Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.

doi:10.1016/j.ajhg.2015.07.001

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Article

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.

American journal of human genetics - 6 Aug 2015

Vivante Asaf, Kleppa Marc-Jens, Schulz Julian, Kohl Stefan, Sharma Amita, Chen Jing, Shril Shirlee, Hwang Daw-Yang, Weiss Anna-Carina, Kaminski Michael M, Shukrun Rachel, Kemper Markus J, Lehnhardt Anja, Beetz Rolf, Sanna-Cherchi Simone, Verbitsky Miguel, Gharavi Ali G, Stuart Helen M, Feather Sally A, Goodship Judith A, Goodship Timothy H J, Woolf Adrian S, Westra Sjirk J, Doody Daniel P, Bauer Stuart B, Lee Richard S, Adam Rosalyn M, Lu Weining, Reutter Heiko M, Kehinde Elijah O, Mancini Erika J, Lifton Richard P, Tasic Velibor, Lienkamp Soeren S, Jüppner Harald, Kispert Andreas, Hildebrandt Friedhelm

Abstract excerpt

Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in the first three decades of life. Identification of single-gene mutations that cause CAKUT permits the first insights into related disease mechanisms. However, for most cases the underlying defect remains elusive. We identified a kindred with an autosomal-dominant form of CAKUT with predominant...

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Identifiers

PMID: 26235987
DOI: 10.1016/j.ajhg.2015.07.001
PMCID: PMC4862256

Genes

TBX18

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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