Read more about the article Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia.
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Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia.

Abstract To determine the mutations in the CYP21A2 gene in Greek-Cypriots with congenital adrenal hyperplasia (CAH) and attempt a genotype-phenotype correlation. Molecular analysis was performed by multiplex ligation-dependent probe amplification…

Continue ReadingMolecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia.
Read more about the article Cyst formation in the PKD2 (1-703) transgenic rat precedes deregulation of proliferation-related pathways.
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Cyst formation in the PKD2 (1-703) transgenic rat precedes deregulation of proliferation-related pathways.

Abstract Polycystic Kidney Disease is characterized by the formation of large fluid-filled cysts that eventually destroy the renal parenchyma leading to end-stage renal failure. Although remarkable progress has been made…

Continue ReadingCyst formation in the PKD2 (1-703) transgenic rat precedes deregulation of proliferation-related pathways.
Read more about the article Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.
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Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.

Abstract To investigate clinically and genetically all the distal renal tubular acidosis (dRTA) cases in Cyprus, to study one more family from Greece and to perform the first dRTA prenatal…

Continue ReadingFounder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.
Read more about the article Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea.
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Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea.

Abstract The clinical spectrum of 5α-reductase deficiency, caused by mutations in the SRD5A2 gene, ranges from complete female appearance of the external genitalia at birth to nearly complete male phenotype.…

Continue ReadingLate diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea.
Read more about the article BioTextQuest: a web-based biomedical text mining suite for concept discovery.
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BioTextQuest: a web-based biomedical text mining suite for concept discovery.

Abstract BioTextQuest combines automated discovery of significant terms in article clusters with structured knowledge annotation, via Named Entity Recognition services, offering interactive user-friendly visualization. A tag-cloud-based illustration of terms labeling…

Continue ReadingBioTextQuest: a web-based biomedical text mining suite for concept discovery.
Read more about the article Design of a modified mouse protein with ligand binding properties of its human analog by molecular dynamics simulations: the case of C3 inhibition by compstatin.
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Design of a modified mouse protein with ligand binding properties of its human analog by molecular dynamics simulations: the case of C3 inhibition by compstatin.

Abstract The peptide compstatin and its derivatives inhibit the complement-component protein C3 in primate mammals and are potential therapeutic agents against the unregulated activation of complement in humans, but are…

Continue ReadingDesign of a modified mouse protein with ligand binding properties of its human analog by molecular dynamics simulations: the case of C3 inhibition by compstatin.
Read more about the article Thrombotic gene polymorphisms and postoperative outcome after coronary artery bypass graft surgery.
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Thrombotic gene polymorphisms and postoperative outcome after coronary artery bypass graft surgery.

Abstract Emerging perioperative genomics may influence the direction of risk assessment and surgical strategies in cardiac surgery. The aim of this study was to investigate whether single nucleotide polymorphisms (SNP)…

Continue ReadingThrombotic gene polymorphisms and postoperative outcome after coronary artery bypass graft surgery.
Read more about the article Split-inteins for simultaneous, site-specific conjugation of quantum dots to multiple protein targets in vivo.
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Split-inteins for simultaneous, site-specific conjugation of quantum dots to multiple protein targets in vivo.

Abstract Proteins labelled with Quantum Dots (QDs) can be imaged over long periods of time with ultrahigh spatial and temporal resolution, yielding important information on the spatiotemporal dynamics of proteins…

Continue ReadingSplit-inteins for simultaneous, site-specific conjugation of quantum dots to multiple protein targets in vivo.
Read more about the article Towards an extension of the two-variable model of carcinogenesis through oncogenes and tumour suppressor genes.
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Towards an extension of the two-variable model of carcinogenesis through oncogenes and tumour suppressor genes.

Abstract Currently, carcinogenesis is considered to be the result of mal-expression of tumour suppressor genes and oncogenes, leading either way to uncontrollable and disorganized cell mitosis. Recently a novel class…

Continue ReadingTowards an extension of the two-variable model of carcinogenesis through oncogenes and tumour suppressor genes.
Read more about the article Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia.
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Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia.

Abstract The aim of this study was to identify the molecular defect in a group of 37 unrelated Greek Cypriot patients affected by NC-CAH and evaluate the relationship between the…

Continue ReadingEndocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia.