Read more about the article The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.
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The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.

Abstract 5α steroid reductase deficiency (5αSRD) is an autosomal recessive enzymatic deficiency and mutations in the 5α steroid reductase type 2 gene (SRD5A2) result in male pseudohermaphrodism caused by decreased…

Continue ReadingThe IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.
Read more about the article The risks associated with wastewater reuse and xenobiotics in the agroecological environment.
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The risks associated with wastewater reuse and xenobiotics in the agroecological environment.

Abstract Treated wastewater reuse for irrigation, landscape and surface or groundwater replenishment purposes is being widely implemented. Although the reuse practice is accompanied by a number of benefits relating to…

Continue ReadingThe risks associated with wastewater reuse and xenobiotics in the agroecological environment.
Read more about the article EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.
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EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.

Abstract To provide evidence-based guidelines to general neurologists for the assessment of patients with pauci- or asymptomatic hyperCKemia. Recent epidemiologic studies show that up to 20% of 'normal' individuals have…

Continue ReadingEFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.
Read more about the article Cystic diseases of the kidney: molecular biology and genetics.
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Cystic diseases of the kidney: molecular biology and genetics.

Abstract Cystic diseases of the kidney are a very heterogeneous group of renal inherited conditions, with more than 33 genes involved and encompassing X-linked, autosomal dominant, and autosomal recessive inheritance.…

Continue ReadingCystic diseases of the kidney: molecular biology and genetics.
Read more about the article Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels.
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Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels.

Abstract Plasma soluble leptin receptor (sOB-R) levels were inversely associated with diabetes risk factors, including adiposity and insulin resistance, and highly correlated with the expression levels of leptin receptor, which…

Continue ReadingGenome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels.
Read more about the article Hydrophilic cationic star homopolymers based on a novel diethanol-N-methylamine dimethacrylate cross-linker for siRNA transfection: synthesis, characterization, and evaluation.
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Hydrophilic cationic star homopolymers based on a novel diethanol-N-methylamine dimethacrylate cross-linker for siRNA transfection: synthesis, characterization, and evaluation.

Abstract Four cationic hydrophilic star homopolymers based on the novel hydrophilic, positively ionizable cross-linker bis(methacryloyloxyethyl)methylamine (BMEMA) were synthesized using sequential group transfer polymerization (GTP) and were, subsequently, evaluated for their…

Continue ReadingHydrophilic cationic star homopolymers based on a novel diethanol-N-methylamine dimethacrylate cross-linker for siRNA transfection: synthesis, characterization, and evaluation.
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)…

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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.