Read more about the article In vivo, site-specific, covalent conjugation of quantum dots to proteins via split-intein splicing.
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In vivo, site-specific, covalent conjugation of quantum dots to proteins via split-intein splicing.

Abstract The ability to target proteins with nanostructures and/or nanodevices in vivo is important for understanding and controlling their biological function. Quantum dots (QDs) serve as an ideal model nanostructure…

Continue ReadingIn vivo, site-specific, covalent conjugation of quantum dots to proteins via split-intein splicing.
Read more about the article A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.
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A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.

Abstract Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy resulting from mutations in >30 genes expressed in either the Schwann cells or the axon of peripheral nerves. The disease…

Continue ReadingA novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.
Read more about the article How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
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How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?

Abstract The X-linked form of Charcot-Marie-Tooth disease (CMT1X) is the second most common form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive weakness, atrophy, and…

Continue ReadingHow do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
Read more about the article Is suppression of cyst growth in PKD enough to preserve renal function?: STAT6 inhibition is a novel promising target.
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Is suppression of cyst growth in PKD enough to preserve renal function?: STAT6 inhibition is a novel promising target.

Abstract The autosomal dominant form of polycystic kidney disease (ADPKD) is one of the most frequent monogenic disorders and the most frequent among inherited kidney disorders. In fact it has…

Continue ReadingIs suppression of cyst growth in PKD enough to preserve renal function?: STAT6 inhibition is a novel promising target.
Read more about the article Homocysteine levels and MTHFR polymorphisms in young patients with acute myocardial infarction: a case control study.
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Homocysteine levels and MTHFR polymorphisms in young patients with acute myocardial infarction: a case control study.

Abstract Increased levels of homocysteine are known to be associated with coronary artery disease (CAD). The most common form of genetic hyperhomocysteinemia results from MTHFR polymorphisms. To examine the role…

Continue ReadingHomocysteine levels and MTHFR polymorphisms in young patients with acute myocardial infarction: a case control study.
Read more about the article Morphology and phylogeny of Reticulitermes sp. (Isoptera, Rhinotermitidae) from Cyprus.
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Morphology and phylogeny of Reticulitermes sp. (Isoptera, Rhinotermitidae) from Cyprus.

Abstract Taxonomy and phylogeny of termites of the genus Reticulitermes in central and eastern Mediterranean lands are poorly understood, partly due to insufficient sampling. This study aims to contribute to…

Continue ReadingMorphology and phylogeny of Reticulitermes sp. (Isoptera, Rhinotermitidae) from Cyprus.
Read more about the article Environmental margin and island evolution in Middle Eastern populations of the Egyptian fruit bat.
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Environmental margin and island evolution in Middle Eastern populations of the Egyptian fruit bat.

Abstract Here, we present a study of the population genetic architecture and microevolution of the Egyptian fruit bat (Rousettus aegyptiacus) at the environmental margins in the Middle East using mitochondrial…

Continue ReadingEnvironmental margin and island evolution in Middle Eastern populations of the Egyptian fruit bat.
Read more about the article Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery.
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Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery.

Abstract Noninvasive prenatal diagnosis of chromosomal aneuploidies, although challenging, has been achieved through the implementation of novel methodologies such as methylated DNA immunoprecipitation and next generation sequencing technologies. Nevertheless, additional…

Continue ReadingMaternal plasma sequencing: a powerful tool towards fetal whole genome recovery.
Read more about the article δ0-Thalassemia in cis of βKnossos globin gene: first homozygous description in thalassemia intermedia Libyans and first combination with codon 39 (C→T) in thalassemia intermedia Tunisian patients.
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δ0-Thalassemia in cis of βKnossos globin gene: first homozygous description in thalassemia intermedia Libyans and first combination with codon 39 (C→T) in thalassemia intermedia Tunisian patients.

Abstract β-Thalassemia is the most common disease among hemoglobinopathies in North African and Arab populations. In the present study we report the first description of the β-Knossos codon27 (G→T) (βKnossos)…

Continue Readingδ0-Thalassemia in cis of βKnossos globin gene: first homozygous description in thalassemia intermedia Libyans and first combination with codon 39 (C→T) in thalassemia intermedia Tunisian patients.
Read more about the article A mathematical model of the unfolded protein stress response reveals the decision mechanism for recovery, adaptation and apoptosis.
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A mathematical model of the unfolded protein stress response reveals the decision mechanism for recovery, adaptation and apoptosis.

Abstract The unfolded protein response (UPR) is a major signalling cascade acting in the quality control of protein folding in the endoplasmic reticulum (ER). The cascade is known to play…

Continue ReadingA mathematical model of the unfolded protein stress response reveals the decision mechanism for recovery, adaptation and apoptosis.