Associated Papers
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.
Okamura K et al.
The Journal of Dermatology, 2025
Genetic mutations disrupt the coordinated mode of tyrosinase's intra-melanosomal domain.
Toay S et al.
Protein Science : a Publication of the Protein Society, 2025
Genetic mutations disrupt the coordinated mode of tyrosinase intra-melanosomal domain.
Toay S et al.
Biorxiv : the Preprint Server for Biology, 2025
Current landscape of Oculocutaneous Albinism in Japan.
Okamura K et al.
Pigment Cell & Melanoma Research, 2021
Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.
Bibi N et al.
Frontiers in Genetics, 2020
The Molecular Basis of Chemical Chaperone Therapy for Oculocutaneous Albinism Type 1A.
Teramae A et al.
The Journal of Investigative Dermatology, 2019
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
Shahzad M et al.
Scientific Reports, 2017
Mutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6.
Kamaraj B et al.
Journal of Biomolecular Structure & Dynamics, 2015
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
Ghodsinejad Kalahroudi V et al.
Plos One, 2014
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.
Jaworek TJ et al.
Orphanet Journal of Rare Diseases, 2012
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism.
Forshew T et al.
Clinical Genetics, 2005
Polymorphic sequences of the tyrosinase gene: allele analysis on 16 OCA1 patients in Japan indicate that three polymorphic sequences in the tyrosinase gene promoter could be powerful markers for indirect gene diagnosis.
Tanita M et al.
Journal of Human Genetics, 2002
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.
Oetting WS
Pigment Cell Research, 2000
Electron microscopic DOPA reaction test for oculocutaneous albinism.
Takizawa Y et al.
Archives of Dermatological Research, 2000
Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan.
Tomita Y et al.
Pigment Cell Research, 2000
Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper.
Matsunaga J et al.
Dermatology (basel, Switzerland), 1998
R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism.
Matsunaga J et al.
Journal of Dermatological Science, 1996
Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1).
Oetting WS et al.
Pigment Cell Research, 1994
Molecular genetics of oculocutaneous albinism.
Spritz RA
Human Molecular Genetics, 1994
Molecular genetics of oculocutaneous albinism.
Spritz RA
Seminars in Dermatology, 1993