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- Ozantürk, Ayşegül, et al.
(author)
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The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey
- 2015
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In: International Journal of Human Genetics. - New York, USA : Nature Publishing Group. - 0972-3757 .- 1434-5161 .- 1435-232X. ; 60:1, s. 1-9
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Journal article (peer-reviewed)abstract
- Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. Alstrom Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought to have a role in microtubule organization, intraflagellar transport, endosome recycling and cell cycle regulation. Here, we report extensive phenotypic and genetic analysis of a large cohort of Turkish patients with ALMS. We evaluated 61 Turkish patients, including 11 previously reported, for both clinical spectrum and mutations in ALMS1. To reveal the molecular diagnosis of the patients, different approaches were used in combination, a cohort of patients were screened by the gene array to detect the common mutations in ALMS1 gene, then in patients having any of the common ALMS1 mutations were subjected to direct DNA sequencing or next-generation sequencing for the screening of mutations in all coding regions of the gene. In total, 20 distinct disease-causing nucleotide changes in ALMS1 have been identified, eight of which are novel, thereby increasing the reported ALMS1 mutations by 6% (8/120). Five disease-causing variants were identified in more than one kindred, but most of the alleles were unique to each single patient and identified only once (16/20). So far, 16 mutations identified were specific to the Turkish population, and four have also been reported in other ethnicities. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare and probably or likely deleterious according to in silico mutation prediction analyses. ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alstrom Syndrome and contribute to genotype-phenotype correlation studies.
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| 3. |
- Abut, Hüseyin, et al.
(author)
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Real-World Data Collection with UYANIK
- 2009
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In: In-Vehicle Corpus and Signal Processing for Driver Behavior. - Boston, MA : Springer. - 9780387795812 - 9780387795829 ; , s. 23-44
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Book chapter (other academic/artistic)
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| 4. |
- Agirre, Joseba A, et al.
(author)
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Multidimensional Framework for Characterizing Verification and Validation of Automated Systems
- 2022
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In: 18<sup>th</sup> European dependable computing conference (EDCC 2022).
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Conference paper (peer-reviewed)abstract
- Verification and Validation (V&V) of automated systems is becoming more costly and time-consuming because of the increasing size and complexity of these systems. Moreover, V&V of these systems can be hindered if the methods and processes are not properly described, analysed, and selected. It is essential that practitioners use suitable V&V methods and enact adequate V&V processes to confirm that these systems work as intended and in a cost-effective manner. Previous works have created different taxonomies and models considering different aspects of V&V that can be used to classify V&V methods and tools. The aim of this work is to provide a broad, comprehensive and a easy to use framework that addresses characterisation needs, rather than focusing on individual aspects of V&V methods and processes.To this end, in this paper, we present a multi-domain and multi-dimensional framework to characterize and classify V&V methods and tools in a structured way. The framework considers a comprehensive characterization of different relevant aspects of V&V. A web-based repository has been implemented on the basis of the framework, as an example of use, in order to collect information about the application of V&V methods and tools. This way, practitioners and researchers can easily learn about and identify suitable V&V processes.
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| 5. |
- Bauer, Thomas, et al.
(author)
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Cross-domain Modelling of Verification and Validation Workflows in the Large Scale European Research Project VALU3S
- 2021
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In: Lecture Notes in Computer Science. - Cham : Springer. ; , s. 386-382
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Conference paper (peer-reviewed)abstract
- The complexity of systems continues to increase rapidly, especially due to the multi-level integration of subsystems from different domains into cyber-physical systems. This results in special challenges for the efficient verification and validation (V&V) of these systems with regard to their requirements and properties. In order to tackle the new challenges and improve the quality assurance processes, the V&V workflows have to be documented and analyzed. In this paper, a novel approach for the workflow modelling of V&V activities is presented. The generic approach is tailorable to different industrial domains and their specific constraints, V&V methods, and toolchains. The outcomes comprise a dedicated modelling notation (VVML) and tool-support using the modelling framework Enterprise Architect for the efficient documentation and implementation of workflows in the use cases. The solution enables the design of re-usable workflow assets such as V&V activities and artifacts that are exchanged between workflows. This work is part of the large scale European research project VALU3S that deals with the improvement and evaluation of V&V processes in different technical domains, focusing on safety, cybersecurity, and privacy properties.
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| 6. |
- de la Vara, Jose Luis, et al.
(author)
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A Proposal for the Classification of Methods for Verification and Validation of Safety, Cybersecurity, and Privacy of Automated Systems
- 2021
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In: 14th International Conference on the Quality of Information and Communications Technology (QUATIC 2021).
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Conference paper (peer-reviewed)abstract
- As our dependence on automated systems grows, so does the need for guaranteeing their safety, cybersecurity, and privacy (SCP). Dedicated methods for verification and validation (V&V) must be used to this end and it is necessary that the methods and their characteristics can be clearly differentiated. This can be achieved via method classifications. However, we have experienced that existing classifications are not suitable to categorise V&V methods for SCP of automated systems. They do not pay enough attention to the distinguishing characteristics of this system type and of these quality concerns. As a solution, we present a new classification developed in the scope of a large-scale industry-academia project. The classification considers both the method type, e.g., testing, and the concern addressed, e.g., safety. Over 70 people have successfully used the classification on 53 methods. We argue that the classification is a more suitable means to categorise V&V methods for SCP of automated systems and that it can help other researchers and practitioners.
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| 7. |
- Kocyigit, Ismail, et al.
(author)
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Dysmetabolic markers predict outcomes in autosomal dominant polycystic kidney disease
- 2019
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In: Clinical and Experimental Nephrology. - : Springer Science and Business Media LLC. - 1342-1751 .- 1437-7799. ; 23:9, s. 1130-1140
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Journal article (peer-reviewed)abstract
- Background: Overweight and obesity were recently associated with a poor prognosis in patients with autosomal dominant polycystic kidney disease (ADPKD). Whether the metabolic consequences of obesity as defined by the metabolic syndrome (MS) are also linked with disease progression remains untested. Methods: Eligible ADPKD patients with different stages of CKD (n = 105) and 105 non-diabetic controls matched for CKD stage were enrolled in the study. Groups were evaluated at baseline for presence of MS, blood markers of metabolism, homeostasis model assessment of insulin resistance (HOMA-IR) score, and biochemical markers of inflammation (hs-CRP, IL-1β, IL-6, TNF-α and PON-1). MS was defined according to the National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATP III). Patients were followed for 12 months and progression defined as a decrease in baseline eGFR > 10%. Results: MS and hypertension were more prevalent amongst ADPKD patients than in the control group. Meanwhile, markers of inflammation such as hs-CRP (3.63 [3.45–5.17] vs. 4.2 [3.45–8.99] mg/dL; p = 0.014), IL-6 (21.65 [14.1–27.49] vs. 24.9 [16.23–39.4] pg/mL; p = 0.004) and IL-1β (21.33 [15.8–26.4] vs. 26.78 [18.22–35] pg/mL; p < 0.001) levels were all more elevated in ADPKD patients than in non-diabetic CKD subjects. In multivariate analysis having a truncating PKD1 mutation predicted (OR 1.25 [1.09–1.43]; p = 0.002) fulfilling the MS criteria. Finally, ADPKD patients fulfilling MS criteria had a significantly more rapid progression during 12 months of follow-up than did those that did not (OR 3.28 [1.09–9.87]; p = 0.035). Conclusions: Our data supports the notion that dysmetabolisms part of the ADPKD phenotype and associated with a poor outcome, especially in patients with a truncating PKD1 mutation.
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