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  • Publication
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    Default mode and dorsal attention network involvement in visually guided motor sequence learning
    (2022-01-01T00:00:00Z) Eryurek, Kardelen; Ulasoglu-Yildiz, Cigdem; MATUR, ZELİHA; Oge, A. Emre; Gurvit, Hakan; Demiralp, Tamer; MATUR, ZELİHA
    Motor sequence learning (MSL) paradigms are often used to investigate the neural processes underlying the acquisition of complex motor skills. Behavioral and neuroimaging studies have indicated an early stage in which spatial learning is prominent and a late stage of automatized performance after multiple training periods. Functional magnetic resonance imaging (fMRI) studies yielded both decreased and increased activations of the sensorimotor and association areas. However, task-negative and task-positive intrinsic connectivity networks (ICNs), the default mode (DMN) and dorsal attention (DAN) networks involved in governing attention demands during various task conditions were not specifically addressed in most studies. In the present fMRI study, a visually guided MSL (VMSL) task was used for bringing roles of visuospatial and motor attention into foreground in order to investigate the role of attention-related ICNs in MSL. Seventeen healthy, righthanded participants completed training and test sessions of VMSL during fMRI on the 1st day. Then, after daily training for three consecutive days outside the scanner, they were re-tested during the 5th day-s scanning session. When test session after early learning period was compared with training session, activation decrease was observed in the occipito-temporal fusiform cortex, while task-related suppression of DMN was reduced. Reduced deactivation after early learning was correlated with decreased error rates. After late learning stage we observed activation decreases in bilateral superior parietal lobules of task-positive DAN, dorsal precunei, and cerebellum. Reduced activity in left posterior parietal and right cerebellar regions were correlated with gains in speed, error rate, respectively. This dissociation in activity changes of DMN and DAN related areas suggests that DAN shows high contribution during both early and late MSL stages, possibly due to attention requirement for automatization of spatial and temporal aspects of motor sequence. In contrast, spatial learning occurring during early MSL stage was sufficient for releasing DMN resources. (c) 2021 Elsevier Ltd. All rights reserved.
  • Publication
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    DIAGNOSTIC PERFORMANCE OF PERCUTANEOUS CT-GUIDED BONE BIOPSY: OUR SINGLE CENTER RESULTS
    (2021-05-30T00:00:00Z) YILMAZ, TEMEL FATİH; YILMAZ, TEMEL FATİH
  • Publication
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    The genetic structure of the Turkish population reveals high levels of variation and admixture
    (2021-09-01T00:00:00Z) Kars, M. Ece; Basak, A. Nazli; ONAT, ONUR EMRE; Bilguvar, Kaya; Choi, Jungmin; Itan, Yuval; ÇAĞLAR, CANER; Palvadeau, Robin; Casanova, Jean-Laurent; Cooper, David N.; Stenson, Peter D.; Yavuz, Alper; Bulus, Hakan; Gunel, Murat; Friedman, Jeffrey M.; ÖZÇELİK, TAYFUN; ÇAĞLAR, CANER
    The construction of population-based variomes has contributed substantially to our understanding of the genetic basis of human inherited disease. Here, we investigated the genetic structure of Turkey from 3,362 unrelated subjects whose whole exomes (n = 2,589) or whole genomes (n = 773) were sequenced to generate a Turkish (TR) Variome that should serve to facilitate disease gene discovery in Turkey. Consistent with the history of present-day Turkey as a crossroads between Europe and Asia, we found extensive admixture between Balkan, Caucasus, Middle Eastern, and European populations with a closer genetic relationship of the TR population to Europeans than hitherto appreciated. We determined that 50% of TR individuals had high inbreeding coefficients (>= 0.0156) with runs of homozygosity longer than 4 Mb being found exclusively in the TR population when compared to 1000 Genomes Project populations. We also found that 28% of exome and 49% of genome variants in the very rare range (allele frequency < 0.005) are unique to the modern TR population. We annotated these variants based on their functional consequences to establish a TR Variome containing alleles of potential medical relevance, a repository of homozygous loss-of-function variants and a TR reference panel for genotype imputation using high-quality haplotypes, to facilitate genome-wide association studies. In addition to providing information on the genetic structure of the modern TR population, these data provide an invaluable resource for future studies to identify variants that are associated with specific phenotypes as well as establishing the phenotypic consequences of mutations in specific genes.
  • Publication
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    Walking training augments the effects of expiratory muscle training in Parkinson-s disease.
    (2021-08-30T00:00:00Z) Oguz, Semra; Gurses, Hülya Nilgün; Kuran Aslan, Goksen; Demir, Rengin; Ozyilmaz, Semiramis; Karantay Mutluay, Fatma; Apaydin, Hulya; GÜRSES, HÜLYA NILGÜN; ÖZYILMAZ, SEMIRAMIS
  • Publication
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    Copy Number Variation Analysis with Next Generation Sequencing
    (2020-12-14T00:00:00Z) Uyanik, Bülent; Canbek, Sezin; UYANIK, BÜLENT
    Copy Number Variation Analysis with Next Generation Sequencing Bülent Uyanık1 , Sezin Canbek2 1 Bezmialem Vakıf Üniversitesi Tıp Fakültesi Tıbbi Genetik ABD. 2 Sağlık Bilimleri Üniversitesi Ümraniye Eğitim ve Araştırma Hastanesi Tıbbi Genetik Bölümü Objective: Aim of this study is present our medical genetics patients which have CNV mutations detected with NGS. Materials-Methods: We used The Clinical Exome Solution V2 kit (Sophia Genetics SA, Saint-Sulpice, Switzerland) for exome enrichment, with all procedures carried out according to the manufacturer’s protocols. This capture-based target enrichment kit covers 4490 genes with known inherited diseases causing mutations. Paired-end sequencing was performed on a NextSeq 500 system (Illumina, San Diego, CA, USA) with a read length of 150 x 2, while the base calling and image analysis were conducted using Real-Time Analysis (integrated to the NextSeq 500 system; Illumina) software. The BCL (base calls) binary is converted into FASTQ utilizing the Illumina package bcl2fastq. All bioinformatic analyses were performed on a Sophia DDM™ platform (Sophia Genetics SA), which includes algorithms for alignment, calling single nucleotide polymorphisms (SNPs) and small insertions/deletions (Pepper™, Sophia Genetics SA patented algorithm),calling copy number variations (Muskat™, Sophia Genetics SA patented algorithm). Results: This study shows that the next generation DNA sequencing method (with Sophia DDM ™) can display SNV, additionally heterozygous and homozygous deletions and duplications from single exonic to chromosomal levels. Conclusion: CNV analysis with NGS is an invaluable contribution to clinical practice. Keywords: CNV, NGS