LRIG2 mutations cause urofacial syndrome

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dc.authorid0000-0002-6299-7067
dc.contributor.authorStuart, Helen
dc.contributor.authorRoberts, Neil
dc.contributor.authorBurgu, Berk
dc.contributor.authorDaly, Sarah
dc.contributor.authorUrquhart, Jill
dc.contributor.authorBhaskar, Sanjeev
dc.contributor.authorDickerson, Jonathan
dc.contributor.authorMermerkaya, Murat
dc.contributor.authorSilay, Mesrur Selcuk
dc.contributor.authorLewis, Malcolm
dc.contributor.authorOrive Olondriz, Beatriz
dc.contributor.authorGener, Blanca
dc.contributor.authorBeetz, Christian
dc.contributor.authorVarga, Rita Eva
dc.contributor.authorGülpnar, Ömer
dc.contributor.authorSüer, Evren
dc.contributor.authorSoygür, Tarkan
dc.contributor.authorÖzçakar Birsin, Zeynep
dc.contributor.authorYalçnkaya, Fatoş
dc.contributor.authorKavaz, Aslı
dc.contributor.authorBulum, Burcu
dc.contributor.authorGücük, Adnan
dc.contributor.authorYue, Wyatt
dc.contributor.authorErdogan, Fırat
dc.contributor.authorBerry, Andrew
dc.contributor.authorHanley, Neil
dc.contributor.authorMcKenzie, Edward
dc.contributor.authorHilton, Emma
dc.contributor.authorWoolf, Adrian
dc.contributor.authorNewman, William
dc.date.accessioned10.07.201910:49:13
dc.date.accessioned2019-07-10T19:35:23Z
dc.date.available10.07.201910:49:14
dc.date.available2019-07-10T19:35:23Z
dc.date.issued2013
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
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.
dc.identifier.citationStuart, H., Roberts, N., Burgu, B., Daly, S.,Urquhart, J., Bhaskar, S. ... Newman, W. (2013). LRIG2 mutations cause urofacial syndrome. American Journal of Human Genetics, 92(2), 259-264. https://dx.doi.org/10.1016/j.ajhg.2012.12.002
dc.identifier.doi10.1016/j.ajhg.2012.12.002
dc.identifier.endpage264
dc.identifier.issn0002-9297
dc.identifier.issue2
dc.identifier.scopusqualityQ1
dc.identifier.startpage259
dc.identifier.urihttps://hdl.handle.net/20.500.12511/751
dc.identifier.urihttps://dx.doi.org/10.1016/j.ajhg.2012.12.002
dc.identifier.volume92
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.relation.ispartofAmerican Journal of Human Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectUrofacial Syndrome (UFS)
dc.subjectMutations
dc.subjectLRIG2
dc.titleLRIG2 mutations cause urofacial syndrome
dc.typeArticle

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