Associated Papers
Population- and haplotype-dependent variation around TYR rs1126809: An in silico study for melanoma risk research.
Balogh ÁÁ et al.
Jid Innovations : Skin Science From Molecules to Population Health, 2026
Advances in haplotype phasing and genotype imputation.
Sun Q et al.
Nature Reviews. Genetics, 2026
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.
Ionova S et al.
Pigment Cell & Melanoma Research, 2026
First Report of Oculocutaneous Albinism Type I Among Baka Pygmies From Cameroon.
Froment A et al.
Pigment Cell & Melanoma Research, 2026
Genome editing of a low-penetrance albinism-associated variant in TYR in patient-derived pluripotent stem cells.
Downton P et al.
Stem Cell Research, 2025
Albinism: from genetics to cell biology and physiopathology.
Diallo M et al.
Presse Medicale (paris, France : 1983), 2025
Multiplexed Assays of Variant Effect and Reclassification of TYR Variants in Chinese Patients with Oculocutaneous Albinism.
Lv S et al.
The Journal of Investigative Dermatology, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Genetic Association of TYR rs7129973 With Vitiligo Vulgaris in Mexicans.
Salinas-Santander MA et al.
Actas Dermo-sifiliograficas, 2025
Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant.
Shihab RN et al.
Clinical Case Reports, 2025
Genetic mutations disrupt the coordinated mode of tyrosinase's intra-melanosomal domain.
Toay S et al.
Protein Science : a Publication of the Protein Society, 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Hou H et al.
Npj Genomic Medicine, 2025
Pigmentation and Retinal Pigment Epithelium Thickness: A Study of the Phenotypic and Genotypic Relationships Between Ocular and Extraocular Pigmented Tissues.
Julian TH et al.
Pigment Cell & Melanoma Research, 2025
Genetic insights into foveal morphology and its associations with pigmentation and age-related macular degeneration.
Green DJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Oculocutaneous albinism type 1B associated with allelic combination of a risk haplotype.
Nagy N et al.
Journal of Dermatological Science, 2025
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 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
Genetic mutations disrupt the coordinated mode of tyrosinase intra-melanosomal domain.
Toay S et al.
Biorxiv : the Preprint Server for Biology, 2025
Molecular insights into genodermatoses: Genetic findings from 43 patients.
Sama AD et al.
Archives of Dermatological Research, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Human recombinant tyrosinase destabilization caused by the double mutation R217Q/R402Q.
Toay S et al.
Protein Science : a Publication of the Protein Society, 2025
Association of Genetic Polymorphisms in SLC45A2, TYR, HERC2, and SLC24A in African Women with Melasma: A Pilot Study.
Mpofana N et al.
International Journal of Molecular Sciences, 2025
Novel Variants in Medium and Low Penetrance Predisposing Genes in a Hungarian Malignant Melanoma Cohort With Increased Risk.
Bokor BA et al.
Pigment Cell & Melanoma Research, 2025
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.
Sen S et al.
Frontiers in Genetics, 2025
Uncovering the molecular mechanisms of amelanotic/hypopigmented primary cutaneous melanoma.
Sturm RA et al.
The British Journal of Dermatology, 2024
Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.
Shchagina O et al.
Biomedicines, 2024
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.
Elsayed LEO et al.
Human Genomics, 2024
Skin pigmentation related variants in Mexican population and interaction effects on serum 25(OH)D concentration and vitamin D deficiency.
Rivera-Paredez B et al.
Scientific Reports, 2024
Genotype-Phenotype Correlation Model for the Spectrum of TYR-Associated Albinism.
Bjeloš M et al.
Diagnostics (basel, Switzerland), 2024
Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights.
Bacci GM et al.
Scientific Reports, 2024
After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.
Serrano-González J et al.
Molecular Genetics & Genomic Medicine, 2024
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.
Maggi J et al.
International Journal of Molecular Sciences, 2024
Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report.
Bjeloš M et al.
International Journal of Molecular Sciences, 2024
The prevalence of autism among children with albinism.
Gunz S et al.
European Journal of Ophthalmology, 2024
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism.
Woertz EN et al.
Investigative Ophthalmology & Visual Science, 2024