Results 21 to 30 of about 7,886 (197)

A Recessive oca2 Mutation Underlies Albinism in Xiphophorus Fish. [PDF]

Pigment Cell Melanoma Res
Genetic mapping of albino Xiphophorus hellerii showed that albinism is associated with a recessive oca2 variant. This variant leads to early termination of the Oca2 protein. This study identifies a novel model system to investigate conserved mechanisms of pigmentation biology.
Xing Y, Boswell W, Parker J, Du K, Schartl M, Lu Y.   +5 more
europepmc   +2 more sources

Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an update

, 2021
Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an ...
BP Brooks (9883733), HJ Kuht (10129634), Aamir, Abdullah, A Aamir (10129631), Grønskov, Karen, Thomas, Mervyn G., MG Thomas (7665839), K Grønskov (10134551), Kuht, Helen J., Brooks, Brian P., Mervyn G. Thomas, Helen J. Kuht, Brian P. Brooks, Karen Grønskov, Abdullah Aamir   +14 more
core   +4 more sources

Long-read sequencing reveals SVA insertion in AP3B1 causing Hermansky-Pudlak syndrome 2. [PDF]

Pediatr Allergy Immunol
Pediatric Allergy and Immunology, Volume 37, Issue 7, July 2026.
Baba N, Baba N, Elashy A, Wegehaupt O, Zieger B, Felek M, Ferro M, Gilmour K, Fischer U, Borkhardt A, Ehl S, Koppstein D, Ghosh S.   +12 more
europepmc   +2 more sources

A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. [PDF]

, 2017
Oculocutaneous albinism type 4 (OCA4) in humans and similar phenotypes in many animal species are caused by variants in the SLC45A2 gene, encoding a putative sugar transporter.
V. Jagannathan, M. Caduff, A. Bauer, Caduff, M, Bauer, Anina, Jagannathan, Vidhya, Leeb, Tosso, T. Leeb, Jagannathan V, Leeb T, Bauer A, Caduff M   +11 more
core   +4 more sources

Oculocutaneous Albinism [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2013
Review on Oculocutaneous Albinism, with data on clinics, and the genes involved.
Ray, K, Sengupta, M
  +7 more sources

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

Foveal avascular zone in oculocutaneous albinism [PDF]

, 2021
Optical coherence tomography angiography imaging in two patients with oculocutaneous albinism, one with severe nystagmus, showed persistence of both the superficial and the deep retinal capillary plexus adding another vascular feature to the foveal ...
Mansour, Ahmad Mohammed Farid Mahmoud, Uwaydat, Sami H., Younis, Muhammad H., Mansour, Hana A.   +3 more
core   +1 more source

A Phenomenological Analysis of Knowledge, Impact and Coping Strategies to Climate Change: Experiences of Persons With Albinism. [PDF]

Public Health Chall
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.
Nkosi BN, Esinam SC, Selase AF, Sarah A, Wilson AE.   +4 more
europepmc   +2 more sources

TYR (tyrosinase (oculocutaneous albinism IA)) [PDF]

, 2012
Review on TYR (tyrosinase (oculocutaneous albinism IA)), with data on DNA, on the protein encoded, and where the gene is ...
Mendoza, EE, Burd, R
core   +1 more source

Oculocutaneous Albinism in a Finetooth Shark, Carcharhinus isodon, from Mobile Bay, Alabama [PDF]

, 2006
Albinism has been documented in numerous species of teleosts (Dawson, 1964, 1966, 1971; Dawson and Heal, 1971). However, published accounts of oculocutaneous albino elasmobranches are relatively rare.
Jones, Lisa M., Lisa M. Jones, Robert L. Shipp, Shipp, Robert L.   +3 more
core   +1 more source