Associated Papers
A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling.
Surl D et al.
Translational Vision Science & Technology, 2026
Simultaneous Genotyping of Three Nonsynonymous SNVs, rs1042602, rs1426654, and rs16891982 Involved in Skin Pigmentation by Fluorescent Probe-Based Melting Curve Analysis.
Soejima M et al.
Human Mutation, 2025
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.
Choquet H et al.
Communications Biology, 2024
Forensic DNA Phenotyping: Genes and Genetic Variants for Eye Color Prediction.
Brancato D et al.
Genes, 2023
Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population.
Ang KC et al.
Elife, 2023
Computational and Experimental Analysis of Genetic Variants.
Prokop JW et al.
Comprehensive Physiology, 2022
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
A large Canadian cohort provides insights into the genetic architecture of human hair colour.
Lona-Durazo F et al.
Communications Biology, 2021
Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma.
Shah MH et al.
Indian Journal of Ophthalmology, 2021
SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation.
Le L et al.
Molecular Biology of the Cell, 2020
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical 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
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.
Casula M et al.
Bmc Cancer, 2019
Assessment of rosacea symptom severity by genome-wide association study and expression analysis highlights immuno-inflammatory and skin pigmentation genes.
Aponte JL et al.
Human Molecular Genetics, 2018
Delineating the genetic heterogeneity of OCA in Hungarian patients.
Fábos B et al.
European Journal of Medical Research, 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
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
Estimating the Ages of Selection Signals from Different Epochs in Human History.
Nakagome S et al.
Molecular Biology and Evolution, 2016
Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model.
Reinders A et al.
Molecular Medicine Reports, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y.
Wilde S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European.
Olalde I et al.
Nature, 2014
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
Mauri L et al.
Gene, 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
Polymorphisms of four pigmentation genes (SLC45A2, SLC24A5, MC1R and TYRP1) among eleven endogamous populations of India.
Mukherjee M et al.
Journal of 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
Genetic architecture of skin and eye color in an African-European admixed population.
Beleza S et al.
Plos Genetics, 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
Genome-wide association study of skin complex diseases.
Zhang X
Journal of Dermatological Science, 2012
Skin color variation in Orang Asli tribes of Peninsular Malaysia.
Ang KC et al.
Plos One, 2012
Functional assessment of human coding mutations affecting skin pigmentation using zebrafish.
Tsetskhladze ZR et al.
Plos One, 2012
Evidence for hitchhiking of deleterious mutations within the human genome.
Chun S et al.
Plos Genetics, 2011
Molecular and clinical characterization of albinism in a large cohort of Italian patients.
Gargiulo A et al.
Investigative Ophthalmology & Visual Science, 2011
Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis.
Gerstenblith MR et al.
Pigment Cell & Melanoma Research, 2010
Predicting phenotype from genotype: normal pigmentation.
Valenzuela RK et al.
Journal of Forensic Sciences, 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
Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk.
Di Lucca J et al.
European Journal of Cancer (oxford, England : 1990), 2009
New common variants affecting susceptibility to basal cell carcinoma.
Stacey SN et al.
Nature Genetics, 2009
Molecular genetics of human pigmentation diversity.
Sturm RA
Human Molecular Genetics, 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
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
Hutton SM et al.
The Journal of Investigative Dermatology, 2008
Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population.
Guedj M et al.
Human Mutation, 2008
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
Hutton SM et al.
Investigative Ophthalmology & Visual Science, 2008
Complex variability of intron 40 of the von Willebrand factor (vWF) gene.
Hering S et al.
International Journal of Legal Medicine, 2008