Associated Papers
Insights from Computational Dynamic Active Site Mapping into Substrate Recognition and Mutation-Induced Dysfunction in Human Tyrosinase.
Dolinska MB et al.
International Journal of Molecular Sciences, 2026
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM4_ESM.xlsx › supp_data_1
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM4_ESM.xlsx › Supplementary-Table_1
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
32849781 (PubMed )
Supplement: Data_Sheet_2.docx
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
Structure and Function of Human Tyrosinase and Tyrosinase-Related Proteins.
Lai X et al.
Chemistry (weinheim an Der Bergstrasse, Germany), 2018
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
Mutational analysis of TYR gene and its structural consequences in OCA1A.
K B et al.
Gene, 2013
A three-dimensional model of mammalian tyrosinase active site accounting for loss of function mutations.
Schweikardt T et al.
Pigment Cell Research, 2007
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
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
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