ArticleHuman molecular genetics2015
A mouse model of urofacial syndrome with dysfunctional urination.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 44 citations in OpenAlex.
- Review
- Keratin 20 deficiency phenocopies human UAB and drives bladder fibrosis via a mechanotransduction-TGF-β axis.iScience · 2026Article
- Haplotypes affecting stillbirth and fertility in Icelandic Dairy Cattle.Journal of applied genetics · 2025Article
- Heparanase 2 Modulates Vascular Permeability via Heparan Sulfate-Dependent Growth Factor Signaling.Arteriosclerosis, thrombosis, and vascular biology · 2025Article
- Current understanding of heparanase 2 regulation, a non-heparanase.Biochemical Society transactions · 2025Article
- Genetic variability in proteoglycan biosynthetic genes reveals new facets of heparan sulfate diversity.Essays in biochemistry · 2024Review
- HumaneLife · 2024Article
- Heparanase 2 (Hpa2)- a new player essential for pancreatic acinar cell differentiation.Cell death & disease · 2023Article
- Neurogenic Defects Occur inKidney international reports · 2023Article
- Heparanase-A single protein with multiple enzymatic and nonenzymatic functions.Proteoglycan research · 2023Review
- Heparanase-2 protein and peptides have a protective effect on experimental glomerulonephritis and diabetic nephropathy.Frontiers in pharmacology · 2023Article
- Expanding theFrontiers in genetics · 2022Article
- Elucidating the Consequences of Heparan Sulfate Binding by Heparanase 2.Frontiers in oncology · 2020Article
- Developmental pathology of congenital kidney and urinary tract anomalies.Clinical kidney journal · 2019Article
- Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.Kidney international · 2019Article
- Feedback regulation of RTK signaling in development.Developmental biology · 2019Review
- Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies.Frontiers in pediatrics · 2019Review
- Void spot assay: recommendations on the use of a simple micturition assay for mice.American journal of physiology. Renal physiology · 2018Review
- Opposing Functions of Heparanase-1 and Heparanase-2 in Cancer Progression.Trends in biochemical sciences · 2018Review
- Temporally Distinct Six2-Positive Second Heart Field Progenitors Regulate Mammalian Heart Development and Disease.Cell reports · 2017Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
Urofacial syndrome (UFS) is an autosomal recessive disease with severe dysfunctional urination including urinary incontinence (UI). Biallelic mutations of HPSE2 are discovered from UFS patients, suggesting that HPSE2 is a candidate disease gene. Here, we show that deletion of Hpse2 is sufficient to cause the UFS-like phenotype in mice. Hpse2 knockout mutants display a distended bladder (megacystis) phenotype and abnormal voiding behavior similar to that found in patients. While Hpse2 is largely dispensable for detrusor smooth muscle and urothelial cell fate determination, the mutants have significantly lower rates of cell proliferation than wild-type littermate controls. All Hpse2 mutants have a growth retardation phenotype and die within a month after birth. Comprehensive blood chemistry and urinalysis indicate that Hpse2 mutants have renal dysfunction and malnutrition. We provide evidence that transforming growth factor beta (Tgfβ) signaling is attenuated at birth. However, Tgfβ activity is significantly enhanced at later stages when the urological phenotype is severe, and the mutant bladders have accumulated excessive amount of fibrotic tissue. Together, these findings strongly suggest that Hpse2 is a causative gene of human UFS and further uncover unexpected roles of Hpse2 in bladder physiology, tissue remodeling and Tgfβ signaling.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.