Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences: Recent submissions
Now showing items 561-580 of 677
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Somatic cell mosaicism: Another source of phenotypic heterogeneity in nuclear families with osteogenesis imperfecta
(1993)Mutations in the genes coding for the proα1 and proα2 chains of type I procollagen have been found in many patients with osteogenesis imperfecta (OI), a heritable disorder of connective tissue. The severity of the disease ...
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A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the α1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen
(1989)A fraction of the proα1(I) and proα2(I) chains in type I procollagen synthesized by the fibroblasts from a proband with a lethal variant of osteogenesis imperfecta were overmodified by posttranslational reactions. After ...
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Familial Mediterranean Fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus
(2002)Familial Mediterranean Fever (FMF) is an autosomal recessive disease of high prevalence within Mediterranean countries and particularly common in four ethnic populations: Arabs, non-Ashkenazi Jews, Armenians, and Turks. ...
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Phenotypic heterogeneity in osteogenesis imperfecta: The mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for α1-glycine 904 in a type I procollagen gene (COL1A1)
(1990)A proband with a lethal variant of osteogenesis imperfecta (OI) has been shown to have, in one allele in a gene for type I procollagen (COL1A1), a single base mutation that converted the codon for α1-glycine 904 to a codon ...
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The identification and characterization of KRAB-domain-containing zinc finger proteins
(1992)The zinc finger motif is a highly conserved tandemly repeated sequence of 28-30 amino acids that was first identified in transcription factor TFIIIA from Xenopus laevis. Subsequently, similar motifs were found and characterized ...
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ΔF508 cystic fibrosis mutation appears very infrequently in the Greek‐Cypriot community of Cyprus
(1992)
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C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in cyprus: Clinical and molecular findings in 21 families
(2013)Microscopic haematuria is the presenting symptom of several conditions, either heritable or acquired. A well-recognized familial condition is Alport syndrome, either of X-linked or autosomal recessive inheritance, as well ...
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Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families
(1996)Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. ...
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Cystic diseases of the kidney molecular biology and genetics
(2010)Context.-Cystic diseases of the kidney are a very heterogeneous group of renal inherited conditions, with more than 33 genes involved and encompassing Xlinked, autosomal dominant, and autosomal recessive inheritance. ...
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Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene
(1996)Zinc finger genes represent a large multigene family present in mammalian and other genomes. A subgroup of these genes contain a conserved motif, the KRAB domain, at the NH2-terminal region, which was recently shown to ...
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Caspase-independent pathways of programmed cell death: The unraveling of new targets of cancer therapy?
(2009)In the past few years, accumulating evidence in the literature supports the existence of pathways of caspase-independent programmed cell death (CI-PCD). These pathways are likely to be acting as 'death backup systems' that ...
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Thin basement membrane nephropathy: Is there genetic predisposition to more severe disease?
(2009)
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Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual
(1996)During the past few years we have been testing the hypothesis that Cyprus may have been spared many severe cystic fibrosis (CF) cases but not cystic fibrosis transmembrane conductance regulator (CFTR) mutations. We have ...
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Mutations of the human polycystic kidney disease 2 (PKD2) gene
(2001)Autosomal dominant polycystic kidney disease (ADPKD) is an inherited nephropathy, usually of late onset (onset between third to seventh decade), primarily characterized by the formation of fluid-filled cysts in the kidneys. ...
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Involvement of host DNA gyrase in growth of bacteriophage T5
(1986)Bacteriophage T5 did not grow at the nonpermissive temperature of 42°C in Escherichia coli carrying a temperature-sensitive mutation in gyrB [gyrB(Ts)], but it did grow in gyrA(Ts) mutants at 42°C. These findings indicate ...
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In vivo high-resolution magic angle spinning magnetic and electron paramagnetic resonance spectroscopic analysis of mitochondria-targeted peptide in Drosophila melanogaster with trauma-induced thoracic injury
(2016)Trauma is the most common cause of mortality among individuals aged between 1 and 44 years and the third leading cause of mortality overall in the US. In this study, we examined the effects of trauma on the expression of ...
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The soy isoflavone daidzein improves the capacity of tamoxifen to prevent mammary tumours
(2005)The aim of this study was to determine how the efficacy of tamoxifen is affected when combined with soy isoflavones. To address this, female Sprague-Dawley rats were placed on diets supplemented with tamoxifen, genistein, ...