur in the setting of limb contracture...
  23. Impact of vitamin D supplementation on cardiometabolic risk in schoolchildren
    Jennifer Sacheck; Fiscal Year: 2013
    ..Vitamin D deficiency is even more common in northern latitudes, amongst some minority groups with darker skin pigmentation, and in those who are overweight or obese...
  24. 18th Annual Meeting of the PanAmerican Society of Pigment Cell Research
    Vijayasaradhi Setaluri; Fiscal Year: 2013
    ..in the following areas: Biology of melanin pigmentation and transformed melanocyte, UV-induced changes in skin pigmentation and cutaneous carcinogenesis, Developmental biology and melanocyte stem cells, Immune response to melanocyte ..
  25. Creation of a New Penn State Zebrafish Functional Genomics Core
    KEITH CHI CHENG; Fiscal Year: 2013
    ..funded projects involving human cancer, cardiovascular disease, metabolic disorders, neurodevelopment and skin pigmentation. A pilot project program will ensure lasting use of this new core, as well as integration of research ..
  26. Prevention of Vitamin D Deficiency in Breastfed Infants
    Ekhard Ziegler; Fiscal Year: 2009
    ..S. but is particularly common among infants with dark skin pigmentation and infants living in the northern parts of the U.S...
  27. Dose-dependent anti-inflammatory effects of vitamin D in a human gingivitis model
    Raul Garcia; Fiscal Year: 2009
    ..Because dark skin pigmentation is a potent inhibitor of vitamin D photosynthesis, Non-Hispanic Blacks have much lower 25-OHD serum levels ..
  28. Vitamin D status in pregnant women
    Theresa Scholl; Fiscal Year: 2009
    ..Vitamin D synthesis varies by season and with latitude as well as according to intensity of skin pigmentation. Recent research in the United States found lower circulating levels of 25 (OH) D, the primary indicator of ..
  29. Relationships between Skin Pigmentation, Vitamin D and Blood Pressure
    FLOJAUNE GRIFFIN; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): The goal of this study is to characterize the effect of skin pigmentation on serum 25- hydroxycholecalciferol (vitamin D) levels, and, in turn, ascertain their association with blood pressure among ..
  30. Role of metalloproteinases in deep vein thrombosis
    Khanh Nguyen; Fiscal Year: 2009
    ..Post-phebitic syndrome manifests as persistent leg edema, chronic pain, and dramatic skin changes including skin pigmentation, pruritis, cellulitis, dermatitis, and ulceration...
  31. Skin Pigmentation and Parkinson's Disease Risk
    Caroline Tanner; Fiscal Year: 2003
    The goal of this proposal is to investigate the relationship between skin pigmentation and Parkinson's disease (PD). Early clinical and epidemiologic observations suggested that PD might be most common in persons of European origin...
  32. SEROLOGICAL EXPRESSION ANALYSIS OF VITILIGO AND ALOPECIA
    Vijayasaradhi Setaluri; Fiscal Year: 2001
    ..Vitiligo, characterized by partial or complete loss of skin pigmentation and alopecia areata, a chronic inflammatory hair disorder are two such diseases...
  33. Pressure Ulcer Detection in Darkly Pigmented Skin
    Robin Felder; Fiscal Year: 2007
    ..imaging-based Stage I Pressure Ulcer Detector capable of detecting such a condition in subjects with dark skin pigmentation. The purpose of this proposal is to validate, develop, and evaluate a low cost, non-contact system intended ..
  34. AID TO IDENTIFY AND CATEGORIZE ERYTHEMA IN DARK SKIN
    Mark Friedman; Fiscal Year: 1999
    ..in identifying erythema in darkly pigmented skin and better categorize it in people with all types of skin pigmentation. During phase l research we will develop and test a simple and inexpensive device, similar in shape to a fat ..
  35. The composition and function of BLOC-2 in melanogenesis
    Raymond Boissy; Fiscal Year: 2009
    b>Skin pigmentation is regulated by the synthesis of melanized melanosomes...
  36. VITAMIN D RECEPTOR GENE POLYMORPHISM AND BREAST CANCER
    Esther John; Fiscal Year: 2001
    ..Professional interviewers will collect interview data, measure skin pigmentation, and obtain blood specimens through home visits...
  37. 4th & 5th Amendment Constitutional Privacy & Police Genetic Information-Mining
    ALBERT SCHERR; Fiscal Year: 2007
    ..provides a hazy genetic photograph of a suspect - a genetic nametag, bio-geographical continent of origin, skin pigmentation and eye color...
  38. Investigating the prion formation of neuronal CPEB
    Sven Heinrich; Fiscal Year: 2009
    ..with diverse normal biological functions including cell-adhesion, adaptation to environmental stresses, and skin pigmentation. With our collaborators (Drs...
  39. RISK FACTORS FOR AGE RELATED MACULOPATHY
    Leslie Hyman; Fiscal Year: 1991
    ..The variables to be studied include iris, fundus, and skin pigmentation, refractive error, family history of AMD, light exposure, occupational exposures, and cigarette smoking...
  40. Vitamin D Intake and Breast Cancer Survival
    Michelle Holmes; Fiscal Year: 2005
    ..region of inhabitance and physical activity as indicators for sunlight exposure, race as an indicator for skin pigmentation, and diet...
  41. C-KIT PROTO-ONCOGENE IN NORMAL AND W MUTANT MICE
    Alan Bernstein; Fiscal Year: 1991
    ..In addition, the linkage of the c-kit gene with 'piebald trait', an inherited human skin pigmentation disorder with an associated profound mental retardation, will be investigated...
  42. IMAGER FOR DYNAMIC OPTICAL MAMMOGRAPHY
    Christoph Schmitz; Fiscal Year: 2002
    ..2) We will identify the achievable signal quality as a function of target properties such as breast size and skin pigmentation. 3) Using a limited number of healthy volunteers and subjects diagnosed with breast cancer, we will quantify ..
  43. Local Adaptations in Humans
    Anna Di Rienzo; Fiscal Year: 2010
    ..adaptations for a known selected phenotype linked to Out of Africa expansions into new environments, namely skin pigmentation. 3) Characterize the timing and geographic distribution of adaptations for unknown phenotypes in genes ..
  44. 19th International Pigment Cell Conference - 2005
    Zalfa Abdel Malek; Fiscal Year: 2005
    ..abstract_text> ..
  45. Role of Prostaglandins & Phospholipase A in melanocytes
    Glynis Scott; Fiscal Year: 2009
    ..We hypothesize that PG and phospholipases stimulate HM dendricity, MS transfer &pigmentation through different mechanisms that act synergistically to modulate cutaneous pigmentation following UVR. ..
  46. 2004 National Vitiligo Foundation Scientific Conference
    Raymond Boissy; Fiscal Year: 2004
    ..In addition, mini-symposiums will be organized for each of the sessions. ..
  47. CONSTRUCTION AND APPLICATION OF A US ADMIXTURE MAP
    Mark Shriver; Fiscal Year: 2006
    ..From simulation studies, we estimate that about 1000 AIMs will be required for genome-wide mapping with two-way admixture, and about 1500 for admixture between three populations. [unreadable] [unreadable] [unreadable]..
  48. PHENOLS/CATECHOLS IN OCCUPATIONAL/CONTACT VITILIGO SKIN
    Raymond Boissy; Fiscal Year: 2002
    ..Loss of skin pigmentation can result in cancer, aging, and compromised immunity of the skin as well as psychological and social ..
  49. ON THE ROLE OF THE HPS GENE PRODUCT IN MELANOCYTES
    Raymond Boissy; Fiscal Year: 2002
    ..These studies will contribute to our knowledge of cellular trafficking in general and the pathophysiology of HPS in specific. ..
  50. IDENTIFYING NIDDM GENES USING ADMIXED POPULATIONS
    Mark Shriver; Fiscal Year: 2001
    ..They will verify any positive associations found using sib-pair linkage analysis and the transmission disequilibrium test. ..
  51. Conference--Dermatologic Disease in Skin of Color
    Susan Taylor; Fiscal Year: 2002
    ..They believe that these presentations and discussions will lead to a greater interest in the specific problem related to access to care for dermatologic disease among persons of color. ..
  52. REGULATION OF ENERGY BALANCE BY MELANOCORTIN ANTAGONISTS
    Gregory Barsh; Fiscal Year: 2003
    ..abstract_text> ..
  53. Prospective Study of DNA Repair Gene Variants in Breast Cancer
    Jiali Han; Fiscal Year: 2009
    ..This innovative work is essential to advance this field, and it has substantial potential for application to other areas of cancer susceptibility. ..
  54. THE PHOTOBIOLOGY OF VITAMIN D
    Michael Holick; Fiscal Year: 2005
    ..Results from this study should provide important new insights into the photoproduction of toxisterols and suprasterols in human skin and provide new information about their potential biologic functions in the skin. ..
  55. Nucleotide Excision Repair Gene Variants and Skin Cancer
    Jiali Han; Fiscal Year: 2005
    ..abstract_text> ..
  56. Attractin and Mahoganoid in Spongy Neurodegeneration
    Gregory Barsh; Fiscal Year: 2007
    ..Investigating the biochemical, cellular, and genetic relationships between Atrn, Mahoganoid, and PrP is likely to provide general insight into the pathogenesis of spongy degeneration. [unreadable] [unreadable]..
  57. Injury from Sexual Assault: Addressing Health Disparity
    Marilyn S Sommers; Fiscal Year: 2010
    ..Public Health Relevance: Violence against women is a silent epidemic. The forensic exam used to collect evidence after rape needs to be equally sensitive for females with dark skin as well as females with light skin. ..
  58. Social Inequalities in Periodontal Diseases
    Luisa Borrell; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  59. Body size and breast cancer risk in a multiethnic population
    Esther John; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  60. Genetic Variants in Pigmentation Genes and Skin Cancer Risk
    Jiali Han; Fiscal Year: 2008
    ..This research will contribute to the scientific basis for identifying high-risk individuals for skin cancer and providing individualized risk management strategies. [unreadable] [unreadable] [unreadable]..
  61. Genetic Variants in Immunological Mediator Genes and Skin Cancer Risk
    Jiali Han; Fiscal Year: 2008
    ..This research will contribute to the scientific basis for identifying individuals at high-risk for skin cancer and providing individualized risk management strategies. [unreadable] [unreadable] [unreadable]..
  62. PTH (7-34) for Chemotherapy alopecia in Breast Cancer
    Michael Holick; Fiscal Year: 2006
    ..unreadable] [unreadable]..