A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy
A genome-wide association study on classic bladder exstrophy reveals eight genome-wide significant loci, most of which contained genes expressed in embryonic developmental bladder stages.
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2022-11-01
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| Series: | Communications Biology |
| Online Access: | https://doi.org/10.1038/s42003-022-04092-3 |
| _version_ | 1817970652607414272 |
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| author | 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 Heiko Reutter |
| author_facet | 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 Heiko Reutter |
| author_sort | Enrico Mingardo |
| collection | DOAJ |
| description | A genome-wide association study on classic bladder exstrophy reveals eight genome-wide significant loci, most of which contained genes expressed in embryonic developmental bladder stages. |
| first_indexed | 2024-04-13T20:36:49Z |
| format | Article |
| id | doaj.art-3185cad232344b7081367260f4859843 |
| institution | Directory Open Access Journal |
| issn | 2399-3642 |
| language | English |
| last_indexed | 2024-04-13T20:36:49Z |
| publishDate | 2022-11-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Communications Biology |
| spelling | doaj.art-3185cad232344b7081367260f48598432022-12-22T02:31:01ZengNature PortfolioCommunications Biology2399-36422022-11-015111110.1038/s42003-022-04092-3A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophyEnrico Mingardo0Glenda Beaman1Philip Grote2Agneta Nordenskjöld3William Newman4Adrian S. Woolf5Markus Eckstein6Alina C. Hilger7Gabriel C. Dworschak8Wolfgang Rösch9Anne-Karolin Ebert10Raimund Stein11Alfredo Brusco12Massimo Di Grazia13Ali Tamer14Federico M. Torres15Jose L. Hernandez16Philipp Erben17Carlo Maj18Jose M. Olmos19Jose A. Riancho20Carmen Valero21Isabel C. Hostettler22Henry Houlden23David J. Werring24Johannes Schumacher25Jan Gehlen26Ann-Sophie Giel27Benedikt C. Buerfent28Samara Arkani29Elisabeth Åkesson30Emilia Rotstein31Michael Ludwig32Gundela Holmdahl33Elisa Giorgio34Alfredo Berettini35David Keene36Raimondo M. Cervellione37Nina Younsi38Melissa Ortlieb39Josef Oswald40Bernhard Haid41Martin Promm42Claudia Neissner43Karin Hirsch44Maximilian Stehr45Frank-Mattias Schäfer46Eberhard Schmiedeke47Thomas M. Boemers48Iris A. L. M. van Rooij49Wouter F. J. Feitz50Carlo L. M. Marcelis51Martin Lacher52Jana Nelson53Benno Ure54Caroline Fortmann55Daniel P. Gale56Melanie M. Y. Chan57Kerstin U. Ludwig58Markus M. Nöthen59Stefanie Heilmann60Nadine Zwink61Ekkehart Jenetzky62Benjamin Odermatt63Michael Knapp64Heiko Reutter65Institute for Anatomy and Cell Biology, University Hospital Bonn, University of BonnCentre for Genomic Medicine, University of ManchesterInstitute of Cardiovascular Regeneration, Centre for Molecular Medicine, Goethe UniversityDepartment of Women´s and Children´s Health and Center for Molecular Medicine, Karolinska InstitutetCentre for Genomic Medicine, University of ManchesterDivision of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology Medicine and Health, School of Biological Sciences, University of ManchesterInstitute of Pathology, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-NürnbergInstitute of Human Genetics, School of Medicine & University Hospital Bonn, University of BonnInstitute for Anatomy and Cell Biology, University Hospital Bonn, University of BonnDepartment of Pediatric Urology, Clinic St. Hedwig, University Medical Center of RegensburgDepartment of Urology and Pediatric Urology, University Hospital of UlmCenter for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, Heidelberg UniversityDepartment of Medical Sciences and Medical Genetics Unit, Città della Salute e della Scienza University Hospital, University of TorinoInstitute for Maternal and Child Health, IRCCS Burlo GarofaloInstitute of Cardiovascular Regeneration, Centre for Molecular Medicine, Goethe UniversityTranslational Pediatrics and Infectious Diseases, Hospital Clínico Universitario de SantiagoDepartment of Internal Medicine, Hospital U M Valdecilla, University of Cantabria, IDIVALBRIDGE-Consortium Germany e.V.Institute of Genomic Statistics and Bioinformatics, University of BonnDepartment of Internal Medicine. Hospital U M Valdecilla, University of Cantabria, IDIVALDepartment of Internal Medicine. Hospital U M Valdecilla, University of Cantabria, IDIVALDepartment of Internal Medicine. Hospital U M Valdecilla, University of Cantabria, IDIVALStroke Research Centre, University College London, Institute of NeurologyNeurogenetics Laboratory, The National Hospital of Neurology and NeurosurgeryStroke Research Center, Department of Brain Repair and Rehabilitation, UCL Institute of Neurology and The National Hospital for Neurology and NeurosurgeryInstitute for Human Genetics, University of MarburgInstitute for Human Genetics, University of MarburgInstitute for Human Genetics, University of MarburgInstitute for Human Genetics, University of MarburgDepartment of Women’s and Children’s Health and Center for Molecular Medicine, Bioclinicum, Karolinska InstitutetDivision of Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Karolinska InstitutetME Gynecology and Reproduction Medicine, Karolinska University Hospital, and Dept of Clintec, Karolinska InstitutetDepartment of Clinical Chemistry and Clinical Pharmacology, University of BonnDepartment of Pediatric Surgery, Queen Silvia Children’s HospitalDepartment of Molecular Medicine, University of PaviaPediatric Urology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoPaediatric Urology, Royal Manchester Children’s Hospital, Central Manchester University Hospitals NHS Foundation TrustPaediatric Urology, Royal Manchester Children’s Hospital, Central Manchester University Hospitals NHS Foundation TrustCenter for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, Heidelberg UniversityDepartment of Urology and Pediatric Urology, University Hospital of UlmDepartment for Pediatric Urology, Ordensklinikum Linz, Hospital of the Sisters of CharityCenter for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, Heidelberg UniversityDepartment of Pediatric Urology, Clinic St. Hedwig, University Medical Center of RegensburgDepartment of Pediatric Urology, Clinic St. Hedwig, University Medical Center of RegensburgDivision of Pediatric Urology, Department of Urology, University of Erlangen-NürnbergDepartment of Pediatric Surgery and Urology, Klinik Hallerwiese-Cnopfsche KinderklinikDepartment of Pediatric Surgery and Urology, Klinik Hallerwiese-Cnopfsche KinderklinikClinic for Paediatric Surgery and Paediatric Urology, Klinikum Bremen-MitteDepartment of Pediatric Surgery and Urology, University Hospital CologneDepartment of Pediatric Surgery, University of LeipzigDepartment for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical CenterDepartment of Urology, Pediatric Urology Center, Radboud University Nijmegen Medical CenterDepartment of Genetics, Radboud University Nijmegen Medical CenterDepartment of Genetics, Radboud University Nijmegen Medical CenterCenter of Pediatric Surgery Hannover, Hannover Medical SchoolCenter of Pediatric Surgery Hannover, Hannover Medical SchoolDepartment of Renal Medicine, University College LondonDepartment of Renal Medicine, University College LondonInstitute of Human Genetics, School of Medicine & University Hospital Bonn, University of BonnInstitute of Human Genetics, School of Medicine & University Hospital Bonn, University of BonnInstitute of Human Genetics, School of Medicine & University Hospital Bonn, University of BonnDepartment of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University MainzDepartment of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University MainzInstitute for Anatomy and Cell Biology, University Hospital Bonn, University of BonnInstitute of Medical Biometry, Informatics, and Epidemiology, University of BonnInstitute of Human Genetics, School of Medicine & University Hospital Bonn, University of BonnA genome-wide association study on classic bladder exstrophy reveals eight genome-wide significant loci, most of which contained genes expressed in embryonic developmental bladder stages.https://doi.org/10.1038/s42003-022-04092-3 |
| spellingShingle | 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 Heiko Reutter A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy Communications Biology |
| title | A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy |
| title_full | A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy |
| title_fullStr | A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy |
| title_full_unstemmed | A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy |
| title_short | 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 |
| url | https://doi.org/10.1038/s42003-022-04092-3 |
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