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http://dx.doi.org/10.1016/j.medcli.2016.02.006 | DOI Listing |
Acta Dermatovenerol Croat
November 2024
Vesna Vukičević Lazarević, MD Special Hospital for Pulmonary Diseases, Rockefellerova 3, 10000 Zagreb, Croatia;
Pathophysiologically, drug hypersensitive reactions (DHRs) are classified into four types: type I, immediate reactions, and types II, III, and IV, non-immediate reactions. They are further categorized as severe or non-severe based on clinical severity. Genetic predisposition and viral reactivation are cofactors of severe DHR type IV.
View Article and Find Full Text PDFOphthalmic Genet
January 2025
Departments of Medical Genetics and Ophthalmology & Visual Sciences, University of Alberta, Edmonton, Alberta, Canada.
Background: Pathogenic variants in , a kinesin family gene, cause MCLMR and FEVR. In MCLMR, chorioretinal atrophy is present in the majority of cases and can be a helpful diagnostic sign.
Cases: We present the cases of two patients with chorioretinal atrophy and microcephaly who carry novel mutations.
Plant Genome
March 2025
Key Laboratory of Plant Functional Genomics of the Ministry of Education/Jiangsu Key Laboratory of Crop Genomics and Molecular Breeding/Jiangsu Co-Innovation Center for Modern Production Technology of Grain Crops/Joint International Research Laboratory of Agriculture and Agri-Product Safety of Ministry of Education of China, Yangzhou University, Yangzhou, China.
Winter barley (Hordeum vulgare) production areas in the middle and lower reaches of the Yangtze River are severely threatened by barley yellow mosaic disease, which is caused by Barley yellow mosaic virus and Barley mild mosaic virus. Improving barley disease resistance in breeding programs requires knowledge of genetic loci in germplasm resources. In this study, bulked segregant analysis (BSA) identified a novel major quantitative trait loci (QTL) QRym.
View Article and Find Full Text PDFChem Biodivers
January 2025
Biruni Universitesi, Molecular Biology and Genetics, Biruni Uni, İstanbul, TURKEY.
Regulation of protein production in response to physiological signals is achieved through precise control of Eukaryotic Elongation Factor 2 (eEF2), whose distinct translocase function is crucial for cell survival. Phosphorylation of eEF2 at its Thr56 (T56) residue inactivates this function in translation. Using genetically modified paralogue of a colon cancer cell line, HCT116 which carries a point mutation at Ser595-to-Alanine in the eEF2 gene we were able to create a constitutively active form of eEF2.
View Article and Find Full Text PDFJ Helminthol
January 2025
Center of Parasitology of A.N. Severtsov Institute of Ecology and Evolution of the Russian Academy of Sciences, Leninskii Prospect 33, 117071, Moscow, Russia.
Studying complexes of cryptic or pseudocryptic species opens new horizons for the understanding of speciation processes, an important yet vague issue for the digeneans. We investigated a hemiuroidean trematode across a wide geographic range including the northern European seas (White, Barents, and Pechora), East Siberian Sea, and the Pacific Northwest (Sea of Okhotsk and Sea of Japan). The goals were to explore the genetic diversity within through mitochondrial ( and genes) and ribosomal (ITS1, ITS2, 28S rDNA) marker sequences, to study morphometry of maritae, and to revise the life cycle data.
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