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.…

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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 Differentiation of Tomato yellow leaf curl virus and Tomato yellow leaf curl Sardinia virus using real-time TaqMan PCR.
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Differentiation of Tomato yellow leaf curl virus and Tomato yellow leaf curl Sardinia virus using real-time TaqMan PCR.

Abstract During the past four decades, Tomato yellow leaf curl disease has become one of the major constraints in tomato production worldwide. In the Mediterranean basin, several isolates from two…

Continue ReadingDifferentiation of Tomato yellow leaf curl virus and Tomato yellow leaf curl Sardinia virus using real-time TaqMan PCR.
Read more about the article RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2.
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RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2.

Abstract RET germline mutations predispose to the development of inherited cancer syndrome multiple endocrine neoplasia type 2 (MEN2). Several variants of the RET proto-oncogene including G691S and S904S have been…

Continue ReadingRET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2.
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 Sleep hypoventilation syndrome and respiratory failure due to multifocal motor neuropathy with conduction block.
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Sleep hypoventilation syndrome and respiratory failure due to multifocal motor neuropathy with conduction block.

Abstract Sleep hypoventilation syndrome and respiratory failure have been reported in association with a diverse spectrum of neuromuscular disorders. We report a patient with multifocal motor neuropathy with conduction block…

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Read more about the article Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21.
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Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21.

Abstract The trials performed worldwide toward noninvasive prenatal diagnosis (NIPD) of Down's syndrome (or trisomy 21) have shown the commercial and medical potential of NIPD compared to the currently used…

Continue ReadingFetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21.
Read more about the article KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.
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KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.

Abstract Heterozygous mutations of the KCNJ11 gene encoding the Kir6.2 subunit of the ATP-sensitive potassium channel (K(ATP) channel) of the pancreatic β-cell cause diabetes in about 30-60% of all permanent…

Continue ReadingKCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.
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.