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 Short-hairpin RNA against aberrant HBB[IVSI-110(G>A)] mRNA restores β-globin levels in a novel cell model and acts as mono- and combination therapy for β-thalassemia in primary hematopoietic stem cells.
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Short-hairpin RNA against aberrant HBB[IVSI-110(G>A)] mRNA restores β-globin levels in a novel cell model and acts as mono- and combination therapy for β-thalassemia in primary hematopoietic stem cells.

Abstract

Continue ReadingShort-hairpin RNA against aberrant HBB[IVSI-110(G>A)] mRNA restores β-globin levels in a novel cell model and acts as mono- and combination therapy for β-thalassemia in primary hematopoietic stem cells.
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 Terc is dispensable for most of the short-term HPV16 oncogene-mediated phenotypes in mice.
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Terc is dispensable for most of the short-term HPV16 oncogene-mediated phenotypes in mice.

Abstract High-risk human papillomaviruses (HPVs) have been shown in vitro to impinge on telomere homeostasis in a number of ways. However, the in vivo interaction of viruses with the telomere…

Continue ReadingTerc is dispensable for most of the short-term HPV16 oncogene-mediated phenotypes in mice.
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 Positioning Europe for the EPITRANSCRIPTOMICS challenge.
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Positioning Europe for the EPITRANSCRIPTOMICS challenge.

Abstract The genetic alphabet consists of the four letters: C, A, G, and T in DNA and C,A,G, and U in RNA. Triplets of these four letters jointly encode 20…

Continue ReadingPositioning Europe for the EPITRANSCRIPTOMICS challenge.
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 Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
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Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

Abstract Biallelic mutations in gene, a caretaker of the genome, cause Rothmund-Thomson type-II syndrome (RTS-II) and confer increased cancer risk if they damage the helicase domain. We describe five families…

Continue ReadingRothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
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.