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Sökning: WFRF:(Kaya Murat)

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  • Christofer Juhlin, C., et al. (författare)
  • Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene
  • 2015
  • Ingår i: Genes, Chromosomes and Cancer. - : Wiley: 12 months. - 1045-2257 .- 1098-2264. ; 54:9, s. 542-554
  • Tidskriftsartikel (refereegranskat)abstract
    • As subsets of pheochromocytomas (PCCs) lack a defined molecular etiology, we sought to characterize the mutational landscape of PCCs to identify novel gene candidates involved in disease development. A discovery cohort of 15 PCCs wild type for mutations in PCC susceptibility genes underwent whole-exome sequencing, and an additional 83 PCCs served as a verification cohort for targeted sequencing of candidate mutations. A low rate of nonsilent single nucleotide variants (SNVs) was detected (6.1/sample). Somatic HRAS and EPAS1 mutations were observed in one case each, whereas the remaining 13 cases did not exhibit variants in established PCC genes. SNVs aggregated in apoptosis-related pathways, and mutations in COSMIC genes not previously reported in PCCs included ZAN, MITF, WDTC1, and CAMTA1. Two somatic mutations and one constitutional variant in the well-established cancer gene lysine (K)-specific methyltransferase 2D (KMT2D, MLL2) were discovered in one sample each, prompting KMT2D screening using focused exome-sequencing in the verification cohort. An additional 11 PCCs displayed KMT2D variants, of which two were recurrent. In total, missense KMT2D variants were found in 14 (11 somatic, two constitutional, one undetermined) of 99 PCCs (14%). Five cases displayed somatic mutations in the functional FYR/SET domains of KMT2D, constituting 36% of all KMT2D-mutated PCCs. KMT2D expression was upregulated in PCCs compared to normal adrenals, and KMT2D overexpression positively affected cell migration in a PCC cell line. We conclude that KMT2D represents a recurrently mutated gene with potential implication for PCC development. (c) 2015 The Authors. Genes, Chromosomes and Cancer Published by Wiley Periodicals, Inc.
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  • Kaya, Gizem Kuşoğlu, et al. (författare)
  • A Study of Spectral Envelope Method for Multi-Cause Diagnosis using Industrial Data
  • 2021
  • Ingår i: 31<sup>st</sup> European Symposium on Computer Aided Process Engineering. - : Elsevier. ; , s. 1331-1337
  • Konferensbidrag (refereegranskat)abstract
    • Petroleum refineries are complex systems that consist of multiple integrated units. This situation makes it difficult to track down the root cause of abnormal situations that occur during production. It is noted that abnormal situations usually trigger plant-wide oscillations in a number of measured process variables. Therefore, root cause detection is often attempted to be carried out by examining these trends in process data. Observing multiple effects and underlying problems at the same time presents a challenge in determining the root cause by examining trends only. In this study, spectral envelope is used to detect oscillations by identifying the variables and categorizing them based on a statistical hypothesis test which produces Oscillation Contribution Index (OCI) in order to isolate potential root cause variables. Two distinct abnormal events in the hydrocracker unit that occur simultaneously were successfully isolated and the root causes could be assigned by using the spectral envelope analysis.
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