{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T01:08:48Z","timestamp":1769044128580,"version":"3.49.0"},"reference-count":25,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,4]]},"DOI":"10.1681\/asn.2013090961","type":"journal-article","created":{"date-parts":[[2014,8,22]],"date-time":"2014-08-22T02:35:36Z","timestamp":1408674936000},"page":"797-804","source":"Crossref","is-referenced-by-count":39,"title":["Urinary Tract Effects of HPSE2 Mutations"],"prefix":"10.1681","volume":"26","author":[{"given":"Helen M.","family":"Stuart","sequence":"first","affiliation":[]},{"given":"Neil A.","family":"Roberts","sequence":"additional","affiliation":[]},{"given":"Emma N.","family":"Hilton","sequence":"additional","affiliation":[]},{"given":"Edward A.","family":"McKenzie","sequence":"additional","affiliation":[]},{"given":"Sarah B.","family":"Daly","sequence":"additional","affiliation":[]},{"given":"Kristen D.","family":"Hadfield","sequence":"additional","affiliation":[]},{"given":"Jeffery S.","family":"Rahal","sequence":"additional","affiliation":[]},{"given":"Natalie J.","family":"Gardiner","sequence":"additional","affiliation":[]},{"given":"Simon W.","family":"Tanley","sequence":"additional","affiliation":[]},{"given":"Malcolm A.","family":"Lewis","sequence":"additional","affiliation":[]},{"given":"Emily","family":"Sites","sequence":"additional","affiliation":[]},{"given":"Brad","family":"Angle","sequence":"additional","affiliation":[]},{"given":"Cl\u00e1udia","family":"Alves","sequence":"additional","affiliation":[]},{"given":"Teresa","family":"Louren\u00e7o","sequence":"additional","affiliation":[]},{"given":"M\u00e1rcia","family":"Rodrigues","sequence":"additional","affiliation":[]},{"given":"Angelina","family":"Calado","sequence":"additional","affiliation":[]},{"given":"Marta","family":"Amado","sequence":"additional","affiliation":[]},{"given":"Nancy","family":"Guerreiro","sequence":"additional","affiliation":[]},{"given":"In\u00eas","family":"Serras","sequence":"additional","affiliation":[]},{"given":"Christian","family":"Beetz","sequence":"additional","affiliation":[]},{"given":"Rita-Eva","family":"Varga","sequence":"additional","affiliation":[]},{"given":"Mesrur Selcuk","family":"Silay","sequence":"additional","affiliation":[]},{"given":"John M.","family":"Darlow","sequence":"additional","affiliation":[]},{"given":"Mark G.","family":"Dobson","sequence":"additional","affiliation":[]},{"given":"David E.","family":"Barton","sequence":"additional","affiliation":[]},{"given":"Manuela","family":"Hunziker","sequence":"additional","affiliation":[]},{"given":"Prem","family":"Puri","sequence":"additional","affiliation":[]},{"given":"Sally A.","family":"Feather","sequence":"additional","affiliation":[]},{"given":"Judith A.","family":"Goodship","sequence":"additional","affiliation":[]},{"given":"Timothy H.J.","family":"Goodship","sequence":"additional","affiliation":[]},{"given":"Heather J.","family":"Lambert","sequence":"additional","affiliation":[]},{"given":"Heather J.","family":"Cordell","sequence":"additional","affiliation":[]},{"given":"Anand","family":"Saggar","sequence":"additional","affiliation":[]},{"given":"Maria","family":"Kinali","sequence":"additional","affiliation":[]},{"given":"Christian","family":"Lorenz","sequence":"additional","affiliation":[]},{"given":"Kristina","family":"Moeller","sequence":"additional","affiliation":[]},{"given":"Franz","family":"Schaefer","sequence":"additional","affiliation":[]},{"given":"Aysun K.","family":"Bayazit","sequence":"additional","affiliation":[]},{"given":"Stefanie","family":"Weber","sequence":"additional","affiliation":[]},{"given":"William G.","family":"Newman","sequence":"additional","affiliation":[]},{"given":"Adrian S.","family":"Woolf","sequence":"additional","affiliation":[]}],"member":"276","reference":[{"key":"R2-9-20230208","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1007\/s00467-003-1291-1","article-title":"Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated.","volume":"19","author":"Ochoa","year":"2004","journal-title":"Pediatr Nephrol"},{"key":"R4-9-20230208","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1016\/j.ajhg.2010.05.006","article-title":"Mutations in HPSE2 cause urofacial syndrome.","volume":"86","author":"Daly","year":"2010","journal-title":"Am J Hum Genet"},{"key":"R5-9-20230208","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1016\/j.ajhg.2010.04.016","article-title":"Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.","volume":"86","author":"Pang","year":"2010","journal-title":"Am J Hum Genet"},{"key":"R6-9-20230208","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/j.jpurol.2011.02.034","article-title":"Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.","volume":"7","author":"Al Badr","year":"2011","journal-title":"J Pediatr Urol"},{"key":"R7-9-20230208","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1111\/j.1399-0004.2011.01649.x","article-title":"First HPSE2 missense mutation in urofacial syndrome.","volume":"81","author":"Mahmood","year":"2012","journal-title":"Clin Genet"},{"key":"R8-9-20230208","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1006\/bbrc.2000.3586","article-title":"Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member.","volume":"276","author":"McKenzie","year":"2000","journal-title":"Biochem Biophys Res Commun"},{"key":"R9-9-20230208","doi-asserted-by":"crossref","first-page":"28010","DOI":"10.1074\/jbc.M110.116384","article-title":"Heparanase 2 interacts with heparan sulfate with high affinity and inhibits heparanase activity.","volume":"285","author":"Levy-Adam","year":"2010","journal-title":"J Biol Chem"},{"key":"R10-9-20230208","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.tibs.2009.06.005","article-title":"Heparanase: Busy at the cell surface.","volume":"34","author":"Fux","year":"2009","journal-title":"Trends Biochem Sci"},{"key":"R11-9-20230208","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/sj.bjp.0707182","article-title":"Heparanase: A target for drug discovery in cancer and inflammation.","volume":"151","author":"McKenzie","year":"2007","journal-title":"Br J Pharmacol"},{"key":"R13-9-20230208","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1016\/j.sbi.2011.08.005","article-title":"Mechanisms and principles of N-linked protein glycosylation.","volume":"21","author":"Schwarz","year":"2011","journal-title":"Curr Opin Struct Biol"},{"key":"R14-9-20230208","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.ajhg.2012.12.002","article-title":"LRIG2 mutations cause urofacial syndrome.","volume":"92","author":"Stuart","year":"2013","journal-title":"Am J Hum Genet"},{"key":"R15-9-20230208","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1016\/j.urology.2011.08.018","article-title":"Twelve-year experience with Hinman-Allen syndrome at a single center.","volume":"78","author":"Silay","year":"2011","journal-title":"Urology"},{"key":"R16-9-20230208","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1681\/ASN.2009060624","article-title":"Malcolm S, Feather SA, Goodship THJ, Woolf AS, Kenda RB, Goodship JA. Whole-genome linkage and association scan in primary, non-syndromic vesicoureteric reflux.","volume":"21","author":"Cordell","year":"2010","journal-title":"J Am Soc Nephrol"},{"key":"R17-9-20230208","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/mgg3.22","article-title":"A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development.","volume":"2","author":"Darlow","year":"2014","journal-title":"Mol Genet Genomic Med"},{"key":"R18-9-20230208","first-page":"507","article-title":"More than meets the smile: facial muscle expression in children with Ochoa syndrome.","volume":"66","author":"Ganesan","year":"2011","journal-title":"Med J Malaysia"},{"key":"R19-9-20230208","doi-asserted-by":"crossref","first-page":"130","DOI":"10.3389\/fnins.2012.00130","article-title":"A genome-wide screen to identify transcription factors expressed in pelvic ganglia of the lower urinary tract.","volume":"6","author":"Wiese","year":"2012","journal-title":"Front Neurosci"},{"key":"R20-9-20230208","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1212\/WNL.0b013e3181fdabba","article-title":"Neural control of the bladder: Recent advances and neurologic implications.","volume":"75","author":"Benarroch","year":"2010","journal-title":"Neurology"},{"key":"R21-9-20230208","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/S0022-5347(05)65473-0","article-title":"Smooth muscle differentiation and cell turnover in mouse detrusor development.","volume":"167","author":"Smeulders","year":"2002","journal-title":"J Urol"},{"key":"R23-9-20230208","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1042\/BJ20110167","article-title":"Heparanase enhances nerve-growth-factor-induced PC12 cell neuritogenesis via the p38 MAPK pathway.","volume":"440","author":"Cui","year":"2011","journal-title":"Biochem J"},{"key":"R24-9-20230208","doi-asserted-by":"crossref","first-page":"e73635","DOI":"10.1371\/journal.pone.0073635","article-title":"Lrig2-deficient mice are protected against PDGFB-induced glioma.","volume":"8","author":"Rondahl","year":"2013","journal-title":"PLoS ONE"},{"key":"R25-9-20230208","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1016\/j.ajhg.2011.10.007","article-title":"Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune -belly-like syndrome.","volume":"89","author":"Weber","year":"2011","journal-title":"Am J Hum Genet"},{"key":"R26-9-20230208","doi-asserted-by":"crossref","first-page":"F197","DOI":"10.1152\/ajprenal.00001.2006","article-title":"Structural and functional characterization of bladder smooth muscle in fetal rats with retinoic acid-induced myelomeningocele.","volume":"292","author":"Danzer","year":"2007","journal-title":"Am J Physiol Renal Physiol"},{"key":"R27-9-20230208","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1002\/dvdy.21391","article-title":"Transcriptional profiling of the megabladder mouse: A unique model of bladder dysmorphogenesis.","volume":"237","author":"Singh","year":"2008","journal-title":"Dev Dyn"},{"key":"R28-9-20230208","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1136\/jmg.40.3.220","article-title":"Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay.","volume":"40","author":"Baralle","year":"2003","journal-title":"J Med Genet"},{"key":"R29-9-20230208","doi-asserted-by":"crossref","first-page":"5916","DOI":"10.1074\/jbc.M511982200","article-title":"Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality.","volume":"281","author":"DeRossi","year":"2006","journal-title":"J Biol Chem"}],"container-title":["Journal of the American Society of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/00001751-201504000-00009","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,8]],"date-time":"2023-02-08T20:46:11Z","timestamp":1675889171000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00001751-201504000-00009"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4]]},"references-count":25,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015]]}},"URL":"https:\/\/doi.org\/10.1681\/asn.2013090961","relation":{},"ISSN":["1046-6673"],"issn-type":[{"value":"1046-6673","type":"print"}],"subject":[],"published":{"date-parts":[[2015,4]]}}}