Associated Papers
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.
Okamura K et al.
The Journal of Dermatology, 2025
Current landscape of Oculocutaneous Albinism in Japan.
Okamura K et al.
Pigment Cell & Melanoma Research, 2021
Speckled lentiginous nevus in a patient with Hermansky-Pudlak syndrome type 1.
Mai S et al.
The Journal of Dermatology, 2020
NGS-based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism.
Okamura K et al.
Pigment Cell & Melanoma Research, 2019
Systematic review of drug effects in humans and models with surfactant-processing disease.
Klay D et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2018
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.
Wei A et al.
Pigment Cell & Melanoma Research, 2016
An intractable case of Hermansky-Pudlak syndrome.
Kanazu M et al.
Internal Medicine (tokyo, Japan), 2014
A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).
Carmona-Rivera C et al.
Biochimica Et Biophysica Acta, 2013
Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.
Wei AH et al.
Pigment Cell & Melanoma Research, 2013
Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.
Kloer DP et al.
The Journal of Biological Chemistry, 2010
The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene.
Wei A et al.
Journal of Dermatological Science, 2009
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
Wei ML
Pigment Cell Research, 2006
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.
Ito S et al.
The Journal of Investigative Dermatology, 2005
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