Search Results - "Demetriou, Kyproula"
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Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing
Published in PloS one (16-12-2014)“…Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane…”
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Epigenetic chromatin modifiers in barley: I. Cloning, mapping and expression analysis of the plant specific HD2 family of histone deacetylases from barley, during seed development and after hormonal treatment
Published in Physiologia plantarum (01-07-2009)“…Epigenetic phenomena have been associated with modifications of chromatin structure. These are achieved, in part, by histone post-translational modifications…”
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Genetic Variation of DKK3 May Modify Renal Disease Severity in ADPKD
Published in Journal of the American Society of Nephrology (01-09-2010)“…Significant variation in the course of autosomal dominant polycystic kidney disease ( ADPKD) within families suggests the presence of effect modifiers. Recent…”
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Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease
Published in Journal of the American Society of Nephrology (01-05-2003)“…Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder that affects approximately 1 in 1000 live births. Mutations of two genes,…”
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Rapid remediation of soil heavily contaminated with hydrocarbons: a comparison of different approaches
Published in Annals of microbiology (01-03-2015)“…To improve our understanding of the dissipation kinetics of total petroleum hydrocarbons (TPH), we tested two bioremediation strategies in soil heavily…”
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Characterization and expression analysis of AGAMOUS-like, SEEDSTICK-like, and SEPALLATA-like MADS-box genes in peach ( Prunus persica) fruit
Published in Plant physiology and biochemistry (01-08-2009)“…MADS-box genes encode transcriptional regulators that are critical for flowering, flower organogenesis and plant development. Although there are extensive…”
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Epigenetic Chromatin Modifiers in Barley: II. Characterization and Expression Analysis of the HDA1 Family of Barley Histone Deacetylases During Development and in Response to Jasmonic Acid
Published in Plant molecular biology reporter (01-03-2010)“…Epigenetic regulation of gene expression plays an important role in various aspects of eukaryotic development and is associated with modifications of chromatin…”
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Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease
Published in Human molecular genetics (12-02-2000)“…Polycystic kidney disease (ADPKD) is a condition with an autosomal dominant mode of inheritance and adult onset. Two forms of the disease, ADPKD1 and ADPKD2,…”
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A family with the branchio‐oto‐renal syndrome: clinical and genetic correlations
Published in Nephrology, dialysis, transplantation (01-06-2002)“…Background. The branchio‐oto‐renal (BOR) syndrome is an autosomal dominant disease characterized by hearing loss of early onset, preauricular pits, branchial…”
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Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families
Published in European journal of human genetics : EJHG (01-09-2001)“…The autosomal dominant form of polycystic kidney disease is a very frequent genetically heterogeneous inherited condition affecting approximately 1 : 1000…”
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Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families
Published in Human mutation (01-08-2000)“…Mutations in the PKD1 gene account for ∼85% of cases with autosomal dominant polycystic kidney disease (ADPKD1; MIM# 601313), which is considered one of the…”
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Familial homozygous hypercholesterolemia: effective long-term treatment with cascade double filtration plasmapheresis
Published in Blood purification (01-01-2001)“…Homozygous familial hypercholesterolemia (FH) is a rare disease with an incidence of 1 in 1 million births. It is characterized by blood cholesterol levels…”
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Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1
Published in Molecular and cellular probes (01-12-2001)“…Autosomal dominant medullary cystic kidney disease (ADMCKD) is an adult-onset heterogeneous genetic nephropathy characterized by salt wasting and end-stage…”
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Evidence for association of endothelial cell nitric oxide synthase gene polymorphism with earlier progression to end-stage renal disease in a cohort of Hellens from Greece and Cyprus
Published in Genetic testing (2004)“…Nitric oxide (NO) is thought to be an important factor in the deterioration of renal function. A variable-number tandem 27-bp repeat in intron 4 of the…”
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