• 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 ...
    • Large-scale assessment of polyglutamine repeat expansions in Parkinson disease 

      Wang L., Aasly J.O., Annesi G., Bardien S., Bozi M., Brice A., Carr J., Chung S.J., Clarke C., Crosiers D., Deutschländer A., Eckstein G., Farrer M.J., Goldwurm S., Garraux G., Hadjigeorgiou G.M., Hicks A.A., Hattori N., Klein C., Jeon B., Kim Y.J., Lesage S., Lin J.-J., Lynch T., Lichtner P., Lang A.E., Mok V., Jasinska-Myga B., Mellick G.D., Morrison K.E., Opala G., PihlstrØm L., Pramstaller P.P., Park S.S., Quattrone A., Rogaeva E., Ross O.A., Stefanis L., Stockton J.D., Silburn P.A., Theuns J., Tan E.K., Tomiyama H., Toft M., Van Broeckhoven C., Uitti R.J., Wirdefeldt K., Wszolek Z., Xiromerisiou G., Yueh K.-C., Zhao Y., Gasser T., Maraganore D.M., Krüger R., Sharma M. (2015)
      Objectives: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). Methods: We invited researchers from the Genetic ...
    • PBC Screen: An IgG/IgA dual isotype ELISA detecting multiple mitochondrial and nuclear autoantibodies specific for primary biliary cirrhosis 

      Liu, H.; Norman, G. L.; Shums, Z.; Worman, H. J.; Krawitt, E. L.; Bizzaro, N.; Vergani, D.; Bogdanos, D. P.; Dalekos, G. N.; Milkiewicz, P.; Czaja, A. J.; Heathcote, E. J.; Hirschfield, G. M.; Tan, E. M.; Miyachi, K.; Bignotto, M.; Battezzati, P. M.; Lleo, A.; Leung, P. S.; Podda, M.; Gershwin, M. E.; Invernizzi, P. (2010)
      A dual isotype (IgG, IgA) enzyme-linked immunosorbent assay (ELISA) designed to provide enhanced detection of primary biliary cirrhosis (PBC)-specific autoantibodies against both major mitochondrial and nuclear antigens ...
    • Poly(A)-specific ribonuclease and Nocturnin in squamous cell lung cancer: Prognostic value and impact on gene expression 

      Maragozidis P., Papanastasi E., Scutelnic D., Totomi A., Kokkori I., Zarogiannis S.G., Kerenidi T., Gourgoulianis K.I., Balatsos N.A.A. (2015)
      Background: Lung cancer is the leading cause of cancer mortality worldwide, mainly due to late diagnosis, poor prognosis and tumor heterogeneity. Thus, the need for biomarkers that will aid classification, treatment and ...
    • Proteomic analysis of human angiogenin interactions reveals cytoplasmic PCNA as a putative binding partner 

      Chatzileontiadou D.S.M., Samiotaki M., Alexopoulou A.N., Cotsiki M., Panayotou G., Stamatiadi M., Balatsos N.A.A., Leonidas D.D., Kontou M. (2017)
      Human Angiogenin (hAng) is a member of the ribonuclease A superfamily and a potent inducer of neovascularization. Protein interactions of hAng in the nucleus and cytoplasm of the human umbilical vein cell line EA.hy926 ...
    • 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 ...
    • Sestrin-2 is significantly increased in malignant pleural effusions due to lung cancer and is potentially secreted by pleural mesothelial cells 

      Tsilioni I., Filippidis A.S., Kerenidi T., Budanov A.V., Zarogiannis S.G., Gourgoulianis K.I. (2016)
      Objectives: Sestrin-2 (Sesn2) belongs to a family of highly conserved antioxidant proteins that were discovered as p53-inducible proteins and inhibits cell growth and proliferation. Our aim was to assess the levels of Sesn2 ...