SEARCH

SEARCH BY CITATION

Cited in:

CrossRef

This article has been cited by:

  1. 1
    William R. Jeffery, Li Ma, Amy Parkhurst, Helena Bilandžija, Biology and Evolution of the Mexican Cavefish, 2016,

    CrossRef

  2. 2
    Michael C. Struck, Albinism: Update on Ocular Features, Current Ophthalmology Reports, 2015, 3, 4, 232

    CrossRef

  3. 3
    Suzanne V. Saenko, Sangeet Lamichhaney, Alvaro Martinez Barrio, Nima Rafati, Leif Andersson, Michel C. Milinkovitch, Amelanism in the corn snake is associated with the insertion of an LTR-retrotransposon in the OCA2 gene, Scientific Reports, 2015, 5, 17118

    CrossRef

  4. 4
    Sangjoo Park, V. K. Morya, Dong Hoang Nguyen, Birendra K. Singh, Hyang-Bok Lee, Eun-Ki Kim, Unrevealing the role of P-protein on melanosome biology and structure, using siRNA-mediated down regulation of OCA2, Molecular and Cellular Biochemistry, 2015, 403, 1-2, 61

    CrossRef

  5. 5
    Nicholas W Bellono, Iliana E Escobar, Ariel J Lefkovith, Michael S Marks, Elena Oancea, An intracellular anion channel critical for pigmentation, eLife, 2014, 3,

    CrossRef

  6. 6
    Ai-Young Lee, An updated review of melasma pathogenesis, Dermatologica Sinica, 2014, 32, 4, 233

    CrossRef

  7. 7
    Balu Kamaraj, Rituraj Purohit, Computational Screening of Disease-Associated Mutations in OCA2 Gene, Cell Biochemistry and Biophysics, 2014, 68, 1, 97

    CrossRef

  8. 8
    Shipra Bhatia, Dirk A. Kleinjan, Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences, Human Genetics, 2014, 133, 7, 815

    CrossRef

  9. 9
    Valeria Rimoldi, Letizia Straniero, Rosanna Asselta, Lucia Mauri, Emanuela Manfredini, Silvana Penco, Giovanni P. Gesu, Alessandra Del Longo, Elena Piozzi, Giulia Soldà, Paola Primignani, Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II, Gene, 2014, 537, 1, 79

    CrossRef

  10. 10
    Zhiping Jiang, Jennifer C. Lee, Lysophospholipid-Containing Membranes Modulate the Fibril Formation of the Repeat Domain of a Human Functional Amyloid, Pmel17, Journal of Molecular Biology, 2014, 426, 24, 4074

    CrossRef

  11. 11
    Balu Kamaraj, Rituraj Purohit, Mutational Analysis of Oculocutaneous Albinism: A Compact Review, BioMed Research International, 2014, 2014, 1

    CrossRef

  12. 12
    Alisha J. Beirl, Tor H. Linbo, Marea J. Cobb, Cynthia D. Cooper, oca2 regulation of chromatophore differentiation and number is cell type specific in zebrafish, Pigment Cell & Melanoma Research, 2014, 27, 2
  13. 13
    M. Binstock, F. Hafeez, C. Metchnikoff, S.T. Arron, Single-nucleotide polymorphisms in pigment genes and nonmelanoma skin cancer predisposition: a systematic review, British Journal of Dermatology, 2014, 171, 4
  14. 14
    Evelina Bertolotti, Alberto Neri, Monica Camparini, Claudio Macaluso, Valeria Marigo, Stem cells as source for retinal pigment epithelium transplantation, Progress in Retinal and Eye Research, 2014, 42, 130

    CrossRef

  15. You have free access to this content15
    Junko Yoshizawa, Yuko Abe, Naoki Oiso, Kazuyoshi Fukai, Yutaka Hozumi, Tomohiro Nakamura, Tomohiko Narita, Tomonori Motokawa, Kazumasa Wakamatsu, Shosuke Ito, Akira Kawada, Gen Tamiya, Tamio Suzuki, Variants in melanogenesis-related genes associate with skin cancer risk among Japanese populations, The Journal of Dermatology, 2014, 41, 4
  16. 16
    Seung-Hun Oh, Hajin Nam, Jun-Gyo Suh, A high resolution genetic mapping of the faded (fe) gene to a region betweenD10mit156andD10mit193on mouse chromosome 10, Laboratory Animal Research, 2013, 29, 1, 33

    CrossRef

  17. 17
    Yuko Abe, Gen Tamiya, Tomohiro Nakamura, Yutaka Hozumi, Tamio Suzuki, Association of melanogenesis genes with skin color variation among Japanese females, Journal of Dermatological Science, 2013, 69, 2, 167

    CrossRef

  18. 18
    Fan Liu, Bei Wen, Manfred Kayser, Colorful DNA polymorphisms in humans, Seminars in Cell & Developmental Biology, 2013, 24, 6-7, 562

    CrossRef

  19. 19
    Bijal Karia, Jo Ann Martinez, Alexander J.R. Bishop, Induction of homologous recombination following in utero exposure to DNA-damaging agents, DNA Repair, 2013, 12, 11, 912

    CrossRef

  20. 20
    Oliver Puk, Martin Hrabĕ de Angelis, Jochen Graw, Longitudinal fundus and retinal studies with SD-OCT: a comparison of five mouse inbred strains, Mammalian Genome, 2013, 24, 5-6, 198

    CrossRef

  21. 21
    Jason E. Hawkes, Pamela B. Cassidy, Prashiela Manga, Raymond E. Boissy, David Goldgar, Lisa Cannon-Albright, Scott R. Florell, Sancy A. Leachman, Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree, Journal of Dermatological Science, 2013, 69, 1, 30

    CrossRef

  22. 22
    Julia S. Allwood, SallyAnn Harbison, SNP model development for the prediction of eye colour in New Zealand, Forensic Science International: Genetics, 2013, 7, 4, 444

    CrossRef

  23. 23
    Wynn K. Meyer, Sidi Zhang, Sachiko Hayakawa, Hiroo Imai, Molly Przeworski, The convergent evolution of blue iris pigmentation in primates took distinct molecular paths, American Journal of Physical Anthropology, 2013, 151, 3
  24. 24
    Ai-Young Lee, Minsoo Noh, The regulation of epidermal melanogenesis via cAMP and/or PKC signaling pathways: insights for the development of hypopigmenting agents, Archives of Pharmacal Research, 2013, 36, 7, 792

    CrossRef

  25. 25
    Susan Walsh, Andreas Wollstein, Fan Liu, Usha Chakravarthy, Mati Rahu, Johan H. Seland, Gisele Soubrane, Laura Tomazzoli, Fotis Topouzis, Johannes R. Vingerling, Jesus Vioque, Astrid E. Fletcher, Kaye N. Ballantyne, Manfred Kayser, DNA-based eye colour prediction across Europe with the IrisPlex system, Forensic Science International: Genetics, 2012, 6, 3, 330

    CrossRef

  26. 26
    Y. Clément, L. Prut, F. Saurini, Y.S. Mineur, A.-M. Le Guisquet, S. Védrine, C. Andres, G. Vodjdani, C. Belzung, Gabra5-gene haplotype block associated with behavioral properties of the full agonist benzodiazepine chlordiazepoxide, Behavioural Brain Research, 2012, 233, 2, 474

    CrossRef

  27. 27
    Vasiliki Nikolaou, Alexander J. Stratigos, Hensin Tsao, Hereditary Nonmelanoma Skin Cancer, Seminars in Cutaneous Medicine and Surgery, 2012, 31, 4, 204

    CrossRef

  28. 28
    George Chenaux, Mark Henkemeyer, Forward signaling by EphB1/EphB2 interacting with ephrin-B ligands at the optic chiasm is required to form the ipsilateral projection, European Journal of Neuroscience, 2011, 34, 10
  29. 29
    Diego J. Hoyle, Imilce A. Rodriguez-Fernandez, Esteban C. Dell’Angelica, Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation, Pigment Cell & Melanoma Research, 2011, 24, 2
  30. 30
    Désirée White, Montserrat Rabago-Smith, Genotype–phenotype associations and human eye color, Journal of Human Genetics, 2011, 56, 1, 5

    CrossRef

  31. 31
    Seléne van der Poel, Jasja Wolthoorn, Dave van den Heuvel, Maarten Egmond, Sophie Groux-Degroote, Sylvia Neumann, Hans Gerritsen, Gerrit van Meer, Hein Sprong, Hyperacidification of Trans-Golgi Network and Endo/Lysosomes in Melanocytes by Glucosylceramide-Dependent V-ATPase Activity, Traffic, 2011, 12, 11
  32. 32
    Susan Walsh, Fan Liu, Kaye N. Ballantyne, Mannis van Oven, Oscar Lao, Manfred Kayser, IrisPlex: A sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information, Forensic Science International: Genetics, 2011, 5, 3, 170

    CrossRef

  33. 33
    Seung-Hun Oh, Yoonyi Nam, Jun-Gyo Suh, Mapping of the Faded (fe) Gene to a Region betweenD10mit191andD10mit44on Mouse Chromosome 10, Laboratory Animal Research, 2011, 27, 1, 41

    CrossRef

  34. 34
    Ryan P. McGlinchey, Thai Leong Yap, Jennifer C. Lee, The yin and yang of amyloid: insights from α-synuclein and repeat domain of Pmel17, Physical Chemistry Chemical Physics, 2011, 13, 45, 20066

    CrossRef

  35. 35
    Taisuke Kondo, Vincent J Hearing, Update on the regulation of mammalian melanocyte function and skin pigmentation, Expert Review of Dermatology, 2011, 6, 1, 97

    CrossRef

  36. 36
    C. M. Pfefferkorn, R. P. McGlinchey, J. C. Lee, Effects of pH on aggregation kinetics of the repeat domain of a functional amyloid, Pmel17, Proceedings of the National Academy of Sciences, 2010, 107, 50, 21447

    CrossRef

  37. 37
    Helene C Johanson, Wei Chen, Carol Wicking, Richard A Sturm, Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community, Journal of Human Genetics, 2010, 55, 2, 103

    CrossRef

  38. 38
    A. Claybon, B. Karia, C. Bruce, A. J. R. Bishop, PARP1 suppresses homologous recombination events in mice in vivo, Nucleic Acids Research, 2010, 38, 21, 7538

    CrossRef

  39. 39
    Androuw Carrasco, Elaine M. Forbes, Pascale Jeambrun, Murray H. Brilliant, A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population, Pigment Cell & Melanoma Research, 2009, 22, 5
  40. 40
    R. P. McGlinchey, F. Shewmaker, P. McPhie, B. Monterroso, K. Thurber, R. B. Wickner, The repeat domain of the melanosome fibril protein Pmel17 forms the amyloid core promoting melanin synthesis, Proceedings of the National Academy of Sciences, 2009, 106, 33, 13731

    CrossRef

  41. 41
    Kimberley A. Beaumont, Yan Yan Liu, Richard A. Sturm, G Protein-Coupled Receptors in Health and Disease, Part A, 2009,

    CrossRef

  42. 42
    William R. Jeffery, Evolution and Development, 2009,

    CrossRef

  43. 43
    Richard A. Sturm, David L. Duffy, Zhen Zhen Zhao, Fabio P.N. Leite, Mitchell S. Stark, Nicholas K. Hayward, Nicholas G. Martin, Grant W. Montgomery, A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color, The American Journal of Human Genetics, 2008, 82, 2, 424

    CrossRef

  44. 44
    Tamio Suzuki, Yasushi Tomita, Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4, Journal of Dermatological Science, 2008, 51, 1, 1

    CrossRef

  45. 45
    J. B. Gross, M. Protas, M. Conrad, P. E. Scheid, O. Vidal, W. R. Jeffery, R. Borowsky, C. J. Tabin, Synteny and candidate gene prediction using an anchored linkage map of Astyanax mexicanus, Proceedings of the National Academy of Sciences, 2008, 105, 51, 20106

    CrossRef

  46. 46
    Manfred Kayser, Fan Liu, A. Cecile J.W. Janssens, Fernando Rivadeneira, Oscar Lao, Kate van Duijn, Mark Vermeulen, Pascal Arp, Mila M. Jhamai, Wilfred F.J. van IJcken, Johan T. den Dunnen, Simon Heath, Diana Zelenika, Dominiek D.G. Despriet, Caroline C.W. Klaver, Johannes R. Vingerling, Paulus T.V.M. de Jong, Albert Hofman, Yurii S. Aulchenko, Andre G. Uitterlinden, Ben A. Oostra, Cornelia M. van Duijn, Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene, The American Journal of Human Genetics, 2008, 82, 2, 411

    CrossRef

  47. 47
    David L. Duffy, Grant W. Montgomery, Wei Chen, Zhen Zhen Zhao, Lien Le, Michael R. James, Nicholas K. Hayward, Nicholas G. Martin, Richard A. Sturm, A Three–Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation, The American Journal of Human Genetics, 2007, 80, 2, 241

    CrossRef

  48. 48
    Richard A. Newton, Donald W. Roberts, J. Helen Leonard, Richard A. Sturm, Human melanocytes expressing MC1R variant alleles show impaired activation of multiple signaling pathways, Peptides, 2007, 28, 12, 2387

    CrossRef

  49. 49
    Graça Raposo, Michael S. Marks, Melanosomes — dark organelles enlighten endosomal membrane transport, Nature Reviews Molecular Cell Biology, 2007, 8, 10, 786

    CrossRef

  50. 50
    Tony Frudakis, Timothy Terravainen, Matthew Thomas, Multilocus OCA2 genotypes specify human iris colors, Human Genetics, 2007, 122, 3-4, 311

    CrossRef

  51. 51
    O. Lao, J. M. de Gruijter, K. van Duijn, A. Navarro, M. Kayser, Signatures of Positive Selection in Genes Associated with Human Skin Pigmentation as Revealed from Analyses of Single Nucleotide Polymorphisms, Annals of Human Genetics, 2007, 71, 3
  52. 52
    Kunal Ray, Moumita Chaki, Mainak Sengupta, Tyrosinase and ocular diseases: Some novel thoughts on the molecular basis of oculocutaneous albinism type 1, Progress in Retinal and Eye Research, 2007, 26, 4, 323

    CrossRef

  53. 53
    A. Fernández, L. Silió, C. Rodríguez, C. Óvilo, Characterization of OCA2 cDNA in different porcine breeds and analysis of its potential effect on skin pigmentation in a red Iberian strain, Animal Genetics, 2006, 37, 2
  54. 54
    F Mantoux, Jean-Paul Ortonne, Physiologie du système pigmentaire, EMC - Dermatologie, 2006, 1, 1, 1

    CrossRef

  55. 55
    William R. Jeffery, Regressive Evolution of Pigmentation in the CavefishAstyanax, Israel Journal of Ecology & Evolution, 2006, 52, 3-4, 405

    CrossRef

  56. 56
    Rangaprasad Sarangarajan, Shireesh P. Apte, The polymerization of melanin: a poorly understood phenomenon with egregious biological implications, Melanoma Research, 2006, 16, 1, 3

    CrossRef

  57. 57
    Thierry Passeron, Frédéric Mantoux, Jean-Paul Ortonne, Genetic disorders of pigmentation, Clinics in Dermatology, 2005, 23, 1, 56

    CrossRef

  58. 58
    Takashi Kuramoto, Hiroshi Gohma, Kunio Kimura, Dirk Wedekind, Hans J. Hedrich, Tadao Serikawa, The rat pink-eyed dilution (p) mutation: An identical intragenic deletion in pink-eye dilute-coat strains and several Wistar-derived albino strains, Mammalian Genome, 2005, 16, 9, 712

    CrossRef

  59. 59
    Gu Zhu, David M. Evans, David L. Duffy, Grant W. Montgomery, Sarah E. Medland, Nathan A. Gillespie, Kelly R. Ewen, Mary Jewell, Yew Wah Liew, Nicholas K. Hayward, Richard A. Sturm, Jeffrey M. Trent, Nicholas G. Martin, A Genome Scan for Eye Color in 502 Twin Families: Most Variation is due to a QTL on Chromosome 15q, Twin Research, 2004, 7, 2, 197

    CrossRef

  60. 60
    Sylvain Guibert, Michael Girardot, Hubert Leveziel, Raymond Julien, Ahmad Oulmouden, Pheomelanin Coat Colour Dilution in French Cattle Breeds is not Correlated with the TYR, TYRP1 and DCT Transcription Levels, Pigment Cell Research, 2004, 17, 4
  61. 61
    Zanhua Yi, Nanibaa’ Garrison, Orit Cohen-Barak, Tatiana M. Karafet, Richard A. King, Robert P. Erickson, Michael F. Hammer, Murray H. Brilliant, A 122.5-Kilobase Deletion of the P Gene Underlies the High Prevalence of Oculocutaneous Albinism Type 2 in the Navajo Population, The American Journal of Human Genetics, 2003, 72, 1, 62

    CrossRef

  62. 62
    Tomohisa Hirobe, Kazumasa Wakamatsu, Shosuke Ito, Changes in the Proliferation and Differentiation of Neonatal Mouse Pink-Eyed Dilution Melanocytes in the Presence of Excess Tyrosine, Pigment Cell Research, 2003, 16, 6
  63. 63
    Simon Alaluf, Karen Barrett, Margaret Blount, Nik Carter, Ethnic Variation in Tyrosinase and TYRP1 Expression in Photoexposed and Photoprotected Human Skin, Pigment Cell Research, 2003, 16, 1
  64. 64
    F. Mantoux, J-P. Ortonne, Fisiología del sistema pigmentario, EMC - Dermatología, 2003, 37, 3, 1

    CrossRef

  65. 65
    Richard A Spritz, Pei-Wen Chiang, Naoki Oiso, Asem Alkhateeb, Human and mouse disorders of pigmentation, Current Opinion in Genetics & Development, 2003, 13, 3, 284

    CrossRef

  66. 66
    JANIS ANCANS, NIAMH FLANAGAN, MARTIN J. HOOGDUIJN, ANTHONY J. THODY, P-Locus Is a Target for the Melanogenic Effects of MC-1R Signaling, Annals of the New York Academy of Sciences, 2003, 994, 1
  67. 67
    Tamio Suzuki, Yoshinori Miyamura, Jun Matsunaga, Hiroshi Shimizu, Yasuhiro Kawachi, Naoko Ohyama, Osamu Ishikawa, Tomoyuki Ishikawa, Hiroshi Terao, Yasushi Tomita, Six Novel P Gene Mutations and Oculocutaneous Albinism Type 2 Frequency in Japanese Albino Patients, Journal of Investigative Dermatology, 2003, 120, 5, 781

    CrossRef

  68. 68
    Tsuneto Kushimoto, Julio C. Valencia, Gertrude-E. Costin, Kazutomo Toyofuku, Hidenori Watabe, Ken-Ichi Yasumoto, Francois Rouzaud, Wilfred D. Vieira, Vincent J. Hearing, The Melanosome: An Ideal Model to Study Cellular Differentiation, Pigment Cell Research, 2003, 16, 3
  69. 69
    Vijayasaradhi Setaluri, The Melanosome: Dark Pigment Granule Shines Bright Light on Vesicle Biogenesis and More, Journal of Investigative Dermatology, 2003, 121, 4, 650

    CrossRef

  70. 70
    Tomohisa Hirobe, Yoko Kawa, Masako Mizoguchi, Shosuke Ito, Kazumasa Wakamatsu, Effects of genic substitution at the pink-eyed dilution locus on the proliferation and differentiation of mouse epidermal melanocytes in vivo and in vitro, Journal of Experimental Zoology, 2002, 292, 4
  71. 71
    Tomohisa Hirobe, Kazumasa Wakamatsu, Shosuke Ito, Hiroyuki Abe, Yoko Kawa, Masako Mizoguchi, Stimulation of the proliferation and differentiation of mouse pink-eyed dilution epidermal melanocytes by excess tyrosine in serum-free primary culture, Journal of Cellular Physiology, 2002, 191, 2
  72. 72
    Graça Raposo, Michael S. Marks, The Dark Side of Lysosome-Related Organelles: Specialization of the Endocytic Pathway for Melanosome Biogenesis, Traffic, 2002, 3, 4
  73. 73
    Kazutomo Toyofuku, Julio C. Valencia, Tsuneto Kushimoto, Gertrude-E. Costin, Victoria M. Virador, Wilfred D. Vieira, Victor J. Ferrans, Vincent J. Hearing, The Etiology of Oculocutaneous Albinism (OCA) Type II: The Pink Protein Modulates the Processing and Transport of Tyrosinase, Pigment Cell Research, 2002, 15, 3
  74. 74
    Murray Brilliant, John Gardner, Melanosomal pH, Pink Locus Protein and their Roles in Melanogenesis, Journal of Investigative Dermatology, 2001, 117, 2, 386

    CrossRef

  75. 75
    Michael S. Marks, Miguel C. Seabra, The melanosome: membrane dynamics in black and white, Nature Reviews Molecular Cell Biology, 2001, 2, 10, 738

    CrossRef

  76. 76
    William S Oetting, Albinism: Genetics, eLS,
  77. 77
    History and Features of Medaka,
  78. 78
    References,