Associated Papers
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
Current landscape of Oculocutaneous Albinism in Japan.
Okamura K et al.
Pigment Cell & Melanoma Research, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
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
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Rayner JE et al.
Plos One, 2020
A 4-bp deletion promoter variant (rs984225803) is associated with mild OCA4 among Japanese patients.
Okamura K et al.
Pigment Cell & Melanoma Research, 2019
Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing.
Qiu B et al.
Genetic Testing and Molecular Biomarkers, 2018
Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil.
Fracasso NCA et al.
Legal Medicine (tokyo, Japan), 2017
Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4.
Ozaki S et al.
Acta Dermato-venereologica, 2017
Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)-A Molecular Dynamics Approach.
Kamaraj B et al.
Journal of Cellular Biochemistry, 2016
Variants in melanogenesis-related genes associate with skin cancer risk among Japanese populations.
Yoshizawa J et al.
The Journal of Dermatology, 2014
Association of melanogenesis genes with skin color variation among Japanese females.
Abe Y et al.
Journal of Dermatological Science, 2013
Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes.
Inagaki K et al.
Pigment Cell Research, 2006
MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids.
Yuasa I et al.
International Journal of Legal Medicine, 2004
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.
Inagaki K et al.
American Journal of Human Genetics, 2004