Results 61 to 70 of about 14,286 (195)

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

open access: yesAdvanced Science, Volume 13, Issue 56, 9 October 2026.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li   +23 more
wiley   +1 more source

Clinical and genetic aspects of albinism [PDF]

open access: yesКлиническая офтальмология, 2021
V.V. Kadyshev, S.A. Ryazhskaya, O.V. Khalanskaya, N.V. Zhurkova, R.A. Zinchenko Research Center for Medical Genetics, Moscow, Russian Federation Albinism is a clinically and genetically heterogeneous group of hereditary ...
V.V. Kadyshev   +4 more
doaj  

Sun Safety Knowledge, Attitudes, and Practices Among Farmers in Ede‐Oballa, Nigeria

open access: yesHealth Science Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background Excessive exposure to ultraviolet (UV) radiation of the sun poses significant health risks to outdoor workers. Farmers are particularly vulnerable, yet their knowledge and practices regarding sun protection are underreported in low‐resource settings.
Ukah Cynthia Chinonso, Majani Edward
wiley   +1 more source

Current and Emerging Treatments for Albinism

open access: yes, 2020
Albinism is a group of rare inherited disorders arising from impairment of melanin biosynthesis. The reduction of melanin synthesis leads to hypopigmentation of skin and eyes.
Helen J Kuht (9616598)   +4 more
core   +3 more sources

The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism

open access: yesBMC Medicine
Background To date, almost no research on the psychosocial implications of albinism has been conducted in France and an exploration of albinism-related experiences could be beneficial, in order to better understand this condition.
Hugo Fournier   +9 more
doaj   +1 more source

Exploring the experiences of persons living with albinism in Ghana

open access: yesCogent Education
Albinism is typically misunderstood, resulting in myths and misconceptions about the condition in different parts of the world. This study explores the misconceptions about albinism in Ghana through the lens of lived experiences of persons living with ...
Andrew Kwame Daklo   +1 more
doaj   +1 more source

First report of complete albinism in Mazama americana (Erxleben, 1777) in the Biological Reserve of Tapirapé, Oriental Amazon, Brazil

open access: yesActa Scientiarum: Biological Sciences, 2020
Albinism is a genetic condition that results in total hypopigmentation of the eyes, fur, skin, hair, scales, and feathers of an organism. Albinism might result in a selective disadvantage for affected animals.
Raquel Ribeiro   +1 more
doaj   +1 more source

Dermatological Disease at a Tertiary Military Hospital in Burundi: A Retrospective Review

open access: yes
International Journal of Dermatology, EarlyView.
Doriane Sabushimike   +5 more
wiley   +1 more source

Being different: what it means to be a person with albinism in Nigeria [PDF]

open access: yes
Persons with albinism experience visual impairments and have unusually white hair and skin colour. In Nigeria, they face social disadvantages due to misconceptions about albinism, which create barriers to equal participation in education, employment, and
Olagunju, A,   +3 more
core   +1 more source

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