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A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol.
BMJ Open
December 2024
INSERM UMR1231 Génétique des Anomalies du Développement (GAD), Université de Bourgogne, Dijon, France.
Introduction: The megalencephaly capillary malformation polymicrogyria (MCAP syndrome) results from mosaic gain-of-function variants. The main clinical features are macrocephaly, somatic overgrowth, neurodevelopmental delay and brain anomalies. Alpelisib (Vijoice) is a recently FDA-approved PI3Kα-specific inhibitor for patients with PIK3CA-related overgrowth spectrum (PROS).
View Article and Find Full Text PDFPAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism.
Epilepsia Open
January 2025
Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Protein-activated kinases mediate spine morphogenesis and synaptic plasticity. PAK3 is part of the p21-activated kinases (PAKs) family of Ras-signaling serine/threonine kinases. Pathogenic variants in the X-linked gene PAK3 have been described in patients with neurodevelopmental syndromes.
View Article and Find Full Text PDFTissue-specific resistance and susceptibility to the tomato brown rugose fruit virus (ToBRFV) conferred by Solanum pennellii loci.
BMC Plant Biol
January 2025
The Institute of Plant Sciences and Genetics, Faculty of Agriculture, The Hebrew University of Jerusalem, Rehovot, 7610001, Israel.
Background: Plant breeding research heavily relies on wild species, which harbor valuable traits for modern agriculture. This work employed a new introgression population derived from Solanum pennellii (LA5240), a wild tomato native to Peru, composed of 1,900 genotyped backcross inbred lines (BILs_BC2S6) in the tomato inbreds LEA and TOP cultivated genetic backgrounds. This Peruvian accession was found resistant to the most threatening disease of tomatoes today, caused by the tobamovirus tomato brown rugose fruit virus (ToBRFV).
View Article and Find Full Text PDFElevated Temperature Diminishes Reciprocal Selection in an Experimental Plant-Pollinator-Herbivore System.
Ecol Lett
January 2025
Department of Systematic and Evolutionary Botany, University of Zürich, Zurich, Switzerland.
The geographic mosaic of coevolution predicts reciprocal selection, the first step in coevolution, to vary with changing biotic and abiotic environmental conditions. Studying how temperature affects reciprocal selection is essential to connect effects of global warming on the microevolutionary patterns of coevolution to the ecological processes underlying them. In this study, we investigated whether temperature influenced reciprocal selection between a plant (Brassica rapa) and its pollinating butterfly herbivore (Pieris rapae).
View Article and Find Full Text PDFIdentification 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.
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