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Inflammation-like changes in the urothelium of Lifr-deficient mice and LIFR-haploinsufficient humans with urinary tract anomalies.

Human molecular genetics - 8 May 2020

Christians Anne, Weiss Anna-Carina, Martens Helge, Klopf Maximilian Georg, Hennies Imke, Haffner Dieter, Kispert Andreas, Weber Ruthild G

Abstract excerpt

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of end-stage kidney disease in children. While the genetic aberrations underlying CAKUT pathogenesis are increasingly being elucidated, their consequences on a cellular and molecular level commonly remain unclear. Recently, we reported rare heterozygous deleterious LIFR variants in 3.3% of CAKUT patients, including a novel de...

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PMID: 32179912
DOI: 10.1093/hmg/ddaa048

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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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