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Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E. Van de Sompele S, et al. Among authors: karali m. Genet Med. 2019 Jun;21(6):1319-1329. doi: 10.1038/s41436-018-0345-5. Epub 2018 Oct 31. Genet Med. 2019. PMID: 30377383 Free PMC article.
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. Among authors: karali m. 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.
miRNeye: a microRNA expression atlas of the mouse eye.
Karali M, Peluso I, Gennarino VA, Bilio M, Verde R, Lago G, Dollé P, Banfi S. Karali M, et al. BMC Genomics. 2010 Dec 20;11:715. doi: 10.1186/1471-2164-11-715. BMC Genomics. 2010. PMID: 21171988 Free PMC article.
MicroRNA-restricted transgene expression in the retina.
Karali M, Manfredi A, Puppo A, Marrocco E, Gargiulo A, Allocca M, Corte MD, Rossi S, Giunti M, Bacci ML, Simonelli F, Surace EM, Banfi S, Auricchio A. Karali M, et al. PLoS One. 2011;6(7):e22166. doi: 10.1371/journal.pone.0022166. Epub 2011 Jul 26. PLoS One. 2011. PMID: 21818300 Free PMC article.
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.
Conte I, Hadfield KD, Barbato S, Carrella S, Pizzo M, Bhat RS, Carissimo A, Karali M, Porter LF, Urquhart J, Hateley S, O'Sullivan J, Manson FD, Neuhauss SC, Banfi S, Black GC. Conte I, et al. Among authors: karali m. Proc Natl Acad Sci U S A. 2015 Jun 23;112(25):E3236-45. doi: 10.1073/pnas.1401464112. Epub 2015 Jun 8. Proc Natl Acad Sci U S A. 2015. PMID: 26056285 Free PMC article.
46 results