0000000000794185

AUTHOR

Anne K. Ebert

showing 2 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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Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible suscep…

2014

Item does not contain fulltext Bladder exstrophy-epispadias complex (BEEC), the severe end of the urorectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients presenting the most common BEEC form, classic bladder exstrophy (CBE), to identify common variation associated with risk for isolated CBE. We employed discovery and follow-up samples comprising 218 cases/865 controls and 78 trios in total, all of European descent. Our disc…

genetics [Wnt3 Protein]Genome-wide association studyGenomeConserved sequenceMiceIntergenic regionMedizinische FakultätSALL1 protein humanGenetics (clinical)Conserved SequenceGeneticsgenetics [Wnt Proteins]Association Studies ArticlesGeneral Medicinegenetics [Transcription Factors]genetics [European Continental Ancestry Group]WNT3 protein humanReconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10]metabolism [Wnt3 Protein]Medical geneticsmedicine.medical_specialtygenetics [White People]WNT9B protein human-BiologyPolymorphism Single NucleotideWhite Peopleembryology [Genitalia]Wnt3 Proteinpathology [Bladder Exstrophy]metabolism [Wnt Proteins]genetics [Bladder Exstrophy]ddc:570GeneticsmedicineAnimalsHumansGenetic Predisposition to Diseaseddc:610GenitaliaMolecular BiologyGeneBase SequenceBladder ExstrophyCase-control studymedicine.diseasemetabolism [Genitalia]Bladder exstrophyWnt ProteinsReconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10]Case-Control StudiesGenome-Wide Association StudyTranscription Factors
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