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LRIG2 Mutations Cause Urofacial Syndrome

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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.authorBhaskar, Sanjeev
dc.contributor.authorDickerson, Jonathan E.
dc.contributor.authorMermerkaya, Murat
dc.contributor.authorSilay, Mesrur Selcuk
dc.contributor.authorLewis, Malcolm A.
dc.contributor.authorOrive Olondriz, M. Beatriz
dc.contributor.authorGener, Blanca
dc.contributor.authorBeetz, Christian
dc.contributor.authorVarga, Rita E.
dc.contributor.authorGÜLPINAR, ÖMER
dc.contributor.authorSÜER, EVREN
dc.contributor.authorSoygur, Tarkan
dc.contributor.authorÖZÇAKAR, ZEYNEP BİRSİN
dc.contributor.authorYalcinkaya, Fatos
dc.contributor.authorKavaz, Asli
dc.contributor.authorBULUM AKBULUT, Burcu
dc.contributor.authorGÜCÜK, ADNAN
dc.contributor.authorYue, Wyatt W.
dc.contributor.authorErdogan, Firat
dc.contributor.authorBerry, Andrew
dc.contributor.authorHanley, Neil A.
dc.contributor.authorMcKenzie, Edward A.
dc.contributor.authorHilton, Emma N.
dc.contributor.authorWoolf, Adrian S.
dc.contributor.authorNewman, William G.
dc.date.accessioned2020-10-22T18:57:37Z
dc.date.available2020-10-22T18:57:37Z
dc.date.issued2013-02-01T00:00:00Z
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. M. , Roberts N. A. , BURGU B., Daly S. B. , Urquhart J. E. , Bhaskar S., Dickerson J. E. , Mermerkaya M., Silay M. S. , Lewis M. A. , et al., -LRIG2 Mutations Cause Urofacial Syndrome-, AMERICAN JOURNAL OF HUMAN GENETICS, cilt.92, ss.259-264, 2013
dc.identifier.doi10.1016/j.ajhg.2012.12.002
dc.identifier.pubmed
dc.identifier.scopus84873735633
dc.identifier.urihttp://hdl.handle.net/20.500.12645/24385
dc.identifier.urihttps://www.sciencedirect.com/science/article/pii/S0002929712006362?via%3Dihub
dc.identifier.wosWOS:000315179600010
dc.subjectLRIG2 Mutations
dc.titleLRIG2 Mutations Cause Urofacial Syndrome
dc.typeArticle
dspace.entity.typePublication
local.avesis.ida8e89951-4a16-4f53-9bb8-28021a9c1b07
local.publication.goal03 - Sağlık ve Kaliteli Yaşam
local.publication.isinternational1
relation.isGoalOfPublication9c198c48-b603-4e2f-8366-04edcfc1224c
relation.isGoalOfPublication.latestForDiscovery9c198c48-b603-4e2f-8366-04edcfc1224c
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