Associated Papers
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
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
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
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.
Hovnik T et al.
Acta Chimica Slovenica, 2021
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Rayner JE et al.
Plos One, 2020
32966289 (PubMed )
Supplement: pone.0238529.s003.docx
Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma.
Nathan V et al.
Pigment Cell & Melanoma Research, 2019
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov DR et al.
Human Mutation, 2013
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
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