Associated Papers
Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.
Ionova S et al.
Pigment Cell & Melanoma Research, 2026
Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.
Fiasconaro CA et al.
Diseases (basel, Switzerland), 2025
Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India.
Dutta T et al.
Molecular Biology Reports, 2024
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
Forensic DNA Phenotyping: Genes and Genetic Variants for Eye Color Prediction.
Brancato D et al.
Genes, 2023
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Rayner JE et al.
Plos One, 2020
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
A 4-bp deletion promoter variant (rs984225803) is associated with mild OCA4 among Japanese patients.
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
Mutational analysis of a Chinese family with oculocutaneous albinism type 2.
Wang X et al.
Oncotarget, 2017
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
Mutation analysis of a Chinese family with oculocutaneous albinism.
Wang X et al.
Oncotarget, 2016
The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum.
Gerhard GS et al.
Bmc Medical Genomics, 2016
Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity.
Bin BH et al.
Plos One, 2015
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Variants in melanogenesis-related genes associate with skin cancer risk among Japanese populations.
Yoshizawa J et al.
The Journal of Dermatology, 2014
The interplay between natural selection and susceptibility to melanoma on allele 374F of SLC45A2 gene in a South European population.
López S et al.
Plos One, 2014
Near fixation of 374l allele frequencies of the skin pigmentation gene SLC45A2 in Africa.
Lucotte G et al.
Biochemical Genetics, 2013
Slc45a2 and V-ATPase are regulators of melanosomal pH homeostasis in zebrafish, providing a mechanism for human pigment evolution and disease.
Dooley CM et al.
Pigment Cell & Melanoma Research, 2013
Association of melanogenesis genes with skin color variation among Japanese females.
Abe Y et al.
Journal of Dermatological Science, 2013
MC1R, SLC45A2 and TYR genetic variants involved in melanoma susceptibility in southern European populations: results from a meta-analysis.
Ibarrola-Villava M et al.
European Journal of Cancer (oxford, England : 1990), 2012
Development of lentigines in German and Japanese women correlates with variants in the SLC45A2 gene.
Vierkötter A et al.
The Journal of Investigative Dermatology, 2012
Functional assessment of human coding mutations affecting skin pigmentation using zebrafish.
Tsetskhladze ZR et al.
Plos One, 2012
Molecular and clinical characterization of albinism in a large cohort of Italian patients.
Gargiulo A et al.
Investigative Ophthalmology & Visual Science, 2011
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 decreasing gradient of 374F allele frequencies in the skin pigmentation gene SLC45A2, from the north of West Europe to North Africa.
Lucotte G et al.
Biochemical Genetics, 2010
DNA polymorphisms: what they are and their role in human pigmentation.
Kosmadaki MG et al.
Actas Dermo-sifiliograficas, 2009
Genome-wide association study of tanning phenotype in a population of European ancestry.
Nan H et al.
The Journal of Investigative Dermatology, 2009
Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
Nan H et al.
International Journal of Cancer, 2009
A study of a single variant allele (rs1426654) of the pigmentation-related gene SLC24A5 in Greek subjects.
Dimisianos G et al.
Experimental Dermatology, 2009
Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci.
Cook AL et al.
The Journal of Investigative Dermatology, 2009
SLC45A2: a novel malignant melanoma-associated gene.
Fernandez LP et al.
Human Mutation, 2008
The loci of evolution: how predictable is genetic evolution?
Stern DL et al.
Evolution; International Journal of Organic Evolution, 2008
Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population.
Guedj M et al.
Human Mutation, 2008
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
Han J et al.
Plos Genetics, 2008
Association of the SLC45A2 gene with physiological human hair colour variation.
Branicki W et al.
Journal of Human Genetics, 2008
A genomewide association study of skin pigmentation in a South Asian population.
Stokowski RP et al.
American Journal of Human Genetics, 2007
SLC45A2 variations in Indian oculocutaneous albinism patients.
Sengupta M et al.
Molecular Vision, 2007
Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation.
Graf J et al.
Human Mutation, 2007
Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population.
Zühlke C et al.
Pigment Cell Research, 2007
Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2.
Soejima M et al.
International Journal of Legal Medicine, 2007
Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis.
Yuasa I et al.
Annals of Human Genetics, 2006
A golden age of human pigmentation genetics.
Sturm RA
Trends in Genetics : Tig, 2006
Evidence for recent positive selection at the human AIM1 locus in a European population.
Soejima M et al.
Molecular Biology and Evolution, 2006
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation.
Graf J et al.
Human Mutation, 2005
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
Distinctive distribution of AIM1 polymorphism among major human populations with different skin color.
Nakayama K et al.
Journal of Human Genetics, 2002
Colorful DNA polymorphisms in humans.
Liu F et al.
Seminars in Cell & Developmental Biology, 0