Read more about the article X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.
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X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.

Abstract The X-linked Alport syndrome (ATS) is caused by mutations in COL4A5 and exhibits a widely variable expression. Usually ATS is heralded with continuous microhematuria which rapidly progresses to proteinuria,…

Continue ReadingX-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.
Read more about the article Effect of drought and rewatering on the cellular status and antioxidant response of Medicago truncatula plants.
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Effect of drought and rewatering on the cellular status and antioxidant response of Medicago truncatula plants.

Abstract Effects of water stress on plants have been well-documented. However, the combined responses to drought and rewatering and their underlying mechanisms are relatively unknown. The present study attempts to…

Continue ReadingEffect of drought and rewatering on the cellular status and antioxidant response of Medicago truncatula plants.
Read more about the article Gap junction disorders of myelinating cells.
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Gap junction disorders of myelinating cells.

Abstract Gap junctions (GJs) are channels that allow the diffusion of ions and small molecules across apposed cell membranes. In peripheral nerves, Schwann cells express the GJ proteins connexin32 (Cx32)…

Continue ReadingGap junction disorders of myelinating cells.
Read more about the article Development of a molecular-beacon-based multi-allelic real-time RT-PCR assay for the detection of human coronavirus causing severe acute respiratory syndrome (SARS-CoV): a general methodology for detecting rapidly mutating viruses.
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Development of a molecular-beacon-based multi-allelic real-time RT-PCR assay for the detection of human coronavirus causing severe acute respiratory syndrome (SARS-CoV): a general methodology for detecting rapidly mutating viruses.

Abstract Emerging infectious diseases have caused a global effort for development of fast and accurate detection techniques. The rapidly mutating nature of viruses presents a major difficulty, highlighting the need…

Continue ReadingDevelopment of a molecular-beacon-based multi-allelic real-time RT-PCR assay for the detection of human coronavirus causing severe acute respiratory syndrome (SARS-CoV): a general methodology for detecting rapidly mutating viruses.
Read more about the article Replication of genome-wide discovered breast cancer risk loci in the Cypriot population.
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Replication of genome-wide discovered breast cancer risk loci in the Cypriot population.

Abstract Genome-wide association studies (GWAS) have identified associations with robust statistical support for influencing breast cancer susceptibility. Most GWAS and replications have been conducted in Northern European populations and to…

Continue ReadingReplication of genome-wide discovered breast cancer risk loci in the Cypriot population.
Read more about the article Recurrence of complement factor H-related protein 5 nephropathy in a renal transplant.
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Recurrence of complement factor H-related protein 5 nephropathy in a renal transplant.

Abstract Complement factor H-related protein 5 (CFHR5) nephropathy is a familial renal disease endemic in Cyprus. It is characterized by persistent microscopic hematuria, synpharyngitic macroscopic hematuria and progressive renal impairment.…

Continue ReadingRecurrence of complement factor H-related protein 5 nephropathy in a renal transplant.
Read more about the article A computationally fast measure of epistasis for 2 SNPs and a categorical phenotype.
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A computationally fast measure of epistasis for 2 SNPs and a categorical phenotype.

Abstract Complex diseases may be caused by interactions or combined effects between multiple genetic and environmental factors. One of the main limitations of testing for interaction between genetic loci in…

Continue ReadingA computationally fast measure of epistasis for 2 SNPs and a categorical phenotype.
Read more about the article Technical note: A simplified PCR-based assay for the characterization of two prolactin variants that affect milk traits in sheep breeds.
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Technical note: A simplified PCR-based assay for the characterization of two prolactin variants that affect milk traits in sheep breeds.

Abstract In the present study, a rapid and cost-effective PCR-based assay was developed for the genetic identification of 2 different variants within intron 2 of the prolactin gene. This polymorphism…

Continue ReadingTechnical note: A simplified PCR-based assay for the characterization of two prolactin variants that affect milk traits in sheep breeds.
Read more about the article The nuclear ATPase/adenylate kinase hCINAP is recruited to perinucleolar caps generated upon RNA pol.II inhibition.
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The nuclear ATPase/adenylate kinase hCINAP is recruited to perinucleolar caps generated upon RNA pol.II inhibition.

Abstract hCINAP is an atypical nucleoplasmic enzyme, combining structural features of adenylate kinases and ATPases, which exhibits dual enzymatic activity. It interacts with the Cajal Body marker coilin and its…

Continue ReadingThe nuclear ATPase/adenylate kinase hCINAP is recruited to perinucleolar caps generated upon RNA pol.II inhibition.
Read more about the article Genetic differentiation of the house mouse around the Mediterranean basin: matrilineal footprints of early and late colonization.
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Genetic differentiation of the house mouse around the Mediterranean basin: matrilineal footprints of early and late colonization.

Abstract The molecular signatures of the recent expansion of the western house mouse, Mus musculus domesticus, around the Mediterranean basin are investigated through the study of mitochondrial D-loop polymorphism on…

Continue ReadingGenetic differentiation of the house mouse around the Mediterranean basin: matrilineal footprints of early and late colonization.