Read more about the article Methylome analysis and epigenetic changes associated with menarcheal age.
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Methylome analysis and epigenetic changes associated with menarcheal age.

Abstract Reproductive factors have been linked to both breast cancer and DNA methylation, suggesting methylation as an important mechanism by which reproductive factors impact on disease risk. However, few studies…

Continue ReadingMethylome analysis and epigenetic changes associated with menarcheal age.
Read more about the article Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association.
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Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association.

Abstract

Continue ReadingOcular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association.
Read more about the article Evidence for activation of the unfolded protein response in collagen IV nephropathies.
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Evidence for activation of the unfolded protein response in collagen IV nephropathies.

Abstract Thin-basement-membrane nephropathy (TBMN) and Alport syndrome (AS) are progressive collagen IV nephropathies caused by mutations in COL4A3/A4/A5 genes. These nephropathies invariably present with microscopic hematuria and frequently progress to…

Continue ReadingEvidence for activation of the unfolded protein response in collagen IV nephropathies.
Read more about the article Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
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Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.

Abstract Autism spectrum disorders (ASDs) comprise a distinct entity of neurodevelopmental disorders with a strong genetic component. Despite the identification of several candidate genes and causative genomic copy number variations…

Continue ReadingScreening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Read more about the article Young children’s screen activities, sweet drink consumption and anthropometry: results from a prospective European study.
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Young children’s screen activities, sweet drink consumption and anthropometry: results from a prospective European study.

Abstract This longitudinal study describes the relationship between young children's screen time, dietary habits and anthropometric measures. The hypothesis was that television viewing and other screen activities at baseline result…

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Read more about the article A novel GBA2 gene missense mutation in spastic ataxia.
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A novel GBA2 gene missense mutation in spastic ataxia.

Abstract Autosomal recessive cerebellar ataxias (ARCA) encompass a heterogeneous group of rare diseases that affect the cerebellum, the spinocerebellar tract and/or the sensory tracts of the spinal cord. We investigated…

Continue ReadingA novel GBA2 gene missense mutation in spastic ataxia.
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).…

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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)…

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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.