Associated Papers
Genetic variants in melanogenesis proteins TYRP1 and TYR are associated with the golden rhesus macaque phenotype.
Peterson SM et al.
G3 (bethesda, Md.), 2023
37522525 (PubMed )
Supplement: jkad168_supplementary_data.zip › STables_Peterson_etal.xlsx › Supplementary_Table_1
In vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3-related mutant variants.
Dolinska MB et al.
Protein Science : a Publication of the Protein Society, 2023
Tyrp1 Mutant Variants Associated with OCA3: Computational Characterization of Protein Stability and Ligand Binding.
Patel MH et al.
International Journal of Molecular Sciences, 2021
Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3.
Onojafe IF et al.
Investigative Ophthalmology & Visual Science, 2018
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.
Wang X et al.
Bmc Ophthalmology, 2017
28838317 (PubMed )
Supplement: 12886_2017_549_MOESM3_ESM.pdf
The brown coat colour of Coppernecked goats is associated with a non-synonymous variant at the TYRP1 locus on chromosome 8.
Becker D et al.
Animal Genetics, 2015
Mutational analysis of oculocutaneous albinism: a compact review.
Kamaraj B et al.
Biomed Research International, 2014
In silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3.
Kamaraj B et al.
Biomed Research International, 2013
The genetics of pigment dispersion syndrome and pigmentary glaucoma.
Lascaratos G et al.
Survey of Ophthalmology, 0
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