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dc.contributor.authorMingardo, E.
dc.contributor.authorBeaman, G.
dc.contributor.authorGrote, P.
dc.contributor.authorNordenskjöld, A.
dc.contributor.authorNewman, W.
dc.contributor.authorWoolf, A.S.
dc.contributor.authorEckstein, M.
dc.contributor.authorHilger, A.C.
dc.contributor.authorDworschak, G.C.
dc.contributor.authorRösch, W.
dc.contributor.authorEbert, A.-K.
dc.contributor.authorStein, R.
dc.contributor.authorBrusco, A.
dc.contributor.authorDi Grazia, M.
dc.contributor.authorTamer, A.
dc.contributor.authorMartinón Torres, Federico 
dc.contributor.authorHernandez, J.L.
dc.contributor.authorErben, P.
dc.contributor.authorMaj, C.
dc.contributor.authorOlmos, J.M.
dc.contributor.authorRiancho, J.A.
dc.contributor.authorValero, C.
dc.contributor.authorHostettler, I.C.
dc.contributor.authorHoulden, H.
dc.contributor.authorWerring, D.J.
dc.contributor.authorSchumacher, J.
dc.contributor.authorGehlen, J.
dc.contributor.authorGiel, A.-S.
dc.contributor.authorBuerfent, B.C.
dc.contributor.authorArkani, S.
dc.contributor.authorÅkesson, E.
dc.contributor.authorRotstein, E.
dc.contributor.authorLudwig, M.
dc.contributor.authorHolmdahl, G.
dc.contributor.authorGiorgio, E.
dc.contributor.authorBerettini, A.
dc.contributor.authorKeene, D.
dc.contributor.authorCervellione, R.M.
dc.contributor.authorYounsi, N.
dc.contributor.authorOrtlieb, M.
dc.contributor.authorOswald, J.
dc.contributor.authorHaid, B.
dc.contributor.authorPromm, M.
dc.contributor.authorNeissner, C.
dc.contributor.authorHirsch, K.
dc.contributor.authorStehr, M.
dc.contributor.authorSchäfer, F.-M.
dc.contributor.authorSchmiedeke, E.
dc.contributor.authorBoemers, T.M.
dc.contributor.authorvan Rooij, I.A.L.M.
dc.contributor.authorFeitz, W.F.J.
dc.contributor.authorMarcelis, C.L.M.
dc.contributor.authorLacher, M.
dc.contributor.authorNelson, J.
dc.contributor.authorUre, B.
dc.contributor.authorFortmann, C.
dc.contributor.authorGale, D.P.
dc.contributor.authorChan, M.M.Y.
dc.contributor.authorLudwig, K.U.
dc.contributor.authorNöthen, M.M.
dc.contributor.authorHeilmann, S.
dc.contributor.authorZwink, N.
dc.contributor.authorJenetzky, E.
dc.contributor.authorOdermatt, B.
dc.contributor.authorKnapp, M.
dc.contributor.authorReutter, H.
dc.date.accessioned2025-08-26T10:54:39Z
dc.date.available2025-08-26T10:54:39Z
dc.date.issued2022
dc.identifier.citationMingardo E, Beaman G, Grote P, Nordenskjöld A, Newman W, Woolf AS, et al. A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy. Communications Biology. 2022;5(1).
dc.identifier.issn2399-3642
dc.identifier.otherhttps://portalcientifico.sergas.gal/documentos/63950bd437f90f20be7bb11d*
dc.identifier.urihttp://hdl.handle.net/20.500.11940/20737
dc.description.abstractClassic bladder exstrophy represents the most severe end of all human congenital anomalies of the kidney and urinary tract and is associated with bladder cancer susceptibility. Previous genetic studies identified one locus to be involved in classic bladder exstrophy, but were limited to a restrict number of cohort. Here we show the largest classic bladder exstrophy genome-wide association analysis to date where we identify eight genome-wide significant loci, seven of which are novel. In these regions reside ten coding and four non-coding genes. Among the coding genes is EFNA1, strongly expressed in mouse embryonic genital tubercle, urethra, and primitive bladder. Re-sequence of EFNA1 in the investigated classic bladder exstrophy cohort of our study displays an enrichment of rare protein altering variants. We show that all coding genes are expressed and/or significantly regulated in both mouse and human embryonic developmental bladder stages. Furthermore, nine of the coding genes residing in the regions of genome-wide significance are differentially expressed in bladder cancers. Our data suggest genetic drivers for classic bladder exstrophy, as well as a possible role for these drivers to relevant bladder cancer susceptibility.en
dc.description.sponsorshipWe acknowledge the following institutions and organizations for founding and/or contributing to the project: BONFOR; Instituto de Salud Carlos III; Medical Research Council; Horizon 2020 Marie Skodowska-Curie Actions Initial Training Network; RENALTRACT; Alzheimer Research UK; Stroke Foundation/British Heart Foundation. We acknowledge financial support by Deutsche Forschungsgemeinschaft and Friedrich-Alexander-Universitat Erlangen-Nurnberg within the funding programme Open Access Publication Funding.en
dc.language.isoeng
dc.rightsAtribución 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.titleA genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy*
dc.typeArticleen
dc.authorsophosMingardo, H. E.
dc.authorsophosBeaman, G.
dc.authorsophosGrote, P.
dc.authorsophosNordenskjöld, A.
dc.authorsophosNewman, W.
dc.authorsophosWoolf, A. S.
dc.authorsophosEckstein, M.
dc.authorsophosHilger, A. C.
dc.authorsophosDworschak, G. C.
dc.authorsophosRösch, W.
dc.authorsophosEbert, A. K.
dc.authorsophosStein, R.
dc.authorsophosBrusco, A.
dc.authorsophosDi Grazia, M.
dc.authorsophosTamer, A.
dc.authorsophosTorres, F. M.
dc.authorsophosHernandez, J. L.
dc.authorsophosErben, P.
dc.authorsophosMaj, C.
dc.authorsophosOlmos, J. M.
dc.authorsophosRiancho, J. A.
dc.authorsophosValero, C.
dc.authorsophosHostettler, I. C.
dc.authorsophosHoulden, H.
dc.authorsophosWerring, D. J.
dc.authorsophosSchumacher, J.
dc.authorsophosGehlen, J.
dc.authorsophosGiel, A. S.
dc.authorsophosBuerfent, B. C.
dc.authorsophosArkani, S.
dc.authorsophosÅkesson, E.
dc.authorsophosRotstein, E.
dc.authorsophosLudwig, M.
dc.authorsophosHolmdahl, G.
dc.authorsophosGiorgio, E.
dc.authorsophosBerettini, A.
dc.authorsophosKeene, D.
dc.authorsophosCervellione, R. M.
dc.authorsophosYounsi, N.
dc.authorsophosOrtlieb, M.
dc.authorsophosOswald, J.
dc.authorsophosHaid, B.
dc.authorsophosPromm, M.
dc.authorsophosNeissner, C.
dc.authorsophosHirsch, K.
dc.authorsophosStehr, M.
dc.authorsophosSchäfer, F. M.
dc.authorsophosSchmiedeke, E.
dc.authorsophosBoemers, T. M.
dc.authorsophosvan Rooij, I. A. L. M.
dc.authorsophosFeitz, W. F. J.
dc.authorsophosMarcelis, C. L. M.
dc.authorsophosLacher, M.
dc.authorsophosNelson, J.
dc.authorsophosUre, B.
dc.authorsophosFortmann, C.
dc.authorsophosGale, D. P.
dc.authorsophosChan, M. M. Y.
dc.authorsophosLudwig, K. U.
dc.authorsophosNöthen, M. M.
dc.authorsophosHeilmann, S.
dc.authorsophosZwink, N.
dc.authorsophosJenetzky, E.
dc.authorsophosOdermatt, B.
dc.authorsophosKnapp, M.
dc.authorsophosReutter
dc.identifier.doi10.1038/s42003-022-04092-3
dc.identifier.sophos63950bd437f90f20be7bb11d
dc.issue.number1
dc.journal.titleCommunications Biology*
dc.relation.projectIDBONFOR; Instituto de Salud Carlos III; Medical Research Council; Horizon 2020 Marie Skodowska-Curie Actions Initial Training Network; RENALTRACT; Alzheimer Research UK; Stroke Foundation/British Heart Foundation; Deutsche Forschungsgemeinschaft; Friedrich-Alexander-Universitat Erlangen-Nurnberg
dc.relation.publisherversionhttps://www.nature.com/articles/s42003-022-04092-3.pdfes
dc.rights.accessRightsopenAccess
dc.subject.keywordAS Santiagoes
dc.subject.keywordCHUSes
dc.subject.keywordIDISes
dc.typefidesArtículo Científico (incluye Original, Original breve, Revisión Sistemática y Meta-análisis)es
dc.typesophosArtículo Originales
dc.volume.number5


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