0000000000794183

AUTHOR

Simon Wilkins

0000-0001-7712-4114

showing 1 related works from this author

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development

2017

AbstractPreviously 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 × 10−08). A meta-analysis of rs6874700 of our previous and prese…

0301 basic medicinemedicine.medical_specialtyPathologyMesenchymeUrinary systemOrganogenesisLIM-Homeodomain ProteinsLocus (genetics)030105 genetics & heredityBiologyPolymorphism Single Nucleotidebladder extrophyArticlePronephrosMesoderm03 medical and health sciencesMiceBEEC bladder extrophy urinary tract development ISL1GenotypemedicineAnimalsHumansProtein IsoformsGenetic Predisposition to DiseaseBEECUrinary TractGeneZebrafishGeneticsMultidisciplinaryBladder ExstrophyGene Expression Regulation DevelopmentalISL1medicine.diseaseEmbryo Mammalianurinary tract developmentBladder exstrophy030104 developmental biologymedicine.anatomical_structureReconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10]LarvaISL1Medical geneticsFemaleTranscription FactorsRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Scientific Reports
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