Publication:
Urinary Tract Effects of HPSE2 Mutations

dc.contributor.authorStuart, Helen M.
dc.contributor.authorRoberts, Neil A.
dc.contributor.authorHilton, Emma N.
dc.contributor.authorMcKenzie, Edward A.
dc.contributor.authorDaly, Sarah B.
dc.contributor.authorHadfield, Kristen D.
dc.contributor.authorRahal, Jeffery S.
dc.contributor.authorGardiner, Natalie J.
dc.contributor.authorTanley, Simon W.
dc.contributor.authorLewis, Malcolm A.
dc.contributor.authorSites, Emily
dc.contributor.authorAngle, Brad
dc.contributor.authorAlves, Claudia
dc.contributor.authorLourenco, Teresa
dc.contributor.authorRodrigues, Marcia
dc.contributor.authorCalado, Angelina
dc.contributor.authorAmado, Marta
dc.contributor.authorGuerreiro, Nancy
dc.contributor.authorSerras, Ines
dc.contributor.authorBeetz, Christian
dc.contributor.authorVarga, Rita-Eva
dc.contributor.authorSilay, Mesrur Selcuk
dc.contributor.authorDarlow, John M.
dc.contributor.authorDobson, Mark G.
dc.contributor.authorBarton, David E.
dc.contributor.authorHunziker, Manuela
dc.contributor.authorPuri, Prem
dc.contributor.authorFeather, Sally A.
dc.contributor.authorGoodship, Judith A.
dc.contributor.authorGoodship, Timothy H. J.
dc.contributor.authorLambert, Heather J.
dc.contributor.authorCordell, Heather J.
dc.contributor.authorSaggar, Anand
dc.contributor.authorKinali, Maria
dc.contributor.authorLorenz, Christian
dc.contributor.authorMoeller, Kristina
dc.contributor.authorSchaefer, Franz
dc.contributor.authorKARABAY BAYAZIT, AYSUN
dc.contributor.authorWeber, Stefanie
dc.contributor.authorNewman, William G.
dc.contributor.authorWoolf, Adrian S.
dc.date.accessioned2020-10-22T21:35:50Z
dc.date.available2020-10-22T21:35:50Z
dc.date.issued2015-04-01T00:00:00Z
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.
dc.identifier.citationStuart H. M. , Roberts N. A. , Hilton E. N. , McKenzie E. A. , Daly S. B. , Hadfield K. D. , Rahal J. S. , Gardiner N. J. , Tanley S. W. , Lewis M. A. , et al., -Urinary Tract Effects of HPSE2 Mutations-, JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, cilt.26, ss.797-804, 2015
dc.identifier.doi10.1681/asn.2013090961
dc.identifier.pubmed25145936
dc.identifier.scopus84926434689
dc.identifier.urihttp://hdl.handle.net/20.500.12645/24856
dc.identifier.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378092/
dc.identifier.wosWOS:000352048700008
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectGenetics and development
dc.subjectHuman geneticsen
dc.subjectMolecular geneticsen
dc.subjectPediatric nephrologyen
dc.titleUrinary Tract Effects of HPSE2 Mutations
dc.typeArticle
dspace.entity.typePublication
local.avesis.idef45ec7a-e426-4e65-aa95-7f726aa880da
local.publication.goal03 - Sağlık ve Kaliteli Yaşam
local.publication.isinternational1
relation.isGoalOfPublication9c198c48-b603-4e2f-8366-04edcfc1224c
relation.isGoalOfPublication.latestForDiscovery9c198c48-b603-4e2f-8366-04edcfc1224c
Files
Original bundle
Now showing 1 - 1 of 1
Loading...
Thumbnail Image
Name:
Urinary tract effects of HPSE2 mutations.pdf
Size:
1.95 MB
Format:
Adobe Portable Document Format
Description: