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Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
Miano MG, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millán JM, De Bernardo C, Grammatico B, Mangino M, Torrente I, Carrozzo R, Simonelli F, Rinaldi E, Ventruto V, D'Urso M, Ayuso C, Ciccodicola A. Miano MG, et al. Among authors: conte i. Hum Mutat. 2001 Aug;18(2):109-19. doi: 10.1002/humu.1160. Hum Mutat. 2001. PMID: 11462235
miR-204 is required for lens and retinal development via Meis2 targeting.
Conte I, Carrella S, Avellino R, Karali M, Marco-Ferreres R, Bovolenta P, Banfi S. Conte I, et al. Proc Natl Acad Sci U S A. 2010 Aug 31;107(35):15491-6. doi: 10.1073/pnas.0914785107. Epub 2010 Aug 16. Proc Natl Acad Sci U S A. 2010. PMID: 20713703 Free PMC article.
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.
Peluso I, Conte I, Testa F, Dharmalingam G, Pizzo M, Collin RW, Meola N, Barbato S, Mutarelli M, Ziviello C, Barbarulo AM, Nigro V, Melone MA; European Retinal Disease Consortium; Simonelli F, Banfi S. Peluso I, et al. Among authors: conte i. Orphanet J Rare Dis. 2013 Jan 28;8:16. doi: 10.1186/1750-1172-8-16. Orphanet J Rare Dis. 2013. PMID: 23356391 Free PMC article.
Pax6 regulates gene expression in the vertebrate lens through miR-204.
Shaham O, Gueta K, Mor E, Oren-Giladi P, Grinberg D, Xie Q, Cvekl A, Shomron N, Davis N, Keydar-Prizant M, Raviv S, Pasmanik-Chor M, Bell RE, Levy C, Avellino R, Banfi S, Conte I, Ashery-Padan R. Shaham O, et al. Among authors: conte i. PLoS Genet. 2013;9(3):e1003357. doi: 10.1371/journal.pgen.1003357. Epub 2013 Mar 14. PLoS Genet. 2013. PMID: 23516376 Free PMC article.
96 results