Browsing Araştırma Çıktıları | TR-Dizin | WoS | Scopus | PubMed by Department "AFSÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı"
Now showing items 1-20 of 24
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Boron ameliorates arsenic-induced DNA damage, proinflammatory cytokine gene expressions, oxidant/antioxidant status, and biochemical parameters in rats
(Wiley, 2019)Arsenic, an element found in nature, causes hazardous effects on living organisms. Meanwhile, natural compounds exhibit protective effects against hazardous substances. This study evaluated the effects of boron against ... -
Boron, a Trace Mineral, Alleviates Gentamicin-Induced Nephrotoxicity in Rats
(Humana Press Inc, 2020)The present study was considered to assess the protective effects of boron (B) on gentamicin-induced oxidative stress, proinflammatory cytokines, and histopathological changes in rat kidneys. Rats were split into eight ... -
A case of spastic paraplegia type 11 with a variation in the SPG11 gene
(Springer, 2020)Background: Spastic paraplegia 11 (SPG11) is defined as progressive spasticity and weakness of the lower limbs and also associated with mild intellectual disability with learning difficulties in childhood and/or progressive ... -
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
(Springer Science and Business Media Deutschland GmbH, 2022)Familial Mediterranean fever (FMF) is a monogenic autoinfammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. ... -
Cytogenetic analysis in infertile men
(2000)In this report, we present cytogenetic studies in primary infertile men. There are many ethiologic factors in male infertility. Chromosomal abnormalities are involved in these factors. Conventional cytogenetic and molecular ... -
DOWN SENDROMLU OLGULARDA PRENATAL BULGULAR
(Afyonkarahisar Sağlık Bilimleri Üniversitesi, 2021)AMAÇ: Yirmibirinci kromozomun 3 adet olması ile karakterizeolan Down Sendromu, Trizomi 21 olarak da bilinir. Down Sendromu 800 - 1200 kişide bir görülür. Sendrom ilk kez 1846’da tanımlanmıştır. Bu çalışmada amaç, kesin ... -
THE EFFECT OF HEAT SHOCK PROTEIN 90 INHIBITORS ON HISTONE 4 LYSINE 20 METHYLATION IN BLADDER CANCER
(Excli Journal Managing Office, 2019)Heat shock protein 90 (HSP90), an ATP-dependent molecular chaperone required for the stability and function of numerous oncogenic signaling, is one of the hallmarks of cancer. Recent years, the studies showed that HSP90 ... -
Evaluation of cytogenetic and y chromosome microdeletion analyzes in infertile cases
(Elsevier Science Bv, 2019)Objective: The aim of our study is to determine the frequency of chromosome abnormalities and Y chromosome microdeletions which are the causes of primary infertility, in Afyonkarahisar. Materials and methods: Cytogenetic ... -
GELDANAMİSİN VE TRİKOSTATİN A’NIN İNSAN MESANE KANSERİ HÜCRELERİ ÜZERİNE SİNERJİSTİK ETKİSİ
(2018)AMAÇ: Isı şok protein 90 (IŞP), ATP-bağımlı moleküler bir şaperon olup kanserin temel özellikleri olarak tanımlanan çok sayıdaki onkogenik sinyal proteinlerinin stabilitesi ve fonksiyonu için gereklidir. Bu nedenle, IŞP90 ... -
Genetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience
(Georg Thieme Verlag Kg, 2021)Microcephaly is a dysmorphic feature characterized by small head size more than two standard deviations below the mean for age, sex, and ethnicity. There are several etiological factors ranging from environmental toxins ... -
Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing
(Georg Thieme Verlag Kg, 2021)Mucopolysaccharidosis type IIIB (Sanfilippo's B; OMIM no.: 252920) is a lysosomal storage disorder caused by defective degradation of heparan sulfate. The enzyme that has decreased function in this disease is alpha-N ... -
An interesting case: 30-year-old male patient with myotonic dystrophy typeI has got normal CTG repeats sequence in the DMPK gene, but it does not comply with its clinical features
(SPRINGERNATURE, 2020)No Abstract Available -
Investigating changes in β-adrenergic gene expression (ADRB1 and ADRB2) in Takotsubo (stress) cardiomyopathy syndrome; a pilot study
(Springer, 29.10.2021)Background Takotsubo Cardiomyopathy (TC) is a rare disorder that is mostly caused by stress and is often misdiagnosed. We aimed to analyze Takotsubo Syndrome at the molecular level by using the Oxford Nanopore Minion ... -
Investigation of PTEN gene expression levels in patients with different stages and grades of breast cancer
(Erkan Mor, 2023)Background: Breast cancer is the most common malignancy in women that cause death genetic and environmental factors affect the development of breast cancer. In many studies, it has been determined that PTEN is an important ... -
Konvansiyonel Kemoterapötikler ve Isı Şok Protein 90 İnhibitör Kombinasyonunun Mesane Kanseri Hücreleri Üzerine Apoptotik Etkisi
(2019)Amaç Isı şok protein 90 (IŞP90), ATP-bağımlı moleküler şaperonlardır ve hücresel fonksiyonların gerçekleştirilmesinden sorumlu çok sayıda önemli proteinin konformasyonel katlanması ve stabilizasyonu için gereklidir. Bu ... -
Miyotonik Distrofi Hastalarının CTG Tekrar Sayıları ile Genotip ve Klinik Bulguların Değerlendirilmesi: Tek Merkez Deneyimi-Olgu Serisi
(Türkiye Klinikleri, 2021)Amaç: Miyotonik distrofi hastalığı (MD), otozomal dominant genetik geçiş özelliği gösteren, motor, psikiyatrik ve bilişsel içerikli klinik bulgularla karakterize, CTG tekrar dizisi artışıyla ilerleyici nörodejeneratif bir ... -
Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single‑Center Experience
(Springer, 12.08.2021)Sotos syndrome is a non-progressive neurological disease with overgrowing, increased bone age, and developmental retardation. The aim of this study is to evaluate the prenatal, natal, and postnatal clinical fndings of ... -
Proteomic analysis of the anticancer effect of various extracts of endemicThermopsis turcica in human cervical cancer cells
(Turkiye Klinikleri, 2020)Background/aim: Thermopsis turcica is a perennial species endemic to Turkey and different extracts of T. turcica have an antiproliferative effect on cancer cells, but there has not been any report on HeLa (human cervical ... -
Relationship between SIRT1 gene expression level and disease in age-related cataract cases
(2019)Background/aim: Age-related cataract is the most important visual impairment all over the world. Epigenetic modifications, especially overexpression of histone deacetylases, have become the focus of interest for cataract ... -
The road from mutation to next generation phenotyping: contribution of deep learning technology (Face2Gene) to diagnosis neurofibromatosis type 1
(PRUSA MEDICAL PUBLISHING, 2022)Objectives: Genetics is one of the fastest growing medical fields in the last 10 years. While new analysis methods such as Next Generation Sequencing have been developed, the use of artificial intelligence like Face2Gene ...
