Yazar "Çapan Yalçın, Özlem" için listeleme
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HNF1A-MODY Mutations in Nuclear Localization Signal Impair HNF1A-Import Receptor KPNA6 Interactions
Fareed, Fareed M. A.; Korulu, Şirin; Özbil, Mehmet; Çapan Yalçın, Özlem (Springer, 2021)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 mellitus. Functional characterization of mutant proteins reveals ... -
De novo 8p23.1 deletion in a patient with absence epilepsy
Akçakaya, Nihan Hande; Çapan Yalçın, Özlem; Schulz, Herbert; Sander, Thomas; Çağlayan, Server Hande; Yapıcı, Zuhal (John Libbey Eurotext, 2017)The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, ... -
Whole exome sequencing reveals novel candidate gene variants for MODY
Çapan Yalçın, Özlem; Aydın, Neslihan; Yılmaz, Temel; Berber, Ergül (Elsevier, 2020)Maturity-onset diabetes of the young (MODY) is a monogenic subtype of diabetes mellitus. Although 14 genes were associated to different subtypes of MODY, 30-40% of MODY patients have unidentified genetic mutations. In this ...
