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Πλοήγηση ανά Θέμα "gene mutation"

Αποτελέσματα 1-20 από 86

    • Aberrant methylation of c-myc and c-fos protooncogenes and p53 tumor suppressor gene in myelodysplastic syndromes and acute non-lymphocytic leukemia 

      Papaggeli, P. C.; Kortsaris, A. C.; Matsouka, P. T. (2003)
      Purpose: Aberrant methylation, as an epigenetic phenomenon, may precede and regulate the expression of genes involved in transformation mechanisms that lead to leukemogenesis of hemopoietic cells. The genes involved mostly ...

    • Acro-osteolysis 

      Botou A., Bangeas A., Alexiou I., Sakkas L.I. (2017)
      Acro-osteolysis is an osteolysis of the distal phalanges of the hands and feet and can affect the terminal tuft or the shaft of the distal phalanx (transverse or band acro-osteolysis). It is often associated with distal ...

    • Activation of FADD-Dependent neuronal death pathways as a predictor of pathogenicity for LRRK2 mutations 

      Melachroinou K., Leandrou E., Valkimadi P.-E., Memou A., Hadjigeorgiou G., Stefanis L., Rideout H.J. (2016)
      Background Despite the plethora of sequence variants in LRRK2, only a few clearly segregate with PD. Even within this group of pathogenic mutations, the phenotypic profile can differ widely. Objective We examined multiple ...

    • AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 

      Salpietro V., Dixon C.L., Guo H., Bello O.D., Vandrovcova J., Efthymiou S., Maroofian R., Heimer G., Burglen L., Valence S., Torti E., Hacke M., Rankin J., Tariq H., Colin E., Procaccio V., Striano P., Mankad K., Lieb A., Chen S., Pisani L., Bettencourt C., Männikkö R., Manole A., Brusco A., Grosso E., Ferrero G.B., Armstrong-Moron J., Gueden S., Bar-Yosef O., Tzadok M., Monaghan K.G., Santiago-Sim T., Person R.E., Cho M.T., Willaert R., Yoo Y., Chae J.-H., Quan Y., Wu H., Wang T., Bernier R.A., Xia K., Blesson A., Jain M., Motazacker M.M., Jaeger B., Schneider A.L., Boysen K., Muir A.M., Myers C.T., Gavrilova R.H., Gunderson L., Schultz-Rogers L., Klee E.W., Dyment D., Osmond M., Parellada M., Llorente C., Gonzalez-Peñas J., Carracedo A., Van Haeringen A., Ruivenkamp C., Nava C., Heron D., Nardello R., Iacomino M., Minetti C., Skabar A., Fabretto A., Hanna M.G., Bugiardini E., Hostettler I., O’Callaghan B., Khan A., Cortese A., O’Connor E., Yau W.Y., Bourinaris T., Kaiyrzhanov R., Chelban V., Madej M., Diana M.C., Vari M.S., Pedemonte M., Bruno C., Balagura G., Scala M., Fiorillo C., Nobili L., Malintan N.T., Zanetti M.N., Krishnakumar S.S., Lignani G., Jepson J.E.C., Broda P., Baldassari S., Rossi P., Fruscione F., Madia F., Traverso M., De-Marco P., Pérez-Dueñas B., Munell F., Kriouile Y., El-Khorassani M., Karashova B., Avdjieva D., Kathom H., Tincheva R., Van-Maldergem L., Nachbauer W., Boesch S., Gagliano A., Amadori E., Goraya J.S., Sultan T., Kirmani S., Ibrahim S., Jan F., Mine J., Banu S., Veggiotti P., Zuccotti G.V., Ferrari M.D., Van Den Maagdenberg A.M.J., Verrotti A., Marseglia G.L., Savasta S., Soler M.A., Scuderi C., Borgione E., Chimenz R., Gitto E., Dipasquale V., Sallemi A., Fusco M., Cuppari C., Cutrupi M.C., Ruggieri M., Cama A., Capra V., Mencacci N.E., Boles R., Gupta N., Kabra M., Papacostas S., Zamba-Papanicolaou E., Dardiotis E., Maqbool S., Rana N., Atawneh O., Lim S.Y., Shaikh F., Koutsis G., Breza M., Coviello D.A., Dauvilliers Y.A., AlKhawaja I., AlKhawaja M., Al-Mutairi F., Stojkovic T., Ferrucci V., Zollo M., Alkuraya F.S., Kinali M., Sherifa H., Benrhouma H., Turki I.B.Y., Tazir M., Obeid M., Bakhtadze S., Saadi N.W., Zaki M.S., Triki C.C., Benfenati F., Gustincich S., Kara M., Belcastro V., Specchio N., Capovilla G., Karimiani E.G., Salih A.M., Okubadejo N.U., Ojo O.O., Oshinaike O.O., Oguntunde O., Wahab K., Bello A.H., Abubakar S., Obiabo Y., Nwazor E., Ekenze O., Williams U., Iyagba A., Taiwo L., Komolafe M., Senkevich K., Shashkin C., Zharkynbekova N., Koneyev K., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Rossi S., Silvestri G., Haridy N., Ramenghi L.A., Xiromerisiou G., David E., Aguennouz M., Fidani L., Spanaki C., Tucci A., Raspall-Chaure M., Chez M., Tsai A., Fassi E., Shinawi M., Constantino J.N., De Zorzi R., Fortuna S., Kok F., Keren B., Bonneau D., Choi M., Benzeev B., Zara F., Mefford H.C., Scheffer I.E., Clayton-Smith J., Macaya A., Rothman J.E., Eichler E.E., Kullmann D.M., Houlden H., SYNAPS Study Group (2019)
      AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at ...

    • 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, ...

    • Association of maternal angiotensin II type 1 and type 2 receptor combination genotypes with susceptibility to early-onset preeclampsia 

      Satra M., Samara M., Alatsathianos G., Vamvakopoulou D., Baka A., Tsalazidou-Founta T.-M., Sidiropoulos A., Vamvakopoulos K.-O., Garas A., Daponte A., Vamvakopoulos N., Sotiriou S. (2022)
      Allelic variations affecting the activity of the maternal renin-angiotensin system may play a role in the development of hypertensive disorders of pregnancy like preeclampsia, its more severe early-onset form, and intrauterine ...

    • Bing–Neel syndrome presenting with bilateral lumbar radiculopathy: A case report of a rare clinical entity [Síndrome de Bing-Neel que se presenta con radiculopatía lumbar bilateral: reporte de caso de una entidad clínica rara] 

      Brotis A.G., Palassopoulou M., Kapsalaki E.Z., Paschalis T., Papastergiou V., Fountas K.N. (2022)
      The differential diagnosis of bilateral lower extremity weakness is broad. We present a very rare case of a 48-year old male patient, with walking difficulties due to Bing–Neel syndrome. On clinical examination, there was ...

    • CADASIL in Greece: Mutational spectrum and clinical characteristics based on a systematic review and pooled analysis of published cases 

      Paraskevas G.P., Stefanou M.I., Constantinides V.C., Bakola E., Chondrogianni M., Giannopoulos S., Kararizou E., Boufidou F., Zompola C., Tsantzali I., Theodorou A., Palaiodimou L., Vikelis M., Lachanis S., Papathanasiou M., Bakirtzis C., Koutroulou I., Karapanayiotides T., Xiromerisiou G., Kapaki E., Tsivgoulis G. (2022)
      Background: Differences have been noted in the clinical presentation and mutational spectrum of CADASIL among various geographical areas. The aim of the present study was to investigate the mode of clinical presentation ...

    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases 

      Xiromerisiou G., Marogianni C., Dadouli K., Zompola C., Georgouli D., Provatas A., Theodorou A., Zervas P., Nikolaidou C., Stergiou S., Ntellas P., Sokratous M., Stathis P., Paraskevas G.P., Bonakis A., Voumvourakis K., Hadjichristodoulou C., Hadjigeorgiou G.M., Tsivgoulis G. (2020)
      Objective The aim of this study was to evaluate the correlation between the various NOTCH3 mutations and their clinical and genetic profile, along with the presentation of a novel mutation in a patient.MethodsHere, we ...

    • Characteristics and outcomes of cancer patients who develop pulmonary embolism: A cross-sectional study 

      Chlapoutakis S., Georgakopoulou V.E., Trakas N., Kouvelos G., Papalexis P., Damaskos C., Sklapani P., Grivas A., Gouveris P., Tryfonopoulos D., Tzovaras A., Ardavanis-Loukeris G., Grouzi E., Spandidos D.A., Matsagkas M. (2021)
      Pulmonary embolism (PE), along with deep vein thrombosis, are collectively known as venous thromboembo- lism (VTE). Predisposing factors for PE include post-operative conditions, pregnancy, cancer and an advanced age; of ...

    • Chloramphenicol derivatives as antibacterial and anticancer agents: Historic problems and current solutions 

      Dinos G.P., Athanassopoulos C.M., Missiri D.A., Giannopoulou P.C., Vlachogiannis I.A., Papadopoulos G.E., Papaioannou D., Kalpaxis D.L. (2016)
      Chloramphenicol (CAM) is the D-threo isomer of a small molecule, consisting of a p-nitrobenzene ring connected to a dichloroacetyl tail through a 2-amino-1,3-propanediol moiety. CAM displays a broad-spectrum bacteriostatic ...

    • Clinical immunology quiz - Case 3 

      Kalala, F.; Loules, C.; Mamara, A.; Papadakis, E.; Speletas, M. (2007)

    • Clinical immunology quiz - Case 5 

      Loules, G.; Kalala, F.; Mamara, A.; Tsitsami, E.; Speletas, M. (2008)

    • Clinical immunology quiz-Case 6 

      Speletas, M.; Boukas, K.; Louies, G.; Germenis, A. E. (2009)

    • Clinical phenotype in patients with α-synuclein Parkinson's disease living in Greece in comparison with patients with sporadic Parkinson's disease 

      Papapetropoulos, S.; Paschalis, C.; Athanassiadou, A.; Papadimitriou, A.; Ellul, J.; Polymeropoulos, M. H.; Papapetropoulos, Th (2001)
      Objective - An Ala53Thr mutation of the α-synuclein gene has been recently identified as a rare cause of autosomal Parkinson's disease (PD). The clinical characteristics of 15 patients with PD living in Greece with the ...

    • Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: AN international consensus statement 

      Puschmann, A.; Brighina, L.; Markopoulou, K.; Aasly, J.; Chung, S. J.; Frigerio, R.; Hadjigeorgiou, G.; Kõks, S.; Krüger, R.; Siuda, J.; Wider, C.; Zesiewicz, T. A.; Maraganore, D. M. (2015)
      Parkinson disease (PD) is associated with a clinical course of variable duration, severity, and a combination of motor and non-motor features. Recent PD research has focused primarily on etiology rather than clinical ...

    • 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 ...

    • Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis 

      Tzetis, M.; Kaliakatsos, M.; Fotoulaki, B.; Papatheodorou, A.; Doudounakis, S.; Tsezou, A.; Makrythanasis, P.; Kanavakis, E.; Nousia-arvanitakis, S. (2007)
      Acute recurrent/chronic pancreatitis (CP) is a complex multigenic disease. This is a case-control study consisting of 25 Greek patients with CP and a control population of 236 healthy Greek subjects. The whole coding area ...

    • Current and future aspects of TIM-3 as biomarker or as potential targeted in non-small cell lung cancer scope: Is there a role in clinical practice? 

      de Mello R.A., Zhu J.-H., Iavelberg J., Potim A.H., Simonetti D., Júnior J.A.S., Castelo-Branco P., Pozza D.H., Tajima C.C., Tolia M., Antoniou G. (2020)
      [No abstract available]

    • Deciphering the genetics of primary angioedema with normal levels of C1 inhibitor 

      Loules G., Parsopoulou F., Zamanakou M., Csuka D., Bova M., González-Quevedo T., Psarros F., Porebski G., Speletas M., Firinu D., del Giacco S., Suffritti C., Makris M., Vatsiou S., Zanichelli A., Farkas H., Germenis A.E. (2020)
      The genetic alteration underlying the great majority of primary angioedema with normal C1 inhibitor (nl-C1-INH-HAE) cases remains unknown. To search for variants associated with nl-C1-INH-HAE, we genotyped 133 unrelated ...