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

doi:10.1038/srep42170

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Article

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

Scientific reports - 8 Feb 2017

Zhang Rong, Knapp Michael, Suzuki Kentaro, Kajioka Daiki, Schmidt Johanna M, Winkler Jonas, Yilmaz Öznur, Pleschka Michael, Cao Jia, Kockum Christina Clementson, Barker Gillian, Holmdahl Gundela, Beaman Glenda, Keene David, Woolf Adrian S, Cervellione Raimondo M, Cheng Wei, Wilkins Simon, Gearhart John P, Sirchia Fabio, Di Grazia Massimo, Ebert Anne-Karolin, Rösch Wolfgang, Ellinger Jörg, Jenetzky Ekkehart, Zwink Nadine, Feitz Wout F, Marcelis Carlo, Schumacher Johannes, Martinón-Torres Federico, Hibberd Martin Lloyd, Khor Chiea Chuen, Heilmann-Heimbach Stefanie, Barth Sandra, Boyadjiev Simeon A, Brusco Alfredo, Ludwig Michael, Newman William, Nordenskjöld Agneta, Yamada Gen, Odermatt Benjamin, Reutter Heiko

Abstract excerpt

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...

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Identifiers

PMID: 28176844
DOI: 10.1038/srep42170
PMCID: PMC5296905

Genes

ISL1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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