Publications by authors named "A H Cebi"
Background/aim: To investigate the association between the rs2267437, rs5751129 and rs132770 polymorphisms of the gene, which plays a role in repairing DNA double-strand breaks, and the risk of papillary thyroid carcinoma (PTC).
Materials And Methods: The study included 150 patients who had been diagnosed with PTC and 204 healthy controls. Genotyping of the SNPs was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
Intellectual disability (ID) is defined as a severe impairment in reasoning, learning, and problem-solving abilities along with adaptive behavior that occurs before the age of 18 years. The present study aimed to present the clinical and genetic data of a cohort of Turkish pediatric patients diagnosed with the ultrarare (which only up to 20 cases having been reported in the relevant literature thus far) ID phenotype. A total of 29 patients from 26 different families, who were diagnosed with ultrarare ID upon whole exome sequencing (WES) analysis, were included in the study.
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- - SGSM proteins are small modulators that interact with proteins in the RAS signaling pathway and are highly expressed in the brain during different developmental stages.
- - The SGSM3 gene, initially linked to intellectual disability (ID) in Ashkenazi Jewish families, has a newly identified harmful variation found in two siblings with ID and short stature.
- - The identification of bi-allelic loss-of-function variants in SGSM3 across diverse populations suggests its role as a candidate gene for nonsyndromic ID, necessitating further studies to understand how these gene variations impact neuron function and related signaling pathways.
Familial mediterranean fever (FMF) is a genetic autoinflammatory disease typically diagnosed in childhood. In this study, we aimed to investigate the demographic, clinical, and genetic characteristics of patients aged 18 years and older who were diagnosed with FMF. Patients diagnosed with FMF between 2014 and 2022 at Karadeniz Technical University Faculty of Medicine Hospital were included in the study.
View Article and Find Full Text PDFInducing Effect of Corylus avellana on Cytotoxic Activity in Lung and Breast Cancer Cells via Apoptosis.
Plant Foods Hum Nutr
September 2024
Turkish hazelnut (Corylus avellana L. cv Tombul) is a widely used nut in the chocolate industry and is also rich in polyphenol content, which promises anticancer effects. The anti-cancer and apoptotic effects of hazelnut leaves extracts examined on lung and breast cancer cells.
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