WoS İndeksli Yayınlar Koleksiyonu
Permanent URI for this collectionhttps://hdl.handle.net/20.500.12573/394
Browse
6 results
Search Results
Article Bi-Allelic Variants in OLA1 Cause a Neurodevelopmental Disorder with Joint Hypermobility(Cell Press, 2026-04) Cevik, Sebiha; Alzahrani, Fatema; Sezer, Abdullah; AlAbdi, Lama; Demir, Zanyar; Abdullah, Nor Linda; Alkuraya, Fowzan S.Cytoskeletal organization, cell adhesion, and cell motility are key to neuronal development and functional synapses. Obg-like ATPase 1 (OLA1) regulates cell-matrix adhesion by modulating focal adhesion kinase (FAK) levels, therefore regulating cytoskeletal dynamics and cell motility. To date, however, no Mendelian phenotypes in humans have been linked to OLA1. We identified fourteen individuals from nine families in whom hypermobility-neurodevelopmental disorder with distinct facies is linked to bi-allelic deleterious variants in OLA1. The hypermobility phenotype evoked a diagnosis of Ehlers-Danlos syndrome (EDS) in some affected individuals. The loss-of-function nature of these variants is confirmed in proband-derived fibroblasts, recapitulating the impaired migration and proliferation phenotype previously described in OLA1-deficient cells. To explore the pathogenesis of abnormal neurodevelopment in our probands, we investigated neurons derived from proband fibroblasts and identified impaired adhesion and cytoskeletal control. Modeling ola-1 deficiency in C. elegans revealed reduced neurite numbers compared to the wild type. Additionally, transcriptomic analysis of the ola-1-deficient worms suggested that dysregulation of key signaling pathways results in suppression of microtubule dynamics and axon regrowth, ultimately crippling the regenerative competence of mutant animals compared to wild-type controls. Our results support an autosomal-recessive OLA1-related hypermobility-neurodevelopmental disorder and suggest that dysregulation of key signaling pathways results in the suppression of microtubule dynamics as a potential underlying mechanism.Article Citation - WoS: 7Citation - Scopus: 8The Effect of Lockdown on Students' Performance: A Comparative Study Between Italy, Sweden and Turkey(Cell Press, 2023-06) Casalone, Giorgia; Michelangeli, Alessandra; Osth, John; Turk, UmutDuring the first months of the COVID-19 outbreak, countries adopted different strategies in order to mitigate the effects of the pandemic, ranging from recommendations to limit individual movement to severe lockdown measures. Regarding higher education, university studies were shifted to digital solutions in most countries. The sudden move to online teaching affected stu-dents differently, depending on the overall mitigation strategies applied. Severe lockdown and closure measures caused a disruption of their academic and social interactions. In contrast, rec-ommendations to limit activities probably did not change students' life to a great extent. The heterogeneity of the policies adopted in three countries (Italy, Sweden and Turkey) gives us an opportunity to assess the effects of lockdown measures due to the COVID-19 pandemic on uni-versity students' performance. We employ a difference-in-differences approach by exploiting the fact that Italy and Turkey experienced national lockdowns, while Sweden never applied nation-wide mandatory restrictive policies. We use administrative data from universities in the three countries to estimate the probability to pass exams after the spread of COVID-19 pandemic (and the shift to distance education), with respect to the previous comparable period. We find that the pass rate decreased with the shift to online teaching. However, lockdown measures, especially if very restrictive as those applied in Italy, helped to compensate such negative effect. A possible explanation is that students took advantage of the huge increase in the time available for their studies, given the impossibility to carry out any activity outside the home.Article Citation - WoS: 3Citation - Scopus: 9Probabilistic Assessment of Wind Power Plant Energy Potential Through a Copula-Deep Learning Approach in Decision Trees(Cell Press, 2024-04) Sahin, Kubra Nur; Sutcu, MuhammedIn the face of environmental degradation and diminished energy resources, there is an urgent need for clean, affordable, and sustainable energy solutions, which highlights the importance of wind energy. In the global transition to renewable energy sources, wind power has emerged as a key player that is in line with the Paris Agreement, the Net Zero Target by 2050, and the UN 2030 Goals, especially SDG-7. It is critical to consider the variable and intermittent nature of wind to efficiently harness wind energy and evaluate its potential. Nonetheless, since wind energy is inherently variable and intermittent, a comprehensive assessment of a prospective site's wind power generation potential is required. This analysis is crucial for stakeholders and policymakers to make well-informed decisions because it helps them assess financial risks and choose the best locations for wind power plant installations. In this study, we introduce a framework based on Copula-Deep Learning within the context of decision trees. The main objective is to enhance the assessment of the wind power potential of a site by exploiting the intricate and non-linear dependencies among meteorological variables through the fusion of copulas and deep learning techniques. An empirical study was carried out using wind power plant data from Turkey. This dataset includes hourly power output measurements as well as comprehensive meteorological data for 2021. The results show that acknowledging and addressing the non-independence of variables through innovative frameworks like the Copula-LSTM based decision tree approach can significantly improve the accuracy and reliability of wind power plant potential assessment and analysis in other real-world data scenarios. The implications of this research extend beyond wind energy to inform decision-making processes critical for a sustainable energy future.Article Citation - WoS: 24Citation - Scopus: 26Management of Electroluminescence From Silver-Doped Colloidal Quantum Well Light-Emitting Diodes(Cell Press, 2022-05) Liu, Baiquan; Sharma, Manoj; Yu, Junhong; Wang, Lin; Shendre, Sushant; Sharma, Ashma; Demir, Hilmi VolkanImpurity doping is a promising strategy to afford colloidal nanocrystals exhibiting novel optical, catalytic, and electronic characteristics. However, some significant properties of noble metal-doped nanocrystals (NMD-NCs) remain unknown. Here, we report the electroluminescence (EL) from NMD-NCs. By doping silver impurity into cad. mium selenide colloidal quantum wells (CQWs), dual-emission emitters are achieved and a light-emitting diode (LED) with a luminance of 1,339 cd m(-2) is reported. In addition, the proposed energy gap engineering to manage exciton recombination is a feasible scheme for tunable EL emissions (e.g., the dopant emission is tuned from 606 to 761 nm). Furthermore, an organic-inorganic hybrid white LED based on CQWs is realized, reaching a color rendering index of 82. Moreover, flexible CQW-LEDs are reported. The findings present a step to unveil the EL property of NMD-NCs, which can be extended to other noble metal impurities, and pave the pathway for NMD-NCs as a class of electronic materials for EL applications.Article Citation - WoS: 16Citation - Scopus: 17Efficient Generation of Emissive Many-Body Correlations in Copper-Doped Colloidal Quantum Wells(Cell Press, 2022-09) Yu, Junhong; Sharma, Manoj; Li, Mingjie; Liu, Baiquan; Hernandez-Martinez, Pedro Ludwig; Delikanli, Savas; Dang, CuongColloidal quantum wells (CQWs) provide an appealing platform to achieve emissive many-body correlations for novel optoelectronic devices, given that they act as hosts for strong carrier Coulomb interactions and present suppressed Auger recombination. However, the demonstrated high-order excitonic emission in CQWs requires ultrafast pumping with high excitation levels and can only be spec-trally resolved at the single-particle level under cryogenic condi-tions. Here, through systematic investigation using static power -dependent emission spectroscopy and transient carrier dynamics, we show that Cu-doped CdSe CQWs exhibit continuous-wave -pumped high-order excitonic emission at room temperature with a large binding energy of X64 meV. We attribute this unique behavior to dopant excitons in which the ultralong lifetime and the highly localized wavefunction facilitate the formation of many-body corre-lations. The spectrally resolved high-order excitonic emission gener-ated at power levels compatible with solar irradiation and electrical injection might pave the way for novel solution-processed solid-state devices.Article Citation - WoS: 2Citation - Scopus: 2ARL13B Regulates Juxtaposed Cilia-Cilia Elongation in BBSome Dependent Manner in Caenorhabditis Elegans(Cell Press, 2025-02) Turan, Merve Gul; Kantarci, Hanife; Cevik, Sebiha; Kaplan, Oktay I.The interaction of cilia with various cellular compartments, such as axons, has emerged as a new form of cellular communication. Cilia often extend in proximity to cilia from neighboring cells. However, the mechanisms driving this process termed juxtaposed cilia-cilia elongation (JCE) remain unclear. We use fluorescence-based visualization to study the mechanisms of coordinated cilia elongation in sensory neurons of Caenorhabditis elegans. Conducting a selective gene-based screening strategy reveals that ARL-13/ARL13B and MKS-5/RPGRIP1L are essential for JCE. We demonstrate that ARL-13 modulates JCE independently of cilia length. Loss of NPHP-2/inversin along with HDAC-6 enhances the cilia misdirection phenotype of arl-13 mutants, while disruption of the BBSome complex, but not microtubule components, partially suppresses the JCE defects in arl-13 mutants. We further show changes in the phospholipid compositions in arl-13 mutants. We suggest that ARL-13 contributes to JCE, in part, through the modulation of the ciliary membrane.