Read more about the article A novel variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.
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A novel variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.

Abstract Approximately 10-15% of intellectual disability (ID) cases are caused by genetic aberrations affecting chromosome X, a condition termed X-linked ID (XLID). Examination by whole-exome sequencing of two male siblings…

Continue ReadingA novel variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.
Read more about the article Physical and verbal aggressive behavior and COMT genotype: Sensitivity to the environment.
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Physical and verbal aggressive behavior and COMT genotype: Sensitivity to the environment.

Abstract Catechol-O-methyltransferase (COMT) genotype has been implicated as a vulnerability factor for several psychiatric diseases as well as aggressive behavior, either directly, or in interaction with an adverse environment. The…

Continue ReadingPhysical and verbal aggressive behavior and COMT genotype: Sensitivity to the environment.
Read more about the article Y-chromosome phylogeographic analysis of the Greek-Cypriot population reveals elements consistent with Neolithic and Bronze Age settlements.
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Y-chromosome phylogeographic analysis of the Greek-Cypriot population reveals elements consistent with Neolithic and Bronze Age settlements.

Abstract The archeological record indicates that the permanent settlement of Cyprus began with pioneering agriculturalists circa 11,000 years before present, (ca. 11,000 y BP). Subsequent colonization events followed, some recognized regionally. Here,…

Continue ReadingY-chromosome phylogeographic analysis of the Greek-Cypriot population reveals elements consistent with Neolithic and Bronze Age settlements.
Read more about the article Influence of physical fitness on cardio-metabolic risk factors in European children. The IDEFICS study.
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Influence of physical fitness on cardio-metabolic risk factors in European children. The IDEFICS study.

Abstract The aim of the study was to assess the associations of individual and combined physical fitness components with single and clustering of cardio-metabolic risk factors in children. This 2-year…

Continue ReadingInfluence of physical fitness on cardio-metabolic risk factors in European children. The IDEFICS study.
Read more about the article MicroRNA expression and its association with DNA repair in preimplantation embryos.
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MicroRNA expression and its association with DNA repair in preimplantation embryos.

Abstract Active DNA repair pathways are crucial for preserving genomic integrity and are likely among the complex mechanisms involved in the normal development of preimplantation embryos. MicroRNAs (miRNA), short non-coding…

Continue ReadingMicroRNA expression and its association with DNA repair in preimplantation embryos.
Read more about the article Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.
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Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.

Abstract Fanconi anemia (FA) is a rare disorder characterized by multiple congenital malformations, progressive bone marrow failure and susceptibility to malignancies. Biallelic mutations in the breast cancer 2, early onset…

Continue ReadingFanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.
Read more about the article Circum-Mediterranean phylogeography of a bat coupled with past environmental niche modeling: A new paradigm for the recolonization of Europe?
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Circum-Mediterranean phylogeography of a bat coupled with past environmental niche modeling: A new paradigm for the recolonization of Europe?

Abstract The isolation of populations in the Iberian, Italian and Balkan peninsulas during the ice ages define four main paradigms that explain much of the known distribution of intraspecific genetic…

Continue ReadingCircum-Mediterranean phylogeography of a bat coupled with past environmental niche modeling: A new paradigm for the recolonization of Europe?
Read more about the article RAAS inhibition and the course of Alport syndrome.
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RAAS inhibition and the course of Alport syndrome.

Abstract Alport syndrome (AS) is a hereditary progressive glomerulonephritis with a high life-time risk for end-stage renal disease (ESRD). Most patients will reach ESRD before the age of 30 years,…

Continue ReadingRAAS inhibition and the course of Alport syndrome.
Read more about the article A ligand-independent integrin β1 mechanosensory complex guides spindle orientation.
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A ligand-independent integrin β1 mechanosensory complex guides spindle orientation.

Abstract Control of spindle orientation is a fundamental process for embryonic development, morphogenesis and tissue homeostasis, while defects are associated with tumorigenesis and other diseases. Force sensing is one of…

Continue ReadingA ligand-independent integrin β1 mechanosensory complex guides spindle orientation.
Read more about the article Titin antibodies in "seronegative" myasthenia gravis–A new role for an old antigen.
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Titin antibodies in "seronegative" myasthenia gravis–A new role for an old antigen.

Abstract Myasthenia gravis (MG) is an autoimmune disease caused by antibodies targeting the neuromuscular junction of skeletal muscles. Triple-seronegative MG (tSN-MG, without detectable AChR, MuSK and LRP4 antibodies), which accounts…

Continue ReadingTitin antibodies in "seronegative" myasthenia gravis–A new role for an old antigen.