Ts, D. M.; Myagkota, S. V. J. Phys. Chem. Solids 2008, 69, 2520-2526. (18) Stoumpos, C. C.; Malliakas, C. D.; Kanatzidis, M. G. Inorg. Chem. 2013, 52, 9019-9038. (19) Babin, V.; Fabeni, P.; Nikl, M.; Nitsch, K.; Pazzi, G. P.; Zazubovich, S. Phys. Status Solidi B 2001, 226, 419-428. (20) Christodoulou, S.; Vaccaro, G.; Pinchetti, V.; De Donato, F.; Grim, J. Q.; Casu, A.; Genovese, A.; Vicidomini, G.; Diaspro, A.; Brovelli, S.; Manna, L.; Moreels, I. J. Mater. Chem. C 2014, 2, 3439- 3447. (21) Wehrenfennig, C.; Liu, M.; Snaith, H. J.; Johnston, M. B.; Herz, L. M. J. Phys. Chem. Lett. 2014, 5, 1300-1306. (22) Zhang, M.; Yu, H.; Lyu, M.; Wang, Q.; Yun, J.-H.; Wang, L. Chem. Commun. 2014, 50, 11727-11730. (23) Xing, G.; Mathews, N.; Lim, S. S.; Yantara, N.; Liu, X.; Sabba, D.; Gratzel, M.; Mhaisalkar, S.; Sum, T. C. Nat. Mater. 2014, 13, 476- 480. (24) Deschler, F.; Value, M.; Pathak, S.; Klintberg, L. E.; Jarausch, D.D.; Higler, R.; Huttner, S.; Leijtens, T.; Stranks, S. D.; Snaith, H. J.; Atature, M.; Phillips, R. T.; Buddy, R. H. J. Phys. Chem. Lett. 2014, five, 1421-1426. (25) Tan, Z.-K.; Moghaddam, R. S.; Lai, M. L.; Docampo, P.; Higler, R.; Deschler, F.; Price, M.; Sadhanala, A.; Pazos, L. M.; Credgington, D.; Hanusch, F.; Bein, T.; Snaith, H. J.; Friend, R. H. Nat. Nanotechnol. 2014, 9, 687-692. (26) Ueng, H. Y.; Hwang, H. L. J. Phys. Chem. Solids 1989, 50, 1297- 1305. (27) Huang, L.; Zhu, X.; Publicover, N. G.; Hunter, K. W.; Ahmadiantehrani, M.; de Bettencourt-Dias, A.; Bell, T. W. J. Nanopart. Res. 2013, 15, 2056. (28) De Trizio, L.; Prato, M.; Genovese, A.; Casu, A.; Povia, M.; Simonutti, R.; Alcocer, M. J. P.; D’Andrea, C.; Tassone, F.; Manna, L. Chem. Mater. 2012, 24, 2400-2406.
Molecular Vision 2013; 19:852-860 http://molvis.org/molvis/v19/852 Received 26 July 2012 | Accepted 9 April 2013 | Published 11 April?2013 Molecular VisionScreening the visual method homeobox 1 gene in keratoconus and posterior polymorphous dystrophy cohorts identifies a novel variantAndrea L.Buy2445347-90-8 Vincent,1,two Charlotte Jordan,1,2 Leo Sheck,1,2 Rachel Niederer,1,2 Dipika V.30094-32-7 Formula Patel,1,2 Charles N.PMID:24257686 J. McGhee1,Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Overall health Science, University of Auckland, New Zealand; 2Ophthalmology Division, Greenlane Clinical Centre, Auckland District Well being Board, Auckland, New ZealandPurpose: Mutations within the visual program homeobox 1 (VSX1) gene happen to be described at a low frequency in keratoconus and posterior polymorphous corneal dystrophy (PPCD). The putative role is controversial for various motives, like a lack of mutations detected in other population cohorts. This study aims to ascertain no matter if VSX1 contributes to the genetic pathogenesis of keratoconus and PPCD inside a New Zealand population, and consists of analysis of a Polynesian population. Solutions: Recruitment of patients with keratoconus and PPCD, comprehensive clinical examination including corneal topography and pachymetry, and collection of biologic samples for DNA extraction were undertaken. Mutational analysis of VSX1 (exons 1?) with PCR and sequencing with bioinformatic assessment of variants was performed. Probable pathogenic variants have been screened for inside a manage population working with high-resolution melting evaluation. Benefits: Forty-seven patients with keratoconus, like 15 familial situations, and ten unrelated sufferers with PPCD have been recruited. Two pathogenic adjustments had been detected; a novel alter c.173CT (p.Pro58Leu) was found in a.
