Πλοήγηση ανά Θέμα "mutation"

Low Prevalence of TERT Promoter, BRAF and RAS Mutations in Papillary Thyroid Cancer in the Greek Population

Argyropoulou M., Veskoukis A.S., Karanatsiou P.-M., Manolakelli A., Kostoglou-Athanassiou I., Vilaras G., Karameris A., Liadaki K. (2020)

Thyroid cancer is a common endocrine malignancy and displays a variety of histological patterns ranging from adenoma to malignant tumors. Molecular diagnostics have given significant insights into the genetic basis of ...

Machine learning assisted DSC-MRI radiomics as a tool for glioma classification by grade and mutation status

Sudre C.H., Panovska-Griffiths J., Sanverdi E., Brandner S., Katsaros V.K., Stranjalis G., Pizzini F.B., Ghimenton C., Surlan-Popovic K., Avsenik J., Spampinato M.V., Nigro M., Chatterjee A.R., Attye A., Grand S., Krainik A., Anzalone N., Conte G.M., Romeo V., Ugga L., Elefante A., Ciceri E.F., Guadagno E., Kapsalaki E., Roettger D., Gonzalez J., Boutelier T., Cardoso M.J., Bisdas S. (2020)

Background: Combining MRI techniques with machine learning methodology is rapidly gaining attention as a promising method for staging of brain gliomas. This study assesses the diagnostic value of such a framework applied ...

Mitochondrial tRNA mutations: Clinical and functional perturbations

Zifa, E.; Giannouli, S.; Theotokis, P.; Stamatis, C.; Mamuris, Z.; Stathopoulos, C. (2007)

During the last decade, there has been a progressive accumulation of reports that connect the identification of specific mitochondrial tRNA gene mutations to severe disorders in human. As a result, mitochondrial tRNA genes ...

Molecular Basis of Resistance to First-Line Drugs of Mycobacterium tuberculosis/canettii Strains in Greece

Florou Z., Mavroidi A., Vatidis G., Daniil Z., Gourgoulianis K., Petinaki E. (2021)

The aim of this study was to determine the rate and the mutations of genes involved to the first-line antituberculous drugs' resistance of M. tuberculosis/canettii isolated in Central Greece from 2010 to 2019. During the ...

Molecular characteristics and predictors of mortality among Gram-positive bacteria isolated from bloodstream infections in critically ill patients during a 5-year period (2012–2016)

Papadimitriou-Olivgeris M., Kolonitsiou F., Karamouzos V., Tsilipounidaki K., Nikolopoulou A., Fligou F., Marangos M., Petinaki E., Spiliopoulou I. (2020)

To identify the molecular characteristics of Gram-positive cocci isolated from blood cultures and clinical outcome among critically ill patients. This retrospective study was conducted in the general intensive care unit ...

Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families

Hadjigeorgiou, G. M.; Sadeh, M.; Musumeci, O.; Dabby, R.; De Girolami, L.; Naini, A.; Papadimitriou, A.; Shanske, S.; DiMauro, S. (2002)

Using direct sequencing and restriction fragment length polymorphism analysis, we identified two novel mutations in two unrelated Yemenite-Jewish families with typical symptoms of McArdle's disease. In one family, both ...

Motor and Nonmotor Features of Carriers of the p.A53T Alpha-Synuclein Mutation: A Longitudinal Study

Papadimitriou D., Antonelou R., Miligkos M., Maniati M., Papagiannakis N., Bostantjopoulou S., Leonardos A., Koros C., Simitsi A., Papageorgiou S.G., Kapaki E., Alcalay R.N., Papadimitriou A., Athanassiadou A., Stamelou M., Stefanis L. (2016)

Background: G209A SNCA mutation carriers represent an important group of genetic PD. We describe motor and nonmotor features of G209A SNCA mutation carriers. Methods: Longitudinal clinical assessments over 2 years were ...

Multiple resistance of silky windgrass to acetolactate synthase-and acetyl-CoA synthase-inhibiting herbicides

Papapanagiotou A.P., Damalas C.A., Bosmali I., Madesis P., Menexes G., Eleftherohorinos I. (2022)

Field and pot experiments were conducted in Greece to study the occurrence of resistance in silky windgrass to acetolactate synthase (ALS)-and acetyl-CoA synthase (ACCase)-inhibiting herbicides. Twenty-four populations of ...

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 ...

Netherton Syndrome: A Genotype-Phenotype Review

Sarri C.A., Roussaki-Schulze A., Vasilopoulos Y., Zafiriou E., Patsatsi A., Stamatis C., Gidarokosta P., Sotiriadis D., Sarafidou T., Mamuris Z. (2017)

Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and immune system. The identification of SPINK5, which encodes for the serine protease inhibitor ...

New molecular diagnostic trends and biomarkers for amyotrophic lateral sclerosis

Pampalakis G., Mitropoulos K., Xeromerisiou G., Dardiotis E., Deretzi G., Anagnostouli M., Katsila T., Rentzos M., Patrinos G.P. (2019)

Amyotrophic lateral sclerosis (ALS) is a rare and fatal neurodegenerative disorder. Two forms are recognized, familial (FALS) that accounts for 5–10% of ALS cases, and sporadic (SALS) that accounts for the rest. Early ...

New mutations in gidB gene associated with streptomycin resistance in Mycobacterium tuberculosis in Greece

Florou Z., Gerogianni I., Gourgoulianis K., Petinaki E. (2021)

[No abstract available]

A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency

Vatsiou S., Zamanakou M., Loules G., Psarros F., Parsopoulou F., Csuka D., Valerieva A., Staevska M., Porebski G., Obtulowicz K., Magerl M., Maurer M., Speletas M., Farkas H., Germenis A.E. (2020)

Background: In about 5% of patients with hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) no mutation in the SERPING1 gene is detected. Methods: C1-INH-HAE cases with no mutation in the coding region of ...

A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases

Xiromerisiou G., Dadouli K., Marogianni C., Provatas A., Ntellas P., Rikos D., Stathis P., Georgouli D., Loules G., Zamanakou M., Hadjigeorgiou G.M. (2020)

ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and polyneuropathy. A plethora of worldwide distributed mutations have been described so far. Here, we report two brothers, born to non-consanguineous ...

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 ...

On the pathogenicity of the plasminogen K330E mutation for hereditary angioedema

Germenis A.E., Loules G., Zamanakou M., Psarros F., González-Quevedo T., Speletas M., Bork K., Wulff K., Steinmüller-Magin L., Brænne I., Staubach-Renz P., Witzke G., Hardt J. (2018)

[No abstract available]

Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis

Errichiello E., Dardiotis E., Mannino F., Paloneva J., Mattina T., Zuffardi O. (2019)

Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by progressive presenile dementia and bone cysts, caused by variants in either TYROBP or TREM2. Despite the well-researched role of TREM2 and ...

Phylogenetic relationships between genera Dorcadion, Lamia, Morimus, Herophila and some other Lamiinae (Coleoptera: Cerambycidae) based on chromosome and CO1 gene sequence comparison

Giannoulis T., Dutrillaux A.-M., Sarri C., Mamuris Z., Dutrillaux B. (2020)

A dual molecular and cytogenetic study was performed with the aim to improve the controversial systematic classification of some species of Lamiinae (Coleoptera: Cerambycidae). The karyotypes of species belonging to genera ...

The pivotal role of protein phosphorylation in the control of yeast central metabolism

Vlastaridis P., Papakyriakou A., Chaliotis A., Stratikos E., Oliver S.G., Amoutzias G.D. (2017)

Protein phosphorylation is the most frequent eukaryotic post-translational modification and can act as either a molecular switch or rheostat for protein functions. The deliberate manipulation of protein phosphorylation has ...

Pus1p-dependent tRNA Pseudouridinylation Becomes Essential When tRNA Biogenesis Is Compromised in Yeast

Großhans, H.; Lecointe, F.; Grosjean, H.; Hurt, E.; Simos, G. (2001)

Yeast Pus1p catalyzes the formation of pseudouridine (ψ) at specific sites of several tRNAs, but its function is not essential for cell viability. We show here that Pus1p becomes essential when another tRNA: pseudouridine ...