Associated Papers
Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.
Iengar P et al.
Computational Biology and Chemistry, 2026
Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.
Ionova S et al.
Pigment Cell & Melanoma Research, 2026
Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants.
Okamura K et al.
Pigment Cell & Melanoma Research, 2025
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.
Okamura K et al.
The Journal of Dermatology, 2025
Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.
Manga P et al.
Annals of Human Genetics, 2025
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
Amelanotic melanoma in oculocutaneous albinism type 4 detected using violet-light dermoscopy.
Kameda E et al.
The Journal of Dermatology, 2024
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case.
He D et al.
Molecular Genetics & Genomic Medicine, 2024
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
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
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 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
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
Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4.
Ozaki S et al.
Acta Dermato-venereologica, 2017
A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.
Oki R et al.
Investigative Ophthalmology & Visual Science, 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
Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations.
Okamura K et al.
Journal of Dermatological Science, 2016
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.
Ko JM et al.
Molecular Medicine Reports, 2012
Molecular analysis of Korean patients with oculocutaneous albinism.
Park SH et al.
Japanese Journal of Ophthalmology, 2012
Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene.
Sengupta M et al.
The British Journal of Dermatology, 2010
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
Wei A et al.
The Journal of Investigative Dermatology, 2010
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2.
Konno T et al.
American Journal of Medical Genetics. Part A, 2009
Oculocutaneous albinism in Suncus murinus: establishment of a strain and identification of its responsible gene.
Tsuboi K et al.
Experimental Animals, 2009
A Chinese case of oculocutaneous albinism type 4 with two novel mutations.
Li H et al.
International Journal of Dermatology, 2008
SLC45A2 variations in Indian oculocutaneous albinism patients.
Sengupta M et al.
Molecular Vision, 2007
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.
Flintoff K et al.
Human Genetics, 2007
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
Evidence for recent positive selection at the human AIM1 locus in a European population.
Soejima M et al.
Molecular Biology and Evolution, 2006
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.
Chan AY et al.
The British Journal of Dermatology, 2005
OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean.
Inagaki K et al.
Pigment Cell Research, 2005
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.
Suzuki T et al.
The British Journal of Dermatology, 2005
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