Search results for "Arid"
showing 10 items of 1382 documents
Glycosylation deficiency at either one of the two glycan attachment sites of cellular prion protein preserves susceptibility to bovine spongiform enc…
2004
The conversion into abnormally folded prion protein (PrP) plays a key role in prion diseases. PrP(C) carries two N-linked glycan chains at amino acid residues 180 and 196 (mouse). Previous in vitro data indicated that the conversion process may not require glycosylation of PrP. However, it is conceivable that these glycans function as intermolecular binding sites during the de novo infection of cells on susceptible organisms and/or play a role for the interaction of both PrP isoforms. Such receptor-like properties could contribute to the formation of specific prion strains. However, in earlier studies, mutations at the glycosylation sites of PrP led to intracellular trafficking abnormalitie…
TGF-beta1 in liver fibrosis: an inducible transgenic mouse model to study liver fibrogenesis.
1999
Transforming growth factor-beta1 (TGF-beta1) is a powerful stimulus for collagen formation in vitro. To determine the in vivo effects of TGF-beta1 on liver fibrogenesis, we generated transgenic mice overexpressing a fusion gene [C-reactive protein (CRP)/TGF-beta1] consisting of the cDNA coding for an activated form of TGF-beta1 under the control of the regulatory elements of the inducible human CRP gene promoter. Two transgenic lines were generated with liver-specific overexpression of mature TGF-beta1. After induction of the acute phase response (15 h) with lipopolysaccharide (100 microgram ip), plasma TGF-beta1 levels reached600 ng/ml in transgenic animals, which is100 times above normal …
Dysbiosis and zonulin upregulation alter gut epithelial and vascular barriers in patients with ankylosing spondylitis
2017
BackgroundDysbiosis has been recently demonstrated in patients with ankylosing spondylitis (AS) but its implications in the modulation of intestinal immune responses have never been studied. The aim of this study was to investigate the role of ileal bacteria in modulating local and systemic immune responses in AS.MethodsIleal biopsies were obtained from 50 HLA-B27+ patients with AS and 20 normal subjects. Silver stain was used to visualise bacteria. Ileal expression of tight and adherens junction proteins was investigated by TaqMan real-time (RT)-PCR and immunohistochemistry. Serum levels of lipopolysaccharide (LPS), LPS-binding protein (LPS-BP), intestinal fatty acid-BP (iFABP) and zonulin…
The Stock Genetic Structure of Two Sparidae Species, Diplodus vulgaris and Lithognathus mormyrus, in the Mediterranean Sea.
2003
Abstract Polyacrilamide gel electrophoresis (PAGE) of allozymes was used to investigate the intraspecies genetic variation and the genetic stock structure of Diplodus vulgaris and Lithognathus mormyrus captured from eight localities in the Mediterranean Sea. Twenty-two and 20 putative enzyme-coding loci were examined, respectively, in D. vulgaris and L. mormyrus . Polymorphic loci at the 95% level were used to assess the allozyme variability in D. vulgaris ( AAT-2 ∗ , EST-1 ∗ , GLDH ∗ , PEPB-2 ∗ , PGI-2 ∗ , PGM ∗ , SDH ∗ ) and L. mormyrus ( AAT-2 ∗ , EST-1 ∗ , GLDH ∗ , MDH-2 ∗ , PGI-2 ∗ , PGM ∗ ). The proportion of polymorphic loci in both species ranged from 0.31 ( D. vulgaris ) to 0.30 ( …
Next generation sequencing of HCC from European and Asian HCC cohorts. Back to p53 and Wnt/β-catenin
2013
Hepatocellular carcinoma (HCC) is the most common pri- mary liver malignancy. Here, we performed high-resolution copy- number analysis on 125 HCC tumors and whole-exome sequencing on 24 of these tumors. We identified 135 homozygous deletions and 994 somatic mutations of genes with predicted functional conse- quences. We found new recurrent alterations in four genes (ARID1A, RPS6KA3, NFE2L2 and IRF2) not previously described in HCC. Func- tional analyses showed tumor suppressor properties for IRF2, whose inactivation, exclusively found in hepatitis B virus (HBV)-related tumors, led to impaired TP53 function. In contrast, inactivation of chromatin remodelers was frequent and predominant in al…
The clinical spectrum of alpha-L-iduronidase deficiency.
1985
We present five patients with alpha-L-iduronidase deficiency who do not have the typical Hurler or Scheie phenotypes; they are compared to 28 similarly atypical cases from the literature. Phenotypic differences are pointed out and intrafamilial similarities stressed. Among the various possible explanations for this situation, the existence of genetic compounds seems acceptable for some of the cases, but others seem to be caused by different mutations. The elucidation of these alternative possibilities from recent biochemical research is discussed.
Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene
1993
A number of mutations in the X-chromosomal human iduronate-2-sulphatase gene have now been identified as the primary genetic defect leading to the clinical condition known as Hunter syndrome or mucopolysaccharidosis type II. The mutations that are tabulated include different deletions, splice-site and point mutations. From the group of 319 patients thus far studied by Southern analysis, 14 have a full deletion of the gene and 48 have a partial deletion or other gross rearrangements. All patients with full deletions or gross rearrangements have severe clinical presentations. Twenty-nine different "small" mutations have so far been characterised in a total of 32 patients. These include 4 nons…
123 MOLECULAR GENETIC ANALYSIS IN HUNTER DISEASE
1991
Clinical and biochemical studies have revealed a great phenotypic variability in mucopolysaccharidosis type II (Hunter disease), probably due to different mutations in the IDS gene that has been localized in Xq28. Using a cDNA probe containing almost the entire coding region of the human IDS gene, we performed a molecular analysis on 7 patients with Hunter disease. In one patient, a complete deletion of the IDS coding sequences was found. Another patient had structural alterations of the IDS gene including a partial deletion. In 5 patients, however, after restriction digestion of the DNA by PstI and TaqI and Southern hybridization with the IDS cDNA, the audiographic patterns obtained were s…
Palaeoenvironmental significance of the mammalian faunas of Italy since the Pliocene
2002
The evolution of mammalian communities is a significant tool for reconstructing past environments and climate. In this paper, a palaeoecological and palaeoenvironmental reconstruction based on the study of the Italian mammal faunas ranging from Middle Pliocene to the Holocene is presented using the cenogram method and quantification of temperatures based on arvicolid species richness. These analyses reveal open and arid conditions during glacial periods and less open and more humid conditions during interglacials, with some differences between north and central–south Italy. Northern and Southern communities reflect similar trends in the evolution of palaeoenvironments and in the variation o…
Climatological characteristics of the tropics in China: climate classification schemes between German scientists and Huang Bingwei
2003
Reviewing some important German scientists who have developed climatic regionalization schemes either on a global or Chinese scale, their various definitions of the tropical climate characteristics in China are discussed and compared with Huang Bingwei’s climate classification scheme and the identification of the tropical climate therein. It can be seen that, due to different methodological approaches of the climatic regionalization schemes, the definitions of the tropics vary and hence also their spatial distribution in China. However, it is found that the tropical climate type occupies only a peripheral part of southern China, though it firmly represents a distinctive type of climate that…