LRIG2 mutations cause urofacial syndrome

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dc.authorid0000-0003-2569-235Xen_US
dc.authorid0000-0001-7858-0672
dc.contributor.authorStuart, Helen M.
dc.contributor.authorRoberts, Neil A.
dc.contributor.authorBurgu, Berk
dc.contributor.authorDaly, Sarah B.
dc.contributor.authorUrquhart, Jill E.
dc.contributor.authorGücük, Adnan
dc.date.accessioned2021-06-23T19:34:48Z
dc.date.available2021-06-23T19:34:48Z
dc.date.issued2013
dc.departmentBAİBÜ, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümüen_US
dc.description.abstractUrofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and an abnormal facial expression upon smiling, laughing, and crying. We report that a subset of UFS-affected individuals have biallelic mutations in LRIG2, encoding leucine-rich repeats and immunoglobulin-like domains 2, a protein implicated in neural cell signaling and tumorigenesis. Importantly, we have demonstrated that rare variants in LRIG2 might be relevant to nonsyndromic bladder disease. We have previously shown that UFS is also caused by mutations in HPSE2, encoding heparanase-2. LRIG2 and heparanase-2 were immunodetected in nerve fascicles growing between muscle bundles within the human fetal bladder, directly implicating both molecules in neural development in the lower urinary tract.en_US
dc.identifier.doi10.1016/j.ajhg.2012.12.002
dc.identifier.endpage264en_US
dc.identifier.issn0002-9297
dc.identifier.issue2en_US
dc.identifier.pmid23313374en_US
dc.identifier.scopus2-s2.0-84873735633en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage259en_US
dc.identifier.urihttps://doi.org/10.1016/j.ajhg.2012.12.002
dc.identifier.urihttps://hdl.handle.net/20.500.12491/7630
dc.identifier.volume92en_US
dc.identifier.wosWOS:000315179600010en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorGücük, Adnan
dc.language.isoenen_US
dc.publisherCell Pressen_US
dc.relation.ispartofAmerican Journal Of Human Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleLRIG2 mutations cause urofacial syndromeen_US
dc.typeArticleen_US

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