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Πλοήγηση ανά Θέμα "human genome"

Αποτελέσματα 1-7 από 7

    • Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report 

      Orru S., Papoulidis I., Siomou E., Papadimitriou D.T., Sotiriou S., Nikolaidis P., Eleftheriades M., Papanikolaou E., Thomaidis L., Manolakos E. (2019)
      In this report, a patient carrying a 650 kb deletion and a 759 kb duplication of chromosomal 21q22.3 region was described. Facial dysmorphic features, hypotonia, short stature, learning impairment, autism spectrum disorder, ...

    • Cadherin and Wnt signaling pathways as key regulators in diabetic nephropathy 

      Tziastoudi M., Tsezou A., Stefanidis I. (2021)
      Aim A recent meta-analysis of genome-wide linkage studies (GWLS) has identified multiple genetic regions suggestive of linkage with DN harboring hundreds of genes. Moving this number of genetic loci forward into biological ...

    • 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 ...

    • Identification of Chromosomal Regions Linked to Diabetic Nephropathy: A Meta-Analysis of Genome-Wide Linkage Scans 

      Tziastoudi M., Stefanidis I., Stravodimos K., Zintzaras E. (2019)
      Aims: Diabetic nephropathy (DN) has become a serious public health problem. Genetic factors are involved in the pathogenesis of DN, but the exact mode of inheritance is still unknown. Genome-wide linkage scans (GWLS) have ...

    • Origins and genetic legacy of prehistoric dogs 

      Bergström A., Frantz L., Schmidt R., Ersmark E., Lebrasseur O., Girdland-Flink L., Lin A.T., Storå J., Sjögren K.-G., Anthony D., Antipina E., Amiri S., Bar-Oz G., Bazaliiskii V.I., Bulatović J., Brown D., Carmagnini A., Davy T., Fedorov S., Fiore I., Fulton D., Germonpré M., Haile J., Irving-Pease E.K., Jamieson A., Janssens L., Kirillova I., Horwitz L.K., Kuzmanović-Cvetković J., Kuzmin Y., Losey R.J., Dizdar D.L., Mashkour M., Novak M., Onar V., Orton D., Pasarić M., Radivojević M., Rajković D., Roberts B., Ryan H., Sablin M., Shidlovskiy F., Stojanović I., Tagliacozzo A., Trantalidou K., Ullén I., Villaluenga A., Wapnish P., Dobney K., Götherström A., Linderholm A., Dalén L., Pinhasi R., Larson G., Skoglund P. (2020)
      Dogs were the first domestic animal, but little is known about their population history and to what extent it was linked to humans. We sequenced 27 ancient dog genomes and found that all dogs share a common ancestry distinct ...

    • Prediction and enrichment analyses of the Homo sapiens-Drosophila melanogaster COPD-related orthologs: potential for modeling of human COPD genomic responses with the fruit fly 

      Rouka E., Gourgoulianni N., Lupold S., Hatzoglou C., Gourgoulianis K.I., Zarogiannis S.G. (2022)
      The significant similarities in airway epithelial cells between mammals and the fruit fly Drosophila melanogaster have rendered the latter an important model organism for studies of chronic inflammatory lung diseases. ...

    • Unraveling the mechanisms of extreme radioresistance in prokaryotes: Lessons from nature 

      Pavlopoulou A., Savva G.D., Louka M., Bagos P.G., Vorgias C.E., Michalopoulos I., Georgakilas A.G. (2016)
      The last 50 years, a variety of archaea and bacteria able to withstand extremely high doses of ionizing radiation, have been discovered. Several lines of evidence suggest a variety of mechanisms explaining the extreme ...