Read more about the article Friedreich’s ataxia and other hereditary ataxias in Greece: an 18-year perspective.
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Friedreich’s ataxia and other hereditary ataxias in Greece: an 18-year perspective.

Abstract Limited data exist on the spectrum of heredoataxias in Greece, including the prevalence and phenotype of Friedreich's ataxia (FRDA) and the prevalence and subtypes of dominant spinocerebellar ataxias (SCAs).…

Continue ReadingFriedreich’s ataxia and other hereditary ataxias in Greece: an 18-year perspective.
Read more about the article Twist reverses muscle cell differentiation through transcriptional down-regulation of myogenin.
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Twist reverses muscle cell differentiation through transcriptional down-regulation of myogenin.

Abstract Some higher vertebrates can display unique muscle regenerative abilities through dedifferentiation. Research evidence suggests that induced dedifferentiation can be achieved in mammalian cells. TWIST is a bHLH (basic helix-loop-helix)…

Continue ReadingTwist reverses muscle cell differentiation through transcriptional down-regulation of myogenin.
Read more about the article Time and dose-dependent effects of phenobarbital on the rat liver miRNAome.
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Time and dose-dependent effects of phenobarbital on the rat liver miRNAome.

Abstract In a previous study we had shown that treatment of male Fischer rats with exogenous chemicals for three months resulted in prominent, mode-of-action dependent effects on liver microRNA (miRNA)…

Continue ReadingTime and dose-dependent effects of phenobarbital on the rat liver miRNAome.
Read more about the article A taxonomic study of Phlebotomus (Larroussius) perfiliewi s. l.
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A taxonomic study of Phlebotomus (Larroussius) perfiliewi s. l.

Abstract Phlebotomus (Larroussius) perfiliewi is one of the main vectors of Leishmania infantum in the Mediterranean basin and in Central Asia. Its taxonomic status remains doubtful. It usually includes three…

Continue ReadingA taxonomic study of Phlebotomus (Larroussius) perfiliewi s. l.
Read more about the article The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.
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The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.

Abstract The identification of variants of unknown clinical significance (VUS) in the BRCA1 gene complicates genetic counselling and causes additional anxiety to carriers. In silico approaches currently used for VUS…

Continue ReadingThe BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.
Read more about the article Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.
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Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.

Abstract Pantothenate kinase-associated neurodegeneration (PKAN) is the commonest, recessively inherited form of neurodegeneration with brain iron accumulation (NBIA) resulting from mutations in the pantothenate kinase 2 (PANK2) gene on chromosome…

Continue ReadingNovel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.
Read more about the article Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11.
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Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11.

Abstract We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4-11 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on one allele and p.Phe508del…

Continue ReadingApparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11.
Read more about the article Early childhood electronic media use as a predictor of poorer well-being: a prospective cohort study.
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Early childhood electronic media use as a predictor of poorer well-being: a prospective cohort study.

Abstract Identifying associations between preschool-aged children's electronic media use and their later well-being is essential to supporting positive long-term outcomes. To investigate possible dose-response associations of young children's electronic media…

Continue ReadingEarly childhood electronic media use as a predictor of poorer well-being: a prospective cohort study.
Read more about the article New miRNA profiles accurately distinguish renal cell carcinomas and upper tract urothelial carcinomas from the normal kidney.
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New miRNA profiles accurately distinguish renal cell carcinomas and upper tract urothelial carcinomas from the normal kidney.

Abstract Upper tract urothelial carcinomas (UT-UC) can invade the pelvicalyceal system making differential diagnosis of the various histologically distinct renal cell carcinoma (RCC) subtypes and UT-UC, difficult. Correct diagnosis is…

Continue ReadingNew miRNA profiles accurately distinguish renal cell carcinomas and upper tract urothelial carcinomas from the normal kidney.
Read more about the article Genetic polymorphisms in warfarin and tacrolimus-related genes VKORC1, CYP2C9 and CYP3A5 in the Greek-Cypriot population.
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Genetic polymorphisms in warfarin and tacrolimus-related genes VKORC1, CYP2C9 and CYP3A5 in the Greek-Cypriot population.

Abstract Two variants in the gene encoding the cytochrome P450 2C9 enzyme (CYP2C9) are considered the most significant genetic risk factors associated with bleeding after warfarin prescription. A variant in…

Continue ReadingGenetic polymorphisms in warfarin and tacrolimus-related genes VKORC1, CYP2C9 and CYP3A5 in the Greek-Cypriot population.