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Inferior sectoral chorioretinopathy in two patients with novel heterozygous mutations.
Ophthalmic 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.
Identification and characterization of a novel QTL for barley yellow mosaic disease resistance from bulbous barley.
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 PDFGlioblastoma Multiforme (GBM) is the most prevalent and highly malignant form of adult brain cancer characterized by poor overall survival rates. Effective therapeutic modalities remain limited, necessitating the search for novel treatments. Neurodevelopmental pathways have been implicated in glioma formation, with key neurodevelopmental regulators being re- expressed or co-opted during glioma tumorigenesis.
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View Article and Find Full Text PDFThe metabolism of steroids by the gut microbiome affects hormone homeostasis, impacting host development, mental health, and reproductive functions. In this study, we identify the Δ -3-ketosteroid 5β-reductase, 3β-hydroxysteroid dehydrogenase/Δ isomerase, and Δ -3-ketosteroid reductase enzyme families encoded by common human gut bacteria. Through phylogenetic reconstruction and mutagenesis, We show that 5β-reductase and Δ -3-ketosteroid reductase have evolved to specialize in converting diverse 3-keto steroid hormones into their 5β- and Δ -reduced derivatives.
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