Results 11 to 20 of about 21,367 (237)

Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism. [PDF]

Pigment Cell Melanoma Res
This study defines multi‐allele haplotypes, comprised of rare disease variants combined with common eQTL, sQTL and GWAS variants, for oculocutaneous albinism type 2 (OCA2). These haplotypes have implications for variant pathogenicity assessments and phenotypic variability.
Gillis MF, Ames MR, Lundh L, Gotea V, Elnitski L, Donovan F, NISC Comparative Sequencing Program, Adeyemo A, Rotimi C, Brooks B, Zein W, Gahl W, Oetting WS, Adams DR, Loftus SK.   +14 more
europepmc   +2 more sources

Skin Cancers Among Albinos at a University Teaching Hospital in Northwestern Tanzania: A Retrospective Review of 64 Cases. [PDF]

, 2012
Skin cancers are a major risk associated with albinism and are thought to be a major cause of death in African albinos. The challenges associated with the care of these patients are numerous and need to be addressed.
A Yakubu, AN Okoro, CJ Witkop, DD Datubo-Brown, DP Lookingbill, E Berger, Erasmus Kamugisha, ES Hong, F Kagore, G Summers, GA Alexander, Geofrey Giiti, GM Edington, Hyasinta Jaka, J Luande, Japhet M Gilyoma, JG Kromberg, Joseph B Mabula, K Glanz, KO Opara, M Terenziani, Mabula D Mchembe, ME Asuquo, ME Asuquo, Nestory Masalu, Peter Rambau, Phillipo L Chalya, PL Chalya, SA Ademiluyi, SM Hutton, Ssentongo Robert, TL Diepgen, VS Ramalingam, W Fu   +33 more
core   +3 more sources

Albinism in Africa as a public health issue

BMC Public Health, 2006
Background Oculocutaneous albinism (OCA) is a genetically inherited autosomal recessive condition and OCA2, tyrosine-positive albinism, is the most prevalent type found throughout Africa.
Hong Esther S, Zeeb Hajo, Repacholi Michael H   +2 more
doaj   +1 more source

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

Nature Communications, 2022
Albinism is a rare disorder often caused by high-effect rare variants in the TYR gene. Here, the authors study a large albinism cohort and find that a common variant in the TYR promoter contributes to albinism by modifying the penetrance of other common ...
Vincent Michaud, Eulalie Lasseaux, David J. Green, Dave T. Gerrard, Claudio Plaisant, UK Biobank Eye and Vision Consortium, Tomas Fitzgerald, Ewan Birney, Benoît Arveiler, Graeme C. Black, Panagiotis I. Sergouniotis   +10 more
doaj   +1 more source

Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. [PDF]

, 2017
Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus).
Hart, James C, Miller, Craig T
core   +2 more sources

Being black in a white skin: Beliefs and stereotypes around albinism at a South African university

African Journal of Disability, 2015
Background: Partly because of the legacy of apartheid, and despite being a constitutional democracy, South Africa continues to be a deeply divided society, particularly along racial lines.
Relebohile Phatoli, Nontembeko Bila, Eleanor Ross   +2 more
doaj   +1 more source

Targeted mutagenesis using CRISPR-Cas9 in the chelicerate herbivore Tetranychus urticae [PDF]

, 2020
The use of CRISPR-Cas9 has revolutionized functional genetic work in many organisms, including more and more insect species. However, successful gene editing or genetic transformation has not yet been reported for chelicerates, the second largest group ...
Dermauw, Wannes, Jonckheere, Wim, Livadaras, Ioannis, Riga, Maria, Van Leeuwen, Thomas, Vontas, John   +5 more
core   +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, Patricia Lund, Caroline Bradbury-Jones, Julie Taylor   +3 more
doaj   +1 more source

Foveal hypoplasia in oculocutaneous albinism: An optical coherence tomography study

African Vision and Eye Health, 2023
Background: Albinism is an inherited condition characterised by a lack of pigmentation. Foveal hypoplasia, which occurs because of disruptions in normal foveal development, is commonly observed in albinism.
Ethan Pillay, Nishanee Rampersad
doaj   +1 more source

Distribution of macular ganglion cell layer thickness in foveal hypoplasia: A new diagnostic criterion for ocular albinism.

PLoS ONE, 2019
Background/aimsTo analyse the distribution of macular ganglion cell layer thickness (GCLT) in patients with foveal hypoplasia (FH) with or without albinism to obtain new insights into visual pathway anomalies in albinos.MethodsPatients with FH who ...
Viktoria C Brücher, Peter Heiduschka, Ulrike Grenzebach, Nicole Eter, Julia Biermann   +4 more
doaj   +1 more source