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Article

Rescue of defective branching nephrogenesis in renal-coloboma syndrome by the caspase inhibitor, Z-VAD-fmk.

Journal of the American Society of Nephrology : JASN - 1 Feb 2004

Clark Patsy, Dziarmaga Alison, Eccles Michael, Goodyer Paul

Abstract excerpt

In renal-coloboma syndrome (RCS), null mutations of the PAX2 gene cause renal hypoplasia due to a congenital deficit of nephrons; affected individuals may develop renal insufficiency in childhood. During normal kidney development, PAX2, is expressed at high levels throughout the arborizing ureter...

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Source

Identifiers

PMID: 14747376
DOI: 10.1097/01.asn.0000111248.23454.19

Genes

PAX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14747376-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Rescue of defective branching nephrogenesis in renal-coloboma syndrome by the caspase inhibitor, Z-VAD-fmk.PMID 14747376Read ↗

Ureteric Bud Apoptosis and Renal Hypoplasia in Transgenic PAX2-Bax Fetal Mice Mimics the Renal-Coloboma SyndromeSemantic proximity Read ↗

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Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.Semantic proximity Read ↗

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