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Πλοήγηση ανά Θέμα "gene mutation"

Αποτελέσματα 41-60 από 86

    • Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture 

      Chia R., Sabir M.S., Bandres-Ciga S., Saez-Atienzar S., Reynolds R.H., Gustavsson E., Walton R.L., Ahmed S., Viollet C., Ding J., Makarious M.B., Diez-Fairen M., Portley M.K., Shah Z., Abramzon Y., Hernandez D.G., Blauwendraat C., Stone D.J., Eicher J., Parkkinen L., Ansorge O., Clark L., Honig L.S., Marder K., Lemstra A., St George-Hyslop P., Londos E., Morgan K., Lashley T., Warner T.T., Jaunmuktane Z., Galasko D., Santana I., Tienari P.J., Myllykangas L., Oinas M., Cairns N.J., Morris J.C., Halliday G.M., Van Deerlin V.M., Trojanowski J.Q., Grassano M., Calvo A., Mora G., Canosa A., Floris G., Bohannan R.C., Brett F., Gan-Or Z., Geiger J.T., Moore A., May P., Krüger R., Goldstein D.S., Lopez G., Tayebi N., Sidransky E., Sotis A.R., Sukumar G., Alba C., Lott N., Martinez E.M.G., Tuck M., Singh J., Bacikova D., Zhang X., Hupalo D.N., Adeleye A., Wilkerson M.D., Pollard H.B., Norcliffe-Kaufmann L., Palma J.-A., Kaufmann H., Shakkottai V.G., Perkins M., Newell K.L., Gasser T., Schulte C., Landi F., Salvi E., Cusi D., Masliah E., Kim R.C., Caraway C.A., Monuki E.S., Brunetti M., Dawson T.M., Rosenthal L.S., Albert M.S., Pletnikova O., Troncoso J.C., Flanagan M.E., Mao Q., Bigio E.H., Rodríguez-Rodríguez E., Infante J., Lage C., González-Aramburu I., Sanchez-Juan P., Ghetti B., Keith J., Black S.E., Masellis M., Rogaeva E., Duyckaerts C., Brice A., Lesage S., Xiromerisiou G., Barrett M.J., Tilley B.S., Gentleman S., Logroscino G., Serrano G.E., Beach T.G., McKeith I.G., Thomas A.J., Attems J., Morris C.M., Palmer L., Love S., Troakes C., Al-Sarraj S., Hodges A.K., Aarsland D., Klein G., Kaiser S.M., Woltjer R., Pastor P., Bekris L.M., Leverenz J.B., Besser L.M., Kuzma A., Renton A.E., Goate A., Bennett D.A., Scherzer C.R., Morris H.R., Ferrari R., Albani D., Pickering-Brown S., Faber K., Kukull W.A., Morenas-Rodriguez E., Lleó A., Fortea J., Alcolea D., Clarimon J., Nalls M.A., Ferrucci L., Resnick S.M., Tanaka T., Foroud T.M., Graff-Radford N.R., Wszolek Z.K., Ferman T., Boeve B.F., Hardy J.A., Topol E.J., Torkamani A., Singleton A.B., Ryten M., Dickson D.W., Chiò A., Ross O.A., Gibbs J.R., Dalgard C.L., Traynor B.J., Scholz S.W., The American Genome Center (2021)
      The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this ...

    • Hereditary cerebral amyloid angiopathy mimicking CADASIL syndrome 

      Psychogios K., Xiromerisiou G., Kargiotis O., Safouris A., Fiolaki A., Bonakis A., Paraskevas G.P., Giannopoulos S., Tsivgoulis G. (2021)
      Background: Small vessel disease (SVD), and most specifically hereditary forms like CADASIL and cerebral amyloid angiopathy (hCAA), are conditions of increasing clinical importance. We report a rare case of hCAA in a Greek ...

    • Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia 

      Tsantoula, F.; Kioumi, A.; Germenis, A. E.; Speletas, M. (2014)
      A 2-year-old female was presented with high levels of serum ferritin (890 ng/mL) in a routine blood test. Clinical and laboratory investigations excluded the presence of iron overload and secondary causes of hyperferritinemia. ...

    • Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases 

      Marogianni C., Georgouli D., Dadouli K., Ntellas P., Rikos D., Hadjigeorgiou G.M., Spanaki C., Xiromerisiou G. (2021)
      Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with isolated and complex early-onset generalized dystonia. We describe clinico-genetic features on a Greek patient ...

    • Immunoglobulin genes in multiple myeloma: Expressed and non-expressed repertoires, heavy and light chain pairings and somatic mutation patterns in a series of 101 cases 

      Hadzidimitriou, A.; Stamatopoulos, K.; Belessi, C.; Lalayianni, C.; Stavroyianni, N.; Smilevska, T.; Hatzi, K.; Laoutaris, N.; Anagnostopoulos, A.; Kollia, P.; Fassas, A. (2006)
      Background and Objectives. The available data on the immunoglobulin gene (IG) repertoire in multiple myeloma (MM) derive mainly from heavy chains; considerably less is known about light chains. We assessed in parallel IGH ...

    • In vivo base editing by a single i.v. vector injection for treatment of hemoglobinopathies 

      Li C., Georgakopoulou A., Newby G.A., Everette K.A., Nizamis E., Paschoudi K., Vlachaki E., Gil S., Anderson A.K., Koob T., Huang L., Wang H., Kiem H.-P., Liu D.R., Yannaki E., Lieber A. (2022)
      Individuals with β-thalassemia or sickle cell disease and hereditary persistence of fetal hemoglobin (HPFH) possessing 30% fetal hemoglobin (HbF) appear to be symptom free. Here, we used a nonintegrating HDAd5/35++ vector ...

    • International Consensus on the Use of Genetics in the Management of Hereditary Angioedema 

      Germenis A.E., Margaglione M., Pesquero J.B., Farkas H., Cichon S., Csuka D., Lera A.L., Rijavec M., Jolles S., Szilagyi A., Trascasa M.L., Veronez C.L., Drouet C., Zamanakou M., Andrejevic S., Aygören-Pürsün E., Bara N.-A., Bernstein J., Bork K., Bouillet L., Bova M., Boysen H.H., Bygum A., Caballero T., Castaldo A., Christiansen S., Cicardi M., Fabiani J., Katelaris C., Dewald G., Gökmen N.M., Gonzalez-Quevedo M.T., Gooi J., Grivcheva-Panovska V., Grumach A., Hakl R., Hardy G., Jesenak M., Kaplan A., Kirschfink M., Köhalmi K.V., Leibovich I., Longhurst H.J., Lumry W., Magerl M., Saguer I.M., Nagy I.B., Nieto S., Nordenfelt P., Porębski G., Psarros F., Reshef A., Riedl M.A., Sheikh F., Peter S., Speletas M., Staevska M., Stobiecki M., Triggiani M., Veszeli N., Waserman S., Weber C., Wuillemin W., Zuraw B. (2020)
      Hereditary angioedema (HAE) is becoming much more genetically complex than was initially considered. Thus, the role of HAE genetics is expanding beyond research laboratories, and the genotyping of subjects suffering from ...

    • Irradiation induced inversions suppress recombination between the M locus and morphological markers in Aedes aegypti 

      Augustinos A.A., Misbah-ul-Haq M., Carvalho D.O., de la Fuente L.D., Koskinioti P., Bourtzis K. (2020)
      Background: Aedes aegypti is the primary vector of arthropod-borne viruses and one of the most widespread and invasive mosquito species. Due to the lack of efficient specific drugs or vaccination strategies, vector population ...

    • 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 ...

    • microCLIP super learning framework uncovers functional transcriptome-wide miRNA interactions 

      Paraskevopoulou M.D., Karagkouni D., Vlachos I.S., Tastsoglou S., Hatzigeorgiou A.G. (2018)
      Argonaute crosslinking and immunoprecipitation (CLIP) experiments are the most widely used high-throughput methodologies for miRNA targetome characterization. The analysis of Photoactivatable Ribonucleoside-Enhanced (PAR) ...

    • 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 ...

    • Mitogenomic analysis in European brown hare (Lepus europaeus) proposes genetic and functional differentiation between the distinct lineages 

      Giannoulis T., Stamatis C., Tsipourlianos A., Mamuris Z. (2018)
      European brown hare is a small game species spreading across Europe to Asia Minor, with important economic traits. Population genetics studies using mitochondrial DNA markers have revealed the existence of two major ...

    • 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 determinants of radiosensitivity in normal and tumor tissue: A bioinformatic approach 

      Pavlopoulou A., Bagos P.G., Koutsandrea V., Georgakilas A.G. (2017)
      Although radiation therapy is a treatment of choice for cancer, a high percentage of patients develop adverse effects in normal tissue following radiotherapy, mainly, due to genetic factors. Notably, although it is established ...

    • 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 ...

    • Molecular landscape in laryngeal chondrosarcoma 

      Gletsou E., Fotiades P.P., Tsiambas E., Ragos V. (2017)
      [No abstract available]

    • 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 ...

    • Mutated α-synuclein gene in two greek kindreds with familial pd: Incomplete penetrance? 

      Papadimitriou, A.; Veletza, V.; Hadjigeorgiou, G. M.; Patrikiou, A.; Hirano, M.; Anastasopoulos, I. (1999)
      The G209A mutation in the α-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed to ...

    • 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 ...

    • Mutations conferring colistin resistance development in Acinetobacter baumannii clinical isolates 

      Dafopoulou, K.; Poulou, A.; Makris, D.; Hadjichristodoulou, C.; Tsakris, A.; Pournaras, S. (2013)
      The colistin resistance mechanisms in Acinetobacter baumannii are largely unknown. In the present study, we investigated the characteristics and the mechanisms of colistin resistance in two genetically indistinguishable ...