ArticleAmerican journal of human genetics2019
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
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Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26citing papers in PubMed
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26 citing papers in PubMed, 45 citations in OpenAlex.
- Natural Product Toosendanin Suppresses the Malignant Development of Skin Melanoma by Targeting BNC2 for Degradation.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
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- Early diagnosis and intervention in congenital lower urinary tract obstruction: time to revise our approach?Pediatric nephrology (Berlin, Germany) · 2026Review
- BNC2 in Development and Disease: Regulatory Mechanisms and Translational Implications.Molecules (Basel, Switzerland) · 2026Review
- BNC2 as a putative transcriptional coordinator linking energy state to neural circuits.iScience · 2026Review
- Genetics of CAKUT.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- FLNA ROD1 and ROD2 Domains are Implicated in Congenital Lower Urinary Tract Obstruction.Kidney international reports · 2025Article
- Haploinsufficiency ofFrontiers in cell and developmental biology · 2025Article
- Familial congenital lower urinary tract obstruction (LUTO) suggested by screening for lower urinary tract dysfunction in parents of patients: A descriptive study.Health science reports · 2024Article
- The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction.Prenatal diagnosis · 2024Article
- Basonuclin-2 regulates extracellular matrix production and degradation.Life science alliance · 2023Article
- X-linked variations inJournal of medical genetics · 2023Article
- Analysis of CDR3 Sequences from T-Cell Receptor β in Acute Respiratory Distress Syndrome.Biomolecules · 2023Article
- Modelling human lower urinary tract malformations in zebrafish.Molecular and cellular pediatrics · 2023Review
- Clinical variant interpretation and biologically relevant reference transcripts.NPJ genomic medicine · 2022Article
- The genetic basis of congenital anomalies of the kidney and urinary tract.Pediatric nephrology (Berlin, Germany) · 2022Review
- Article
- Functional genomics uncovers the transcription factor BNC2 as required for myofibroblastic activation in fibrosis.Nature communications · 2022Article
- Chronic Kidney Disease in Boys with Posterior Urethral Valves-Pathogenesis, Prognosis and Management.Biomedicines · 2022Review
- Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.Kidney international · 2022Review
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Authors and funding
40 authors at 17 institutions in 5 countries.
Caroline M KolvenbachDepartment of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Institute of Anatomy, University of Bonn, 53115 Bonn, Germany; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States.
Gabriel C DworschakDepartment of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Institute of Anatomy, University of Bonn, 53115 Bonn, Germany; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Sandra FreseDepartment of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Anna S JappInstitute of Neuropathology, University of Bonn Medical Center, 53127 Bonn, Germany.
Peggy SchusterInstitute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, 60439 Frankfurt am Main, Germany.
Nina WenzlitschkeInstitute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, 60439 Frankfurt am Main, Germany.
Öznur YilmazInstitute of Anatomy, University of Bonn, 53115 Bonn, Germany.
Filipa M LopesDivision of Cell Matrix and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centere, Manchester M13 9PT, United Kingdom.
Alexey PryalukhinInstitute of Pathology, University Hospital Bonn, 53127 Bonn, Germany.
Luca SchierbaumDepartment of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Loes F M van der ZandenRadboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
Franziska KauseDepartment of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States.
Ronen SchneiderDivision of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States.
Katarzyna Taranta-JanuszDepartment of Pediatrics and Nephrology, Medical University of Białystok, 15-089 Białystok, Poland.
Maria SzczepańskaDepartment and Clinics of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, 40-055 Zabrze, Poland.
Krzysztof PawlaczykDepartment of Nephrology, Transplantology, and Internal Medicine, Poznan University of Medical Sciences, 61-701 Poznan, Poland.
William G NewmanDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom.
Glenda M BeamanDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom.
Helen M StuartDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom.
Raimondo M CervellionePaediatric Urology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, United Kingdom.
Wouter F J FeitzDepartment of Urology, Pediatric Urology, Radboudumc Amalia Children's Hospital, 6525 GA Nijmegen, the Netherlands.
Iris A L M van RooijRadboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Department of Surgery-Pediatric Surgery, Radboudumc Amalia Children's Hospital, 6525 GA Nijmegen, the Netherlands.
Michiel F SchreuderDepartment of Pediatric Nephrology, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Amalia Children's Hospital, 6525 GA Nijmegen, the Netherlands.
Martijn SteffensDepartment of Urology, Isala, 8025 AB Zwolle, the Netherlands.
Stefanie WeberDepartment of Pediatrics, University Hospital Marburg, 35037 Marburg, Germany.
Waltraut M MerzDepartment of Obstetrics and Prenatal Medicine, University of Bonn, 53127 Bonn, Germany.
Markus FeldkötterDivision of Pediatric Nephrology, Department of Pediatrics, University Hospital Bonn, 53129 Bonn, Germany.
Bernd HoppeDivision of Pediatric Nephrology, Department of Pediatrics, University Hospital Bonn, 53129 Bonn, Germany.
Holger ThieleCologne Center for Genomics, University of Cologne, 50391 Cologne, Germany.
Janine AltmüllerCologne Center for Genomics, University of Cologne, 50391 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50391 Cologne, Germany.
Christoph BergDepartment of Obstetrics and Prenatal Medicine, University of Bonn, 53127 Bonn, Germany.
Glen KristiansenDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom.
Michael LudwigDepartment of Clinical Chemistry and Clinical Pharmacology, University of Bonn, 53127 Bonn, Germany.
Heiko ReutterInstitute of Human Genetics, University of Bonn, 53127 Bonn, Germany; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, 53127 Bonn, Germany.
Adrian S WoolfDivision of Cell Matrix and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centere, Manchester M13 9PT, United Kingdom.
Friedhelm HildebrandtDivision of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States.
Phillip GroteInstitute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, 60439 Frankfurt am Main, Germany.
Marcin ZaniewDepartment of Pediatrics, University of Zielona Góra, 56-417 Zielona Góra, Poland.
Benjamin OdermattInstitute of Anatomy, University of Bonn, 53115 Bonn, Germany; Institute of Neuro-Anatomy, University of Bonn, 53115 Bonn, Germany. Electronic address: b.odermatt@uni-bonn.de.
Alina C HilgerDepartment of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany. Electronic address: alina.hilger@uni-bonn.de.
University of Bonn · DEUniversity of Manchester · GBUniversity Hospital Bonn · DEGoethe University Frankfurt · DEHarvard University · USRadboud University Medical Center · NLRadboud University Nijmegen · NLUniversity of Cologne · DEBoston Children's Hospital · USIsala · NLManchester Academic Health Science Centre · GBMedical University of Białystok · PLMedical University of Silesia · PLPhilipps University of Marburg · DEPoznan University of Medical Sciences · PLRoyal Manchester Children's Hospital · GBUniversity of Zielona Góra · PL
Funding
New genes and pathomechanisms of congenital abnormalities of the kidney (CAKUT)R01DK088767 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2010 to 2019
$3.4MMedical Research Council MR/R006237/1NIDDK NIH HHS R01 DK088767
Abstract
Congenital lower urinary-tract obstruction (LUTO) is caused by anatomical blockage of the bladder outflow tract or by functional impairment of urinary voiding. About three out of 10,000 pregnancies are affected. Although several monogenic causes of functional obstruction have been defined, it is unknown whether congenital LUTO caused by anatomical blockage has a monogenic cause. Exome sequencing in a family with four affected individuals with anatomical blockage of the urethra identified a rare nonsense variant (c.2557C>T [p.Arg853
Indexed as
Chromosome AberrationsMutationAdultAnimalsChildDNA-Binding ProteinsFemaleFetal DiseasesGenes, DominantGestational AgeHumansMaleMiceMiddle AgedPedigreePregnancyBNC2 protein, humanDNA-Binding Proteinsbasonuclin 2BNC2cloacaedistal pronephric outlet obstructionfunctional geneticslower urinary tract obstructionLUTOposterior urethral valvepronephric developmentzebrafish
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