Parcourir par sujet "point mutation"

Comparative Analysis of SARS-CoV-2 Variants of Concern, Including Omicron, Highlights Their Common and Distinctive Amino Acid Substitution Patterns, Especially at the Spike ORF

Nikolaidis M., Papakyriakou A., Chlichlia K., Markoulatos P., Oliver S.G., Amoutzias G.D. (2022)

In order to gain a deeper understanding of the recently emerged and highly divergent Omicron variant of concern (VoC), a study of amino acid substitution (AAS) patterns was performed and compared with those of the other ...

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 ...

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 ...

Letter to the Editor: Importation of the First Bovine ST361 New Delhi Metallo-5 Positive Escherichia coli in Greece

Tsilipounidaki K., Athanasakopoulou Z., Billinis C., Miriagou V., Petinaki E. (2022)

[No abstract available]

Molecular diagnosis of inherited disorders: Lessons from hemoglobinopathies

Patrinos, G. P.; Kollia, P.; Papadakis, M. N. (2005)

Hemoglobinopathies constitute a major health problem worldwide, with a high carrier frequency, particularly in certain regions where malaria has been endemic. These disorders are characterized by a vast clinical and ...

Mupirocin resistance in Staphylococcus aureus from Greek hospitals

Maniatis, N.; Agel, A.; Legakis, N. J.; Tzouvelekis, L. S. (2001)

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 ...