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 Regulating complement in the kidney: insights from CFHR5 nephropathy.
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Regulating complement in the kidney: insights from CFHR5 nephropathy.

Abstract Complement factor H related protein 5 (CFHR5) nephropathy is a monogenic disorder of complement regulation that is endemic in Cyprus. The disease is characterised by haematuria, C3 glomerulonephritis and…

Continue ReadingRegulating complement in the kidney: insights from CFHR5 nephropathy.
Read more about the article Analysis of enterovirus and adenovirus presence in swimming pools in Cyprus from 2007-2008.
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Analysis of enterovirus and adenovirus presence in swimming pools in Cyprus from 2007-2008.

Abstract An analysis was carried out to determine the presence of enteroviruses and adenoviruses in public swimming pools in Cyprus. The effectiveness of the commonly implemented disinfection procedure of chlorination…

Continue ReadingAnalysis of enterovirus and adenovirus presence in swimming pools in Cyprus from 2007-2008.
Read more about the article Testing alternative hypotheses for evolutionary diversification in an African songbird: rainforest refugia versus ecological gradients.
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Testing alternative hypotheses for evolutionary diversification in an African songbird: rainforest refugia versus ecological gradients.

Abstract Geographic isolation in rainforest refugia and local adaptation to ecological gradients may both be important drivers of evolutionary diversification. However, their relative importance and the underlying mechanisms of these…

Continue ReadingTesting alternative hypotheses for evolutionary diversification in an African songbird: rainforest refugia versus ecological gradients.
Read more about the article Near-full genome characterization of unclassified hepatitis C virus strains relating to genotypes 1 and 4.
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Near-full genome characterization of unclassified hepatitis C virus strains relating to genotypes 1 and 4.

Abstract Near-full genome sequences are presented in this report for the first time of unclassified HCV strains amplified using RT-PCR from plasma of patients living in Cyprus. One strain appears…

Continue ReadingNear-full genome characterization of unclassified hepatitis C virus strains relating to genotypes 1 and 4.
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.