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Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.
Khan K, Rudkin A, Parry DA, Burdon KP, McKibbin M, Logan CV, Abdelhamed ZI, Muecke JS, Fernandez-Fuentes N, Laurie KJ, Shires M, Fogarty R, Carr IM, Poulter JA, Morgan JE, Mohamed MD, Jafri H, Raashid Y, Meng N, Piseth H, Toomes C, Casson RJ, Taylor GR, Hammerton M, Sheridan E, Johnson CA, Inglehearn CF, Craig JE, Ali M. Khan K, et al. Am J Hum Genet. 2011 Sep 9;89(3):464-73. doi: 10.1016/j.ajhg.2011.08.005. Am J Hum Genet. 2011. PMID: 21907015 Free PMC article.
Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
Panagiotou ES, Fernandez-Fuentes N, Farraj LA, McKibbin M, Elçioglu NH, Jafri H, Cerman E, Parry DA, Logan CV, Johnson CA, Inglehearn CF, Toomes C, Ali M. Panagiotou ES, et al. Among authors: fernandez fuentes n. Mol Vis. 2022 May 17;28:57-69. eCollection 2022. Mol Vis. 2022. PMID: 35693420 Free PMC article.
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
Khan K, Logan CV, McKibbin M, Sheridan E, Elçioglu NH, Yenice O, Parry DA, Fernandez-Fuentes N, Abdelhamed ZI, Al-Maskari A, Poulter JA, Mohamed MD, Carr IM, Morgan JE, Jafri H, Raashid Y, Taylor GR, Johnson CA, Inglehearn CF, Toomes C, Ali M. Khan K, et al. Hum Mol Genet. 2012 Feb 15;21(4):776-83. doi: 10.1093/hmg/ddr509. Epub 2011 Nov 7. Hum Mol Genet. 2012. PMID: 22068589 Free PMC article.
Structural characteristics of novel protein folds.
Fernandez-Fuentes N, Dybas JM, Fiser A. Fernandez-Fuentes N, et al. PLoS Comput Biol. 2010 Apr 22;6(4):e1000750. doi: 10.1371/journal.pcbi.1000750. PLoS Comput Biol. 2010. PMID: 20421995 Free PMC article.
CAPS-DB: a structural classification of helix-capping motifs.
Segura J, Oliva B, Fernandez-Fuentes N. Segura J, et al. Nucleic Acids Res. 2012 Jan;40(Database issue):D479-85. doi: 10.1093/nar/gkr879. Epub 2011 Oct 22. Nucleic Acids Res. 2012. PMID: 22021380 Free PMC article.
M4T: a comparative protein structure modeling server.
Fernandez-Fuentes N, Madrid-Aliste CJ, Rai BK, Fajardo JE, Fiser A. Fernandez-Fuentes N, et al. Nucleic Acids Res. 2007 Jul;35(Web Server issue):W363-8. doi: 10.1093/nar/gkm341. Epub 2007 May 21. Nucleic Acids Res. 2007. PMID: 17517764 Free PMC article.
84 results