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Syntaxin-3 Is Required for Melanosomal Localization of Tyrp1 in Melanocytes

Genetic Studies of TYRP1 and SLC45A2 in Pakistani Patients with Nonsyndromic Oculocutaneous Albinism

Melanesian blond hair is caused by an amino acid change in TYRP1.

Naturally blond hair is rare in humans and found almost exclusively in Europe and Oceania. Here, we identify an arginine-to-cysteine change at a highly conserved residue in tyrosinase-related protein...

A 6-bp deletion in the TYRP1 gene causes the brown colouration phenotype in Chinese indigenous pigs.

Brown coat colour has been described in Chinese-Tibetan, Kele, and Dahe pigs. Here, we report the identification of a causal mutation underlying the brown colouration. We performed a genome-wide assoc...

The changes of microRNA expression profiles and tyrosinase related proteins in MITF knocked down melanocytes.

Microphthalmia-associated transcription factor (MITF) is a master regulator in melanocyte proliferation, development, survival and melanoma formation. In melanocyte dysfunction disease, it is observed...

Genetic Studies of TYRP1 and SLC45A2 in Pakistani Patients with Nonsyndromic Oculocutaneous Albinism.

Oculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations in TYRP1 Gene in Two Chinese Patients.

Oculocutaneous albinism (OCA) is a genetic disease characterized by the reduction or deficiency of melanin in eyes, skin, and hair. OCA exhibits genetic heterogeneity. Presently, there are four types...