Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
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
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
A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.
Grønskov K et al.
Scientific Reports, 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
Clinical evaluation and molecular screening of a large consecutive series of albino patients.
Mauri L et al.
Journal of Human Genetics, 2017
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
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 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
Identification of active site residues involved in metal cofactor binding and stereospecific substrate recognition in Mammalian tyrosinase. Implications to the catalytic cycle.
Olivares C et al.
Biochemistry, 2002
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation.
Toyofuku K et al.
The Biochemical Journal, 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
Mutational analysis of copper binding by human tyrosinase.
Spritz RA et al.
The Journal of Investigative Dermatology, 1997
The clinical spectrum of albinism in humans.
Oetting WS et al.
Molecular Medicine Today, 1996
Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1).
Oetting WS et al.
Pigment Cell Research, 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