Read more about the article Integrating multi-source information on a single network to detect disease-related clusters of molecular mechanisms.
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Integrating multi-source information on a single network to detect disease-related clusters of molecular mechanisms.

Abstract The abundance of available information for each disease from multiple sources (e.g. as genetic, regulatory, metabolic, and protein-protein interaction) constitutes both an advantage and a challenge in identifying disease-specific…

Continue ReadingIntegrating multi-source information on a single network to detect disease-related clusters of molecular mechanisms.
Read more about the article Use of U-STELA for Accurate Measurement of Extremely Short Telomeres.
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Use of U-STELA for Accurate Measurement of Extremely Short Telomeres.

Abstract Telomeres are repetitive genetic materials that protect the chromosomes by capping the ends of chromosomes. Each time a cell divides, telomeres get shorter. Telomere length is mainly maintained by…

Continue ReadingUse of U-STELA for Accurate Measurement of Extremely Short Telomeres.
Read more about the article Genetic characterisation of 19 autosomal STR loci in a population sample from the Southeastern Anatolia Region of Turkey.
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Genetic characterisation of 19 autosomal STR loci in a population sample from the Southeastern Anatolia Region of Turkey.

Abstract Southeastern Anatolia is the smallest, yet the most densely populated region among the seven major geographic constituents of Turkey. Situated in the Upper Mesopotamia, Southeastern Anatolia was also the…

Continue ReadingGenetic characterisation of 19 autosomal STR loci in a population sample from the Southeastern Anatolia Region of Turkey.
Read more about the article Genetic diversity of Avena ventricosa populations along an ecogeographical transect in Cyprus is correlated to environmental variables.
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Genetic diversity of Avena ventricosa populations along an ecogeographical transect in Cyprus is correlated to environmental variables.

Abstract Avena ventricosa Balansa ex Coss. is considered the C-genome donor of the cultivated hexaploid oat and is a 'priority' species for conservation, since it has limited geographic distribution and…

Continue ReadingGenetic diversity of Avena ventricosa populations along an ecogeographical transect in Cyprus is correlated to environmental variables.
Read more about the article A 74-Year-Old Female with a Well Circumscribed Parietal Lobe Mass.
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A 74-Year-Old Female with a Well Circumscribed Parietal Lobe Mass.

Abstract

Continue ReadingA 74-Year-Old Female with a Well Circumscribed Parietal Lobe Mass.
Read more about the article Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.
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Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.

Abstract Marfan syndrome (MFS) is a multi-systemic autosomal dominant condition caused by mutations in the gene (FBN1) coding for fibrillin-1. Mutations have been associated with a wide range of overlapping…

Continue ReadingIdentification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.
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.