341. Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndromeNina Žakelj, David Gosar, Špela Miroševič, Stephan Sanders, Alicia Ljungdhal, Sayeh Kohani, Shouhe Huang, Roman Jerala, Duško Lainšček, Vida Forstnerič, Petra Sušjan, Jasna Oražem, Damjan Osredkar, 2025, izvirni znanstveni članek Povzetek: CTNNB1 neurodevelopmental syndrome is a rare disorder caused by de novo heterozygous variants in the CTNNB1 gene encoding β-catenin. This study aims to characterize genetic variants in individuals with CTNNB1 neurodevelopmental syndrome, systematically assess the spectrum of clinical phenotypes using standardized measures and explore potential genotype-phenotype correlations. In this cross-sectional cohort study, individuals diagnosed with CTNNB1 neurodevelopmental syndrome underwent structured interviews using standardized scales to evaluate motor skills, speech, communication, feeding abilities, visual function, neurodevelopment, and psychopathology. Genetic variants were analyzed, and in a subset of cases, the impact of β-catenin variants on the Wnt/β-catenin signaling pathway was assessed. Across the 127 included participants (mean age: 70 months; range: 7–242 months) from 20 countries, we identified 88 different variants of the CTNNB1 gene, 87 of which were predicted to lead to loss of CTNNB1 function. Functional assays demonstrated reduced Wnt signaling activity, including 11 variants that also exhibited a dominant-negative effect. One missense variant demonstrated a gain-of-function effect. Dominant-negative variants were not clearly associated with a distinct phenotype, however, those with missense variants presented a milder phenotype, including earlier achievement of independent walking, fewer motor impairments, better conceptual and social skills, improved communication, and fewer feeding difficulties. This study describes genetic, functional, and phenotypic characteristics in individuals with CTNNB1 neurodevelopmental syndrome. Further investigation into the genotypic and phenotypic characteristics of this syndrome and their interrelationships is essential to deepen our understanding of the disorder and inform the development of targeted therapies.
Ključne besede: CTNNB1 neurodevelopmental syndrome, β-catenin, genotype, phenotype, genotype-phenotype correlations
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342. Wild and globally traded ornamental aquatic plants harbor diverse plant viruses, including notable crop pathogensLana Vogrinec, Katarina Bačnik, Martina Bačič, Nataša Mehle, Aimee R. Fowkes, Živa Lengar, Valerie Harju, Ian Adams, Adrian Fox, Denis Kutnjak, 2025, izvirni znanstveni članek Povzetek: Background Aquatic plants play key roles in ecosystems, serving as primary producers and providing habitat for other aquatic life. While many are ecologically important, some invasive species, often introduced through the ornamental plant trade, pose threats to various aquatic ecosystems. Although viral infections have been documented to some extent in aquatic crops, the viral diversity in wild and ornamental aquatic plants remains largely unexplored. Investigating the viral communities of aquatic plants is important, as their direct contact with water allows for the potential long-distance transmission of stable viruses released from infected individuals. Invasive aquatic plants exacerbate this issue by introducing novel microbes, including viruses, to new regions, increasing the potential threat to native plant populations. Results Here, we investigated the viral communities of diverse aquatic plants by mining publicly available transcriptome data of 79 wild aquatic species and sequencing the RNA from 14 plant species (some of them of different ornamental varieties), sourced from hobby aquascaping stores. Plant viruses from various families were detected in taxonomically diverse aquatic plants, ranging from algae to angiosperms. Alongside sequences of known crop pathogens, such as turnip yellows virus, cucumber mosaic virus, and lettuce chlorosis virus, we identified contigs of putative novel viral species belonging to several plant-infecting viral families. Most notably, we discovered sequences of known and novel begomoviruses, which may be causing observed ornamental phenotypes in two different aquatic plants. Further, we identified a novel potyvirus that appears to be globally present in multiple ornamental plants from the genus Sagittaria. We detected it in three plants sourced from online stores in Slovenia, as well as six plants intercepted during the import process into the UK. Conclusions Our findings expand on the so far limited knowledge of aquatic plant viruses, revealing known and putative novel plant viral species across diverse aquatic plant taxa. The detection of crop viruses, including regulated pathogens, in ornamental aquatic plants highlights the risks associated with their unregulated global trade. Further research into viruses of aquatic plants may provide insights into their role in ecosystems as well as their potential impact on agriculture.
Ključne besede: aquatic plants, macrophytes, viromes, high-throughput sequencing, data mining, virology
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346. Multiplex quantification of 19 GM soybean lines using digital PCRAmadej Jelenčič, Dejan Štebih, Tina Demšar, David Dobnik, 2026, samostojni znanstveni sestavek ali poglavje v monografski publikaciji Povzetek: The European Union (EU) imposes strict regulations on the presence of genetically modified (GM) material in food and feed, requiring thorough testing of samples for various GM lines. Although traditional quantitative real-time PCR (qPCR) methods are sensitive and robust, they are not cost-effective for managing large numbers of GM events due to their limited multiplexing capabilities. Conversely, digital PCR (dPCR) is capable of robust quantitative multiplexing in addition to other benefits such as absolute quantification and better tolerance of PCR inhibitors. In this context, we present a protocol for multiplex quantification of 19 GM soybean lines using dPCR as an improvement over the currently used simplex qPCR approach. This method enables simple and robust quantification of common GM soybean lines with a relatively low number of reactions.
Ključne besede: genetically modified soybean, GMO, multiplexing, food and feed, food regulation, digital PCR (dPCR)
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347. Strain-controlled superconductivity in epitaxially grown thin films of ▫$1T-TaS_2$▫Yelyzaveta Chernolevska, Anže Mraz, Rok Venturini, Bojan Ambrožič, Tomaž Mertelj, Goran Dražić, Damjan Svetin, Damjan Vengust, Hsin-Chia Ho, Matjaž Spreitzer, Dragan Mihailović, 2025, izvirni znanstveni članek Ključne besede: transition metal dichalcogenides, thin films, molecular beam epitaxy
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348. The European Information System on Forest Genetic Resources (EUFGIS): : a transnational tool for genetic conservation and policy supportMichele Bozzano, Valentina Barbiero, Egbert Beuker, Simone Mori, Mari Rusanen, Ivan Scotti, Milko Skofic, Marjana Westergren, 2025, objavljeni povzetek znanstvenega prispevka na konferenci Ključne besede: forest genetic resources, information system, Europe
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349. Trans fatty acids in margarines and shortenings in the food supply in SloveniaHelena Abramovič, Rajko Vidrih, Emil Zlatić, Doris Kokalj Sinkovič, Matthias Schreiner, Katja Žmitek, Anita Kušar, Igor Pravst, 2018, izvirni znanstveni članek Objavljeno v DiRROS: 26.11.2025; Ogledov: 162; Prenosov: 82
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350. Signalling network construction for modelling plant defence responseDragana Miljković, Tjaša Stare, Igor Mozetič, Vid Podpečan, Marko Petek, Kamil Witek, Marina Dermastia, Nada Lavrač, Kristina Gruden, 2012, izvirni znanstveni članek Objavljeno v DiRROS: 26.11.2025; Ogledov: 123; Prenosov: 55
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