Browsing by Subject "amino acid substitution"

Aspects of hereditary angioedema genotyping in the era of NGS: The case of F12 gene [Wybrane aspekty genotypowania wrodzonego obrzȩku naczynioruchowego w erze NGS: Gen F12]

Vatsiou S., Zamanakou M., Loules G., González-Quevedo T., Porȩbski G., Juchacz A., Bova M., Suffritti C., Firinu D., Csuka D., Manousakis E., Valerieva A., Staevska M., Magerl M., Farkas H., Germenis A.E. (2018)

Objective. To screen a cohort of patients diagnosed with non-FXII angioedema for carriage of variants of F12 gene. Material and methods. DNA samples from 191 patients suffering from primary angioedema with normal C1-INH, ...

BAFF receptor polymorphisms and deficiency in humans

Sevdali E., Block Saldana V., Speletas M., Eibel H. (2021)

The BAFF-receptor (BAFFR) is a member of the TNF-receptor family. It is expressed only by B cells and binds BAFF as single ligand, which activates key signaling pathways regulating essential cellular functions, including ...

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 ...

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 ...

Genetic polymorphism of canine cytochrome P450 2D25 gene

Pappas, I. S.; Katsiabas, D. S. (2004)

Human CYP2D6 is involved in the metabolism of a number of drugs including neuroleptics, tricyclic antidepressants, β-adrenoreceptors antagonists and antiarrhythmic drugs. The corresponding canine CYP2D15 have shown similar ...

Genetic variability of the HPV16 early genes and LCR. Present and future perspectives

Bletsa G., Zagouri F., Amoutzias G.D., Nikolaidis M., Zografos E., Markoulatos P., Tsakogiannis D. (2021)

Human papillomavirus 16 (HPV16) infection is the aetiologic factor for the development of cervical dysplasia and is regarded as highly carcinogen, because it is implicated in more than 50% of cervical cancer cases, worldwide. ...

Genetics of Hereditary Angioedema Revisited

Germenis A.E., Speletas M. (2016)

Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing ...

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 ...

Identification of the novel HLA-DRB1*11:192 allele by sequence-based typing in Greece

Sarri C.A., Markantoni M., Hadjichristidoulou C., Mamuris Z. (2016)

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 ...

An NOS3 haplotype is protective against hypertension in a caucasian population

Kitsios, G. D.; Zintzaras, E. (2010)

The endothelial nitric oxide synthase gene (NOS3) has been implicated in the development of hypertension, although the specific role of variants and haplotypes has not been clarified. In this study, the association of three ...

A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature

Dardiotis E., Siokas V., Pantazi E., Dardioti M., Rikos D., Xiromerisiou G., Markou A., Papadimitriou D., Speletas M., Hadjigeorgiou G.M. (2017)

Nasu-hakola disease (NHD) is a rare disease characterized by bone cysts and fractures, frontal lobe syndrome, and progressive presenile dementia. NHD may be the prototype of primary microglial disorders of the CNS or, as ...

Prevalence and mechanisms of resistance to fluoroquinolones in Pseudomonas aeruginosa and Escherichia coli isolates recovered from dogs suffering from otitis in Greece

Vingopoulou E.I., Delis G.A., Batzias G.C., Kaltsogianni F., Koutinas A., Kristo I., Pournaras S., Saridomichelakis M.N., Siarkou V.I. (2018)

The aim of this study was to investigate the prevalence and the implicated mechanisms of resistance against selected veterinary fluoroquinolones (enrofloxacin, marbofloxacin and pradofloxacin) among 101 Pseudomonas aeruginosa ...

Rapid dissemination of colistin and carbapenem resistant Acinetobacter baumannii in Central Greece: Mechanisms of resistance, molecular identification and epidemiological data

Oikonomou O., Sarrou S., Papagiannitsis C.C., Georgiadou S., Mantzarlis K., Zakynthinos E., Dalekos G.N., Petinaki E. (2015)

Background: Colistin-resistant/carbapenem-resistant Acinetobacter baumannii is a significant challenge for antibiotic treatment and infection control policies. Since 2012, in Central Greece an increase of colistin/pan- ...

Serum Neutralization Assay for the Determination of Antibody Levels Against Non-Polio Enterovirus Strains in Central and Western Greece

Fikatas A., Dimitriou T.G., Kyriakopoulou Z., Tsachouridou O., Gartzonika C., Levidiotou-Stefanou S., Amoutzias G.D., Markoulatos P. (2016)

Mutations and recombination events have been identified in enteroviruses. Point mutations accumulate with a frequency of 6.3 × 10-4 per base pair per replication cycle affecting the fitness, the circulation, and the ...

TP53 mutations and protein immunopositivity may predict for poor outcome but also for trastuzumab benefit in patients with early breast cancer treated in the adjuvant setting

Fountzilas G., Giannoulatou E., Alexopoulou Z., Zagouri F., Timotheadou E., Papadopoulou K., Lakis S., Bobos M., Poulios C., Sotiropoulou M., Lyberopoulou A., Gogas H., Pentheroudakis G., Pectasides D., Koutras A., Christodoulou C., Papandreou C., Samantas E., Papakostas P., Kosmidis P., Bafaloukos D., Karanikiotis C., Dimopoulos M.-A., Kotoula V. (2016)

Background: We investigated the impact of PIK3CA and TP53 mutations and p53 protein status on the outcome of patients who had been treated with adjuvant anthracycline-taxane chemotherapy within clinical trials in the pre- ...

TREM2 R47H (rs75932628) variant is unlikely to contribute to Multiple Sclerosis susceptibility and severity in a large Greek MS cohort

Rikos D., Siokas V., Aloizou A.-M., Tsouris Z., Aslanidou P., Koutsis G., Anagnostouli M., Bogdanos D.P., Grigoriadis N., Hadjigeorgiou G.M., Dardiotis E. (2019)

Background: Multiple Sclerosis is a multifactorial autoimmune disease of the central nervous system, characterized by focal inflammation, demyelination and secondary axonal injury. TREM2 is a signaling protein which ...

Type I interferonopathy in a young adult

Manoussakis M.N., Mavragani C.P., Nezos A., Zampeli E., Germenis A., Moutsopoulos H.M. (2017)

[No abstract available]