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 Learning What to Attend to: From the Lab to the Classroom.
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Learning What to Attend to: From the Lab to the Classroom.

Abstract Research in adult cognitive neuroscience addresses the bidirectional relationship between attentional selection and prior knowledge gained from learning and experience. This research area is ready for integration with developmental…

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Read more about the article STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.
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STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.

Abstract We present three siblings afflicted with a disease characterized by cerebellar ataxia, cerebellar atrophy, pyramidal tract damage with increased lower limb tendon reflexes and onset of 31 to 57…

Continue ReadingSTUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.
Read more about the article The Interactions between Bone Remodelling, Estrogen Hormone and EPH Family Genes.
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The Interactions between Bone Remodelling, Estrogen Hormone and EPH Family Genes.

Abstract Osteoporosis is a major health issue, especially in older women. The absence of estrogen is the main cause of menopausal osteoporosis. Estrogen and androgen hormones play major roles during…

Continue ReadingThe Interactions between Bone Remodelling, Estrogen Hormone and EPH Family Genes.
Read more about the article The Wonders of Silk Fibroin Biomaterials in the Treatment of Breast Cancer.
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The Wonders of Silk Fibroin Biomaterials in the Treatment of Breast Cancer.

Abstract Breast cancer has continued to be a cause of increasing morbidity and mortality in women, being the most common cause of cancer-related deaths among them. Its management using chemotherapy…

Continue ReadingThe Wonders of Silk Fibroin Biomaterials in the Treatment of Breast Cancer.
Read more about the article Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia.
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Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia.

Abstract To develop a sensitive, specific, simple, cost-effective and reproducible platform for the non-invasive prenatal detection of paternally inherited alleles for β-thalassaemia. The development of such an assay is of…

Continue ReadingFast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia.
Read more about the article Intrathecal Delivery of Viral Vectors for Gene Therapy.
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Intrathecal Delivery of Viral Vectors for Gene Therapy.

Abstract Gene delivery to the peripheral nervous system for therapeutic applications remains technically challenging but could eventually have a significant impact on the development of innovative treatments not only for…

Continue ReadingIntrathecal Delivery of Viral Vectors for Gene Therapy.