Results 31 to 40 of about 2,978 (164)
The Coexistence of Oculocutaneous Albinism with Schizophrenia [PDF]
Cureus, 2020 Oculocutaneous albinism (OCA) is an extremely rare skin disorder which occurs in 0.005% of the world population, whereas schizophrenia is a rare mental illness which affects 1% of the world population. Researchers have spent much time searching for the causes of schizophrenia, as they are still largely unknown.
Tsai, Alicia L, Agustines, Davin
openaire +2 more sources
Muller Journal of Medical Sciences and Research, 2014 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis and lysosomal deposition of ceroid lipofuscin pigment.
Prabodh Panchadhyayee +4 more
doaj +1 more source
JEADV Clinical Practice, EarlyView.ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni +3 more
wiley +1 more source
Indian Journal of Ophthalmology, 2014 A 70-year-old female patient presented with proptosis of right eye for the past 15 days and defective vision in both eyes since birth. She was found to have eccentric painful proptosis of right eye along with features of oculocutaneous albinism ...
J Saravanan +2 more
doaj +1 more source
Quality of life in patients with oculocutaneous albinism [PDF]
Anais Brasileiros de Dermatologia, 2015 BACKGROUND:The social reality of the albino needs to be more studied in Brazil, as myths and social segregation regarding this illness are likely to be found in the country, with psychosocial and medical implications.OBJECTIVE:As this subject has not ...
Marcus Maia +3 more
doaj +1 more source
Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism
Frontiers in Genetics, 2021 BackgroundTyrosinase-positive oculocutaneous albinism (OCA, type II, OCA2) is an autosomal recessive genetic disease in which the biosynthesis of melanin decreases in the skin, hair, and eyes. OCA2 disease is caused by mutations in OCA2 gene.
Linya Ma +8 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
Oculocutaneous albinism with iridofundal coloboma [PDF]
BMJ Case Reports, 2018 A 20-year-old woman presented to the retina clinic with complaints of diminution of vision, photophobia and involuntary movement of both eyes since birth. The patient had light-coloured skin complexion along with golden hair. Best corrected visual acuity was 1/60 and 4/60 in the right and left eyes, respectively.
Gunjan Saluja +3 more
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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
Biomedical Papers, 2015 Background: Chromosomal duplications involving 17p13.3 have recently been defined as a new distinctive syndrome with several diagnosed patients. Some variation is known to occur in the breakpoints of the duplicated region and, consequently, in the ...
Marzena Kucharczyk +6 more
doaj +1 more source