Bölüm "Fakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı" Scopus İndeksli Yayınlar Koleksiyonu için listeleme
Toplam kayıt 15, listelenen: 1-15
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Are Intervertebral Disc Tissue Cells Damaged When Attempting to Prevent Thrombus Formation Using Dabigatran, A New Oral Anticoagulant?
(Turkish Neurosurgical Soc, 2019)AIM: To investigate the effect of dabigatran, a new oral anticoagulant, on human primary cell cultures isolated from intact intervertebral disc tissue. MATERIAL and METHODS: Cell cultures were prepared from tissues obtained ... -
Breast, ovarian and other site cancer patients with BRCA 1/2 mutations: Data from Turkish multicenter retrospective study
(Zerbinis Publications, 2021)Purpose: To demonstrate the clinical and demographic findings of the patients harboring BRCA1/2 mutations with breast, genital tract, prostate and pancreas cancers. Methods: The results of sequencing analysis of 200 cancer ... -
Dual Suppressive Effect of miR-34a on the FOXM1/eEF2-Kinase Axis Regulates Triple-Negative Breast Cancer Growth and Invasion
(Amer Assoc Cancer Research, 2018)Purpose: Recent studies indicated that dysregulation of noncoding KNAs (ncRNA) such as miRNAs is involved in pathogenesis of various human cancers. However, the molecular mechanisms underlying miR-34a are not fully understood ... -
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
(Cell Press, 2015)Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome ... -
Genetic screening results of individuals with high risk BRCA-related breast/ovarian cancer in Trakya region of Turkey
(Imprimatur Publications, 2020)Purpose: Pathogenic/likely pathogenic (P/LP) germline variations in BRCA1 and BRCA2 genes are responsible for the majority of hereditary breast and ovarian cancers. This study presents the BRCA1/BRCA2 sequencing and deletion ... -
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
(Nature Publishing Group, 2016)Purpose:Noonan syndrome (NS) is an autosomal-dominant disorder characterized by craniofacial dysmorphism, growth retardation, cardiac abnormalities, and learning difficulties. It belongs to the RASopathies, which are caused ... -
Investigation of the Relationship Between Genome Wide Association Studies-derived Polymorphisms and Differentiated Thyroid Cancer Risk in a Turkish Population
(Gazi Univ, Fac Med, 2021)Background: Thyroid cancer is the most common malignancy of endocrine system. Genome Wide Association Studies (GWAS) revealed a number of common variants associated with thyroid cancer risk. In this study, we aimed to ... -
Long noncoding RNA ERICD interacts with ARID3A via E2F1 and regulates migration and proliferation of osteosarcoma cells
(Blackwell Publishing Ltd, 2020)Long noncoding RNA (lncRNA) dysregulation is known to be taking part in majority of cancers, including osteosarcoma. In one of our previous studies, we showed that lncRNA MEG3 is being regulated by microRNA-664a (miR-664a) ... -
miR-320a promotes p53-dependent apoptosis of prostate cancer cells by negatively regulating TP73-AS1 in vitro
(Academic Press Inc Elsevier Science, 2022)TP73 antisense RNA 1 (TP73-AS1) is an oncogenic long non-coding RNA that is activated in several types of cancers. It has been shown that the activity of TP73-AS1 is controlled by several miRNAs, but post -transcriptional ... -
Next generation sequencing analysis of BRCA1 and BRCA2 identifies novel variations in breast cancer
(Elsevier Inc., 2020)Mutations in two major breast cancer susceptibility genes, BRCA1 and BRCA2, have been identified to be the most important predisposing factors for the development of breast cancer. Thus, BRCA1/2 testing is a well-established ... -
Next-generation screening of a panel of genes associated with periodic fever syndromes in patients with Familial Mediterranean Fever and their clinical characteristics
(Academic Press Inc., 2020)Familial Mediterranean Fever (FMF) is a hereditary fever syndrome that primarily affects Mediterranean populations. For the study, total number of 182 patients with FMF disease were enrolled and screening of a panel of ... -
A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus
(Elsevier Science Bv, 2016)Al-Awadi-Raas-Rothschild syndrome (AARRS) is a rare autosomal recessive disorder which consists of severe malformations of the upper and lower limbs, abnormal genitalia and underdeveloped pelvis. Here, we present a fetus ... -
Novel thiosemicarbazone derivative 17B interferes with the cell cycle progression and induce apoptosis through modulating downstream signaling pathways
(Elsevier, 2020)Thiosemicarbazones (TSCs) are interesting group of chemical compounds that received significant levels of attention due their wide range of pharmacological effects including antibacterial, antiviral, and especially anti-tumor ... -
Silencing of TP73-AS1 impairs prostate cancer cell proliferation and induces apoptosis via regulation of TP73
(Springer Science and Business Media B.V., 2022)Background: Prostate cancer is a malignant disease that severely affects the health and comfort of the male population. The long non-coding RNA TP73-AS1 has been shown to be involved in the malignant transformation of ... -
An unexpected clinical presentation in periodontal Ehler-Danlos syndrome: preterm birth, profound intellectual disability and self-injurious behavior
(Lippincott Williams & Wilkins, 2023)[Abstract Not Available]