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Pigment Cell & Melanoma Research|September 27, 2020
Five novel mutations in SASH1 contribute to lentiginous phenotypes in Japanese familiesYuta Araki, Ken Okamura, Toru Saito, et al.
Human Molecular Genetics|May 14, 2013
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos diseaseMichihiro Kono, Kazumitsu Sugiura, Mutsumi Suganuma, et al.
Pigment Cell Research|September 16, 2005
OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and KoreanKatsuhiko Inagaki, Tamio Suzuki, Shiro Ito, et al.
The Journal of Dermatology|September 12, 2012
Pediatric case report: clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 geneTomoko Oshimo, Kazuyoshi Fukai, Yuko Abe, et al.
Pigment Cell & Melanoma Research|February 24, 2025
Synonymous but Significant: New Findings of Pathological Variants in Hermansky-Pudlak SyndromeJunnosuke Kawaguchi, Ken Okamura, Toru Saito, et al.
Pigment Cell & Melanoma Research|March 5, 2024
Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITFKohei Yamamoto, Ken Okamura, Kazumasa Wakamatsu, et al.
Pigment Cell & Melanoma Research|December 6, 2021
Impact of a SLC24A5 variant on the retinal pigment epithelium of a Japanese patient with oculocutaneous albinism type 6Toru Saito, Ken Okamura, Rika Kosaki, et al.
American Journal of Medical Genetics. Part A|July 18, 2009
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2Takayuki Konno, Yuko Abe, Masakazu Kawaguchi, et al.
Pigment Cell & Melanoma Research|June 4, 2014
Rhododendrol, a depigmentation-inducing phenolic compound, exerts melanocyte cytotoxicity via a tyrosinase-dependent mechanismMinoru Sasaki, Masatoshi Kondo, Kohji Sato, et al.
Internal Medicine (Tokyo, Japan)|November 18, 2014
An intractable case of Hermansky-Pudlak syndromeMasaki Kanazu, Toru Arai, Chikatoshi Sugimoto, et al.
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