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
Mutations Outside the Ure2 Amyloid-Forming Region Disrupt [URE3] Prion Propagation and Alter Interactions with Protein Quality Control Factors.
Kumar S et al.
Molecular and Cellular Biology, 2020
Clinical evaluation and molecular screening of a large consecutive series of albino patients.
Mauri L et al.
Journal of Human Genetics, 2017
Functional assessment of tyrosinase variants identified in individuals with albinism is essential for unequivocal determination of genotype-to-phenotype correlation.
Mondal M et al.
The British Journal of Dermatology, 2016
Select a paper to view details