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, Hatzaki A, Antoniadi T, Giannoulia Karantana A, Petersen M. Easy, rapid, and cost-effective methods for identifying carriers of recurrent GJB2 mutations causing nonsyndromic hearing impairment in the Greek population. Genet Test Mol Biomarkers. 2010;14:189-92 pubmed publisher
..Developing easy, rapid, and cost-effective screening methods will facilitate the detection of GJB2 recurrent mutation carriers, at large, in the Greek population. ..
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. ..