Affiliation: University of Athens
- Kokotas H, Grigoriadou M, Villamar M, Giannoulia Karantana A, del Castillo I, Petersen M. Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?. Genet Test Mol Biomarkers. 2010;14:183-7 pubmed publisher....
- Kokotas H, Papagiannaki K, Grigoriadou M, Petersen M, Katsarou A. Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3. Eur J Dermatol. 2012;22:182-6 pubmed publisher..The substitution was found to result in a p.E99K change of the Cx30.3 protein, an alteration predicted to have a benign rather than a damaging effect on the protein function. ..
- Kokotas H, Grigoriadou M, Korres G, Ferekidou E, Giannoulia Karantana A, Kandiloros D, et al. Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?. J Hum Genet. 2010;55:265-9 pubmed publisher..Here we summarize evidence regarding modifying genes, and we discuss the effect of the coexistence of mitochondrial and GJB2 mutations in families reported to date...
- Kokotas H, Grigoriadou M, Yang L, Lodahl M, Rendtorff N, Gyftodimou Y, et al. Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss. Int J Pediatr Otorhinolaryngol. 2011;75:89-94 pubmed publisher..The G7444A mitochondrial DNA mutation has been reported in only a few cases worldwide, alone or in cosegregation with other mitochondrial DNA mutations, but to our knowledge, never before in coexistence with the GJB2 c.35delG mutation. ..