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Bannayan–Riley–Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation

2007; Wiley; Volume: 146A; Issue: 2 Linguagem: Inglês

10.1002/ajmg.a.32086

ISSN

1552-4833

Autores

Loredana Boccone, Valentina Dessì, Gigliola Serra, Federica Zibordi, Georgios Loudianos,

Tópico(s)

Coagulation, Bradykinin, Polyphosphates, and Angioedema

Resumo

American Journal of Medical Genetics Part AVolume 146A, Issue 2 p. 257-260 Research Letter Bannayan–Riley–Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation† Loredana Boccone, Corresponding Author Loredana Boccone [email protected] Ospedale Regionale Microcitemie, ASL 8, Cagliari, ItalyOspedale Regionale Microcitemie, ASL 8, Cagliari, Via Jenner s/n, 09121 Cagliari, Sardinia, Italy.Search for more papers by this authorValentina Dessì, Valentina Dessì Dipartimento di Scienze Biomediche e Biotecnologie, USC, Cagliari, ItalySearch for more papers by this authorGigliola Serra, Gigliola Serra Istituto di Neuropsichiatria Infantile, Università di Sassari, Sassari, ItalySearch for more papers by this authorFederica Zibordi, Federica Zibordi Divisione Neuropsichiatria Infantile, Istituto Nazionale Neurologico Besta, Milano, ItalySearch for more papers by this authorGeorgios Loudianos, Corresponding Author Georgios Loudianos [email protected] Ospedale Regionale Microcitemie, ASL 8, Cagliari, ItalyOspedale Regionale Microcitemie, ASL 8, Cagliari, Via Jenner s/n, 09121 Cagliari, Sardinia, Italy.Search for more papers by this author Loredana Boccone, Corresponding Author Loredana Boccone [email protected] Ospedale Regionale Microcitemie, ASL 8, Cagliari, ItalyOspedale Regionale Microcitemie, ASL 8, Cagliari, Via Jenner s/n, 09121 Cagliari, Sardinia, Italy.Search for more papers by this authorValentina Dessì, Valentina Dessì Dipartimento di Scienze Biomediche e Biotecnologie, USC, Cagliari, ItalySearch for more papers by this authorGigliola Serra, Gigliola Serra Istituto di Neuropsichiatria Infantile, Università di Sassari, Sassari, ItalySearch for more papers by this authorFederica Zibordi, Federica Zibordi Divisione Neuropsichiatria Infantile, Istituto Nazionale Neurologico Besta, Milano, ItalySearch for more papers by this authorGeorgios Loudianos, Corresponding Author Georgios Loudianos [email protected] Ospedale Regionale Microcitemie, ASL 8, Cagliari, ItalyOspedale Regionale Microcitemie, ASL 8, Cagliari, Via Jenner s/n, 09121 Cagliari, Sardinia, Italy.Search for more papers by this author First published: 13 December 2007 https://doi.org/10.1002/ajmg.a.32086Citations: 11 † How to cite this article: Boccone L, Dessì V, Serra G, Zibordi F, Loudianos G. 2007. Bannayan–Riley–Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. Am J Med Genet Part A 146A:257–260. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Agrawal S, Pilarski R, Eng C. 2005. Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN. Hum Mol Genet 14: 2459–2468. Beck R, Zur Linden B, Stave J. 2001. Effect of intraocular lens design of posterior capsule opacification: An in vitro model. Klin Monatsbl Augenheilkd 218: 111–115. Boccone L, Dessì V, Zappu A, Piga S, Piludu MB, Rais M, Massida C, De Virgiliis S, Cao A, Loudianos G. 2006. Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. Am J Med Genet Part A 140A: 1965–1969. Di Liberti JH. 1998. Inherited macrocephaly-hamartoma Syndromes. Am J Med Genet 79: 284–290. Eng C. 2000. Will the real Cowden syndrome please stand up: Revised diagnostic criteria. J Med Genet 37: 828–830. Eng C. 2003. PTEN: One gene, many syndromes. Hum Mut 22: 183–198. Gorlin RJ, Cohen MM Jr, Condon LM, Burke BA. 1992. Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 44: 307–314. Jiang Q, Zhou C, Bi Z, Wan Y. 2006. EGF-induced cell migration is mediated by ERK and PI3K/AKT pathways in cultured human lens epithelial cells. J Ocul Pharmacol Ther 22: 93–102. Lloyd KM, Dennis M. 1963. 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PTEN inhibits insulin-stimulated MEK/MAPK activation and cell growth by blocking IRS-1 phosphorylation and IRS-1/Grb-2/Sos complex formation in a brest cancer model. Hum Mol Genet 10: 605–616. Citing Literature Volume146A, Issue215 January 2008Pages 257-260 ReferencesRelatedInformation

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