Articles tagged with Albinism
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A major albinism gene's exon skipping levels control human skin and hair color diversity. Researchers found that OCA2 exon 10 skipping contributes to hypopigmentation, shedding light on the genetic basis of human pigmentation.
Albino cane toads created using CRISPR technology reveal that albinism affects survival and hunting abilities, with poor eyesight being the core problem. In controlled environments, albino tadpoles were less likely to survive and developed faster when competing with pigmented siblings for food and space.
A new study from the Netherlands Institute for Neuroscience reveals that pendular nystagmus, a spontaneous back-and-forth movement of the eye, is caused by an abnormality in the nucleus of the optic tract. This condition hinders social eye contact and affects vision, with treatment methods often having unpleasant side effects.
Researchers at Kyoto University have identified a genetic mutation causing albinism in wallabies, tracing it to an inserted retrovirus gene. The study found that the mutation was caused by a copy of the HIV-like virus inserted into the host's genome.
Researchers have created a human stem cell model of albinism using patient-derived stem cells, allowing for the study of how lack of pigmentation affects retinal development and function. This model will enable high-throughput screening of potential therapies to treat eye conditions associated with albinism.
Researchers found people with pale-colored melanomas are more likely to have an albinism gene mutation, which prevents brown pigment synthesis and increases skin cancer risk. This discovery could lead to personalized medicine and earlier treatment for patients with one mutated albinism gene.
People with pale-colored melanomas are more susceptible to developing rare genetic mutations associated with albinism. Researchers plan to collect samples to compare genotype and develop personalized monitoring for patients with one albinism gene mutation.
A team of researchers has identified dozens of genetic mutations linked to rare eye and skin disorders in knockout mice. These discoveries may help clinicians identify equivalent genes in human patients with no known genetic cause.
A small pilot clinical study suggests that nitisinone increases melanin production in some people with oculocutaneous albinism type 1B, a rare genetic disease. The drug may help protect against the sun's UV rays and promote normal vision development.
Michigan State University researchers identified a gene mutation in Doberman pinschers that causes albinism, similar to humans. The study found over half of albino dogs developed tumors, while only one regular-colored dog did.
Researchers have found that treating mice with OCA-1B, a form of oculocutaneous albinism, with nitisinone improves eye and skin pigmentation. The study suggests that nitisinone could potentially ameliorate vision loss in patients with OCA-1B.
Researchers found genetic markers for albinism in two cave-dwelling fish populations appeared in the same location, suggesting a common mutation. The Oca2 gene was identified as responsible for pigmentation and the deletion of a specific exon produced albinism.