Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme. A large number of mutations have ...
Researchers at the National Eye Institute (NEI) have developed the first patient-derived stem cell model for studying eye conditions related to oculocutaneous albinism (OCA). The model's development ...
Researchers have developed the first patient-derived stem cell model for studying eye conditions related to oculocutaneous albinism (OCA). The model's development is described in the January issue of ...
Researchers at the National Eye Institute (NEI) have developed the first patient-derived stem cell model for studying eye conditions related to oculocutaneous albinism (OCA). The model’s development ...
Albinism is an inherited condition in which the body produces little or no melanin, the pigment that gives color to the skin and hair. It may cause very pale skin and hair. Albinism can affect anyone, ...
606933 (TYR), protein: Tyrosinase. RefSeq: NG_008748.1. Transcript: NM_000372.4 611409 (OCA2), protein: OCA2. RefSeq: NG_009846.1. Transcript: NM_000275.2 115501 ...
The model’s development is described in the January issue of the journal Stem Cell Reports. NEI is part of the National Institutes of Health. “This ‘disease-in-a-dish’ system will help us understand ...
The "disease-in-a-dish" system developed by researchers helps us understand how the absence of pigment in albinism leads to abnormal development of the retina, optic nerve fibers, and other eye ...