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
First Report of Oculocutaneous Albinism Type I Among Baka Pygmies From Cameroon.
Froment A et al.
Pigment Cell & Melanoma Research, 2026
The Role of Two Tyrosinase-Like Glycoenzymes in Defining the Final Hue of Parrot Plumage.
Ghosh Roy S et al.
Pigment Cell & Melanoma Research, 2025
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
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
Baboon bearing resemblance in pigmentation pattern to Siamese cat carries a missense mutation in the tyrosinase gene.
Koga A et al.
Genome, 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
Functional in silico analysis of human tyrosinase and OCA1 associated mutations.
Patel M et al.
Journal of Analytical & Pharmaceutical Research, 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
Computational analysis of histidine mutations on the structural stability of human tyrosinases leading to albinism insurgence.
Hassan M et al.
Molecular Biosystems, 2017
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
Ghodsinejad Kalahroudi V et al.
Plos One, 2014
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.
Rooryck C et al.
Pigment Cell & Melanoma Research, 2008
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