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Towards the Albino Mutant Gene in Borkh.
Plants (Basel)
December 2024
Changli Institute of Pomology, Hebei Academy of Agricultural and Forestry Science, Qinhuangdao 066600, China.
Albino mutation is among the most common phenomena that often causes a water imbalance and disturbs physiological functions in higher species of trees. Albinism frequently occurs in hybridized apples, but almost all seedlings die shortly after germination. In this study, a spontaneous albino mutant on Fuji apple trees was obtained.
View Article and Find Full Text PDFPhenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease.
Int J Mol Sci
November 2024
Department of Ophthalmology, University Hospital, Ludwig-Maximilians-University, 80336 Munich, Germany.
Article Synopsis
- Inherited retinal dystrophies (IRDs) are a significant cause of blindness or severe visual impairment in children, with varying symptoms and genetic associations.
- The study analyzed data from 309 pediatric patients to determine the clinical and genetic profiles of IRDs, finding distinct patterns in preschoolers versus school-aged children.
- Preschoolers exhibited symptoms like nystagmus and established genetic variants linked to isolated and syndromic forms of IRDs, while school-aged children largely showed declining visual acuity and a higher prevalence of cone-dominated diseases.
Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia.
PLoS One
November 2024
Facultad de Ciencias, Universidad de Los Andes, Bogotá, Colombia.
Autosomal recessive conditions are often associated with homozygous mutations showing common ancestral origins and are frequently linked to consanguinity. However, an increasing number of compound heterozygotes are found in diverse, admixed populations. Oculocutaneous albinism (OCA) is a recessive condition caused mainly by mutations in the TYR and OCA2 genes involved in skin pigmentation.
View Article and Find Full Text PDFSuggested solutions to barriers in accessing healthcare by persons with disability in Uganda: a qualitative study.
BMC Health Serv Res
August 2024
International Centre for Evidence in Disability, London School of Hygiene and Tropical Medicine, London, UK.
Article Synopsis
- * Researchers conducted 27 semi-structured interviews with individuals with various disabilities in rural Luuka district to gather insights on their healthcare experiences and needs.
- * Key recommendations include advocating for disability awareness, empowering communities socio-economically, training healthcare providers on disability issues, improving accessibility, and ensuring representation of disabled individuals in health management.
Genotypic spectrum of albinism in Mali.
Pigment Cell Melanoma Res
November 2024
Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University INSERM U1211, Bordeaux, France.
Albinism is a phenotypically and genetically heterogeneous condition characterized by a variable degree of hypopigmentation and by ocular features leading to reduced visual acuity. Whereas numerous genotypic studies have been conducted throughout the world, very little is known about the genotypic spectrum of albinism in Africa and especially in sub-Saharan Western Africa. Here we report the analysis of all known albinism genes in a series a 23 patients originating from Mali.
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