PubMed İndeksli Yayınlar Koleksiyonu
Permanent URI for this collectionhttps://hdl.handle.net/20.500.12573/397
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Article 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.Article Citation - WoS: 5Genetic Variants in Genes Correlated to the PI3K/AKT Pathway: The Role of ARAP3, CDH5, KIF22 and RELN in Primary Lymphedema(Lymphology, 2023) Dundar, M. S.; Belanova, I.; Bonetti, G.; Gelanova, V.; Kozacikova, R.; Veselenyiova, D.; Michelini, S.Genetic anomalies affecting lymphatic development and function can lead to lym- phatic 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 PI3K/AKT signaling pathway, which plays a critical role in lymphangiogenesis. 408 patients diagnosed with primary lymphedema were sequenced using a next-generation se- quencing (NGS) gene panel composed of 28 diagnostic genes and 71 candidate genes. The analysis revealed six variants in genes RELN, ARAP3, CDH5, and KIF11. Five of these vari- ants have never been reported in the literature. All these genes have been correlated to lym- phatic activity and are involved in the PI3K/ AKT pathway. As the PI3K/AKT signaling pathway plays an essential role in lymphangio- genesis and lymphatic function, genetic vari- ants in genes correlated to this pathway could lead to lymphedema. Our findings underscore. the potential of the PI3K/AKT pathway in lymphedema pathogenesis, supporting the role of RELN, ARAP3, CDH5, and KIF11 as diag- nostic and therapeutic targets.Article Citation - WoS: 3Citation - Scopus: 4Clinical Probe Utilizing Surface Enhanced Raman Scattering(A V S Amer Inst Physics, 2014-09-26) Kim, Jeonghwan; Hah, Dooyoung; Daniels-Race, Theda; Feldman, MartinConventional Raman scattering is a well-known technique for detecting and identifying complex molecular samples. In surface enhanced Raman scattering, a nanorough metallic surface close to the sample enormously enhances the Raman signal. In previous work, the metallic surface was a thin layer of gold deposited on a rough transparent epoxy substrate. The advantage of the clear substrate was that the Raman signal could be obtained by passing light through the substrate, on to opaque samples simply placed against its surface. In this work, a commercially available Raman spectrometer was coupled to a distant probe. Raman signals were obtained from the surface, and from the interior, of a solid specimen located more than 1 m away from the spectrometer. The practical advantage of this arrangement is that it opens up surface enhanced Raman spectrometry to a clinical environment, with a patient simply sitting or lying near the spectrometer. (C) 2014 American Vacuum Society.