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    Current advances in breast cancer: Implications for developing new treatment strategies through epi-drugs on the road to modifying the epigenome
    (Erciyes Univ Sch Medicine, 2023) Kenanoğlu, Sercan; Yüksel, Emine Berrin; Dündar, Munis
    Breast cancer is one of the most commonly diagnosed neoplasms affecting women worldwide, and it remains a leading cause of both mortality and morbidity. While genetic predisposition plays a critical role in the development of this neoplasm, significant epigenetic dysregulations accompany existing variants. The emergence of acquired drug resistance to current chemotherapeutics poses a significant challenge in managing therapy. However, progress has been made in developing novel agents that directly target epigenetic modifications. These agents, called epi-drugs, can be used alone in the clinic or in combination with current treatment regimens, offering the potential to create diversified effects on the disease's predictive process. Within the scope of this review, general information about the major epigenetic dysregulations in breast cancer will be provided, and their effects on the molecular mechanisms in the carcinogenesis process will be discussed. Furthermore, current treatment approaches for breast cancer will be explored, classifying these epi-drugs, such as DNA methyltransferase inhibitors (DNMTIs), histone deacetylase inhibitors (HDA-CIs), histone acetyltransferases (HATIs), and others that have been developed to target these mechanisms. Predictions regarding the future prospects of these epi-drugs are highlighted, and their contributions to the field of personalized medicine are emphasized based on the results obtained from clinical studies.
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    Imagawa-matsumoto syndrome: the first case from turkey
    (Turkish Neuropsychiatry Assoc-Turk Noropsikiyatri Dernegi, 2024) Yücel, Zeliha; Yüksel, Emine Berrin; Koç, Altuğ
    Imagawa-Matsumoto syndrome (IMMAS; MIM #618786) is an autosomal dominant syndrome characterized by overgrowth, dysmorphic features, musculoskeletal abnormalities, developmental delay, and intellectual disability. The first case was reported in 2017 and has subsequently been diagnosed in only another 12 patients. We also present the first IMMAS patient from Turkey. A 19-year-old female was admitted to the neurology outpatient clinic due to a behavioral disorder and intellectual disability. Her physical examination revealed macrocephaly and dysmorphic features like a round face, broad forehead, hypertelorism, and variable skeletal anomalies such as flat feet, clinodactyly, and macrocephaly. Cranial magnetic resonance imaging (MRI) showed agenesis of the corpus callosum and polymicrogyria. Chromosomal analysis results were consistent with a normal constitutional female karyotype and microarray analysis showed a de novo 1.5-MB size deletion on the long arm of chromosome 17; band q11.2 encompassing the Polycomb Repressive Complex 2 Subunit (SUZ12 gene, MIM *606245). This report will contribute to the limited information in the literature.
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    The Genetics of Parkinson’s Disease
    (2024) Yücel, Zeliha; Şimşek, Levent; Yüksel, Emine Berrin
    Parkinson's disease (PD) is one of the most common neurodegenerative diseases worldwide. Approximately 15% of PD patients have a family history of the disease in one or more first-degree relatives, and 5-10% of PD cases exhibit a classical Mendelian inheritance pattern. In 1997, the heritable transmission of PD was first documented. Recent studies have found 90 independent genome-wide signals at 78 loci that may be associated with PD. The identification of genes linked to PD and their functions has uncovered novel biological pathways and treatment options that play a role in the development of PD. In this article, it is aimed to review up-to-date information on the genetics of PD.
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    The genetics of parkinson’s disease
    (Selcuk University, 29 February 2024) Yücel, Zeliha; Şimşek, Levent; Yüksel, Emine Berrin
    Parkinson’s disease (PD) is one of the most common neurodegenerative diseases worldwide. Approximately 15% of PD patients have a family history of the disease in one or more first-degree relatives, and 5-10% of PD cases exhibit a classical Mendelian inheritance pattern. In 1997, the heritable transmission of PD was first documented. Recent studies have found 90 independent genome-wide signals at 78 loci that may be associated with PD. The identification of genes linked to PD and their functions has uncovered novel biological pathways and treatment options that play a role in the development of PD. In this article, it is aimed to review up-to-date information on the genetics of PD.