ArticlemedRxiv : the preprint server for health sciences2023
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Article in medRxiv : the preprint server for health sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
52 authors at 16 institutions in 5 countries.
Korbinian M RiedhammerInstitute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.
Thanh-Minh T NguyenDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.
Can KoşukcuDepartment of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, 06100, Türkiye.
Julia Calzada-WackInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.
Yong LiInstitute of Genetic Epidemiology, Faculty of Medicine and University Medical Center Freiburg, 79106 Freiburg, Germany.
Seha SaygılıDepartment of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.
Vera WimmersInstitute of Experimental and Clinical Pharmacology and Toxicology II, Faculty of Medicine, University of Freiburg and, BIOSS Centre of Biological Signalling Studies, Albert-Ludwigs-University, Freiburg, 79104, Germany.
Gwang-Jin KimInstitute of Experimental and Clinical Pharmacology and Toxicology II, Faculty of Medicine, University of Freiburg and, BIOSS Centre of Biological Signalling Studies, Albert-Ludwigs-University, Freiburg, 79104, Germany.
Marialena ChrysanthouDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.
Zeineb BakeyDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.
Markus KraigerInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.
Adrián Sanz-MorenoInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.
Oana V AmarieInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.
Birgit RathkolbInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.
Tanja Klein-RodewaldInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.
Lillian GarrettInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.
Sabine M HölterInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.
Claudia SeisenbergerInstitute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-University Munich, Munich, 81377, Germany.
Stefan HaugInstitute of Genetic Epidemiology, Faculty of Medicine and University Medical Center Freiburg, 79106 Freiburg, Germany.
Susan MarschallInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.
Wolfgang WurstInstitute of Developmental Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, 85764, Germany.
Helmut FuchsInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.
Valerie Gailus-DurnerInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.
Matthias WuttkeInstitute of Genetic Epidemiology, Faculty of Medicine and University Medical Center Freiburg, 79106 Freiburg, Germany.
Martin Hrabe de AngelisInstitute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.
Jasmina ĆomićInstitute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.
Özlem Akgün DoğanDepartment of Pediatric Genetics, Acibadem Mehmet Ali Aydinlar University, Faculty of Medicine, Istanbul, Türkiye.
Yasemin ÖzlükDepartment of Pathology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Türkiye.
Mehmet TaşdemirDepartment of Pediatric Nephrology, Istinye University School of Medicine, Liv Hospital, Istanbul, Türkiye.
Ayşe AğbaşDepartment of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.
Nur CanpolatDepartment of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.
Salim ĆalışkanDepartment of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.
Ruthild WeberDepartment of Human Genetics, Hannover Medical School, Hannover, 30625, Germany.
Carsten BergmannMedizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.
Cecile JeanpierreInserm U1163, Laboratoire des Maladies Renales Hereditaires Institut Imagine, Université de Paris, Paris, France.
Sophie SaunierInserm U1163, Laboratoire des Maladies Renales Hereditaires Institut Imagine, Université de Paris, Paris, France.
Tze Y LimDepartment of Medicine, Division of Nephrology, Columbia University, New York, New York, USA.
Friedhelm HildebrandtDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Bader AlhaddadInstitute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.
Kaman WuDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.
Dinu AntonyDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.
Julia MatschkalDepartment of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.
Christian SchaafInstitute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.
Lutz RendersDepartment of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.
Christoph SchmadererDepartment of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.
Thomas MeitingerInstitute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.
Uwe HeemannDepartment of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.
Anna KöttgenInstitute of Genetic Epidemiology, Faculty of Medicine and University Medical Center Freiburg, 79106 Freiburg, Germany.
Sebastian ArnoldInstitute of Experimental and Clinical Pharmacology and Toxicology II, Faculty of Medicine, University of Freiburg and, BIOSS Centre of Biological Signalling Studies, Albert-Ludwigs-University, Freiburg, 79104, Germany.
Fatih OzaltinDepartment of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, 06100, Türkiye.
Miriam SchmidtsDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.
Julia HoefeleInstitute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.
Helmholtz Zentrum München · DETUM Klinikum · DERadboud University Nijmegen · NLUniversity of Freiburg · DEIstanbul University-Cerrahpaşa · TRUniversity Medical Center Freiburg · DEHacettepe University · TRInserm · FRBoston Children's Hospital · USColumbia University · USGerman Center for Neurodegenerative Diseases · DEIstanbul University · TRIstinye University · TRKent Hastanesi · TRLudwig-Maximilians-Universität München · DEMedizinische Hochschule Hannover · DE
Funding
Novel genetics, pathobiology & therapy of nephronophthisis-related ciliopathiesR01DK068306 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2004 to 2022
$6.6MNIDDK NIH HHS R01 DK068306
Abstract
Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are the predominant cause for chronic kidney disease below 30 years of age. Many monogenic forms have been discovered mainly due to comprehensive genetic testing like exome sequencing (ES). However, disease-causing variants in known disease-associated genes still only explain a proportion of cases. Aim of this study was to unravel the underlying molecular mechanism of syndromic CAKUT in two multiplex families with presumed autosomal recessive inheritance. Methods and Results: ES in the index individuals revealed two different rare homozygous variants in Conclusions: In summary, our data implicate that
Indexed as
CAKUTchronic kidney diseaseFOXD2PAX2renal hypoplasiaWNT4
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.