Search Results - "Capan, Ozlem Yalcin"

A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis by Çubuk, Hasan, Yalçın Çapan, Özlem

“…Mutations in HNF transcription factor genes cause the most common subtypes of maturity-onset of diabetes of youth (MODY), a monogenic form of diabetes…”
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Whole exome sequencing reveals novel candidate gene variants for MODY by Yalçın Çapan, Özlem, Aydın, Neslihan, Yılmaz, Temel, Berber, Ergül

“…•WES analysis was performed for Turkish patients with MODY.•Three pathogenic missense variants were identified in novel candidate genes.•Digenic inheritance…”
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A common VWF exon 28 haplotype in the Turkish population by Berber, Ergul, Pehlevan, Funda, Akin, Mehmet, Capan, Ozlem Yalcin, Kavakli, Kaan, Çaglayan, S Hande

“…An increasing number of mutations and polymorphisms have been identified in the von Willebrand factor (VWF) gene of patients with von Willebrand disease (VWD)…”
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De novo 8p23.1 deletion in a patient with absence epilepsy by Akcakaya, Nihan Hande, Capan, Özlem Yalcin, Schulz, Herbert, Sander, Thomas, Caglayan, Server Hande, Yapıcı, Zuhal

“…The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease…”
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Sıcaklığa Duyarlı PNIPAM Hidrojellerde Çapraz Bağlayıcı ve Başlatıcı Sisteminin Karşılaştırılması by CAKİR HATİR, Pinar, YALCİN CAPAN, Ozlem

“…Thermoresponsive hydrogels are three-dimensional polymer networks which undergo conformational changes in aqueous media depending on the external temperature…”
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SYNTHESIS, CHARACTERIZATION AND BIOCOMPATIBILITY OF PLANT-OIL BASED HYDROGELS by YALÇIN ÇAPAN, Özlem, CAKİR HATİR, Pinar

“…Biocompatible hydrogels are used in a variety of biomedical applications, including tissue scaffolds, drug delivery systems, lab/organ-on-a-chips, biosensors,…”
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SCN1A GENE SEQUENCING IN 46 TURKISH EPILEPSY PATIENTS DISCLOSED 12 NOVEL MUTATIONS by Usluer, Sunay, Salar, Seda, Arslan, Mutluay, Yiş, Uluç, Kara, Bülent, Tektürk, Pınar, Baykan, Betül, Meral, Cihan, Türkdoğan, Dilşad, Bebek, Nerses, Çapan, Özlem Yalçın, Eken, Aslı Gündoğdu, Çağlayan, S. Hande

“…Highlights • SCN1A screening conducted in 46 Turkish patients with DS spectrum phenotypes. • Nineteen mutation was identified, 12 of which were novel. •…”
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Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes by Çapan, Özlem Yalçın, Yapıcı, Zuhal, Özbil, Mehmet, Çağlayan, Hande S.

“…•Nine patients harbor pathological (P) or likely pathological (LP) mutations (31%) and three patients have VUS variants (10%) out of 29 DEE patients.•De novo…”
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Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene by Çapan, Özlem Yalçın, Türkdoğan, Dilşad, Atalay, Sertaç, Çağlayan, Hande S.

“…•Exome data of DEE patient revealed compound heterozygous mutations (p.Asp257Asn and p.Arg262Cys) in the GOT2 gene.•Sanger sequencing showed that p.Asp257Asn…”
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HNF1A-MODY Mutations in Nuclear Localization Signal Impair HNF1A-Import Receptor KPNA6 Interactions by Fareed, Fareed M. A., Korulu, Sirin, Özbil, Mehmet, Çapan, Özlem Yalçın

“…Mutations in hepatocyte nuclear factor (HNF)1A gene cause the most common form of Maturity-onset diabetes of the young (MODY), a monogenic subtype of diabetes…”
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