Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4

Newton, J.M., Cohen-Barak, Orit, Hagiwara, Nobuko, Gardner, John M., Davisson, Muriel T., King, Richard A., Brilliant, Murray H.·2001·The American Journal of Human Genetics
DOI 10.1086/324340

Cited by (350)

Items 201–300 of 350

  1. A splice site mutation is the cause of the high prevalence of oculocutaneous albinism type 2 in the Kuna population
    Androuw Carrasco, Elaine M. Forbes, Pascale Jeambrun, Murray H. Brilliant · 2009 · Pigment Cell & Melanoma Research
  2. Mutations in SLC45A2 lead to loss of melanin in parrot feathers
    Shatadru Ghosh Roy, Anna Bakhrat, Moty Abdu, Sandra Afonso, Paulo Pereira, Miguel Carneiro, Uri Abdu · 2023 · G3 Genes Genomes Genetics
  3. Biophysical Compatibility of a Heterotrimeric Tyrosinase-TYRP1-TYRP2 Metalloenzyme Complex
    Olga Lavinda, Prashiela Manga, Seth J. Orlow, Timothy J. Cardozo · 2021 · Frontiers in Pharmacology
  4. A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4
    Ryoko Oki, Kisaburo Yamada, Satoko Nakano, Kenichi Kimoto, Ken Yamamoto, Hiroyuki Kondo, Toshiaki Kubota · 2017 · Investigative Ophthalmology & Visual Science
  5. Skin Color in Fish and Humans: Impacts on Science and Society
    Keith C. Cheng · 2008 · Zebrafish
  6. Regressive Evolution of Pigmentation in the Cavefish Astyanax
    William R. Jeffery · 2006 · Israel Journal of Ecology and Evolution
  7. Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families
    Hongyi Li, Wei Haiyun, Hui Zheng, Qing Wenren, Duan Honglei, Meng Shu, Jiang Weiying · 2007 · Prenatal Diagnosis
  8. Coordinated microRNA/mRNA Expression Profiles Reveal Unique Skin Color Regulatory Mechanisms in Chinese Giant Salamander (Andrias davidianus)
    Yanjie Guo, Weini Wu, Xueyi Yang · 2023 · Animals
  9. Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism
    Prashiela Manga, Seth J. Orlow · 2011 · Journal of Clinical Investigation
  10. Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4
    Saeko Ozaki, Yoko Funasaka, Y Otsuka, Satomi Oyama, Michiko Ito, Shin‐Ichi Osada, Takashi Ueno, Ken Okamura, Yutaka Hozumi, Tamio Suzuki et al. · 2016 · Acta Dermato Venereologica
  11. Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2
    Takayuki Konno, Yuko Abe, Masakazu Kawaguchi, Katrien Storm, Martine Biervliet, Winnie Courtens, Michihiro Kono, Yasushi Tomita, Tamio Suzuki · 2009 · American Journal of Medical Genetics Part A
  12. Modification of an Existing Chromosomal Inversion to Engineer a Balancer for Mouse Chromosome 15
    Wallace S.H. Chick, Sarah E. Mentzer, Donald A. Carpenter, Eugene M. Rinchik, Yun You · 2004 · Genetics
  13. An albino mutant of the Japanese rat snake (Elaphe climacophora) carries a nonsense mutation in the tyrosinase gene
    Shuzo Iwanishi, Shohei Zaitsu, Hiroki Shibata, Eiji Nitasaka · 2018 · Genes & Genetic Systems
  14. Hereditary hypo/de‐pigmented dermatoses: An overview
    Virendra Nath Sehgal, Govind Srivastava · 2008 · International Journal of Dermatology
  15. Inheritance of white colour in Alpacas: Identifying the genes involved
    Kylie Munyard · 2013 · eSpace (Curtin University)
  16. Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort
    Laire Schidlowski, Fernando Liebert, Pérola Grupenmacher Iankilevich, Priscila Regina Orso Rebellato, Rafaela Andrade Rocha, Nadia Aparecida Pereira de Almeida, Aayushee Jain, Yiming Wu, Yuval Itan, Roberto Rosati et al. · 2020 · Frontiers in Genetics
  17. Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3
    Ighovie F. Onojafe, Lucyanne H. Megan, Madeline G. Melch, Joseph O. Aderemi, Ramakrishna P. Alur, Mones S. Abu-Asab, Chi‐Chao Chan, Isa M. Bernardini, Jessica S. Albert, Tiziana Cogliati et al. · 2018 · Investigative Ophthalmology & Visual Science
  18. Transcriptome analysis and candidate gene identification reveals insights into the molecular mechanisms of hypermelanosis in Chinese tongue sole (Cynoglossus semilaevis)
    Yangzhen Li, Peng Cheng, Ming Li, Yuanri Hu, Zhongkai Cui, Chuantao Zhang, Songlin Chen · 2021 · Aquaculture and Fisheries
  19. Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism
    Aydan İkincioğulları, Mustafa Tekin, Figen Doğu, İsmail Reisli, Gönül Tanır, Zanhua Yi, Nanibaa’ A. Garrison, Murray H. Brilliant, Emel Babacan · 2004 · European Journal of Pediatrics
  20. Biogenesis of Melanosomes
    Delevoye, Cédric, Giordano, Francesca, Marks, Michael S., Raposo, Graça · 2011 · Melanins and Melanosomes
  21. A frame-shift mutation in COMTD1 is associated with impaired pheomelanin pigmentation in chicken
    Huijuan Bi, Jonas Tranell, Dawn C. Harper, Weifeng Lin, Jingyi Li, Anders R. Hellström, Mårten Larsson, Carl‐Johan Rubin, Chao Wang, Shumaila Sayyab et al. · 2023 · PLoS Genetics
  22. Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders
    Prashiela Manga, Stacie K. Loftus · 2025 · Annals of Human Genetics
  23. Albinisme oculo-cutané
    Caroline Rooryck, Fanny Morice, Bruno Mortemousque, Didier Lacombe, Alain Taı̈eb, Benoı̂t Arveiler · 2007 · Annales de Dermatologie et de Vénéréologie
  24. Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3)
    Javier Jardón, Natalio Izquierdo, Jessica Y. Renta, Omar García‐Rodríguez, Carmen Lydia Cadilla · 2014 · Ophthalmic Genetics
  25. Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations
    Ken Okamura, Yuta Araki, Yuko Abe, Akari Shigyou, Toshiharu Fujiyama, Atsunori Baba, Takuro Kanekura, Yasutsugu Chinen, Michihiro Kono, Hironori Niizeki et al. · 2015 · Journal of Dermatological Science
  26. Delineating the genetic heterogeneity of OCA in Hungarian patients
    Beáta Fábos, Katalin Farkas, Lola Tóth, Adrienn Sulák, Kornélia Tripolszki, Mariann Tihanyi, Réka Németh, Krisztina Vas, Zsanett Csoma, Lajos Vince Kemény et al. · 2017 · European journal of medical research
  27. Diagnosis of some common and uncommon hyperpigmentation disorders in children
    Alain Taı̈eb, Khaled Ezzedine, Fanny Morice‐Picard · 2014 · Dermatologica Sinica
  28. Immortalization of mouse melanocytes carrying mutations in various pigmentation genes
    Gertrude‐E. Costin, Wilfred D. Vieira, Julio C. Valencia, François Rouzaud, M. Lynn Lamoreux, Vincent J. Hearing · 2004 · Analytical Biochemistry
  29. Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites
    Letizia Straniero, Valeria Rimoldi, Giulia Soldà, Lucia Mauri, Emanuela Manfredini, Elena Andreucci, Sara Bargiacchi, Silvana Penco, Giovanni Pietro Gesu, Alessandra Longo et al. · 2015 · Journal of Human Genetics
  30. Disorders of Pigmentation
    Amy S. Paller, Anthony J. Mancini · 2011 · Elsevier eBooks
  31. MC1R gene variants involvement in human OCA phenotype
    Shamim Saleha, Taj Ali Khan, Shaista Zafar · 2016 · Open Life Sciences
  32. Current Status of Medaka Genetics and Genomics
    Manfred Schartl, Indrajit Nanda, Mariko Kondo, Michael Schmid, Shuichi Asakawa, Takashi Sasaki, Nobuyoshi Shimizu, Thorsten Henrich, Joachim Wittbrodt, Makoto Furutani‐Seiki et al. · 2004 · Methods in cell biology
  33. Generation of Albino Phenotype in Ornamental Fish by CRISPR/Cas9-Mediated Genome Editing of slc45a2 Gene
    Changqing Zhang, Ziheng Ren, Zhiyuan Gong · 2023 · Marine Biotechnology
  34. Two‐pore channel 2 is required for soluble adenylyl cyclase‐dependent regulation of melanosomal pH and melanin synthesis
    Dalee Zhou, Zuhal Eraslan, Dawson Miller, Isobel Taylor, Jaewon You, Samuel J. Grondin, Martha Vega, Prashiela Manga, Philip S. Goff, Elena V. Sviderskaya et al. · 2024 · Pigment Cell & Melanoma Research
  35. Investigation of albinism genes in congenital esotropia.
    Kathryn P. Burdon, Robin M. Wilkinson, Julie M. Barbour, Joanne L. Dickinson, James M Stankovich, David Anthony Mackey, Michèle M. Sale · 2003 · PubMed
  36. Skin Pigmentation and Melanoma Risk
    John A., Amanda F. Marsch, James Prewitt Lagrew, W. Brooke · 2011 · InTech eBooks
  37. A Chinese case of oculocutaneous albinism type 4 with two novel mutations
    Hongyi Li, Shu Meng, Hui Zheng, Haiyun Wei, Ying Zhang · 2008 · International Journal of Dermatology
  38. Identification of six genomic regions associated with pigment intensity in alpacas
    Naomi Gray, Ishani Shah, David Groth, Kylie Munyard · 2023 · Animal Production Science
  39. Oculocutaneous Albinism in Suncus murinus: Establishment of a Strain and Identification of Its Responsible Gene
    Tsuboi Kie, Yoshitaka Hayashi, Takamichi Jogahara, Go Ogura, Yoshiharu Murata, Sen‐ichi Oda · 2009 · EXPERIMENTAL ANIMALS
  40. Perspective in Pigmentation Disorders
    Manish Adhikari, Anser Ali, Nagendra Kumar Kaushik, Eun Ha Choi · 2018 · Springer eBooks
  41. Near Fixation of 374l Allele Frequencies of the Skin Pigmentation Gene SLC45A2 in Africa
    Gérard Lucotte, Isao Yuasa · 2013 · Biochemical Genetics
  42. Genetic Hypomelanoses: Generalized Hypopigmentation
    Richard A. King, William S. Oetting, Philippe Bahadoran, Jean Paul Ortonne, A S Gadenne, James J. Nordlund, Marnie D. Titsch, Allan D. Mineroff, Jean L. Bolognia, Tanusin Ploysangam · 2006 · Wiley eBooks
  43. Single organelle measurements of melanosome pH using the novel ratiometric indicator RpHiMEL
    Jessica L. Scales, Donald C. Koroma, Elena Oancea · 2021 · Methods in enzymology on CD-ROM/Methods in enzymology
  44. Case of oculocutaneous albinism complicated with squamous cell carcinoma, B owen's disease and actinic keratosis
    Satoko Minakawa, Takahide Kaneko, Yasushi Matsuzaki, Eijiro Akasaka, Hiroki Mizukami, Yuko Abe, Yutaka Hozumi, Tamio Suzuki, Yoshihiko Mitsuhashi, Daisuke Sawamura · 2014 · The Journal of Dermatology
  45. Prediction Model Validation: Normal Human Pigmentation Variation
    Robert K. Valenzuela, Shosuke Ito, Kazumasa Wakamatsu · 2011 · Journal of Forensic Research
  46. Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism
    Tinka Hovnik, Maruša Debeljak, Manca Tekavčič Pompe, Sara Bertok, Tadej Battelino, Branka Stirn Kranjc, Katarina Trebušak Podkrajšek · 2021 · Acta chimica slovenica
  47. Functional analysis of OCA4 mutant sequences using under white mouse melanocytes
    Takayuki Konno, Yuko Abe, Masakazu Kawaguchi, Taisuke Kondo, Yasushi Tomita, Tamio Suzuki · 2009 · Pigment Cell & Melanoma Research
  48. Congenital and Hereditary Disorders of the Skin
    Mark M. Tran, BERNARD ALLAN COHEN · 2011 · Avery's Diseases of the Newborn
  49. Genetic Disorders of Pigmentation
    Alain Taı̈eb, Fanny Morice‐Picard, Khaled Ezzedine · 2016
  50. Epidermal Pigmentation, Nucleotide Excision Repair and Risk of Skin Cancer
    2012 · Journal of Carcinogenesis & Mutagenesis
  51. Supporting sustainable development goals through a gamified mHealth application for people with albinism in Africa
    René Baranyi, Amina Hasimbegovic, Sylvia Winkler, Christoph Aigner, Paul Spiesberger, Thomas Grechenig · 2023 · Entertainment Computing
  52. The Slc45a4 Gene Regulates Pigmentation in a Manner Distinct from that of the OCA4 Gene Slc45a2
    Sofia Brito, Hyojin Heo, Byungsun Cha, Sang Hun Lee, Gunwoo Park, Byeong-Mun Kwak, Je Kyung Seong, Ho Lee, Ji-Hwan Park, Byung Mook Weon et al. · 2023 · Journal of Investigative Dermatology
  53. Demystifying Skin Color and “Race”
    Keith C. Cheng · 2008 · Springer eBooks
  54. Molecular Biology of Albinism
    Prashiela Manga · 2018 · Elsevier eBooks
  55. Disorders of Pigmentation
    Amy S. Paller, Anthony J. Mancini · 2016 · Elsevier eBooks
  56. Albinism: Ocular and Oculocutaneous Albinism and Hermansky‐Pudlak Syndrome
    Richard A. King, C. Gail Summers · 2010 · Wiley eBooks
  57. Disorders of Hypopigmentation and Depigmentation
    Ife J. Rodney, Rebat M. Halder · 2012 · Springer eBooks
  58. Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population
    Christine Zühlke, Carolin Criée, Timo Gemoll, Thomas Schillinger, Barbara Käsmann‐Kellner · 2007 · Pigment Cell Research
  59. Distribution of a missense mutation (rs525805167) within the SLC45A2 gene associated with climatic conditions in Chinese cattle
    Cong Ding, Junlin Ma, Huixuan Yan, Yizhu Meng, Xinglei Qi, Kaixing Qu, Fuqiang Li, Jicai Zhang, Basang Zhuzha, Suolang Quji et al. · 2022 · Gene
  60. Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1
    Shuhan Si, Xueyuan Jia, Lidan Xu, Qian Qin, Jie Wu, Wei Ji, Kexian Dong, Xuelong Zhang, Lin Cao, Hao Wang et al. · 2023 · Pigment Cell & Melanoma Research
  61. Identification of Candidate Genes of Familial Multiple Idiopathic Cervical Root Resorption
    Koichiro Muromachi, Kazuyoshi Hosomichi, Heetae Park, Tetsutaro Yamaguchi, Nobuyuki Tani‐Ishii · 2023 · Journal of Endodontics
  62. Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case
    Danyue He, Xiaonan Liu, Tianyu Yao, Jie Hu, Xiaodong Zheng, Lili Tang, Xing Fan · 2024 · Molecular Genetics & Genomic Medicine
  63. Whole exome sequencing identifies a novel pathogenic variation [p.(Gly194valfs*7)] in SLC45A2 in the homozygous state in multiple members of a family with oculocutaneous albinism in southern India
    S.S. Lewis, Katta M. Girisha · 2019 · Clinical and Experimental Dermatology
  64. Oculocutaneous Albinism in Pakistan: A Review
    Sajjad Ali Shah, Anwar Saeed, Muhammad Irshad, Masroor Ellahi Babar, Tanveer Hussain, Abdul Wajid, Nazakat Hussain Memon, Muhammad Idrees · 2018 · Journal of Cancer Science & Therapy
  65. Congenital and Hereditary Disorders of the Skin
    Timothy P. Monahan, BERNARD ALLAN COHEN, Elaine C. Siegfried · 2005 · Avery's Diseases of the Newborn
  66. Disorders of pigmentation
    Eduardo J. Calonje, Thomas Brenn, Alexander J. Lazar · 2012 · Elsevier eBooks
  67. Medaka Spontaneous Mutants for Body Coloration
    Shoji Fukamachi · 2011 · Springer eBooks
  68. Genes in the Aetiology of Oculocutaneous Albinism in Sub-Saharan Africa and a Possible Role in Tuberculosis Susceptibility
    Robyn A. Kerr · 2008 · University of the Witwatersrand, Johannesburg Institutional Repository on DSpace (University of the Witwatersrand, Johannesburg)
  69. Albinism: Genetics
    William S. Oetting, David R. Adams · 2018 · Encyclopedia of Life Sciences
  70. Amino Acid Metabolism of the Skin: Control by Specific Enzymes and Contribution to Protective Functions
    Corina Dörner, Julia Steinbinder, Attila Placido Sachslehner, Supawadee Sukseree, Leopold Eckhart · 2025 · Metabolites
  71. Eye pigmentation–based in-ovo chicken sexing via precision breeding
    Yi-Chen Chen, Shuo-wen Hsu, Eisuke Shimokita, Tatsuya Takemoto · 2026 · Frontiers in Bioengineering and Biotechnology
  72. Oculocutaneous Albinism-A review
    Qurban Ali Shah · 2022 · Pure and Applied Biology
  73. Two High-Quality Cygnus Genome Assemblies Reveal Genomic Variations Associated with Plumage Color
    Yuqing Chong, Xiaolong Tu, Ying Lu, Zhendong Gao, Xiaoming He, Jieyun Hong, Jiao Wu, Dong‐Dong Wu, Dongmei Xi, Weidong Deng · 2023 · International Journal of Molecular Sciences
  74. Differentiation between wild type and heterozygous albino ball pythons (Python regius) by PCR and qPCR
    W. Kokiattrakool, N. Saengcharatuaong, J. Luapan, Watchara Sroykham, Ratchanok Kumsiri, Panan Kanchanaphum · 2024 · Brazilian Journal of Biology
  75. A 3‐bp deletion in the SLC45A2 gene is associated with loss of fleece pigmentation in black‐fleeced Suffolk sheep
    Rick G. Tearle, Tong Chen, F. D. Brien · 2024 · Animal Genetics
  76. Disorders of Hypopigmentation
    Julie V. Schaffer, Jean L. Bolognia · 2007 · Humana Press eBooks
  77. Molecular Diagnosis of Genodermatoses
    Vesarat Wessagowit · 2012 · Methods in molecular biology
  78. Research Implications of Pigment Biology in Zebrafish
    Stephen Carl Ekker, David M. Parichy, Keith C. Cheng · 2008 · Zebrafish
  79. Decreasing values, from the North of West Europe to North Africa, of 374F allele frequencies in the skin pigmentation gene SLC45A2: An analysis
    Gérard Lucotte, Isao Yuasasup · 2011 · Journal of Evolutionary Biology Research
  80. TRANSPORTERS
    SPH Alexander, Alistair A. Mathie, JA Peters · 2011 · British Journal of Pharmacology
  81. Albinism
    C. Gail Summers · 2017 · Elsevier eBooks
  82. A case of oculocutaneous albinism type 4: aberrant expression of SLC 45A2 transcript with exon skipping
    Tokimasa Hida, Masae Okura, Toju Tanaka, Toshiharu Yamashita · 2014 · The Journal of Dermatology
  83. Molecular Regulation of Melanin Formation: Melanosome Transporter Proteins
    Murray H. Brilliant · 2006 · Wiley eBooks
  84. ALBINISM
    C. Gail Summers, David R. Adams · 2020 · Wiley eBooks
  85. Unusual Autosomal Dominant Inheritance of Oculocutaneous Albinism Type 4 ( OCA ‐4): Clinical and Functional Features From A Chinese Family
    Yingzi Zhang, Teng Liu, Qingsong Yang, Xuyun Hu, Wei Li, Aihua Wei · 2025 · Pigment Cell & Melanoma Research
  86. Histopathological Characteristics and Multi-Omics Analysis of Ocular Pigmentation Defects in Albino Percocypris pingi
    Senyue Liu, Xiaoyun Wu, Qiaolin Zou, Jiansheng Lai, Yong‐Qiang Deng, Feng Yang, Cheng-Yan Mou, Mingjiang Song, Pengcheng Li, Jun Cheng Du et al. · 2025 · Cells
  87. Reduced gene expression and missense mutations in the transporter protein SLC45A2 in a hypopigmented Egyptian rousette fruit bat ( Rousettus aegyptiacus )
    Kalina T. J. Davies, Rosie Drinkwater, Liliana M. Dávalos, Nicolas Nesi, Mads F. Bertelsen, Stephen J. Rossiter · 2025 · Journal of Heredity
  88. Fisiología del sistema pigmentario
    Frédéric Mantoux, J.‐P. Ortonne · 2003 · EMC - Dermatología
  89. Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family.
    Hamid Pour‐Jafari, Abbas Zamanian, B Pour-Jafari · 2010 · Europe PMC (PubMed Central)
  90. A Novel Deletion Mutation of the TYR Gene in a Patient With Oculocutaneous Albinism Type 1A
    Farah Talebi, Farideh Ghanbari Mardasi, Javad Mohammadi Asl · 2016 · Gene Cell and Tissue
  91. Making the invisible visible
    Maurice A. M. Van Steensel · 2016 · Seminars in Cell and Developmental Biology
  92. Genotype-based association models of complex diseases to detect gene-gene and gene-environment interactions
    Iryna V. Lobach, Ruzong Fan, Prashiela Manga · 2014 · Statistics and Its Interface
  93. Identification of Two Novel Mutations in the SLC45A2 Gene in a Hungarian Pedigree Affected by Unusual OCA Type 4
    Tóth L, Beáta Fábos · 2015 · Hereditary Genetics
  94. Biología del melanocito
    Julie V. Schaffer · 2006 · Elsevier eBooks
  95. Melanoma Genetics: From Susceptibility to Progression
    Guilherme Francisco, Priscila Daniele Ramos Cirilo, Fernanda Toledo, Tharcísio Citrângulo Tortelli, Roger J. Chammas · 2013 · InTech eBooks
  96. Interaction of mammalian and plant H+/sucrose transporters with 14-3-3 proteins
    Olga Vitavska, Rabea Bartölke, Katharina Tabke, Jürgen J. Heinisch, Helmut Wieczorek · 2018 · Biochemical Journal
  97. Taxa elevada de albinismo oculocutâneo no estado da Bahia, região nordeste do Brasil
    Lília Maria de Azevedo Moreira, Vinícius Magalhães Borges, Matheus Augusto Lima Pinheiro, Maria Helena Machado Santa Cecília · 2020 · Jornal Interdisciplinar de Biociências
  98. Disorders of Hypopigmentation and Depigmentation
    Trisha Patel, Ife J. Rodney, Rebat M. Halder · 2017 · Springer eBooks
  99. Albinism and H ermansky‐ P udlak Syndrome
    Richard A. King, C. Gail Summers · 2005 · Wiley eBooks
  100. Human melanoma antigens recognized by CD8 T cells
    Yutaka Kawakami · 2003 · CRC Press eBooks