ArticleAmerican journal of human genetics2010
Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 100 citations in OpenAlex.
- Heparanase 2 Modulates Vascular Permeability via Heparan Sulfate-Dependent Growth Factor Signaling.Arteriosclerosis, thrombosis, and vascular biology · 2025Article
- The Pathophysiological Functions of Heparanases: From Evolution, Structural and Tissue-Specific Perspectives.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Review
- Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin.Journal of applied genetics · 2025Article
- Current understanding of heparanase 2 regulation, a non-heparanase.Biochemical Society transactions · 2025Article
- Genetic Contributions to Lower Urinary Tract Dysfunction.American journal of medical genetics. Part A · 2025Article
- Tumor- and host-derived heparanase-2 (Hpa2) attenuates tumorigenicity: role of Hpa2 in macrophage polarization and BRD7 nuclear localization.Cell death & disease · 2024Article
- Genetic variability in proteoglycan biosynthetic genes reveals new facets of heparan sulfate diversity.Essays in biochemistry · 2024Review
- Exome Sequencing Identified Susceptible Genes for High Residual Risks in Early-Onset Coronary Atherosclerotic Disease.Clinical cardiology · 2024Observational
- HumaneLife · 2024Article
- Nuclear localization of heparanase 2 (Hpa2) attenuates breast carcinoma growth and metastasis.Cell death & disease · 2024Article
- Heparanase-A single protein with multiple enzymatic and nonenzymatic functions.Proteoglycan research · 2023Review
- Effect of HPSE and HPSE2 SNPs on the Risk of Developing Primary Paraskeletal Multiple Myeloma.Cells · 2023Article
- New Insights on Metabolic and Genetic Basis of Migraine: Novel Impact on Management and Therapeutical Approach.International journal of molecular sciences · 2022Review
- Expanding theFrontiers in genetics · 2022Article
- Hypermethylation of heparanase 2 promotes colorectal cancer proliferation and is associated with poor prognosis.Journal of translational medicine · 2021Article
- Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.Kidney international reports · 2020Article
- Association of Genetic Variants With Migraine Subclassified by Clinical Symptoms in Adult Females.Frontiers in neurology · 2020Article
- Elucidating the Consequences of Heparan Sulfate Binding by Heparanase 2.Frontiers in oncology · 2020Article
- A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.Clinical genetics · 2019Article
- Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.Kidney international · 2019Article
Corrections and comments
- Erratum issuedFisher, Richard B [added]
Authors and funding
15 authors at 6 institutions in 5 countries.
Funding
Abstract
Previously, we localized the defective gene for the urofacial syndrome (UFS) to a region on chromosome 10q24 by homozygosity mapping. We now report evidence that Heparanse 2 (HPSE2) is the culprit gene for the syndrome. Mutations with a loss of function in the Heparanase 2 (HPSE2) gene were identified in all UFS patients originating from Colombia, the United States, and France. HPSE2 encodes a 592 aa protein that contains a domain showing sequence homology to the glycosyl hydrolase motif in the heparanase (HPSE) gene, but its exact biological function has not yet been characterized. Complete loss of HPSE2 function in UFS patients suggests that HPSE2 may be important for the synergic action of muscles implicated in facial expression and urine voiding.
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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.