Browsing by Author "Alagöz, Meryem"
Now showing items 1-9 of 9
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Advance genome editing technologies in the treatment of human diseases: CRISPR therapy (Review)
Alagöz, Meryem; Kherad, Nasim (Spandidos Publications, 06.05.2020)Genome editing techniques are considered to be one of the most challenging yet efficient tools for assisting therapeutic approaches. Several studies have focused on the development of novel methods to improve the efficiency ... -
Glioblastoma multiforma tedavisinde kanser kök hücrelerinin temozolomide karşı oluşturdukları direnç
Alagöz, Meryem (Sakarya Üniversitesi, 2018)Amaç Glioblastoma multiform (GBM), primer beyin tümörleri arasında en sık görülen agresif bir malign kanser türüdür. Bu hastalığın tedavisinde karşılaşılan en büyük zorluk tümörün kendi doğasındaki karmaşıklık ve ilaç ... -
The new CIC mutation associates with mental retardation and severity of seizure in Turkish child with a rare class I glucose-6-phosphate dehydrogenase deficiency
Alagöz, Meryem; Kherad, Nasim; Günger, Ezgi; Kaymaz, Selin; Yüksel, Adnan (Springer Nature Switzerland, 13.06.2020)Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disease that causes acute or chronic hemolytic anemia and potentially leads to severe jaundice in response to oxidative agents. Capicua transcriptional ... -
New genetic approaches for early diagnosis and treatment of autism spectrum disorders
Alagöz, Meryem; Kherad, Nasim; Gavaz, Meral; Yüksel, Adnan (Springer Nature Switzerland, 2019)Autism spectrum disorders (ASD) are common heterogeneous neurodevelopmental disorders, characterized by disruptions in social interactions, communication, and limitations in behavior. Early diagnosis is an important step ... -
New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review
Alagöz, Meryem; Kherad, Nasim; Bozkurt, Süreyya; Yüksel, Adnan (Pawel Pomorski and Polish Biochemical Society, 2020)Purpose. Early infantile epileptic encephalopathy (EIEE) 57 belongs to a group of encephalopathies with earlyonset and characterised by severe electroencephalogram abnormalities, seizures, developmental delay and intellectual ... -
A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole‑exome sequencing
Alagöz, Meryem; Kherad, Nasim; Türkmen, Selda; Bulut, Hatice; Yüksel, Adnan (Spandidos Publications, 09.04.2020)Abstract. The condition 3-methylglutaconic aciduria (3-MGA) with deafness, encephalopathy and Leigh-like (MEGDEL) syndrome, also known as 3-MGA IV, is one of a group of five rare metabolic disorders characterized by ... -
RNA sequencing and its applications in cancer and rare diseases
Ergin, Selvi; Kherad, Nasim; Alagöz, Meryem (Springer, 2022)With the invention of RNA sequencing over a decade ago, diagnosis and identification of the gene-related diseases entered a new phase that enabled more accurate analysis of the diseases that are difficult to approach and ... -
SETBP1 geninde mental retardasyon tip 29 sendromuyla ılişkili yeni mutasyon tanımlanması: Olgu sunumu
Alagöz, Meryem; Günger, Ezgi; Yüksel, Adnan (Sakarya Üniversitesi, 2019)Mental retardasyon genetik ve çevresel faktörlerin etkileri sonucu ortaya çıkan konjenital anomalilerdir. Genetik bozuklukların mental retardasyonun gelişmesindeki etkinliği göz önüne alındığında genetik tanının hastalığın ... -
The use of aniline blue chromatin condensation test on prediction of pregnancy in mild male factor and unexplained male infertility
İrez, Tülay; Dayıoğlu, Nurten; Alagöz, Meryem; Karataş, Suat; Güralp, Onur (WILEY, 2018)The aim of this study was to investigate the possibility of using sperm function tests (hypoosmotic swelling test [HOS], aniline blue [AB] staining test, and sperm chromatin dispersion [SCD]) to predict intrauterine ...
