A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

Classic 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 n...

Full description

Saved in:
Bibliographic Details
Main Authors: Mingardo, Enrico (Author) , Beaman, Glenda (Author) , Grote, Philip (Author) , Nordenskjöld, Agneta (Author) , Newman, William (Author) , Woolf, Adrian S. (Author) , Eckstein, Markus (Author) , Hilger, Alina C. (Author) , Dworschak, Gabriel C. (Author) , Rösch, Wolfgang (Author) , Ebert, Anne-Karolin (Author) , Stein, Raimund (Author) , Brusco, Alfredo (Author) , Di Grazia, Massimo (Author) , Tamer, Ali (Author) , Torres, Federico M. (Author) , Hernandez, Jose L. (Author) , Erben, Philipp (Author) , Maj, Carlo (Author) , Olmos, Jose M. (Author) , Riancho, Jose A. (Author) , Valero, Carmen (Author) , Hostettler, Isabel C. (Author) , Houlden, Henry (Author) , Werring, David J. (Author) , Schumacher, Johannes (Author) , Gehlen, Jan (Author) , Giel, Ann-Sophie (Author) , Buerfent, Benedikt C. (Author) , Arkani, Samara (Author) , Åkesson, Elisabeth (Author) , Rotstein, Emilia (Author) , Ludwig, Michael (Author) , Holmdahl, Gundela (Author) , Giorgio, Elisa (Author) , Berettini, Alfredo (Author) , Keene, David (Author) , Cervellione, Raimondo M. (Author) , Younsi, Nina (Author) , Ortlieb, Melissa (Author) , Oswald, Josef (Author) , Haid, Bernhard (Author) , Promm, Martin (Author) , Neissner, Claudia (Author) , Hirsch, Karin (Author) , Stehr, Maximilian (Author) , Schäfer, Frank-Mattias (Author) , Schmiedeke, Eberhard (Author) , Boemers, Thomas M. (Author) , van Rooij, Iris A. L. M. (Author) , Feitz, Wouter F. J. (Author) , Marcelis, Carlo L. M. (Author) , Lacher, Martin (Author) , Nelson, Jana (Author) , Ure, Benno (Author) , Fortmann, Caroline (Author) , Gale, Daniel P. (Author) , Chan, Melanie M. Y. (Author) , Ludwig, Kerstin U. (Author) , Nöthen, Markus Maria (Author) , Heilmann, Stefanie (Author) , Zwink, Nadine (Author) , Jenetzky, Ekkehart (Author) , Odermatt, Benjamin (Author) , Knapp, Michael (Author) , Reutter, Heiko (Author)
Format: Article (Journal)
Language:English
Published: 09 November 2022
In: Communications biology
Year: 2022, Volume: 5, Pages: 1-11
ISSN:2399-3642
DOI:10.1038/s42003-022-04092-3
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1038/s42003-022-04092-3
Verlag, kostenfrei, Volltext: http://www.nature.com/articles/s42003-022-04092-3
Get full text
Author Notes:Enrico Mingardo, Glenda Beaman, Philip Grote, Agneta Nordenskjöld, William Newman, Adrian S. Woolf, Markus Eckstein, Alina C. Hilger, Gabriel C. Dworschak, Wolfgang Rösch, Anne-Karolin Ebert, Raimund Stein, Alfredo Brusco, Massimo Di Grazia, Ali Tamer, Federico M. Torres, Jose L. Hernandez, Philipp Erben, Carlo Maj, Jose M. Olmos, Jose A. Riancho, Carmen Valero, Isabel C. Hostettler, Henry Houlden, David J. Werring, Johannes Schumacher, Jan Gehlen, Ann-Sophie Giel, Benedikt C. Buerfent, Samara Arkani, Elisabeth Åkesson, Emilia Rotstein, Michael Ludwig, Gundela Holmdahl, Elisa Giorgio, Alfredo Berettini, David Keene, Raimondo M. Cervellione, Nina Younsi, Melissa Ortlieb, Josef Oswald, Bernhard Haid, Martin Promm, Claudia Neissner, Karin Hirsch, Maximilian Stehr, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Iris A.L.M. van Rooij, Wouter F.J. Feitz, Carlo L.M. Marcelis, Martin Lacher, Jana Nelson, Benno Ure, Caroline Fortmann, Daniel P. Gale, Melanie M.Y. Chan, Kerstin U. Ludwig, Markus M. Nöthen, Stefanie Heilmann, Nadine Zwink, Ekkehart Jenetzky, Benjamin Odermatt, Michael Knapp and Heiko Reutter

MARC

LEADER 00000caa a2200000 c 4500
001 1852866802
003 DE-627
005 20251023213131.0
007 cr uuu---uuuuu
008 230718s2022 xx |||||o 00| ||eng c
024 7 |a 10.1038/s42003-022-04092-3  |2 doi 
035 |a (DE-627)1852866802 
035 |a (DE-599)KXP1852866802 
035 |a (OCoLC)1425217285 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Mingardo, Enrico  |e VerfasserIn  |0 (DE-588)129646444X  |0 (DE-627)1852867930  |4 aut 
245 1 2 |a A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy  |c Enrico Mingardo, Glenda Beaman, Philip Grote, Agneta Nordenskjöld, William Newman, Adrian S. Woolf, Markus Eckstein, Alina C. Hilger, Gabriel C. Dworschak, Wolfgang Rösch, Anne-Karolin Ebert, Raimund Stein, Alfredo Brusco, Massimo Di Grazia, Ali Tamer, Federico M. Torres, Jose L. Hernandez, Philipp Erben, Carlo Maj, Jose M. Olmos, Jose A. Riancho, Carmen Valero, Isabel C. Hostettler, Henry Houlden, David J. Werring, Johannes Schumacher, Jan Gehlen, Ann-Sophie Giel, Benedikt C. Buerfent, Samara Arkani, Elisabeth Åkesson, Emilia Rotstein, Michael Ludwig, Gundela Holmdahl, Elisa Giorgio, Alfredo Berettini, David Keene, Raimondo M. Cervellione, Nina Younsi, Melissa Ortlieb, Josef Oswald, Bernhard Haid, Martin Promm, Claudia Neissner, Karin Hirsch, Maximilian Stehr, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Iris A.L.M. van Rooij, Wouter F.J. Feitz, Carlo L.M. Marcelis, Martin Lacher, Jana Nelson, Benno Ure, Caroline Fortmann, Daniel P. Gale, Melanie M.Y. Chan, Kerstin U. Ludwig, Markus M. Nöthen, Stefanie Heilmann, Nadine Zwink, Ekkehart Jenetzky, Benjamin Odermatt, Michael Knapp and Heiko Reutter 
264 1 |c 09 November 2022 
300 |a 11 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a Gesehen am 18.07.2023 
520 |a Classic 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. 
650 4 |a Gene expression 
650 4 |a Genome-wide association studies 
700 1 |a Beaman, Glenda  |e VerfasserIn  |4 aut 
700 1 |a Grote, Philip  |e VerfasserIn  |4 aut 
700 1 |a Nordenskjöld, Agneta  |e VerfasserIn  |4 aut 
700 1 |a Newman, William  |e VerfasserIn  |4 aut 
700 1 |a Woolf, Adrian S.  |e VerfasserIn  |4 aut 
700 1 |8 1\p  |a Eckstein, Markus  |d 1990-  |e VerfasserIn  |0 (DE-588)1113210656  |0 (DE-627)867126388  |0 (DE-576)476917069  |4 aut 
700 1 |a Hilger, Alina C.  |e VerfasserIn  |4 aut 
700 1 |a Dworschak, Gabriel C.  |e VerfasserIn  |4 aut 
700 1 |a Rösch, Wolfgang  |e VerfasserIn  |4 aut 
700 1 |a Ebert, Anne-Karolin  |e VerfasserIn  |4 aut 
700 1 |a Stein, Raimund  |d 1963-  |e VerfasserIn  |0 (DE-588)1016769091  |0 (DE-627)671837656  |0 (DE-576)352637323  |4 aut 
700 1 |a Brusco, Alfredo  |e VerfasserIn  |4 aut 
700 1 |a Di Grazia, Massimo  |e VerfasserIn  |4 aut 
700 1 |a Tamer, Ali  |e VerfasserIn  |4 aut 
700 1 |a Torres, Federico M.  |e VerfasserIn  |4 aut 
700 1 |a Hernandez, Jose L.  |e VerfasserIn  |4 aut 
700 1 |a Erben, Philipp  |d 1973-  |e VerfasserIn  |0 (DE-588)128501014  |0 (DE-627)373920997  |0 (DE-576)297181661  |4 aut 
700 1 |a Maj, Carlo  |e VerfasserIn  |4 aut 
700 1 |a Olmos, Jose M.  |e VerfasserIn  |4 aut 
700 1 |a Riancho, Jose A.  |e VerfasserIn  |4 aut 
700 1 |a Valero, Carmen  |e VerfasserIn  |4 aut 
700 1 |a Hostettler, Isabel C.  |e VerfasserIn  |4 aut 
700 1 |8 2\p  |a Houlden, Henry  |e VerfasserIn  |0 (DE-588)1261085213  |0 (DE-627)191759108X  |4 aut 
700 1 |8 3\p  |a Werring, David J.  |d 1967-  |e VerfasserIn  |0 (DE-588)1012493571  |0 (DE-627)704871041  |0 (DE-576)345480473  |4 aut 
700 1 |a Schumacher, Johannes  |e VerfasserIn  |4 aut 
700 1 |a Gehlen, Jan  |e VerfasserIn  |4 aut 
700 1 |a Giel, Ann-Sophie  |e VerfasserIn  |4 aut 
700 1 |a Buerfent, Benedikt C.  |e VerfasserIn  |4 aut 
700 1 |a Arkani, Samara  |e VerfasserIn  |4 aut 
700 1 |a Åkesson, Elisabeth  |e VerfasserIn  |4 aut 
700 1 |a Rotstein, Emilia  |e VerfasserIn  |4 aut 
700 1 |a Ludwig, Michael  |e VerfasserIn  |4 aut 
700 1 |a Holmdahl, Gundela  |e VerfasserIn  |4 aut 
700 1 |a Giorgio, Elisa  |e VerfasserIn  |4 aut 
700 1 |a Berettini, Alfredo  |e VerfasserIn  |4 aut 
700 1 |a Keene, David  |e VerfasserIn  |4 aut 
700 1 |a Cervellione, Raimondo M.  |e VerfasserIn  |4 aut 
700 1 |a Younsi, Nina  |d 1985-  |e VerfasserIn  |0 (DE-588)1062805585  |0 (DE-627)806967110  |0 (DE-576)420231021  |4 aut 
700 1 |a Ortlieb, Melissa  |e VerfasserIn  |4 aut 
700 1 |a Oswald, Josef  |e VerfasserIn  |4 aut 
700 1 |a Haid, Bernhard  |e VerfasserIn  |4 aut 
700 1 |a Promm, Martin  |e VerfasserIn  |4 aut 
700 1 |a Neissner, Claudia  |e VerfasserIn  |4 aut 
700 1 |a Hirsch, Karin  |e VerfasserIn  |4 aut 
700 1 |a Stehr, Maximilian  |e VerfasserIn  |4 aut 
700 1 |a Schäfer, Frank-Mattias  |e VerfasserIn  |4 aut 
700 1 |a Schmiedeke, Eberhard  |e VerfasserIn  |4 aut 
700 1 |a Boemers, Thomas M.  |e VerfasserIn  |4 aut 
700 1 |a van Rooij, Iris A. L. M.  |e VerfasserIn  |4 aut 
700 1 |a Feitz, Wouter F. J.  |e VerfasserIn  |4 aut 
700 1 |a Marcelis, Carlo L. M.  |e VerfasserIn  |4 aut 
700 1 |a Lacher, Martin  |e VerfasserIn  |4 aut 
700 1 |a Nelson, Jana  |e VerfasserIn  |4 aut 
700 1 |a Ure, Benno  |e VerfasserIn  |4 aut 
700 1 |a Fortmann, Caroline  |e VerfasserIn  |4 aut 
700 1 |a Gale, Daniel P.  |e VerfasserIn  |4 aut 
700 1 |a Chan, Melanie M. Y.  |e VerfasserIn  |4 aut 
700 1 |a Ludwig, Kerstin U.  |e VerfasserIn  |4 aut 
700 1 |8 4\p  |a Nöthen, Markus Maria  |e VerfasserIn  |0 (DE-588)1069221139  |0 (DE-627)821594591  |0 (DE-576)428541534  |4 aut 
700 1 |8 5\p  |a Heilmann, Stefanie  |e VerfasserIn  |0 (DE-588)1046356801  |0 (DE-627)776141872  |0 (DE-576)399678883  |4 aut 
700 1 |a Zwink, Nadine  |e VerfasserIn  |4 aut 
700 1 |8 6\p  |a Jenetzky, Ekkehart  |d 1972-  |e VerfasserIn  |0 (DE-588)129730637  |0 (DE-627)569704634  |0 (DE-576)297808249  |4 aut 
700 1 |a Odermatt, Benjamin  |e VerfasserIn  |4 aut 
700 1 |a Knapp, Michael  |e VerfasserIn  |4 aut 
700 1 |a Reutter, Heiko  |d 1972-  |e VerfasserIn  |0 (DE-588)122455991  |0 (DE-627)705915476  |0 (DE-576)293279330  |4 aut 
773 0 8 |i Enthalten in  |t Communications biology  |d London : Springer Nature, 2018  |g 5(2022) vom: Nov., Artikel-ID 1203, Seite 1-11  |h Online-Ressource  |w (DE-627)101369080X  |w (DE-600)2919698-X  |w (DE-576)499739132  |x 2399-3642  |7 nnas  |a A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy 
773 1 8 |g volume:5  |g year:2022  |g month:11  |g elocationid:1203  |g pages:1-11  |g extent:11  |a A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy 
856 4 0 |u https://doi.org/10.1038/s42003-022-04092-3  |x Verlag  |x Resolving-System  |z kostenfrei  |3 Volltext 
856 4 0 |u http://www.nature.com/articles/s42003-022-04092-3  |x Verlag  |z kostenfrei  |3 Volltext 
883 |8 1\p  |a cgwrk  |d 20241001  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
883 |8 2\p  |a cgwrk  |d 20250301  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
883 |8 3\p  |a cgwrk  |d 20251001  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
883 |8 4\p  |a cgwrk  |d 20241001  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
883 |8 5\p  |a cgwrk  |d 20241001  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
883 |8 6\p  |a cgwrk  |d 20241001  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
951 |a AR 
992 |a 20230718 
993 |a Article 
994 |a 2022 
998 |g 1062805585  |a Younsi, Nina  |m 1062805585:Younsi, Nina  |d 60000  |d 63100  |e 60000PY1062805585  |e 63100PY1062805585  |k 0/60000/  |k 1/60000/63100/  |p 39 
998 |g 128501014  |a Erben, Philipp  |m 128501014:Erben, Philipp  |d 60000  |d 63100  |e 60000PE128501014  |e 63100PE128501014  |k 0/60000/  |k 1/60000/63100/  |p 18 
998 |g 1016769091  |a Stein, Raimund  |m 1016769091:Stein, Raimund  |d 60000  |d 63100  |e 60000PS1016769091  |e 63100PS1016769091  |k 0/60000/  |k 1/60000/63100/  |p 12 
999 |a KXP-PPN1852866802  |e 4354786222 
BIB |a Y 
SER |a journal 
JSO |a {"type":{"media":"Online-Ressource","bibl":"article-journal"},"person":[{"display":"Mingardo, Enrico","given":"Enrico","role":"aut","family":"Mingardo","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","family":"Beaman","role":"aut","given":"Glenda","display":"Beaman, Glenda"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Grote","display":"Grote, Philip","given":"Philip"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Nordenskjöld","display":"Nordenskjöld, Agneta","given":"Agneta"},{"display":"Newman, William","given":"William","role":"aut","roleDisplay":"VerfasserIn","family":"Newman"},{"display":"Woolf, Adrian S.","given":"Adrian S.","role":"aut","roleDisplay":"VerfasserIn","family":"Woolf"},{"display":"Eckstein, Markus","given":"Markus","role":"aut","roleDisplay":"VerfasserIn","family":"Eckstein"},{"role":"aut","family":"Hilger","roleDisplay":"VerfasserIn","display":"Hilger, Alina C.","given":"Alina C."},{"given":"Gabriel C.","display":"Dworschak, Gabriel C.","roleDisplay":"VerfasserIn","family":"Dworschak","role":"aut"},{"display":"Rösch, Wolfgang","given":"Wolfgang","role":"aut","roleDisplay":"VerfasserIn","family":"Rösch"},{"display":"Ebert, Anne-Karolin","given":"Anne-Karolin","role":"aut","family":"Ebert","roleDisplay":"VerfasserIn"},{"family":"Stein","roleDisplay":"VerfasserIn","role":"aut","given":"Raimund","display":"Stein, Raimund"},{"display":"Brusco, Alfredo","given":"Alfredo","role":"aut","family":"Brusco","roleDisplay":"VerfasserIn"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Di Grazia","display":"Di Grazia, Massimo","given":"Massimo"},{"family":"Tamer","roleDisplay":"VerfasserIn","role":"aut","given":"Ali","display":"Tamer, Ali"},{"display":"Torres, Federico M.","given":"Federico M.","role":"aut","roleDisplay":"VerfasserIn","family":"Torres"},{"display":"Hernandez, Jose L.","given":"Jose L.","role":"aut","family":"Hernandez","roleDisplay":"VerfasserIn"},{"given":"Philipp","display":"Erben, Philipp","roleDisplay":"VerfasserIn","family":"Erben","role":"aut"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Maj","display":"Maj, Carlo","given":"Carlo"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Olmos","display":"Olmos, Jose M.","given":"Jose M."},{"family":"Riancho","roleDisplay":"VerfasserIn","role":"aut","given":"Jose A.","display":"Riancho, Jose A."},{"given":"Carmen","display":"Valero, Carmen","family":"Valero","roleDisplay":"VerfasserIn","role":"aut"},{"given":"Isabel C.","display":"Hostettler, Isabel C.","family":"Hostettler","roleDisplay":"VerfasserIn","role":"aut"},{"display":"Houlden, Henry","given":"Henry","role":"aut","roleDisplay":"VerfasserIn","family":"Houlden"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Werring","display":"Werring, David J.","given":"David J."},{"roleDisplay":"VerfasserIn","family":"Schumacher","role":"aut","given":"Johannes","display":"Schumacher, Johannes"},{"roleDisplay":"VerfasserIn","family":"Gehlen","role":"aut","given":"Jan","display":"Gehlen, Jan"},{"roleDisplay":"VerfasserIn","family":"Giel","role":"aut","given":"Ann-Sophie","display":"Giel, Ann-Sophie"},{"given":"Benedikt C.","display":"Buerfent, Benedikt C.","roleDisplay":"VerfasserIn","family":"Buerfent","role":"aut"},{"role":"aut","family":"Arkani","roleDisplay":"VerfasserIn","display":"Arkani, Samara","given":"Samara"},{"display":"Åkesson, Elisabeth","given":"Elisabeth","role":"aut","roleDisplay":"VerfasserIn","family":"Åkesson"},{"given":"Emilia","display":"Rotstein, Emilia","roleDisplay":"VerfasserIn","family":"Rotstein","role":"aut"},{"roleDisplay":"VerfasserIn","family":"Ludwig","role":"aut","given":"Michael","display":"Ludwig, Michael"},{"given":"Gundela","display":"Holmdahl, Gundela","family":"Holmdahl","roleDisplay":"VerfasserIn","role":"aut"},{"role":"aut","family":"Giorgio","roleDisplay":"VerfasserIn","display":"Giorgio, Elisa","given":"Elisa"},{"role":"aut","family":"Berettini","roleDisplay":"VerfasserIn","display":"Berettini, Alfredo","given":"Alfredo"},{"given":"David","display":"Keene, David","family":"Keene","roleDisplay":"VerfasserIn","role":"aut"},{"display":"Cervellione, Raimondo M.","given":"Raimondo M.","role":"aut","roleDisplay":"VerfasserIn","family":"Cervellione"},{"given":"Nina","display":"Younsi, Nina","roleDisplay":"VerfasserIn","family":"Younsi","role":"aut"},{"family":"Ortlieb","roleDisplay":"VerfasserIn","role":"aut","given":"Melissa","display":"Ortlieb, Melissa"},{"role":"aut","family":"Oswald","roleDisplay":"VerfasserIn","display":"Oswald, Josef","given":"Josef"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Haid","display":"Haid, Bernhard","given":"Bernhard"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Promm","display":"Promm, Martin","given":"Martin"},{"roleDisplay":"VerfasserIn","family":"Neissner","role":"aut","given":"Claudia","display":"Neissner, Claudia"},{"given":"Karin","display":"Hirsch, Karin","roleDisplay":"VerfasserIn","family":"Hirsch","role":"aut"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Stehr","display":"Stehr, Maximilian","given":"Maximilian"},{"family":"Schäfer","roleDisplay":"VerfasserIn","role":"aut","given":"Frank-Mattias","display":"Schäfer, Frank-Mattias"},{"role":"aut","family":"Schmiedeke","roleDisplay":"VerfasserIn","display":"Schmiedeke, Eberhard","given":"Eberhard"},{"display":"Boemers, Thomas M.","given":"Thomas M.","role":"aut","family":"Boemers","roleDisplay":"VerfasserIn"},{"given":"Iris A. L. M.","display":"van Rooij, Iris A. L. M.","roleDisplay":"VerfasserIn","family":"van Rooij","role":"aut"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Feitz","display":"Feitz, Wouter F. J.","given":"Wouter F. J."},{"display":"Marcelis, Carlo L. M.","given":"Carlo L. M.","role":"aut","family":"Marcelis","roleDisplay":"VerfasserIn"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Lacher","display":"Lacher, Martin","given":"Martin"},{"display":"Nelson, Jana","given":"Jana","role":"aut","roleDisplay":"VerfasserIn","family":"Nelson"},{"display":"Ure, Benno","given":"Benno","role":"aut","family":"Ure","roleDisplay":"VerfasserIn"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Fortmann","display":"Fortmann, Caroline","given":"Caroline"},{"family":"Gale","roleDisplay":"VerfasserIn","role":"aut","given":"Daniel P.","display":"Gale, Daniel P."},{"family":"Chan","roleDisplay":"VerfasserIn","role":"aut","given":"Melanie M. Y.","display":"Chan, Melanie M. Y."},{"roleDisplay":"VerfasserIn","family":"Ludwig","role":"aut","given":"Kerstin U.","display":"Ludwig, Kerstin U."},{"display":"Nöthen, Markus Maria","given":"Markus Maria","role":"aut","family":"Nöthen","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","family":"Heilmann","role":"aut","given":"Stefanie","display":"Heilmann, Stefanie"},{"display":"Zwink, Nadine","given":"Nadine","role":"aut","family":"Zwink","roleDisplay":"VerfasserIn"},{"given":"Ekkehart","display":"Jenetzky, Ekkehart","family":"Jenetzky","roleDisplay":"VerfasserIn","role":"aut"},{"given":"Benjamin","display":"Odermatt, Benjamin","roleDisplay":"VerfasserIn","family":"Odermatt","role":"aut"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Knapp","display":"Knapp, Michael","given":"Michael"},{"role":"aut","roleDisplay":"VerfasserIn","family":"Reutter","display":"Reutter, Heiko","given":"Heiko"}],"note":["Gesehen am 18.07.2023"],"id":{"doi":["10.1038/s42003-022-04092-3"],"eki":["1852866802"]},"relHost":[{"id":{"zdb":["2919698-X"],"eki":["101369080X"],"issn":["2399-3642"]},"type":{"media":"Online-Ressource","bibl":"periodical"},"pubHistory":["1 (2018)-"],"title":[{"title_sort":"Communications biology","title":"Communications biology"}],"disp":"A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophyCommunications biology","recId":"101369080X","part":{"year":"2022","volume":"5","text":"5(2022) vom: Nov., Artikel-ID 1203, Seite 1-11","extent":"11","pages":"1-11"},"physDesc":[{"extent":"Online-Ressource"}],"language":["eng"],"origin":[{"dateIssuedDisp":"[2018]-","publisherPlace":"London","publisher":"Springer Nature"}]}],"recId":"1852866802","title":[{"title":"A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy","title_sort":"genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy"}],"name":{"displayForm":["Enrico Mingardo, Glenda Beaman, Philip Grote, Agneta Nordenskjöld, William Newman, Adrian S. Woolf, Markus Eckstein, Alina C. Hilger, Gabriel C. Dworschak, Wolfgang Rösch, Anne-Karolin Ebert, Raimund Stein, Alfredo Brusco, Massimo Di Grazia, Ali Tamer, Federico M. Torres, Jose L. Hernandez, Philipp Erben, Carlo Maj, Jose M. Olmos, Jose A. Riancho, Carmen Valero, Isabel C. Hostettler, Henry Houlden, David J. Werring, Johannes Schumacher, Jan Gehlen, Ann-Sophie Giel, Benedikt C. Buerfent, Samara Arkani, Elisabeth Åkesson, Emilia Rotstein, Michael Ludwig, Gundela Holmdahl, Elisa Giorgio, Al 
JSO |a fredo Berettini, David Keene, Raimondo M. Cervellione, Nina Younsi, Melissa Ortlieb, Josef Oswald, Bernhard Haid, Martin Promm, Claudia Neissner, Karin Hirsch, Maximilian Stehr, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Iris A.L.M. van Rooij, Wouter F.J. Feitz, Carlo L.M. Marcelis, Martin Lacher, Jana Nelson, Benno Ure, Caroline Fortmann, Daniel P. Gale, Melanie M.Y. Chan, Kerstin U. Ludwig, Markus M. Nöthen, Stefanie Heilmann, Nadine Zwink, Ekkehart Jenetzky, Benjamin Odermatt, Michael Knapp and Heiko Reutter"]},"physDesc":[{"extent":"11 S."}],"language":["eng"],"origin":[{"dateIssuedKey":"2022","dateIssuedDisp":"09 November 2022"}]} 
SRT |a MINGARDOENGENOMEWIDE0920