Researcher:
Özlü, Can

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Undergraduate Student

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Can

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Özlü

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Özlü, Can

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2015 - 20193

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Researcher Of Publications: search.filters.isAuthorOfPublication.146e2092-0fb0-4b07-84b3-64b7b87532a0

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    A Turkish girl with H syndrome: stunted growth and development of autoimmune insulin dependent diabetes mellitus in the 6th year of diagnosis
    (Walter De Gruyter Gmbh, 2019) N/A; N/A; Özlü, Can; Yeşiltepe Mutlu, Rahime Gül; Hatun, Şükrü; Undergraduate Student; Faculty Member; Faculty Member; School of Medicine; School of Medicine; School of Medicine; N/A; Koç University Hospital; Koç University Hospital; N/A; 153511; 153504
    Background: H syndrome ([0MIM] 602782) is an autosomal recessive disorder with systemic manifestations and characteristic skin lesions, caused by mutations of the SLC29A3 gene. Short stature and diabetes mellitus are the major endocrine problems related to H syndrome, however, clear data from clinical follow-up of H syndrome patients is lacking in the literature. Case presentation: Here, we present follow-up of a Turkish girl diagnosed with H syndrome at the age of 10 with a homozygous 310(c.933T> A, p.C310X) early stop codon mutation on exon 6 of the SLC29A3 gene. She had severe short stature non-responsive to growth hormone (GH) treatment and gluten-free diet despite low GH levels and celiac antibody positivity. She developed insulin dependent diabetes mellitus (IDDM) symptoms 6 years after the initial diagnosis. Conclusions: H syndrome patients can develop IDDM years after characteristic symptoms. Short stature in H syndrome patients may not respond to GH replacement or gluten-free diet alone.
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    PublicationOpen Access
    Generation of integration-free induced pluripotent stem cells from a patient with Familial Mediterranean Fever (FMF)
    (Elsevier, 2015) Gül, Ahmet; Department of Molecular Biology and Genetics; Fidan, Kerem; Kavaklıoğlu, Gülnihal; Ebrahimi, Ayyub A.; Özlü, Can; Ay, Nur Zeynep; Ruacan, Ayşe Arzu; Önder, Tamer Tevfik; Master Student; Faculty Member; Faculty Member; Department of Molecular Biology and Genetics; School of Medicine; Graduate School of Sciences and Engineering; N/A; N/A; N/A; N/A; N/A; 38250; 42946
    Fibroblasts from a Familial Mediterranean Fever (FMF) patient were reprogrammed with episomal vectors by using the Neon Transfection System for the generation of integration-free induced pluripotent stem cells (iPSCs). The resulting iPSC line was characterized to determine the expression of pluripotency markers, proper differentiation into three germ layers, the presence of normal chromosomal structures as well as the lack of genomic integration. A homozygous missense mutation in the MEFV gene (p.Met694Val), which lead to typical FMF phenotype, was shown to be present in the generated iPSC line.
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    PublicationOpen Access
    Apple peel atresia with isolated fetal ascites and digit anomalies
    (Springer, 2019) Özlü, Can; Özen, Mehmet Ali; Gürsoy, Tuğba; Oğuzkurt, Nigar Pelin; Faculty Member; Faculty Member; Koç University Hospital; N/A; N/A; 214691; N/A