Associated Papers
Comprehensive Profiling of Genetic and Nongenetic Factors that Influence Skin Traits in Asian Women from 4 Countries.
Moon H et al.
The Journal of Investigative Dermatology, 2025
Polygenic Risk Score Analysis of 37 SNPs Associated with Melanoma Risk in Colombian Population.
Tovar-Parra D et al.
International Journal of Molecular Sciences, 2025
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
Two High-Quality Cygnus Genome Assemblies Reveal Genomic Variations Associated with Plumage Color.
Chong Y et al.
International Journal of Molecular Sciences, 2023
Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population.
Ang KC et al.
Elife, 2023
Large-scale genome sequencing redefines the genetic footprints of high-altitude adaptation in Tibetans.
Zheng W et al.
Genome Biology, 2023
A Late Pleistocene human genome from Southwest China.
Zhang X et al.
Current Biology : Cb, 2022
A Genome-Wide Scan on Individual Typology Angle Found Variants at SLC24A2 Associated with Skin Color Variation in Chinese Populations.
Wang F et al.
The Journal of Investigative Dermatology, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.
Ma L et al.
Frontiers in Genetics, 2021
The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.
Kidd KK et al.
Scientific Reports, 2020
Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.
Pośpiech E et al.
Bmc Genomics, 2020
NGS-based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism.
Okamura K et al.
Pigment Cell & Melanoma Research, 2019
Shades of complexity: New perspectives on the evolution and genetic architecture of human skin.
Quillen EE et al.
American Journal of Physical Anthropology, 2019
Variants at the OCA2/HERC2 locus affect time to first cutaneous squamous cell carcinoma in solid organ transplant recipients collected using two different study designs.
Wei L et al.
The British Journal of Dermatology, 2017
Identifying signatures of positive selection in pigmentation genes in two South Asian populations.
Jonnalagadda M et al.
American Journal of Human Biology : the Official Journal of the Human Biology Council, 2017
Skin Pigmentation Genetics for the Clinic.
Ainger SA et al.
Dermatology (basel, Switzerland), 2017
Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry.
Rawofi L et al.
Peerj, 2017
Association of genetic variants with skin pigmentation phenotype among populations of west Maharashtra, India.
Jonnalagadda M et al.
American Journal of Human Biology : the Official Journal of the Human Biology Council, 2016
Importance of nonsynonymous OCA2 variants in human eye color prediction.
Andersen JD et al.
Molecular Genetics & Genomic Medicine, 2016
A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution.
Yang Z et al.
Molecular Biology and Evolution, 2016
Estimating the Ages of Selection Signals from Different Epochs in Human History.
Nakagome S et al.
Molecular Biology and Evolution, 2016
Iris pigmentation as a quantitative trait: variation in populations of European, East Asian and South Asian ancestry and association with candidate gene polymorphisms.
Edwards M et al.
Pigment Cell & Melanoma Research, 2016
Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations.
Okamura K et al.
Journal of Dermatological Science, 2016
Deep History of East Asian Populations Revealed Through Genetic Analysis of the Ainu.
Jeong C et al.
Genetics, 2016
Variants in melanogenesis-related genes associate with skin cancer risk among Japanese populations.
Yoshizawa J et al.
The Journal of Dermatology, 2014
Computational screening of disease-associated mutations in OCA2 gene.
Kamaraj B et al.
Cell Biochemistry and Biophysics, 2014
Implications of the admixture process in skin color molecular assessment.
Cerqueira CC et al.
Plos One, 2014
Association of melanogenesis genes with skin color variation among Japanese females.
Abe Y et al.
Journal of Dermatological Science, 2013
A global view of the OCA2-HERC2 region and pigmentation.
Donnelly MP et al.
Human Genetics, 2012
Distribution of OCA2∗481Thr and OCA2∗615Arg, associated with hypopigmentation, in several additional populations.
Yuasa I et al.
Legal Medicine (tokyo, Japan), 2011
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.
Preising MN et al.
Molecular Vision, 2011
Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.
Edwards M et al.
Plos Genetics, 2010
Variants of the melanocortin 1 receptor gene (MC1R) and P gene as indicators of the population origin of an individual.
Masui S et al.
International Journal of Legal Medicine, 2009
Molecular genetics of human pigmentation diversity.
Sturm RA
Human Molecular Genetics, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
SLC45A2: a novel malignant melanoma-associated gene.
Fernandez LP et al.
Human Mutation, 2008
Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2).
Wattanasirichaigoon D et al.
Journal of Dermatological Science, 2008
Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes.
Yuasa I et al.
Biochemical Genetics, 2007
Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.
Suzuki T et al.
The Journal of Investigative Dermatology, 2003
P gene as an inherited biomarker of human eye color.
Rebbeck TR et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2002
Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.
Spritz RA et al.
American Journal of Medical Genetics, 1997
Association study confirms the role of two OCA2 polymorphisms in normal skin pigmentation variation in East Asian populations.
Eaton K et al.
American Journal of Human Biology : the Official Journal of the Human Biology Council, 0