Results 41 to 50 of about 4,797 (115)
Type I Oculocutaneous Albinism Associated with a Full-Length Deletion of the Tyrosinase Gene [PDF]
, 1996 Type I oculocutaneous albinism is an autosomal recessive disorder in which the biosynthesis of melanin is reduced or absent in skin, hair, and eyes because of deficient activity of tyrosinase (EC 1.14.18.1).
Holmes, Stuart A. +5 more
core +1 more source
Dermatoscopy of pigmented melanocytic nevi in patients with oculocutaneous albinism
, 2009 Oculocutaneous albinism is a group of rare inherited disorders of pigmentation. Some albinos may have a certain degree of melanin production and, consequently, may develop pigmented lesions during their lives.
ZALAUDEK, IRIS
core +2 more sources
Journal of Medical Case ReportsBackground Oculocutaneous albinism is a rare autosomal recessive disorder caused by congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin.
Qian Ma, Weiwei Wang
doaj +1 more source
Children with albinism in African regions: their rights to ‘being’ and ‘doing’
BMC International Health and Human Rights, 2018 Background Albinism is an inherited condition with a relatively high prevalence in populations throughout sub-Saharan Africa. People with oculocutaneous albinism have little or no pigment in their hair, skin and eyes; thus they are visually impaired and ...
Anita Franklin +3 more
doaj +1 more source
ASIP Variants in Livestock: It's Not Black and White
Animal Genetics, Volume 57, Issue 3, June 2026.ABSTRACT Fur and feather pigmentation play an important role in the survival and reproduction of many species, as well as in selective breeding and agriculture. The synthesis of pigment molecules, eumelanin and pheomelanin, is partially regulated by the agouti signalling protein (ASIP) encoded by the ASIP gene.
Isabella M. Brown, Kylie A. Munyard
wiley +1 more source
OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. [PDF]
, 2017 We investigated a German Spitz family where the mating of a black male to a white female had yielded three puppies with an unexpected light brown coat color, lightly pigmented lips and noses, and blue eyes.
Caduff, Madleina +7 more
core +3 more sources
A nonsense mutation in the tyrosinase gene causes albinism in water buffalo
BMC Genetics, 2012 Background Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation ...
Damé Maria Cecília +6 more
doaj +1 more source
Journal of Experimental Zoology Part A: Ecological and Integrative Physiology, Volume 345, Issue 5, Page 486-497, June 2026.ABSTRACT Across the animal kingdom, social behaviors such as aggression are critical for survival and reproductive success. While there is significant variation in social behaviors within and between species, the genetic mechanisms underlying natural variation in social behaviors are poorly understood.
Renee Mapa +5 more
wiley +1 more source
Teenagers with oculocutaneous Albinism in Polokwane : their self-esteem and perceptions of societal attitudes [PDF]
, 2007 Thesis (M.A. (Clinical Psychology)) -- University of Limpopo, 2007This study explored the self-esteem of teenagers with oculocutaneous albinism and how they perceive societal attitudes towards them.
Selepe, Dorothy Mabore
core +1 more source
Public Health Challenges, Volume 5, Issue 2, June 2026.Persons with albinism in this study have inadequate knowledge regarding climate change, self‐reported eye and skin conditions, and utilize insufficient protection strategies. Although they adopt various strategies to cope with climate change effects, these are insufficient for their full protection.
Botha Nkosi Nkosi +4 more
wiley +1 more source