Researcher:
Çepni, Ece

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PhD Student

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Ece

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Çepni

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Çepni, Ece

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Search Results

Now showing 1 - 7 of 7
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    Publication
    Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1
    (Elsevier, 2024) Dillen, Lieke; Fatima, Neelam; Hommersom, Marina P.; Fatima, Fareeha; van Beusekom, Ellen; Albert, Silvia; Hagen, Johanna M. van; Vries, Bert B. A. de; Khan, Asma Ali; Brouwer, Arjan P. M. de; van Bokhoven, Hans; Çepni, Ece; Graduate School of Health Sciences
    Intellectual disability (ID) is a diverse neurodevelopmental condition and almost half of the cases have a genetic etiology. SGIP1 acts as an endocytic protein that influences the signaling of receptors in neuronal systems related to energy homeostasis through its interaction with endophilins. This study focuses on the generation and characterization of induced pluripotent stem cells (iPSC) from two unrelated patients due to a frameshift variant (c.764dupA, NM_032291.4) and a splice donor site variant (c.74 + 1G > A, NM_032291.4) in the SGIP1 gene.
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    Publication
    Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9
    (Elsevier, 2024) Fatima, Neelam; Dillen, Lieke; Hommersom, Marina P.; Fatima, Fareeha; van Beusekom, Ellen; Albert, Silvia; Khan, Asma Ali; de Brouwer, Arjan P. M.; van Bokhoven, Hans; Çepni, Ece; Graduate School of Health Sciences
    SGIP1 encodes a protein Src homology 3-domain growth factor receptor-bound 2-like endophilin interacting protein 1. It is involved in the regulation of clathrinmediated endocytosis along with having a role in energy homeostasis in neuronal systems. We generated an isogenic human induced pluripotent stem cell (iPSC) line with a biallelic frameshift variant in SGIP1. . This exon has been shown to be subject to alternative splicing, leading to an isoform lacking 24 amino acids that are present in the longest SGIP isoform. The newly generated iPSC line will be helpful to dissect the differential properties of the two SGIP isoforms.
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    Publication
    Comprehensive genetic testing in a cohort of 67 unrelated retinal dystrophy patients of Turkish and Eastern European descent
    (Springernature, 2024) Arf, Serra; Muslubas, Isil Sayman; Hocaoglu, Mumin; Karacorlu, Murat; Çepni, Ece; Altunoğlu, Umut; Börklü Yücel, Esra; Avcı, Şahin; Hasanreisoğlu, Murat; Kayserili, Hülya; Graduate School of Health Sciences; School of Medicine; Koç University Hospital
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    Publication
    Revisiting TOP2B-related phenotypes: Turkish family with three affecteds in two generations
    (Springernature, 2023) Çepni, Ece; Börklü Yücel, Esra; Avcı, Şahin; Satkın, Nihan Bilge; Kayserili, Hülya; Graduate School of Health Sciences; School of Medicine; Koç University Hospital
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    Publication
    Molecular complexity of spastic ataxias and hereditary spastic paraplegias in Turkey
    (Springernature, 2020) Apaydin, H.; N/A; Şimşir, Gülşah; Tekgül, Şeyma; Ertan, Fatoş Sibel; Çepni, Ece; Master Student; Master Student; Faculty Member; PhD Student; Graduate School of Sciences and Engineering; Graduate School of Sciences and Engineering; School of Medicine; Graduate School of Health Sciences; N/A; 63142; 112829; N/A
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    Publication
    New case of dyskeratosis congenita 4 mimicking hoyeraal-hreidarsson syndrome with novel tert gene mutation
    (Springernature, 2022) N/A; N/A; N/A; Çepni, Ece; Avcı, Şahin; Kayserili, Hülya; PhD Student; Faculty Member; Faculty Member; School of Medicine; School of Medicine; School of Medicine; Koç University Hospital; N/A; N/A; 7945
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    Publication
    Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings
    (Wiley, 2022) Moheb, Lia Abbasi; Rocha, Maria Eugenia; N/A; Kayserili, Hülya; Çepni, Ece; Faculty Member; PhD Student; School of Medicine; Graduate School of Health Sciences; 7945; N/A
    Short telomere syndromes constitute a heterogeneous group of clinical conditions characterized by short telomeres and impaired telomerase activity due to pathogenic variants in the essential telomerase components. Dyskeratosis congenita (DC) is a rare, multisystemic telomere biology disorder characterized by abnormal skin pigmentation, oral leukoplakia and nail dysplasia along with various somatic findings. Hoyeraal-Hreidarsson syndrome (HHS) is generally an autosomal recessively inherited subgroup showing growth retardation, microcephaly, cerebellar hypoplasia and severe immunodeficiency. We here report on a consanguineous family from Turkey, in which a missense variant in the reverse transcriptase domain of the TERT gene segregated with short telomere lengths and was associated with full-blown short telomere syndrome phenotype in the index; and heterogeneous adult-onset manifestations in heterozygous individuals.