Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9-Reference-Cited by-同舟云学术

Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9

Published:2017-11-02 Issue:2 Volume:31 Page:267-276
ISSN:1755-1471
Container-title:Pigment Cell & Melanoma Research
language:en
Short-container-title:Pigment Cell Melanoma Res.

Author:

Okamura Ken¹^ORCID,Abe Yuko¹,Araki Yuta¹,Wakamatsu Kazumasa²^ORCID,Seishima Mariko³,Umetsu Takafumi⁴,Kato Atsushi⁵,Kawaguchi Masakazu¹,Hayashi Masahiro¹,Hozumi Yutaka¹,Suzuki Tamio¹

Affiliation:

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

2. Department of Chemistry; School of Health Sciences; Fujita Health University; Toyoake Japan

3. Department of Dermatology; Graduate School of Medicine; Gifu University; Gifu Japan

4. Department of Pulmonary Medicine and Clinical Immunology; Dokkyo Medical University School of Medicine; Mibu Japan

5. Division of Hematology; Tokyo Kyosai Hospital; Tokyo Japan

Funder

Japan Society for the Promotion of Science

Kao Melanin Workshop

Publisher

Wiley

Subject

Dermatology,General Biochemistry, Genetics and Molecular Biology,Oncology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pcmr.12662/fullpdf

Reference43 articles.

1. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome;Ammann;Blood,2016

2. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico;Anikster;Nature Genetics,2001

3. Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome;Badolato;Blood,2012

4. Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS;Bryan;Molecular Genetics and Metabolism,2017

5. A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8;Cullinane;Pigment Cell & Melanoma Research,2012

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