ArticleScientific reports2017
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.
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Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18citing papers in PubMed
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18 citing papers in PubMed, 34 citations in OpenAlex.
- Genetic analysis of two bladder exstrophy populations of South Asian and North American origin.Journal of pediatric urology · 2025Article
- Ventral body wall closure: Mechanistic insights from mouse models and translation to human pathology.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Review
- Pathophysiology of Congenital Anomalies of the Kidney and Urinary Tract: A Comprehensive Review.Cells · 2024Review
- Homeobox and Polycomb target gene methylation in human solid tumors.Scientific reports · 2024Article
- Bladder exstrophy-epispadias-cloacal exstrophy complex: characteristics, aetiologies, and epidemiologic findings.African urology · 2024Article
- Analyzing the factors that contribute to the development of embryological classical type of bladder exstrophy.Anatomy & cell biology · 2023Review
- Genome-wide association study in patients with posterior urethral valves.Frontiers in pediatrics · 2022Article
- Review
- Article
- Maintenance of spatial gene expression by Polycomb-mediated repression after formation of a vertebrate body plan.Development (Cambridge, England) · 2019Article
- LIM homeodomain transcription factor Isl1 affects urethral epithelium differentiation and apoptosis via Shh.Cell death & disease · 2019Article
- Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies.Frontiers in pediatrics · 2019Review
- Recent Trends in the Management of Bladder Exstrophy: The Gordian Knot Has Not Yet Been Cut.Frontiers in pediatrics · 2019Review
- Towards a Central Role ofGenes · 2018Article
- Review
- Isl1 mediates mesenchymal expansion in the developing external genitalia via regulation of Bmp4, Fgf10 and Wnt5a.Human molecular genetics · 2018Article
- Evaluation of theHuman genome variation · 2018Article
- [The German research network CURE-Net : A benefit for patients with rare diseases].Der Urologe. Ausg. A · 2017Review
Corrections and comments
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Authors and funding
42 authors at 20 institutions in 11 countries.
Rong ZhangInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Michael KnappInstitute of Medical Biometry, Informatics, and Epidemiology, University of Bonn, Bonn, Germany.
Kentaro SuzukiDevelopmental Genetics, Institute of Advanced Medicine, Wakayama Medical University, Japan.
Daiki KajiokaDevelopmental Genetics, Institute of Advanced Medicine, Wakayama Medical University, Japan.
Johanna M SchmidtInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Jonas WinklerInstitute of Anatomy, University of Bonn, Bonn, Germany.
Öznur YilmazInstitute of Anatomy, University of Bonn, Bonn, Germany.
Michael PleschkaInstitute of Anatomy, University of Bonn, Bonn, Germany.
Jia CaoDepartment of Women´s and Children´s Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Christina Clementson KockumDepartment of Pediatric Surgery, University Hospital Lund, Lund, Sweden.
Gillian BarkerDepartment of Women's and Children's Health, Uppsala Academic Children Hospital, Uppsala, Sweden.
Gundela HolmdahlDepartment of Pediatric Surgery, Queen Silvias Children's Hospital, Gothenburg, Sweden.
Glenda BeamanCentre for Genomic Medicine, University of Manchester, Manchester, UK.
David KeenePaediatric Urology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Adrian S WoolfInstitute of Human Development, University of Manchester, Manchester Academic Health Science, Centre, Manchester, UK.
Raimondo M CervellionePaediatric Urology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Wei ChengDepartment of Pediatric Surgery, Capital Institute of Pediatrics, Beijing, People's Republic of China.
Simon WilkinsCabrini Monash University Department of Surgery, Cabrini Hospital, Melbourne, Australia.
John P GearhartDivision of Pediatric Urology, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Fabio SirchiaDepartment of Medical Sciences and Medical Genetics Unit, Città della Salute e della Scienza University Hospital, University of Torino, Torino, Italy.
Massimo Di GraziaInstitute for Maternal and Child Health, IRCCS Burlo Garofalo, Trieste, Italy.
Anne-Karolin EbertDepartment of Urology and Pediatric Urology, University Hospital of Ulm, Germany.
Wolfgang RöschDepartment of Pediatric Urology, St. Hedwig Hospital Barmherzige Brüder, Regensburg, Germany.
Jörg EllingerDepartment of Urology, University Hospital Bonn, Bonn, Germany.
Ekkehart JenetzkyDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany.
Nadine ZwinkDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany.
Wout F FeitzDepartment of Urology, Pediatric Urology Center, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Carlo MarcelisDepartment of Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Johannes SchumacherInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Federico Martinón-TorresTranslational Pediatrics and Infectious Diseases, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Spain.
Martin Lloyd HibberdGenome Institute of Singapore, Singapore.
Chiea Chuen KhorDivision of Genomic Medicine, Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA, USA.
Stefanie Heilmann-HeimbachInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Sandra BarthInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Simeon A BoyadjievDivision of Genomic Medicine, Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA, USA.
Alfredo BruscoDepartment of Medical Sciences and Medical Genetics Unit, Città della Salute e della Scienza University Hospital, University of Torino, Torino, Italy.
Michael LudwigDepartment of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.
William NewmanCentre for Genomic Medicine, University of Manchester, Manchester, UK.
Agneta NordenskjöldDepartment of Women´s and Children´s Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Gen YamadaDevelopmental Genetics, Institute of Advanced Medicine, Wakayama Medical University, Japan.
Benjamin OdermattInstitute of Anatomy, University of Bonn, Bonn, Germany.
Heiko ReutterInstitute of Human Genetics, University of Bonn, Bonn, Germany.
University of Bonn · DEUniversity of Manchester · GBWakayama Medical University · JPRadboud University Nijmegen · NLRoyal Manchester Children's Hospital · GBUniversity of California Davis Medical Center · USBeijing United Family Hospital · CNComplejo Hospitalario Universitario de Santiago · ESDrottning Silvias barn- och ungdomssjukhus · SEGenome Institute of Singapore · SGHeidelberg University · DEIRCCS Materno Infantile Burlo Garofolo · ITJohannes Gutenberg University Mainz · DEJohns Hopkins Medicine · USKarolinska Institutet · SEKarolinska University Hospital · SEKrankenhaus Barmherzige Brüder · DELund University · SEMonash University · AUUniversity Hospital Bonn · DE
Funding
Medical Research Council MR/L002744/1
Abstract
Previously genome-wide association methods in patients with classic bladder exstrophy (CBE) found association with ISL1, a master control gene expressed in pericloacal mesenchyme. This study sought to further explore the genetics in a larger set of patients following-up on the most promising genomic regions previously reported. Genotypes of 12 markers obtained from 268 CBE patients of Australian, British, German Italian, Spanish and Swedish origin and 1,354 ethnically matched controls and from 92 CBE case-parent trios from North America were analysed. Only marker rs6874700 at the ISL1 locus showed association (p = 2.22 × 10
Indexed as
Genetic Predisposition to DiseaseAnimalsBladder ExstrophyEmbryo, MammalianFemaleGene Expression Regulation, DevelopmentalHumansLarvaLIM-Homeodomain ProteinsMesodermMiceOrganogenesisPolymorphism, Single NucleotidePronephrosProtein IsoformsTranscription Factorsinsulin gene enhancer binding protein Isl-1LIM-Homeodomain ProteinsProtein IsoformsTranscription Factors
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