Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification.
Poznań, Poland. In Ophthalmic Genet, Sep 2015
The purpose of our study was to verify the role of VSX1, TGFBI, DOCK9, IPO5, and STK24 sequence variants in Polish KTCN patients.
Insights into keratoconus from a genetic perspective.
Adelaide, Australia. In Clin Exp Optom, 2013
Family-based studies have recently led to the identification of the MIR184 gene for keratoconus with cataract and to the DOCK9 gene in a family with isolated keratoconus.
Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.
Poznań, Poland. In Eur J Hum Genet, 2012
Consequently, we have chosen eight positional candidate genes in this region: MBNL1, IPO5, FARP1, RNF113B, STK24, DOCK9, ZIC5 and ZIC2, and sequenced all of them in 51 individuals from Ecuadorian KTCN families and 105 matching controls.