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Human Molecular Genetics|March 26, 2002
The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle traffickingQing Zhang, Wei Li, Edward K Novak, et al.Proceedings of the National Academy of Sciences of the United States of America|January 23, 2003
The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnationTamio Suzuki, Naoki Oiso, Rashi Gautam, et al.Journal of Dermatological Science|February 14, 2015
An immune pathological and ultrastructural skin analysis for rhododenol-induced leukoderma patientsAtsushi Tanemura, Lingli Yang, Fei Yang, et al.Pigment Cell & Melanoma Research|May 30, 2019
NGS-based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinismKen Okamura, Masahiro Hayashi, Yuko Abe, et al.The Keio Journal of Medicine|June 28, 2023
Recent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in JapanMasashi Akiyama, Takuya Takeichi, Shigaku Ikeda, et al.The Journal of Investigative Dermatology|September 28, 2005
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant proteinShiro Ito, Tamio Suzuki, Katsuhiko Inagaki, et al.The Journal of Investigative Dermatology|August 19, 2006
Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditariaNoriyuki Suzuki, Tamio Suzuki, Katsuhiko Inagaki, et al.The Journal of Dermatology|December 11, 2019
Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2Takuro Nishikawa, Ken Okamura, Mizuki Moriyama, et al.Pigment Cell Research|September 13, 2006
Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypesKatsuhiko Inagaki, Tamio Suzuki, Shiro Ito, et al.The Journal of Dermatology|March 13, 2014
Variants in melanogenesis-related genes associate with skin cancer risk among Japanese populationsJunko Yoshizawa, Yuko Abe, Naoki Oiso, et al.Pageof 12