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Your search keyword '"Çetin, Gökhan Ozan"' showing total 2 results
Start Over Author "Çetin, Gökhan Ozan" Topic genetic variation
2 results on '"Çetin, Gökhan Ozan"'

1. A novel mutation in SLURP1 in patients with Mal de Meleda from Turkey.

Author

İmren, Işıl Göğem, Ertürk, Sevilay, Çetin, Gökhan Ozan, and Kaçar, Nida

Subjects
MEDICAL genetics, GENETIC variation, SINGLE nucleotide polymorphisms, EXTENDED families, DNA sequencing, PALMOPLANTAR keratoderma, HYPERHIDROSIS
Abstract

This article discusses a case study of a 2-year-old female patient from Turkey with Mal de Meleda (MDM), a rare form of palmoplantar keratoderma. The patient presented with hyperkeratotic plaques on her palms and soles, which gradually extended to the dorsum of her hands and feet. The article describes the clinical characteristics of MDM, including hyperhidrosis, perioral erythema, and nail dystrophies. A novel mutation in the SLURP1 gene, which is associated with MDM, was identified in the patient. The article emphasizes the need for genetic counseling for affected individuals and their families. [Extracted from the article]

Published
2024
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2. Mutational status of EZH2 and CD79B hot spots in mature B-cell non-Hodgkin's lymphomas: Novel CD79B variations have been revealed

Author

Çetin Gökhan Ozan, Barış, İkbal Cansu, Caner, Vildan, Sarıkepe, Bilge, Şen Türk, Nilay, Tepeli, Emre, Hacıoglu, Sibel, Sarı , Hakan İsmail, Bagcı, Gülseren, and Keskin, Ali

Subjects
mutational analysis, single nucleotide variation, Male, Lymphoma, B-Cell, genetic association, very elderly, transcription factor EZH2, DNA sequence, CD79B, Antigens, CD79, gene frequency, high risk patient, Article, Cohort Studies, middle aged, Humans, EZH2 gene, controlled study, Enhancer of Zeste Homolog 2 Protein, genetics, EZH2, human, gene mutation, CD79B protein, human, Mature B-cell non-Hodgkin lymphoma, Aged, 80 and over, clinical article, nonhodgkin lymphoma, cancer staging, CD79 antigen, adult, CD79B gene, Genetic Variation, cohort analysis, human tissue, B cell lymphoma, aged, female, Mutation, EZH2 protein, human, CD79b antigen, pathology, carcinogenesis
Abstract

OBJECTIVE: We aimed to determine the hot spot mutational frequencies of Enhancer of Zeste homolog 2 (EZH2) and cluster of differentiation 79B (CD79B) genes in a cohort of mature B-cell non-Hodgkin's lymphomas. PATIENTS AND METHODS: DNA samples from formalin-fixed and paraffin embedded (FFPE) tissues from a total of 37 patients with mature B-cell non-Hodgkin lymphomas were included in the study. Molecular genetic analysis was performed by direct sequencing of the DNA samples. RESULTS: We analyzed formaldehyde fixed-paraffin embedded (FFPE) tumor tissue samples from 17 female and 20 male patients with a median age of 63.7 years at the time of diagnosis. None of the patients had previously reported hot spot mutations in EZH2 and CD79B, but previously unreported single nucleotide variations of CD79B were present in nine patients. rs779833118 was the most frequent variation (7/37 patients, 18.9%). A non-synonymous variation rs757407417, which could have a potentially damaging outcome, was detected in two patients. CONCLUSIONS: None of the patients had well-known hot spot mutations in EZH2 and CD79B. However, we detected novel CD79B variations in mature B-cell non-Hodgkin's lymphoma patients. © 2016, Verduci Editore. All rights reserved.

Published
2016

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