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

Cited by (350)

Items 301–350 of 350

  1. Human melanoma antigens recognized by CD8+ T cells
    Yutaka Kawakami · 2003 · CRC Press eBooks
  2. Mutation in SLC45A2 leads to loss of melanin in parrot feathers
    Shatadru Ghosh Roy, Anna Bakhrat, Moty Abdu, Sandra Afonso, Paulo Pereira, Miguel Carneiro, Uri Abdu · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  3. Genetic Studies of Pigmentation in Chicken
    Ulrika Gunnarsson · 2009 · Uppsala University Publications (Uppsala University)
  4. Trastornos con hipopigmentación
    Yuin‐Chew Chan, Yong‐Kwang Tay · 2009 · Elsevier eBooks
  5. Cellular fate and functions of glucosylceramide
    Jasja Wolthoorn · 2006 · Utrecht University Repository (Utrecht University)
  6. Apoptosis and differentiation in presumptive neural retina and presumptive retinal pigmented epithelium during early eye development in toad, Bufo raddei strauch
    Han Wu, Yin Han, Ze-Hui Wang · 2012 · Russian Journal of Developmental Biology
  7. Snowflake, albinism and conservation
    L. Montoliu · 2013 · Pigment Cell & Melanoma Research
  8. Of white tigers and solute carriers
    Alessandro Mongera, Christopher M. Dooley · 2013 · Pigment Cell & Melanoma Research
  9. More genetic studies on the inference of ancestry and morphological traits: response from the authors to the letter from Salas et al.
    Isao Yuasa, Kazuo Umetsu · 2005 · International Journal of Legal Medicine
  10. MOLECULAR GENETIC ANALYSIS OF SELECTED NEUROLOGICAL INHERITED DISEASES
    Bibi Shamim Saleha · 2012
  11. Hereditary diseases as causes of blindness in Newfoundland: a cohort study with long term follow up
    Colin Blair Penney · 2013 · Memorial University Research Repository (Memorial University)
  12. Great ape genomics : diversity and evolution
    P. Brox Martínez, Javier Javier · 2014 · LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)
  13. Ethno-genetics of AIM1 gene relating to Human Skin Pigmentation among Six Indigenous Nationalities in Nepal
    Nanda Bahadur Singh · 2015 · Journal of Institute of Science and Technology
  14. Physiologie du système pigmentaire
    Frédéric Mantoux, Jean Paul Ortonne · 2006 · EMC - Dermatologie
  15. The case of MITF in melanocytes
    Carmit Levy, David E. Fisher · 2011
  16. The Biology of the Melanocyte
    Julie V. Schaffer, Jean L. Bolognia · 2011 · Elsevier eBooks
  17. Reevaluation of Single Nucleotide Polymorphism of OCA2 in Koreans
    Ann‐Yae Na, Dae-Kwang Kim · 2016 · Korean Journal of Physical Anthropology
  18. Oculocutaneous albinism and the oral manifestation in a 14-year-old boy - A case report and review of literature
    Deepak Sharma, Pravesh Kumar Jhingta, Vinay Bhardwaj, Deepali Rasila, Nishant Negi, Sanjeev Vaid · 2017 · Journal of Dental and Allied Sciences
  19. Computational analysis of deleterious SNPs of SLC45A2 involved in oculocutaneous albinism type 4
    Velanganni Selvaraj, Hemagowri Venkatasubramanian, Arkaprava Roychaudhury, Kirankumar Santhakumar · 2018 · Gene Reports
  20. Diversidade genética das regiões regulatórias e codificantes dos genes SLC45A2 e TYR em amostra da população brasileira
    N. C. A. Fracasso · 2018 · Digital Library of Theses and Dissertations (Universidade de São Paulo)
  21. GENETIC BASIS OF MELANIN PIGMENTATION AND SEXUAL DICHROMATISM IN DOMESTIC PIGEONS
    Shreyas Krishnan · 2016
  22. The Almond plumage color pattern is associated with eye pigmentation defects in the domestic pigeon ( Columba livia )
    Rebecca Bruders, Max Sidesinger, Michael D. Shapiro · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  23. Pigmentary Development of East Asian Skin
    Kin Fon Leong · 2015 · Springer eBooks
  24. Hereditary hypo/de-pigmented dermatoses: An overview
    Virendra Nath Sehgal, Govind Srivastava · 2008 · International Journal of Dermatology
  25. Lexikalischer Teil
    Regine Witköwski, Otto Prokop, Eva Ullrich, Gundula Thiel · 2003 · Springer eBooks
  26. References
    2010 · Wiley eBooks
  27. References
    2019 · Wiley eBooks
  28. Albinism: Genetics
    William S. Oetting · 2011 · Encyclopedia of Life Sciences
  29. An Unusual Phenotype in Dutch Patients With Oculocutaneous Albinism Type 4: Evident Hypopigmentation Without Other Ocular Deficits.
    Charlotte C. Kruijt, Nicoline Elisabeth Schalij-Delfos, Gerard C. de Wit, Ralph J. Florijn, Maria Michielde van Genderen · 2021 · Research Square
  30. Albinism
    Fanny Morice‐Picard, Alain Taı̈eb · 2019 · Harper's Textbook of Pediatric Dermatology
  31. Albinism
    Reecha Sachdeva, Lisa S. Abrams, Elias I. Traboulsi · 2012
  32. Hypopigmentation Disorders
    Yuin‐Chew Chan, Yong‐Kwang Tay · 2008 · Elsevier eBooks
  33. Pigmentstörungen
    Uta B. Hofmann · 2006 · Springer eBooks
  34. Genetic and environmental risk factors, informative subtypes and putative endophenotypes in major depressive disorder
    Beáta Fábos · 2018
  35. Identification of the Membrane-Associated Transporter Protein (MATP) Gene Polymorphism as Candidate Mutation for Albinism in Japanese Quail
    Laksita Haniifah Pratiwi, Ratih Dewanti, Muhammad Cahyadi · 2023 · Jurnal Ilmu-Ilmu Peternakan
  36. Genetic Disorders of Pigmentation
    Fanny Morice‐Picard, Alain Taı̈eb · 2024
  37. Neuropsychiatric and social deficits associated with albinism
    Ana-Maria Dănilă, Alin Stelian Ciobica, Manuela Pădurariu · 2024 · Bulletin of Integrative Psychiatry
  38. Abnormalities of Pigmentation
    Reed E. Pyeritz · 2024 · Elsevier eBooks
  39. A mutation in the SLC45A2 gene causing the cremello phenotype in a Turkish wild horse
    Özlem Gücüyener Hacan, K. Çelikeloğlu, Metin Erdoğan · 2025 · Ankara Üniversitesi Veteriner Fakültesi Dergisi
  40. Hypopigmentation Disorders
    Yuin‐Chew Chan, Yong‐Kwang Tay · 2015 · Elsevier eBooks
  41. Analysis Of The Mouse p100H Mutation: Implications For Two Disease Related Genes: P and Sox6
    Zanhua Yi · 2005 · UA Campus Repository (The University of Arizona)
  42. Membrane associated transporter protein gene (SLC45A2) and the genetic basis of normal human pigmentation variation
    Justin Graf · 2008
  43. Sugar transporter SLC45 gene family members: roles in malignant tumors and research progress
    Yuance Xu, Danting Sun, Chao Wang, Qin Yao · 2026 · Molecular Biology Reports
  44. A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling
    Dongheon Surl, Tae‐Ik Choi, Ji-Won Park, Dilan Wellalage Don, Tae Young Kim, Mervyn George Thomas, Jong-Su Park, Xiangyun Wei, Young‐Ki Bae, Jinu Han et al. · 2026 · Translational Vision Science & Technology
  45. Common dominant-negative spectrum of SLC45A2 mutations in OCA4 defined by endoplasmic reticulum retention
    Hirotaro Urushibata, Nobuyuki Shimizu, Hiroyuki Yatsuka, Yasuhiro Soga, Masanori Inoue, Ryoko Oki, Toshiaki Kubota, Atsunobu Takeda, Reiko Hanada, Kenji Ihara et al. · 2026 · Biochemical and Biophysical Research Communications
  46. Recherche et caractérisation de nouveaux gènes impliqués dans l’albinisme
    Perrine Pennamen · 2021
  47. Contribution au diagnostic de l’albinisme : étude de variants d'épissage, recherche de variants régulateurs et étude du spectre génotypique au Mali
    Modibo Diallo · 2024 · theses.fr (ABES)
  48. Molecular insights into foveal hypoplasia: development, genetics, mechanisms, and models
    Kevin Gregory-Evans, Cheryl Y. Gregory · 2025 · Molecular vision
  49. Toward Next‐Generation Teratology: Understanding Developmental Vulnerability Through Evolutionary and Comparative Genomics
    Tetsuo Kon · 2026 · Congenital Anomalies
  50. Predictive Modeling for Complex Traits: Normal Human Pigmentation Variation
    Robert K. Valenzuela · 2011 · UA Campus Repository (The University of Arizona)