Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01034 (cystatin C)
 3,397 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

About 1800 sequences of gene promoters, enhancers and other types of regulatory elements (REG) have been statistically analysed for investigation of a role for enzymatic DNA methylation in prokaryotes, yeasts, plants, invertebrates, animal viruses, vertebrates and human. The frequencies and localizations of CG and CNG methylated sites and also the number of CG-->TG+CA transitions in different series of REGs have been studied. It was showed that the pro- and eukaryotic REGs with the exception of yeast and drosophila ones have higher CpG-suppression values than the main genome in the same species. About 40% of all the point substitutions in pro- and eukaryotic REGs were found in the CG and CNG methylated sites, that are "hot spots" for C-->T transitions. More than 30% of all analysed REGs have neither sites CG nor CNG and so they are not capable of methylation in vivo. The methylated sites have not been localized in any specific regions of promoters and other types of REGs nor in the flanking sequences of the same genes. Only part of the homological REG's sequences have CG and CNG methylated sites. Therefore the methylation of cytosine residues in any REGs may be not an obligatory condition for normal regulation of the REG activity in cells. Two main REG's families of different length were unexpectedly found in the study. The length of the first one is 9-12 n. and the second is 17-20 n. The families are about 60-80% of other REGs. The essential deficiency of cytosine residues and also triplets of CGG, CCG, CTG and CAG has been showed in the "sense" chain of the REGs. The chain has some abundance of TTG, CCA and CAA triplets. The REG's chains have a strong asymmetry in purine and pyrimidine contents and also in duplets TG and CA frequencies. It may be the result of different reparation effectivity of G-T pairs produced by 5-meC residues deamination in DNA complementary chains. Therefore cytosine methylation in REGs may strongly destabilize the structure, accelerate its divergence in evolution, and disturb the REGs binding with protein factors regulating activity of the genes. The results showed that a function of DNA enzymatic methylation may be hardly realized through the modification of gene regulatory elements.
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PMID:[Enzymatic methylation of regulatory elements in controlling the activity of genes from various groups of organisms]. 133 47

mRNA from a postmortem liver sample of a patient with classical phenylketonuria was examined using the chemical cleavage of mismatch (CCM) method to search for mutations in phenylalanine hydroxylase. Initial screening identified a heterozygous alteration in exon 2 which changed the encoded amino acid from phenylalanine (TTC) to leucine (TTG) at codon 39 and a polymorphism at codon 430 where the change from CTG to CTC did not alter the encoded leucine. Use of the CCM technique also revealed that the control reference clone differed from the published sequence by having a substitution of isoleucine (ATT) for methionine (ATG) at codon 276 and CAA rather than CAG as the codon for glutamine 232. By using the mRNA from the patient instead of the control as the source for the radiolabeled probe for the CCM technique, a second previously undetected alteration was identified in exon 10 where the change from TCA to CCA at codon 349 altered the amino acid from serine to arginine. Judicious choice of probes gives the CCM method the potential to detect close to 100% of single base mutations.
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PMID:Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples. 206 69

In this work 26 patients with schistosomal specific nephropathy were randomly distributed among three groups. Group I cases were given anti-schistosomal drugs (oxamniquine and praziquantel), group II cases were given anti-schistosomal drugs plus prednisolone, and group III cases were given anti-schistosomal drugs plus cyclosporine. The schistosomal specificity of kidney lesions was assessed by detecting the schistosomal specific antigens (CAA and CCA) and antibodies deposited in the renal glomeruli of these patients. Patients who had another etiologic cause which may explain their kidney disease were not admitted to this study. After initiation of the treatment, patients were followed up every other week in the outpatient clinic for 12 months. Follow-up showed complete remission of proteinuria in two cases in group II (duration of remission was 4 and 8 months) and in one case in group III (duration of remission was 6 months) but in none in group I. Partial remission was observed in one case in group I, in three cases in group II and in one case in group III. During the observation period, improvement in kidney function was observed in two cases in group II but deterioration in kidney function was observed in one case in group I and in one other case in group III. We conclude that in patients with schistosomal nephropathy, none of the tried therapeutic regimens produce regression of the disease if given to patients with established disease.
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PMID:A prospective, randomized therapeutic trial for schistosomal specific nephropathy. 251 42

One gene of the mouse proline-rich protein multigene family was cloned on a 3.6-kilobase pair EcoRI/BglII DNA fragment from a (partial) Sau3A bacteriophage library of CD-1 mouse chromosomal DNA. Phage harboring the gene were identified by plaque hybridization using 32P-labeled proline-rich protein cDNA inserts from clones pRP33 and pMP1 obtained from rat and mouse, respectively. The transcriptional unit includes three exonic sequences separated by 1434 base pairs (intron I) and 450 base pairs (intron II). The complete primary structure of the gene and the 5' and 3' flanking regions (3595 base pairs) were determined by the Maxam and Gilbert (Maxam, A.M., and Gilbert, W. (1980) Methods Enzymol. 65, 499-560) sequencing method. The DNA on the 5' side of exon I contains several sequences that may be involved in the induction and expression of this mouse gene. These sequences include putative regulatory sites such as those considered to be inducible by cAMP and steroids, Z-DNA and enhancer sequences and the expected TATAA and CAAT boxes. The mature protein coding region, exon II, is not interrupted with intron sequences. Exon III is located in the nontranslated region and contains the poly(A) addition site. The deduced amino acid sequence showed that the protein encoded by this gene contains 13 tandemly repeat regions, each 14 amino acids in length, with the prototype sequence PPPPGGPQPRPPQG. Each amino acid within the repeat has a favored codon. The consensus DNA sequence for each repeat is CCA CCA CCA CCA GGA GGC CCA CAG CCG AGA CCC CCT CAA GGC. The high degree of conservation of both nucleotide and amino acid sequences within the repeat region suggests that proline-rich protein genes likely evolved by gene duplication of a 42-base pair internal repeat.
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PMID:The structure and organization of a proline-rich protein gene of a mouse multigene family. 299 41

Twenty-one patients with schistosomal-specific nephropathy (18 nephrotics and three with non-nephrotic proteinuria) were given anti-schistosomal treatment (oxamniquine and praziquantel). The schistosomal specificity of the kidney lesions was assessed by the detection of schistosomal-specific antigens (CAA and CCA) and antibodies deposited in the renal glomeruli of these patients. After anti-schistosomal treatment, the patients were followed for clinical and laboratory changes occurring within 12 months. In addition, 15 patients had a second kidney biopsy and the histopathological and the immunopathological findings were compared with those observed in the first biopsy. Based on clinical, laboratory and histopathological evaluations, none of the patients subjected to the study showed regression of the kidney lesion following antischistosomal treatment; in fact three patients showed progression in their lesions, one of them reaching end-stage renal failure. The histopathology of these three cases was focal segmental glomerulosclerosis. Our data suggest that anti-schistosomal treatment in an established disease state, will not produce remission.
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PMID:Effect of anti-schistosomal treatment on schistosomal-specific nephropathy. 314 16

The gut-associated excretory antigen CAA (circulating anodic antigen) from adult Schistosoma mansoni worms was isolated by immunoaffinity chromatography. Amino acid analysis following alkaline borohydride treatment indicated that CAA is a glycoprotein, O-glycosylated at Thr. The primary structure of the released O-glycan moiety was investigated by one- and two-dimensional, homo- and heteronuclear 1H and 13C NMR spectroscopy. It was found that the major carbohydrate chains have a novel polysaccharide structure, consisting of a branched disaccharide repeating unit containing 2-acetamido-2-deoxy-beta-D- galactopyranose (beta-D-Galp-NAc) and beta-D-glucopyranuronic acid (beta-D-GlcpA). [formula: see text] The major antigenic character of CAA arises from this novel polysaccharide, which was shown to be an absolutely specific diagnostic marker in schistosomiasis. The cross-reactivity of CAA with anti-CCA (circulating cathodic antigen) monoclonal antibodies is caused by the presence of a small amount of O-linked CCA-poly-Lewis x carbohydrate chains on the CAA protein chain.
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PMID:The immunologically reactive part of immunopurified circulating anodic antigen from Schistosoma mansoni is a threonine-linked polysaccharide consisting of --> 6)-(beta-D-GlcpA-(1 --> 3))-beta-D-GalpNAc-(1 --> repeating units. 798 18

Direct sequencing using Taq enzyme was established for determination of point mutation of K-ras gene at codon 12 in 9 wax samples of pancreatic carcinoma (PC) and 1 of islet cell tumor. Point mutation occurred in 5 of 9 samples of PC and manifested two types of mutation, CCA-->CGA in 4 and CCA-->CAA in 1. The changes of amino acid included changes of glycine to alanine and glycine to valine. The causes of mutation frequency and the content differed from that of foreign reports were analysed in addition to the significance of determining point mutation of K-ras gene at codon 12.
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PMID:[Point mutation of K-ras gene in pancreatic carcinoma]. 806 25

For the detection of the circulating schistosome antigens CAA (circulating anodic antigen) and CCA (circulating cathodic antigen) in serum and urine samples of Schistosoma infected individuals, pretreatment of samples with trichloroacetic acid (TCA) is a standard procedure. In the present study several methods were evaluated in order to develop a more simple and rapid technique than the--especially for pretreatment of urine samples--laborious TCA technique. Optimal results were obtained with a method in which serum or urine samples were pretreated by a heat-incubation step (70 degrees C, 30 min) in an alkaline buffer (pH 9.6). In a comparison of the new technique with the TCA pretreatment, serum and urine samples of S. mansoni infected individuals from Zaire (n = 80) and of uninfected controls from The Netherlands (n = 208) were pretreated and assayed for CAA and CCA. Both pretreatment techniques showed similar sensitivities and specificities for CAA and CCA in serum, and CCA in urine. However, for the determination of CAA in urine the new technique performed significantly better, resulting in an increase of the sensitivity from 32 to 70% (titre determination).
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PMID:A simple technique to pretreat urine and serum samples for quantitation of schistosome circulating anodic and cathodic antigen. 820 96

Adult schistosome parasites, living in the blood vessels of their mammalian hosts, protect themselves against immune damage in a variety of ways. In addition to the tegument, the intestinal epithelium of the blood-feeding worms is permanently exposed to both the innate and the acquired immune system. In this study, we investigated whether the Schistosoma gut-associated antigens CAA and CCA (circulating anodic antigen and circulating cathodic antigen, respectively), which are excreted in relatively large quantities into the host's circulation, might play a role in evading complement attack. Of several complement components tested, only purified C1q showed significant binding to CAA, a negatively charged highly glycosylated glycoprotein. CCA, also highly glycosylated, but neutral or slightly positively charged, did not bind to C1q. CAA bound only to the collagen-like stalks of C1q and not to the globular heads. No detectable interaction of CAA with precursor human C1 was found and CAA did not induce activation of C1 in whole human serum as assessed by consumption of hemolytic C4 activity. Also CAA could not induce activation of precursor C1 in vitro. These results suggest that CAA behaves like a receptor for C1q, and might be involved in protecting the vulnerable schistosome gut against complement-mediated attack.
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PMID:Schistosoma mansoni circulating anodic antigen but not circulating cathodic antigen interacts with complement component C1q. 822 56

Circulating anodic and cathodic Schistosoma antigens (CAA and CCA) have been determined by enzyme immunoassays in serum and urine of 60 individuals infected with S. intercalatum in Equatorial Guinea. The median egg output was 29 eggs/g of faeces (range 3-840). The egg output strongly correlated with concentrations of serum CAA (p = 0.47) and urine CAA (p = 0.42) (P < 0.001 for both); the later 2 quantities were also correlated with each other (p = 0.44, P < 0.001). All except 3 infected individuals had detectable amounts of serum CAA and/or urine CCA, a sensitivity of 95% for these 2 tests combined. Urine CAA was detected in 43% of patients. Serum CCA was detected in all infected individuals; however, no significant correlation was obtained between serum CCA levels and egg output in the stools of individual patients. This is the first study to demonstrate CCA in specimens of patients infected with S. intercalatum. The detection of CCA in urine is a new, non-invasive diagnostic method for S. intercalatum infection.
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PMID:Quantitative determination of circulating anodic and cathodic antigens in serum and urine of individuals infected with Schistosoma intercalatum. 833 18


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