Melanogenesis is the process that regulates skin and eye pigmentation. Albinism, a genetic
disease causing pigmentation defects and visual disorders, is caused by mutations in genes …

Ocular albinism type 1 (OA1) is an X-linked human genetic disorder that affects retinal
pigment cells and, to a lesser degree, neural crest-derived melanocytes. TheOA1gene is …

We report the isolation of the mouse homolog of OA1, the gene responsible for ocular
albinism type 1. The mouse Oa1 gene encodes a putative protein of 405 amino acids …

purpose. Mutations in the OA1 gene cause ocular albinism type 1 (OA1), an X-linked form of
albinism affecting only the eye, with skin pigmentation appearing normal. To better …

Microphthalmia‐associated transcription factor (MITF) plays a pivotal role in melanocyte
survival and differentiation. Nevertheless, until now it has not been possible to show that …

O cular a lbinism type 1 (OA1) is an X‐linked recessive disorder characterized by a severe
reduction of visual acuity, and hypopigmentation of the retina that leads to nystagmus …

purpose. The authors took advantage of the Oa1 mutant mouse in combination with other
albinism mouse models (ie, Tyrosinase and membrane-associated transporter protein …

Albinism is a pigment disorder affecting eye, skin and/or hair. Patients usually have
decreased melanin in affected tissues and suffer from severe visual abnormalities, including …

Expression profile analysis demonstrated that the expression of membrane-associated
transporter protein (MATP) varied similarly to the melanogenic enzymes dopachrome …

Certain transcription factors have vital roles in lineage development, including specification
of cell types and control of differentiation. Microphthalmia-associated transcription factor …