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Αποτελέσματα 1-20 από 76

    • The 5′ regulatory region of the human fetal globin genes is a gene conversion hotspot 

      Kalamaras, A.; Chassanidis, C.; Samara, M.; Chiotoglou, I.; Vamvakopoulos, N. K.; Papadakis, M. N.; Kollia, P.; Patrinos, G. P. (2008)
      The human fetal globin genes consist of the first mammalian genomic loci for which gene conversion was reported. To date, 14 gene conversions have been described in the human Gγ- and Aγ-globin genes, the vast majority of ...

    • 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 ...

    • Autoinflammatory syndromes with coexisting variants in Mediterranean FeVer and other genes: Utility of multiple gene screening and the possible impact of gene dosage 

      Karamanakos A., Tektonidou M., Vougiouka O., Gerodimos C., Katsiari C., Pikazis D., Settas L., Tsitsami E., Speletas M., Sfikakis P., Germenis A., Laskari K. (2022)
      Objective: To assess the possible impact conferred by co-existing variants in MEditerranean FeVer (MEFV) and other genes on systemic autoinflammatory disease (SAID) phenotype. Methods: Consecutive patients (n = 42) who ...

    • B Cells and COVID-19: Lessons From Patients With Agammaglobulinemia and the Study of Functional B-Cell Polymorphisms 

      Speletas M., Raftopoulou S., Farmaki E., Gatselis N., Germanidis G., Mouchtouri V.Α., Hatzianastasiou S., Georgiadou S., Tsinti G., Tsachouridou O., Tseroni M., Metallidis S., Dalekos G., Eibel H., Hadjichristodoulou C. (2022)
      [No abstract available]

    • A BAFF Receptor His159Tyr Mutation in Sjögren’s Syndrome-Related Lymphoproliferation 

      Papageorgiou A., Mavragani C.P., Nezos A., Zintzaras E., Quartuccio L., De Vita S., Koutsilieris M., Tzioufas A.G., Moutsopoulos H.M., Voulgarelis M. (2015)
      Objective. To study the prevalence, clinical associations, and functional implications of the His159Tyr mutation of the BAFF receptor (BAFF-R) in patients with Sjögren’s syndrome (SS). Methods. The BAFF-R His159Tyr mutation ...

    • Biology of the steroid hormone receptor superfamily 

      Vamvakopoulos, N. C. (1996)
      Following a brief introduction to the Biology (structure-function) of the steroid hormone receptor superfamily, an updated summary of pathogenic mutations in the steroid, thyroid hormone and vitamin D receptors causing ...

    • Biomarkers in prostate-specific membrane antigen theranostics 

      Vlachostergios P.J., Zachos I., Tzortzis V. (2021)
      Theranostics of prostate cancer (PC) represents a growing area of development of imaging agents and targeted radionuclide therapeutics against a major target, prostate specific membrane antigen (PSMA). In view of the ...

    • 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 ...

    • The current role of surgery in the treatment of cardiac metastases from malignant melanoma: An educational presentation 

      Spiliopoulos K., Engels P., Kimpouri K., Floudas I., Salemis N.S., Schmid F.-X. (2021)
      A 71 year-old male with a history of multiple excisions of an initial Clark’s level V melanoma of the breast followed by combined radiation and interferon treatment, as well as a recurrence, 3 years later, of a BRAF-positive ...

    • Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another? 

      Germenis A.E., Vatsiou S., Csuka D., Zamanakou M., Farkas H. (2021)
      [No abstract available]

    • Detection of mitochondrial transfer RNA (mt-tRNA) gene mutations in patients with idiopathic pulmonary fibrosis and sarcoidosis 

      Daniil Z., Kotsiou O.S., Grammatikopoulos A., Peletidou S., Gkika H., Malli F., Antoniou K., Vasarmidi E., Mamuris Z., Gourgoulianis K., Zifa E. (2018)
      Mitochondrial reactive oxygen species production may lead to tissue injury associated with two respiratory disorders of unknown origin which are shared by common tissue fibrosis, IPF and sarcoidosis. Sequence analysis of ...

    • Diagnostic value of immunohistochemistry for the detection of the BRAF V600E mutation in colorectal carcinoma 

      Ioannou M., Papamichali R., Samara M., Paraskeva E., Papacharalambous C., Baxevanidou K., Koukoulis G. (2016)
      Purpose: V600E is the most common activating BRAF mutation in colorectal carcinomas (CRCs). It is a crucial biomarker for patient selection and response to targeted therapy with BRAF V600E inhibitors. Previous studies using ...

    • Dual IRE1 RNase functions dictate glioblastoma development 

      Lhomond S., Avril T., Dejeans N., Voutetakis K., Doultsinos D., McMahon M., Pineau R., Obacz J., Papadodima O., Jouan F., Bourien H., Logotheti M., Jégou G., Pallares-Lupon N., Schmit K., Le Reste P.-J., Etcheverry A., Mosser J., Barroso K., Vauléon E., Maurel M., Samali A., Patterson J.B., Pluquet O., Hetz C., Quillien V., Chatziioannou A., Chevet E. (2018)
      Proteostasis imbalance is emerging as a major hallmark of cancer, driving tumor aggressiveness. Evidence suggests that the endoplasmic reticulum (ER), a major site for protein folding and quality control, plays a critical ...

    • Editorial for special issue “genetic basis and epidemiology of myopathies” 

      Peristeri E., Dardiotis E. (2021)
      We are pleased to announce a Special Issue on the Genetic Basis and Epidemiology of Myopathies. This Special Issue is collecting papers pertaining to various lines of research focusing on the genetic basis and the epidemiology ...

    • Effects of TP53 and PIK3CA mutations in early breast cancer: a matter of co-mutation and tumor-infiltrating lymphocytes 

      Kotoula V., Karavasilis V., Zagouri F., Kouvatseas G., Giannoulatou E., Gogas H., Lakis S., Pentheroudakis G., Bobos M., Papadopoulou K., Tsolaki E., Pectasides D., Lazaridis G., Koutras A., Aravantinos G., Christodoulou C., Papakostas P., Markopoulos C., Zografos G., Papandreou C., Fountzilas G. (2016)
      The purpose of this study is to investigate whether the outcome of breast cancer (BC) patients treated with adjuvant chemotherapy is affected by co-mutated TP53 and PIK3CA according to stromal tumor-infiltrating lymphocytes ...

    • ERK1/2 phosphorylates HIF-2α and regulates its activity by controlling its CRM1-dependent nuclear shuttling 

      Gkotinakou I.-M., Befani C., Simos G., Liakos P. (2019)
      Hypoxia-inducible factor 2 (HIF-2) is a principal component of the cellular response to oxygen deprivation (hypoxia). Its inducible subunit, HIF-2α (also known as EPAS1), is controlled by oxygen-dependent as well as ...

    • Evidence for disulfide bonds in SR Protein Kinase 1 (SRPK1) that are required for activity and nuclear localization 

      Koutroumani M., Papadopoulos G.E., Vlassi M., Nikolakaki E., Giannakouros T. (2017)
      Serine/arginine protein kinases (SRPKs) phosphorylate Arg/Ser dipeptide-containing proteins that play crucial roles in a broad spectrum of basic cellular processes. The existence of a large internal spacer sequence that ...

    • Evidence That HFE H63D Variant Is a Potential Disease Modifier in Cluster Headache 

      Papasavva M., Vikelis M., Katsarou M.-S., Siokas V., Dermitzakis E., Papademetriou C., Karakostis K., Lazopoulos G., Dardiotis E., Drakoulis N. (2022)
      Cluster headache (CH) is a primary headache disorder with a complex genetic background. Several studies indicate a potential link between iron homeostasis and the pathophysiology of primary headaches. The HFE gene encodes ...