Tutto DSpace

Sfoglia per Soggetto "3' untranslated region"

Items 1-8 di 8

    • Development of a novel PTD-mediated IVT-mRNA delivery platform for potential protein replacement therapy of metabolic/genetic disorders 

      Miliotou A.N., Pappas I.S., Spyroulias G., Vlachaki E., Tsiftsoglou A.S., Vizirianakis I.S., Papadopoulou L.C. (2021)
      The potential clinical applications of the powerful in vitro-transcribed (IVT)-mRNAs, to restore defective protein functions, strongly depend on their successful intracellular delivery and transient translation through the ...

    • Functional analysis of miRNAs using the DIANA tools online suite 

      Vlachos I.S., Hatzigeorgiou A.G. (2017)
      microRNAs (miRNAs) are central regulators of gene expression. They are actively studied for their involvement in numerous physiological and pathological conditions but also as diagnostic biomarkers or promising therapeutic ...

    • 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 ...

    • 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) ...

    • 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 ...

    • Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology 

      Bjornsdottir G., Stefansdottir L., Thorleifsson G., Sulem P., Norland K., Ferkingstad E., Oddsson A., Zink F., Lund S.H., Nawaz M.S., Bragi Walters G., Skuladottir A.T., Gudjonsson S.A., Einarsson G., Halldorsson G.H., Bjarnadottir V., Sveinbjornsson G., Helgadottir A., Styrkarsdottir U., Gudmundsson L.J., Pedersen O.B., Hansen T.F., Werge T., Banasik K., Troelsen A., Skou S.T., Thørner L.W., Erikstrup C., Nielsen K.R., Mikkelsen S., Andersen S., Brunak S., Burgdorf K., Hjalgrim H., Jemec G., Jennum P., Johansson P.I., Nielsen K.R., Nyegaard M., Bruun M.T., Pedersen O.B., Dinh K.M., Sørensen E., Ostrowski S., Johansson P.I., Gudbjartsson D., Stefánsson H., Þorsteinsdóttir U., Larsen M.A.H., Didriksen M., Sækmose S., Zeggini E., Hatzikotoulas K., Southam L., Gilly A., Barysenka A., van Meurs J.B.J., Boer C.G., Uitterlinden A.G., Styrkársdóttir U., Stefánsdóttir L., Jonsson H., Ingvarsson T., Esko T., Mägi R., Teder-Laving M., Ikegawa S., Terao C., Takuwa H., Meulenbelt I., Coutinho de Almeida R., Kloppenburg M., Tuerlings M., Slagboom P.E., Nelissen R.R.G.H.H., Valdes A.M., Mangino M., Tsezou A., Zengini E., Alexiadis G., Babis G.C., Cheah K.S.E., Wu T.T., Samartzis D., Cheung J.P.Y., Sham P.C., Kraft P., Kang J.H., Hveem K., Zwart J.-A., Luetge A., Skogholt A.H., Johnsen M.B., Thomas L.F., Winsvold B., Gabrielsen M.E., Lee M.T.M., Zhang Y., Lietman S.A., Shivakumar M., Smith G.D., Tobias J.H., Hartley A., Gaunt T.R., Zheng J., Wilkinson J.M., Steinberg J., Morris A.P., Jonsdottir I., Bjornsson A., Olafsson I.H., Ulfarsson E., Blondal J., Vikingsson A., Brunak S., Ostrowski S.R., Ullum H., Thorsteinsdottir U., Stefansson H., Gudbjartsson D.F., Thorgeirsson T.E., Stefansson K., DBDS Genetic Consortium, GO Consortium (2022)
      Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report a genome-wide association study of back pain using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, ...

    • Risk factor genes in patients with dystonia: A comprehensive review 

      Siokas V., Aloizou A.-M., Tsouris Z., Michalopoulou A., Mentis A.-F.A., Dardiotis E. (2019)
      Background: Dystonia is a movement disorder with high heterogeneity regarding phenotypic appearance and etiology that occurs in both sporadic and familial forms. The etiology of the disease remains unknown. However, there ...

    • Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome 

      Papadopoulou A., Dinopoulos A., Koutsodontis G., Pons R., Vorgia P., Koute V., Vratimos A., Zafeiriou D. (2018)
      Tuberous Sclerosis Complex (TSC) is a rare neurocutaneous syndrome inherited by an autosomal dominant manner. The disorder is commonly manifested by the presence of multiple benign tumors located in numerous tissues, ...