Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy

12 Mar 2015

Abstract excerpt

The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the uro-rectal malformation spectrum, and is thought to result from aberrant embryonic morphogenesis of the cloacal membrane and the urorectal septum. The most common form of BEEC is isolated classic bladder exstrophy (CBE). To identify susceptibility loci for CBE, we performed a genome-wide association study (GWAS) of 110 CBE patients...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Urinary and Genital Oncology Studies
Share to Urologic and reproductive health conditions
Share to Urological Disorders and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25763902
DOI: 10.1371/journal.pgen.1005024

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder ExstrophyPMID 25763902Read ↗

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.Semantic proximity Read ↗

Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial PhenotypesSemantic proximity Read ↗

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.Semantic proximity Read ↗

The Genomic Architecture of Bladder Exstrophy Epispadias Complex.Semantic proximity Read ↗

Isl1 mediates mesenchymal expansion in the developing external genitalia via regulation of Bmp4, Fgf10 and Wnt5aSemantic proximity Read ↗

Clinical and molecular characterization of the bladder exstrophy‐epispadias complex: analysis of 232 familiesSemantic proximity Read ↗

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophySemantic proximity Read ↗

Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe.Semantic proximity Read ↗

Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family.Semantic proximity Read ↗

Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex.Semantic proximity Read ↗

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR -Gene Family.Semantic proximity Read ↗

New Insights on the Basic Science of Bladder Exstrophy-epispadias Complex.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.