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Πλοήγηση ανά Θέμα "Point Mutation"

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    • Fabry disease due to D313Y and novel GLA mutations 

      Koulousios K., Stylianou K., Pateinakis P., Zamanakou M., Loules G., Manou E., Kyriklidou P., Katsinas C., Ouzouni A., Kyriazis J., Speletas M., Germenis A.E. (2017)
      Objectives Our aim is to report four novel α-gal A gene (GLA) mutations resulting in Fabry disease (FD) and provide evidence of pathogenicity of the D313Y mutation regarding which contradictory data have been presented in ...

    • Functional characterization of the hGRαT556I causing Chrousos syndrome 

      Nicolaides N.C., Skyrla E., Vlachakis D., Psarra A.-M.G., Moutsatsou P., Sertedaki A., Kossida S., Charmandari E. (2016)
      Background: Chrousos syndrome is a rare pathologic condition characterized by generalized, partial resistance of target tissues to glucocorticoids and caused by inactivating mutations of the human glucocorticoid receptor ...

    • Genetic background of osteonecrosis: Associated with thrombophilic mutations? 

      Zalavras, C. G.; Vartholomatos, G.; Dokou, E.; Malizos, K. N. (2004)
      Intravascular coagulation is considered a major pathogenetic mechanism for nontraumatic osteonecrosis. The aim of our study was to evaluate the association of thrombophilic factor V G1691A mutation (factor V Leiden) and ...

    • The greek variant in app gene: The phenotypic spectrum of app mutations 

      Kalampokini S., Georgouli D., Patrikiou E., Provatas A., Valotassiou V., Georgoulias P., Spanaki C., Hadjigeorgiou G.M., Xiromerisiou G. (2021)
      Mutations in the gene encoding amyloid precursor protein (APP) cause autosomal dominant inherited Alzheimer’s disease (AD). We present a case of a 68-year-old female who presented with epileptic seizures, neuropsychiatric ...

    • Mutation profile of KRAS and BRAF genes in patients with colorectal cancer: Association with morphological and prognostic criteria 

      Samara M., Kapatou K., Ioannou M., Kostopoulou Ε., Papamichali R., Papandreou C., Athanasiadis A., Koukoulis G. (2015)
      KRAS and BRAF mutations are well-recognized molecular alterations during colorectal carcinogenesis, but there is little agreement on their effect on tumor characteristics. Therefore, we aimed to evaluate the distribution ...