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

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Title: A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
Authors: Mingardo E; Institute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn, Bonn, Germany. enming@uni-bonn.de.; Institute for Neuroanatomy, University Hospital Bonn, University of Bonn, Bonn, Germany. enming@uni-bonn.de.; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany. enming@uni-bonn.de., Beaman G; Centre for Genomic Medicine, University of Manchester, Manchester, UK., Grote P; Institute of Cardiovascular Regeneration, Centre for Molecular Medicine, Goethe University, Frankfurt am Main, Germany.; Georg-Speyer-Haus, Frankfurt am Main, Germany., Nordenskjöld A; Department of Women´s and Children´s Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Pediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden., Newman W; Centre for Genomic Medicine, University of Manchester, Manchester, UK., Woolf AS; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., Eckstein M; Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.; Comprehensive Cancer Center Erlangen-EMN (CCC ER-EMN), Erlangen, Germany.; BRIDGE-Consortium Germany e.V., Mannheim, Germany., Hilger AC; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany.; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany., Dworschak GC; Institute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn, Bonn, Germany.; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany., Rösch W; Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center of Regensburg, Regensburg, Germany., Ebert AK; Department of Urology and Pediatric Urology, University Hospital of Ulm, Ulm, Germany., Stein R; Center for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, Heidelberg University, Mannheim, Germany., Brusco A; Department of Medical Sciences and Medical Genetics Unit, Città della Salute e della Scienza University Hospital, University of Torino, Torino, Italy., Di Grazia M; Institute for Maternal and Child Health, IRCCS Burlo Garofalo, Trieste, Italy., Tamer A; Institute of Cardiovascular Regeneration, Centre for Molecular Medicine, Goethe University, Frankfurt am Main, Germany., Torres FM; Translational Pediatrics and Infectious Diseases, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Spain., Hernandez JL; Department of Internal Medicine, Hospital U M Valdecilla, University of Cantabria, IDIVAL, Santander, Spain., Erben P; BRIDGE-Consortium Germany e.V., Mannheim, Germany.; Department of Urology and Urosurgery, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany., Maj C; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Olmos JM; Department of Internal Medicine. Hospital U M Valdecilla, University of Cantabria, IDIVAL, Santander, Spain., Riancho JA; Department of Internal Medicine. Hospital U M Valdecilla, University of Cantabria, IDIVAL, Santander, Spain., Valero C; Department of Internal Medicine. Hospital U M Valdecilla, University of Cantabria, IDIVAL, Santander, Spain., Hostettler IC; Stroke Research Centre, University College London, Institute of Neurology, London, UK.; Neurogenetics Laboratory, The National Hospital of Neurology and Neurosurgery, London, UK.; Department of Neurosurgery, Klinikum rechts der Isar, Technical University Munich, Munich, Germany., Houlden H; Neurogenetics Laboratory, The National Hospital of Neurology and Neurosurgery, London, UK., Werring DJ; Stroke Research Center, Department of Brain Repair and Rehabilitation, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Schumacher J; Institute for Human Genetics, University of Marburg, Marburg, Germany., Gehlen J; Institute for Human Genetics, University of Marburg, Marburg, Germany., Giel AS; Institute for Human Genetics, University of Marburg, Marburg, Germany., Buerfent BC; Institute for Human Genetics, University of Marburg, Marburg, Germany., Arkani S; Department of Women's and Children's Health and Center for Molecular Medicine, Bioclinicum, Karolinska Institutet, Stockholm, Sweden.; Department of Urology, Danderyds Hospital, Danderyd, Sweden., Åkesson E; Division of Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.; R&D Unit, Stockholms Sjukhem, Stockholm, Sweden., Rotstein E; ME Gynecology and Reproduction Medicine, Karolinska University Hospital, and Dept of Clintec, Karolinska Institutet, Stockholm, Sweden., Ludwig M; Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany., Holmdahl G; Department of Pediatric Surgery, Queen Silvia Children's Hospital, Gothenburg, Sweden., Giorgio E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Laboratory of Molecular Medicine and Cytogenetics, IRCCS Mondino Foundation, Pavia, Italy., Berettini A; Pediatric Urology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Keene D; Paediatric Urology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Cervellione RM; Paediatric Urology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Younsi N; Center for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, Heidelberg University, Mannheim, Germany., Ortlieb M; Department of Urology and Pediatric Urology, University Hospital of Ulm, Ulm, Germany., Oswald J; Department for Pediatric Urology, Ordensklinikum Linz, Hospital of the Sisters of Charity, Linz, Austria., Haid B; Center for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, Heidelberg University, Mannheim, Germany.; Department for Pediatric Urology, Ordensklinikum Linz, Hospital of the Sisters of Charity, Linz, Austria., Promm M; Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center of Regensburg, Regensburg, Germany., Neissner C; Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center of Regensburg, Regensburg, Germany., Hirsch K; Division of Pediatric Urology, Department of Urology, University of Erlangen-Nürnberg, Erlangen, Germany., Stehr M; Department of Pediatric Surgery and Urology, Klinik Hallerwiese-Cnopfsche Kinderklinik, Nürnberg, Germany., Schäfer FM; Department of Pediatric Surgery and Urology, Klinik Hallerwiese-Cnopfsche Kinderklinik, Nürnberg, Germany.; Department of Urology and Pediatric Urology, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany., Schmiedeke E; Clinic for Paediatric Surgery and Paediatric Urology, Klinikum Bremen-Mitte, Bremen, Germany., Boemers TM; Department of Pediatric Surgery and Urology, University Hospital Cologne, Cologne, Germany., van Rooij IALM; Department of Pediatric Surgery, University of Leipzig, Leipzig, Germany., Feitz WFJ; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Marcelis CLM; Department of Urology, Pediatric Urology Center, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Lacher M; Department of Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Nelson J; Department of Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Ure B; Center of Pediatric Surgery Hannover, Hannover Medical School, Hannover, Germany., Fortmann C; Center of Pediatric Surgery Hannover, Hannover Medical School, Hannover, Germany., Gale DP; Department of Renal Medicine, University College London, London, UK., Chan MMY; Department of Renal Medicine, University College London, London, UK., Ludwig KU; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany., Nöthen MM; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany., Heilmann S; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany., Zwink N; Department of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Jenetzky E; Department of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.; Faculty of Health, School of Medicine, University of Witten/Herdecke, Witten, Germany., Odermatt B; Institute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn, Bonn, Germany.; Institute for Neuroanatomy, University Hospital Bonn, University of Bonn, Bonn, Germany., Knapp M; Institute of Medical Biometry, Informatics, and Epidemiology, University of Bonn, Bonn, Germany., Reutter H; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany. Heiko.Reutter@uk-erlangen.de.; Division of Neonatology and Pediatric Intensive Care Medicine, Department of Pediatric and Adolescent Medicine, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany. Heiko.Reutter@uk-erlangen.de.
Source: Communications biology [Commun Biol] 2022 Nov 09; Vol. 5 (1), pp. 1203. Date of Electronic Publication: 2022 Nov 09.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group UK Country of Publication: England NLM ID: 101719179 Publication Model: Electronic Cited Medium: Internet ISSN: 2399-3642 (Electronic) Linking ISSN: 23993642 NLM ISO Abbreviation: Commun Biol Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:2399-3642
DOI:10.1038/s42003-022-04092-3