Impact of a SLC24A5 variant on the retinal pigment epithelium of a Japanese patient with oculocutaneous albinism type 6-Reference-Cited by-同舟云学术

Impact of a SLC24A5 variant on the retinal pigment epithelium of a Japanese patient with oculocutaneous albinism type 6

Published:2021-12-27 Issue: Volume: Page:
ISSN:1755-1471
Container-title:Pigment Cell & Melanoma Research
language:en
Short-container-title:Pigment Cell Melanoma Res

Author:

Saito Toru¹^ORCID,Okamura Ken¹^ORCID,Kosaki Rika²^ORCID,Wakamatsu Kazumasa³^ORCID,Ito Shosuke³^ORCID,Nakajima Osamu⁴^ORCID,Yamashita Hidetoshi⁵,Hozumi Yutaka¹,Suzuki Tamio¹^ORCID

Affiliation:

1. Department of Dermatology Yamagata University Faculty of Medicine Yamagata Japan

2. Division of Medical Genetics Department of Medical Subspecialties National Center for Child Health and Development Tokyo Japan

3. Institute for Melanin Chemistry Fujita Health University Toyoake Japan

4. Research Center for Molecular Genetics Institute for Promotion of Medical Science Research Yamagata University Faculty of Medicine Yamagata Japan

5. Department of Ophthalmology Yssamagata University Faculty of Medicine Yamagata Japan

Funder

Japan Society for the Promotion of Science

Ministry of Health, Labour and Welfare

Kao Corporation

Shiseido Group

Publisher

Wiley

Subject

Dermatology,General Biochemistry, Genetics and Molecular Biology,Oncology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pcmr.13024

Reference25 articles.

1. Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana;Bertolotti A.;Pigment Cell and Melanoma Research,2016

2. Melanins and melanogenesis: Methods, standards, protocols;d’Ischia M.;Pigment Cell and Melanoma Research,2013

3. SLC24A5 encodes a trans‐Golgi network protein with potassium‐dependent sodium‐calcium exchange activity that regulates human epidermal melanogenesis;Ginger R. S.;Journal of Biological Chemistry,2008

4. Electroporation enables the efficient mRNA delivery into the mouse zygotes and facilitates CRISPR/Cas9‐based genome editing;Hashimoto M.;Scientific Reports,2015

5. Usefulness of alkaline hydrogen peroxide oxidation to analyze eumelanin and pheomelanin in various tissue samples: Application to chemical analysis of human hair melanins;Ito S.;Pigment Cell and Melanoma Research,2011

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