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Urinary Tract Effects of HPSE2 Mutations

2015-04Journal article Open access
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dc.contributor.authorStuart, H
dc.contributor.authorRoberts, N
dc.contributor.authorHilton, E
dc.contributor.authorMcKenzie, E
dc.contributor.authorDaly, S
dc.contributor.authorHadfield, K
dc.contributor.authorRahal, J
dc.contributor.authorGardiner, N
dc.contributor.authorTanley, S
dc.contributor.authorLewis, M
dc.contributor.authorSites, E
dc.contributor.authorAngle, B
dc.contributor.authorAlves, C
dc.contributor.authorLourenço, T
dc.contributor.authorRodrigues, M
dc.contributor.authorCalado, A
dc.contributor.authorAmado, M
dc.contributor.authorGuerreiro, N
dc.contributor.authorSerras, I
dc.contributor.authorBeetz, C
dc.contributor.authorVarga, R
dc.contributor.authorSilay, M
dc.contributor.authorDarlow, J
dc.contributor.authorDobson, M
dc.contributor.authorBarton, D
dc.contributor.authorHunziker, M
dc.contributor.authorPuri, P
dc.contributor.authorFeather, S
dc.contributor.authorGoodship, J
dc.contributor.authorGoodship, T
dc.contributor.authorLambert, H
dc.contributor.authorCordell, H
dc.contributor.authorSaggar, A
dc.contributor.authorKinali, M
dc.contributor.authorLorenz, C
dc.contributor.authorMoeller, K
dc.contributor.authorSchaefer, F
dc.contributor.authorBayazit, A
dc.contributor.authorWeber, S
dc.contributor.authorNewman, W
dc.contributor.authorWoolf, A
dc.date.accessioned2016-05-24T14:14:29Z
dc.date.available2016-05-24T14:14:29Z
dc.date.issued2015-04
dc.description.abstractUrofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited. Here, seven UFS kindreds with HPSE2 mutations are presented, including one with deleted asparagine 254, suggesting a role for this amino acid, which is conserved in vertebrate orthologs. HPSE2 mutations were absent in 23 non-neurogenic neurogenic bladder probands and, of 439 families with nonsyndromic vesicoureteric reflux, only one carried a putative pathogenic HPSE2 variant. Homozygous Hpse2 mutant mouse bladders contained urine more often than did wild-type organs, phenocopying human UFS. Pelvic ganglia neural cell bodies contained heparanase 1, heparanase 2, and leucine-rich repeats and immunoglobulin-like domains-2 (LRIG2), which is mutated in certain UFS families. In conclusion, heparanase 2 is an autonomic neural protein implicated in bladder emptying, but HPSE2 variants are uncommon in urinary diseases resembling UFS.pt_PT
dc.identifier.citationJ Am Soc Nephrol. 2015 Apr;26(4):797-804pt_PT
dc.identifier.doi10.1681/ASN.2013090961pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2500
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherAmerican Society of Nephrologypt_PT
dc.subjectAnimalspt_PT
dc.subjectFaciespt_PT
dc.subjectFemalept_PT
dc.subjectGlucuronidasept_PT
dc.subjectHumanspt_PT
dc.subjectMalept_PT
dc.subjectMicept_PT
dc.subjectMice, Inbred C57BLpt_PT
dc.subjectMutationpt_PT
dc.subjectUrinary Tractpt_PT
dc.subjectUrologic Diseasespt_PT
dc.subjectHDE GENpt_PT
dc.titleUrinary Tract Effects of HPSE2 Mutationspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage804pt_PT
oaire.citation.issue4pt_PT
oaire.citation.startPage797pt_PT
oaire.citation.titleJournal of the American Society of Nephrology : JASNpt_PT
oaire.citation.volume26pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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