Associated Papers
Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8.
Mamaeva D et al.
Stem Cell Research, 2025
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
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 Dct-/- Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.
Tingaud-Sequeira A et al.
Genes, 2022
Protein Biochemistry and Molecular Modeling of the Intra-Melanosomal Domain of Human Recombinant Tyrp2 Protein and OCA8-Related Mutant Variants.
Dolinska MB et al.
International Journal of Molecular Sciences, 2022
Dopachrome tautomerase variants in patients with oculocutaneous albinism.
Pennamen P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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