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Article

Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.

Human molecular genetics - 15 Aug 2014

Roberts Neil A, Woolf Adrian S, Stuart Helen M, Thuret Raphaël, McKenzie Edward A, Newman William G, Hilton Emma N

Abstract excerpt

Urofacial syndrome (UFS; previously Ochoa syndrome) is an autosomal recessive disease characterized by incomplete bladder emptying during micturition. This is associated with a dyssynergia in which the urethral walls contract at the same time as the detrusor smooth muscle in the body of the bladder. UFS is also characterized by an abnormal facial expression upon smiling, and bilateral weakness in the distribution...

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Source

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Identifiers

PMID: 24691552
DOI: 10.1093/hmg/ddu147
PMCID: PMC4103677

Genes

HPSE2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.PMID 24691552Read ↗

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Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.Semantic proximity Read ↗

Mutations in HPSE2 cause urofacial syndrome.Semantic proximity Read ↗

Human <i>HPSE2</i> gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndromeSemantic proximity Read ↗

Urinary tract effects of HPSE2 mutations.Semantic proximity Read ↗

Dysfunctional bladder neurophysiology in urofacial syndrome Hpse2 mutant mice.Semantic proximity Read ↗

Clinical and genetic characteristics for the Urofacial Syndrome (UFS).Semantic proximity Read ↗

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