PubMed İndeksli Yayınlar Koleksiyonu
Permanent URI for this collectionhttps://hdl.handle.net/20.500.12573/397
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Article Citation - WoS: 4Citation - Scopus: 4Integrated Querying and Version Control of Context-Specific Biological Networks(Oxford Univ Press, 2020) Cowman, Tyler; Coskun, Mustafa; Grama, Ananth; Koyuturk, MehmetMotivation: Biomolecular data stored in public databases is increasingly specialized to organisms, context/pathology and tissue type, potentially resulting in significant overhead for analyses. These networks are often specializations of generic interaction sets, presenting opportunities for reducing storage and computational cost. Therefore, it is desirable to develop effective compression and storage techniques, along with efficient algorithms and a flexible query interface capable of operating on compressed data structures. Current graph databases offer varying levels of support for network integration. However, these solutions do not provide efficient methods for the storage and querying of versioned networks. Results: We present VerTIoN, a framework consisting of novel data structures and associated query mechanisms for integrated querying of versioned context-specific biological networks. As a use case for our framework, we study network proximity queries in which the user can select and compose a combination of tissue-specific and generic networks. Using our compressed version tree data structure, in conjunction with state-of-the-art numerical techniques, we demonstrate real-time querying of large network databases. Conclusion: Our results show that it is possible to support flexible queries defined on heterogeneous networks composed at query time while drastically reducing response time for multiple simultaneous queries. The flexibility offered by VerTIoN in composing integrated network versions opens significant new avenues for the utilization of ever increasing volume of context-specific network data in a broad range of biomedical applications. Availability and Implementation: VerTIoN is implemented as a C++ library and is available at http://compbio.case.edu/omics/software/vertion and https://github.com/tjcowman/vertion Contact: tyler.cowman@case.eduArticle Citation - WoS: 5Citation - Scopus: 6Genetic Variants in Genes Correlated to the PI3K/AKT Pathway: The Role of ARAP3, CDH5, KIF and RELN Primary Lymphedema(International Society of Lymphology, 2024-08-28) Dundar, Mehmet Sait; Belanová, I.; Bonetti, Gabriele; Gelanová, V.; Kozáčiková, R.; Vešelényiová, Dominika; Donato, Kevin; Michelini, S.Genetic anomalies affecting lymphatic development and function can lead to lymphatic dysfunction, which could manifest as lymphedema- Understanding the signaling pathways governing lymphatics function is crucial for developing targeted diagnostic and therapeutic interventions. This study aims to characterize genetic variants in genes involved in the PUKIAKT signaling pathway, which plays a critical role in lymphangiogenesis. 408 patients diagnosed with primary lymphedema were sequenced usinga next-generation sequencing (NGS) gene panel composed of 28 diagnostic genes and 71 candidate genes. The analysis revealed six variants in genes RFLN, ARAP3,CDHS and K1F11. Five of these variants have never been reported in the literature. All these genes have been correlated to lymphatic activity and are involved in the P13K/AKT pathway. As the P13K/AKT signaling pathway plays an essential role in lymphangiogenesis and lymphatic function, genetic variants in genes correlated to this pathway could lead to lymphedema. Our findings underscore the potential of the P13K/AKT pathway in lymphedema pathogenesis, supporting the role of RELN,ARAP3,CDH5,and KIF11 as diagnostic and therapeutic targets. © 2024 Elsevier B.V., All rights reserved.