Read more about the article Intrathecal gene therapy in mouse models expressing CMT1X mutations.
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Intrathecal gene therapy in mouse models expressing CMT1X mutations.

Abstract Gap junction beta-1 (GJB1) gene mutations affecting the gap junction protein connexin32 (Cx32) cause the X-linked Charcot-Marie-Tooth disease (CMT1X), a common inherited neuropathy. Targeted expression of virally delivered Cx32…

Continue ReadingIntrathecal gene therapy in mouse models expressing CMT1X mutations.
Read more about the article The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Abstract Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and…

Continue ReadingThe BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Read more about the article Food and beverage intakes according to physical activity levels in European children: the IDEFICS (Identification and prevention of Dietary and lifestyle induced health EFfects In Children and infantS) study.
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Food and beverage intakes according to physical activity levels in European children: the IDEFICS (Identification and prevention of Dietary and lifestyle induced health EFfects In Children and infantS) study.

Abstract Physical activity (PA) levels and dietary habits are considered some of the most important factors associated with obesity. The present study aimed to examine the association between PA level…

Continue ReadingFood and beverage intakes according to physical activity levels in European children: the IDEFICS (Identification and prevention of Dietary and lifestyle induced health EFfects In Children and infantS) study.
Read more about the article An electroglottographical analysis-based discriminant function model differentiating multiple sclerosis patients from healthy controls.
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An electroglottographical analysis-based discriminant function model differentiating multiple sclerosis patients from healthy controls.

Abstract Dysarthrophonia is a predominant symptom in many neurological diseases, affecting the quality of life of the patients. In this study, we produced a discriminant function equation that can differentiate…

Continue ReadingAn electroglottographical analysis-based discriminant function model differentiating multiple sclerosis patients from healthy controls.
Read more about the article Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.
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Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.

Abstract The present study investigated the clinical and mutational spectrum of aniridia in a cohort of 17 affected individuals from six families from Cyprus. Each proband was initially evaluated for copy…

Continue ReadingMolecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.
Read more about the article MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT.
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MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT.

Abstract DNA methylation is the most characterized epigenetic process exhibiting stochastic variation across different tissues and individuals. In non-invasive prenatal testing (NIPT) fetal specific methylated regions can potentially be used…

Continue ReadingMeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT.
Read more about the article Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.
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Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.

Abstract MYF5 is member of the Myc-like basic helix-loop-helix transcription factor family and, in cooperation with other myogenic regulatory factors MYOD and MYF5, is a key regulator of early stages…

Continue ReadingRecessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.
Read more about the article Meta-Analysis of Common and Rare Variants.
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Meta-Analysis of Common and Rare Variants.

Abstract Meta-analysis is a statistical technique that is widely used for improving the power to detect associations, by synthesizing data from independent studies, and is extensively used in the genomic…

Continue ReadingMeta-Analysis of Common and Rare Variants.
Read more about the article Current Status and Future Prospects of Small-molecule Protein-protein Interaction (PPI) Inhibitors of Tumor Necrosis Factor (TNF) and Receptor Activator of NF-κB Ligand (RANKL).
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Current Status and Future Prospects of Small-molecule Protein-protein Interaction (PPI) Inhibitors of Tumor Necrosis Factor (TNF) and Receptor Activator of NF-κB Ligand (RANKL).

Abstract The overexpression of Tumor Necrosis Factor (TNF) is directly related to the development of several autoimmune diseases, such as rheumatoid and psoriatic arthritis, inflammatory bowel disease, Crohn's disease, refractory…

Continue ReadingCurrent Status and Future Prospects of Small-molecule Protein-protein Interaction (PPI) Inhibitors of Tumor Necrosis Factor (TNF) and Receptor Activator of NF-κB Ligand (RANKL).
Read more about the article Constructing the genetic population demography of the invasive lionfish Pterois miles in the Levant Basin, Eastern Mediterranean.
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Constructing the genetic population demography of the invasive lionfish Pterois miles in the Levant Basin, Eastern Mediterranean.

Abstract The recent invasion of the lionfish Pterois miles to the Mediterranean draws major concerns to the fate of the indigenous ecosystem, based on previous knowledge of the species' detrimental…

Continue ReadingConstructing the genetic population demography of the invasive lionfish Pterois miles in the Levant Basin, Eastern Mediterranean.