LRIG2 mutations cause urofacial syndrome
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info:eu-repo/semantics/openAccessTarih
2013Yazar
Stuart, HelenRoberts, Neil
Burgu, Berk
Daly, Sarah
Urquhart, Jill
Bhaskar, Sanjeev
Dickerson, Jonathan
Mermerkaya, Murat
Silay, Mesrur Selcuk
Lewis, Malcolm
Orive Olondriz, Beatriz
Gener, Blanca
Beetz, Christian
Varga, Rita Eva
Gülpnar, Ömer
Süer, Evren
Soygür, Tarkan
Özçakar Birsin, Zeynep
Yalçnkaya, Fatoş
Kavaz, Aslı
Bulum, Burcu
Gücük, Adnan
Yue, Wyatt
Erdogan, Fırat
Berry, Andrew
Hanley, Neil
McKenzie, Edward
Hilton, Emma
Woolf, Adrian
Newman, William
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Stuart, 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.2012.12.002Özet
Urofacial 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.
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American Journal of Human GeneticsCilt
92Sayı
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