Associated Papers
Binding ability of Delta and Omicron towards the angiotensin-converting enzyme 2 receptor and antibodies: a computational study.
Nguyen QT et al.
Journal of Biomolecular Structure & Dynamics, 2025
Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant.
Shihab RN et al.
Clinical Case Reports, 2025
Bebtelovimab-bound SARS-CoV-2 RBD mutants: resistance profiling and validation with escape mutations, clinical results, and viral genome sequences.
Bhagat K et al.
Febs Letters, 2024
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
Molecular Insights into the Variability in Infection and Immune Evasion Capabilities of SARS-CoV-2 Variants: A Sequence and Structural Investigation of the RBD Domain.
Wang TH et al.
Journal of Chemical Information and Modeling, 2024
Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism.
Woertz EN et al.
Investigative Ophthalmology & Visual Science, 2024
Dynamics of water-mediated interaction effects on the stability and transmission of Omicron.
Zaman N et al.
Scientific Reports, 2023
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT et al.
Genome Medicine, 2023
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.
Seguy PH et al.
Investigative Ophthalmology & Visual Science, 2023
Divergent mutations of Delta and Omicron variants: key players behind differential viral attributes across the COVID-19 waves.
Panja A et al.
Virusdisease, 2023
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
Kessel L et al.
Ophthalmic Genetics, 2021
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.
Litts KM et al.
Translational Vision Science & Technology, 2021
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
Chan HW et al.
Genes, 2021
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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 small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.
O'Gorman L et al.
Scientific Reports, 2019
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene.
Monfermé S et al.
The British Journal of Ophthalmology, 2019
Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1.
Farney SK et al.
Journal of Analytical & Pharmaceutical Research, 2018
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
Ghodsinejad Kalahroudi V et al.
Plos One, 2014
Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects.
Hu HH et al.
Journal of Dermatological Science, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 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
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.
King RA et al.
Human Genetics, 2003
Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
Camand O et al.
Human Mutation, 2001
The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.
Oetting WS
Pigment Cell Research, 2000
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).
Spritz RA et al.
Human Mutation, 1997
Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1).
Oetting WS et al.
Pigment Cell Research, 1994
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
Gershoni-Baruch R et al.
American Journal of Human Genetics, 1994
Molecular genetics of oculocutaneous albinism.
Spritz RA
Human Molecular Genetics, 1994
Molecular genetics of oculocutaneous albinism.
Spritz RA
Seminars in Dermatology, 1993
Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.
Oetting WS et al.
Human Mutation, 1993