Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:3.1.3.1 (alkaline phosphatase)
47,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The properties of a protein-kinase-A(PKA)-activated Cl(-)-conductive pathway(s) in alkaline phosphatase-enriched microsomes from the rat inner medulla (IMV) were investigated. Transcripts of cystic fibrosis transmembrane regulator (CFTR) were detected by reverse transcription/polymerase analysis of total RNA from the inner medulla, while immunoblot analysis using anti-CFTR antibodies detected a 170-kDa protein in the IMV. The PKA Cl(-)-conductive pathway(s) was studied by measuring the rate of valinomycin-induced microsomal swelling by light scattering. PKA increased the rate of valinomycin-induced swelling of vesicles consistent with the presence of Cl(-)-conductive pathway(s). The pharmacological properties and anion selectivity of the PKA-activated Cl(-)-conductive pathway(s) were similar to those of the CFTR Cl(-) channel. Our results show that a CFTR Cl(-) channel and possibly another cAMP-activated pathway(s) may participate in Cl(-) secretion in the rat inner medulla.
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PMID:Properties of a Cl(-)-conductive pathway(s) in microsomes from rat kidney inner medulla. Involvement of cystic fibrosis transmembrane regulator protein. 892 36

It is stated that the ileocecal valve delays the passage of ileal contents into the cecum and acts as a barrier against reflux and ascension of colonic bacterial flora into the small bowel: its resection may lead to bacterial colonization of the ileum and to abnormalities of intestinal motility, transit and absorption. In this study twenty individuals subjected in pediatric age (1 day to 11 years) to ileocecal resection have been evaluated from 2 to 19 years after surgery. Three patients underwent limited ileocecal resection, in four this was associated with a significant ileal resection, in five with extensive right colon resection and in eight with extensive ileal and right colon resection. Growth, stool habit, hematology and serum biochemistry were examined; all patients also underwent abdominal ultrasonography. In all body weight and height were within normal limits; seven had moderate diarrhea up to 18 months after surgery and two who required extensive intestinal resection (40 and 30 cm of small bowel left) had diarrhea until about 36 months after surgery: now all of them have daily fecal evacuation. Hematological, biochemical, urinary and fecal studies proved normal except in one treated with TPN who presented transaminases slightly increased and in three suffering from mucoviscidosis in whom steatorrhea with moderate alterations of fats and elevation of alkaline phosphatase and transaminases were present. Urinary and gall stones were not seen in anyone. In conclusion from this study it can be postulated that removal of ileocecal valve can be done safely in children.
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PMID:[A follow-up study in individuals subjected to ileo-cecal resection in infancy and childhood]. 899 79

One hundred seventy two consecutive cases of female breast pathology have been intraoperatively processed by frozen sections (FS) in combination with aspecific alkaline phosphatase (AAF) histochemical evaluation. The corresponding histology on permanent embedded tissues (ET) was compared with both these techniques. The related theoretical and practical methodological aspects are presented and discussed. The consultations concerned the following histopathological types (WHO terminology): 136 malignant epithelial tumours(intraductal carcinoma: 11; invasive ductal carcinoma: 100; invasive lobular carcinoma: 8; medullary carcinoma: 3; mucinous carcinoma: 8; papillary carcinoma: 3; tubular carcinoma: 2); one cystosarcoma phyllodes; 19 benign tumours; 15 mammary dysplasias (fibrocystic disease); one tumour-like lesion(hamartoma); one fibromatous lesion. In terms of concordance/discordance between FS and ET diagnoses no false positive cases and only one false negative resulted. The diagnosis was deferred in 18 circumstances (10,5%). The AAF reaction in 64/153 (41,8%) cases (correctly interpreted on FS) displayed more histological evidence with special reference to the detection of the myoepithelial cells. The morphological implementation was particularly relevant as far as the differentiation between intraductal and microinvasive carcinoma, carcinomatous and papillomatous papillary proliferation, carcinomatous and non carcinomatous tubular structures, pseudocarcinomatous (florid and/or sclerosing) dysplasia and carcinoma is concerned. Analogously in 12/17 (70,6%) comparable deferred diagnoses as well as in the single false negative case the interpretation could have been correctly stated intraoperatively. The normal and pathological features as disclosed by the AAF reaction have been analytically examined. The AAF procedure seems to be a possible relevant tool in order to improve the classical FS performance also in respect to the increasingly systematic, precocious and conservative approach of the modern breast surgery.
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PMID:[Measurement of aspecific alkaline phosphatase in the intraoperative histological examination of the breast]. 931 32

We describe a boy aged nine months with infantile cortical hyperostosis in association with cystic fibrosis. Symmetrical periosteal thickening was present in the clavicles, ribs, femora, humeri, ulnae and radii. Periosteal hyperostosis of the humerus developed in association with an increase in the levels of serum alkaline phosphatase a month before the appearance of hyperirritability and soft tissue swelling about the hip joints. The condition gradually resolved during the following eight months.
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PMID:Radiological and laboratory features of infantile cortical hyperostosis. A case report. 979 19

We determined optimum conditions for delivering DNA to transformed human bronchial epithelial cells expressing wild-type (BEAS) or abnormal (2CF) cystic fibrosis transmembrane conductance regulator (CFTR) using cationic liposomes (Lipofectin, [N-(N,N-dimethylaminoethane)carbamyl] cholesterol[DC-Chol]/dioleoylphosphatidylethanolamine[DOPE], or LipofectAMINE) and reporter genes which measured overall transgene expression (luciferase) or the fraction of cells transfected (heat-stable alkaline phosphatase). All liposomes showed dose-related toxicity. Optimal liposome and lipid: DNA ratios were different for BEAS than for 2CF cells. For all 3 liposome preparations, small particle size and net cationic charge related to transfection efficiency. Both LipofectAMINE and DC-Chol/DOPE transfected a maximum of 3% of BEAS cells, but luciferase expression could be increased without increasing the fraction of cells transfected. LipofectAMINE transfected a maximum of 6% of 2CF cells, and luciferase expression could be increased with no further increase in fraction of transfected cells. DC-Chol/DOPE transfected over 12% of 2CF cells with relatively small increases in luciferase expression. We conclude that an optimal cationic liposome and lipid: DNA ratio for transfecting bronchial epithelial cells depends on: (1) small particle size and net cationic charge, (2) whether the cells have the cystic fibrosis defect, and (3) whether the desired outcome is transfection of the maximum fraction of the cells or maximum total expression of the transgene.
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PMID:Optimization of cationic liposome-mediated gene transfer to human bronchial epithelial cells expressing wild-type or abnormal cystic fibrosis transmembrane conductance regulator (CFTR). 1035 50

Background: Chemiluminescence detection systems are rapidly gaining popularity as safer alternatives to isotopic methods in molecular diagnostics with equal sensitivity and specificity. In addition, they offer versatility of detection because of the availability of different haptens for labeling the probes, the antihapten antibodies conjugated with either alkaline phosphatase (AP) or horseradish peroxidase (HRP), and their respective chemiluminescent substrates. A novel dual chemiluminescent substrate (AP and HRP based) and probe systems to distinguish genotypes of cystic fibrosis DeltaF(508) mutation are described. Methods and Results: Two methodologies have been formulated to identify positively the genotypes of the cystic fibrosis DeltaF(508) mutation. In method 1, a pair of oligonucleotides designed to anneal to the fanking regions of DeltaF(508) mutation are differentially labeled with the hapten biotin or fluorescein and ligated using the template DNA of wild-type (N/N), heterozygous (N/DeltaF(508)), and homozygous (DeltaF(508)/DeltaF(508)) genotypes. The ligated product containing both labels is detected by first binding with avidin-HRP and anti-fluorescein-AP followed by reaction with the dual substrate. As expected, the ligation products are detected only in n/DeltaF(508) and DeltaF(508)/DeltaF(508) genotypes but not in N/N, where the ligation is precluded by the presence of three intervening nucleotides. In method 2, the three genotypes are hybridized on a membrane simultaneously with uniquely labeled (biotin or digoxigenin) oligonucleotides each designed to bind either the normal or the mutant allele. On treatment with HRP- and AP-conjugated antibodies followed by reaction with the dual substrate, only the band from N/DeltaF(508) genotype emitted a strong signal because of the binding of both oligonucleotides. Conclusions: The ligation and hybridization methods in conjunction with the dual substrate can detect and differentiate the genotypes with the DeltaF(508) mutation. These formats may be valuable for distinguishing normal individuals from carriers in population screening and fetuses that are heterozygous, from those that are homozygous for cystic fibrosis DeltaF(508) in prenatal and neonatal diagnosis.
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PMID:Novel Chemiluminescent Substrate and Probe Systems for the Identification of CFDeltaF508 Genotypes. 1046 98

The study concerns the maltase, saccharase, lactase and alkaline phosphatase activity in small intestinal biopsy specimens from 61 consecutively admitted, untreated, Caucasian cystic fibrosis patients. A group of 319 age matched controls admitted during the same time period for undefined gastrointestinal or nutritional disorders acted as the controls. In order to eliminate morphological damage as a confounding factor, the enzyme activities were studied in small intestinal biopsy specimens having both normal stereomicroscopic and histological features. It was shown that neither maltase nor saccharase activity was different in the two groups, in contrast to lactase and alkaline phophatase activity, that was significantly lower in cystic fibrosis patients. The differences could not be explained by the nutritional status as judged by the body mass index. Lactase activity is known to be easily affected by numerous enteropathies. As the information on alkaline phosphatase activity is limited, the low activity is discussed in more detail. Taking into account the literature data, the low alkaline phosphatase activity is tentatively attributed either to enhanced release from the brush border or to the faulty handling of alkaline phophatase protein in the post-golgi compartments secondary to the accumulation of incorrectly glycosylated CFTR in the same cell structures.
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PMID:Small intestinal brush border enzymes in cystic fibrosis. 1054 91

Ursodeoxycholic acid is a hydrophilic bile acid that under normal circumstances represents a small fraction of the bile acid pool in humans. It is effective in dissolving cholesterol gallstones in appropriately selected patients. Ursodeoxycholic acid improves serum alkaline phosphatase and aminotransferase levels in primary biliary cirrhosis, but its effects on rates of liver transplantation and death are less certain. Ursodeoxycholic acid has had promising [corrected] effects in several other cholestatic liver diseases, such as cystic fibrosis and intrahepatic cholestasis of pregnancy, but data are too preliminary to make recommendations about its routine use in these conditions. Its effects are mediated by amelioration of damage to cell membranes caused by retained toxic bile acids. Ursodeoxycholic acid improves biliary secretion of bile acids, may improve bile flow, and it has immunomodulatory properties that may reduce immune-mediated liver damage. However, its use in the treatment of cholestatic liver disease remains uncertain pending additional randomized trials.
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PMID:Ursodeoxycholic acid therapy in hepatobiliary disease. 1078 81

Pseudomonas aeruginosa strains that cause chronic pulmonary infections in cystic fibrosis patients typically undergo mucoid conversion. The mucoid phenotype indicates alginate overproduction and is often due to defects in MucA, an antisigma factor that controls the activity of sigma-22 (AlgT [also called AlgU]), which is required for the activation of genes for alginate biosynthesis. In this study we hypothesized that mucoid conversion may be part of a larger response that activates genes other than those for alginate synthesis. To address this, a two-dimensional (2-D) gel analysis was employed to compare total proteins in strain PAO1 to those of its mucA22 derivative, PDO300, in order to identify protein levels enhanced by mucoid conversion. Six proteins that were clearly more abundant in the mucoid strain were observed. The amino termini of such proteins were determined and used to identify the gene products in the genomic database. Proteins involved in alginate biosynthesis were expected among these, and two (AlgA and AlgD) were identified. This result verified that the 2-D gel approach could identify gene products under sigma-22 control and upregulated by mucA mutation. Two other protein spots were also clearly upregulated in the mucA22 background, and these were identified as porin F (an outer membrane protein) and a homologue of DsbA (a disulfide bond isomerase). Single-copy gene fusions were constructed to test whether these proteins were enhanced in the mucoid strain due to increased transcription. The oprF-lacZ fusion showed little difference in levels of expression in the two strains. However, the dsbA-lacZ fusion showed two- to threefold higher expression in PDO300 than in PAO1, suggesting that its promoter was upregulated by the deregulation of sigma-22 activity. A dsbA-null mutant was constructed in PAO1 and shown to have defects predicted for a cell with reduced disulfide bond isomerase activity, namely, reduction in periplasmic alkaline phosphatase activity, increased sensitivity to dithiothreitol, reduced type IV pilin-mediated twitching motility, and reduced accumulation of extracellular proteases, including elastase. Although efficient secretion of elastase in the dsbA mutant was still demonstrable, the elastase produced appeared to be unstable, possibly as a result of mispaired disulfide bonds. Disruption of dsbA in the mucoid PDO300 background did not affect alginate production. Thus, even though dsbA is coregulated with mucoid conversion, it was not required for alginate production. This suggests that mucA mutation, which deregulates sigma-22, results in a global response that includes other factors in addition to increasing the production of alginate.
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PMID:Proteome analysis of the effect of mucoid conversion on global protein expression in Pseudomonas aeruginosa strain PAO1 shows induction of the disulfide bond isomerase, dsbA. 1109 61

The striking similarities between microvillus inclusions (MIs) in enterocytes in microvillus inclusion disease (MID) and vacuolar apical compartment in tissue culture epithelial cells, led us to analyze endoscopic biopsies of duodenal mucosa of a patient after the samples were used for diagnostic procedures. Samples from another patient with an unrelated disease were used as controls. The MID enterocytes showed a decrease in the thickness of the apical F-actin layer, and normal microtubules. The immunofluorescence analysis of the distribution of five apical membrane markers (sucrase isomaltase, alkaline phosphatase, NHE-3 Na+/H+ exchanger, cGMP-dependent protein kinase, and cystic fibrosis trans-membrane conductance regulator), showed low levels of these proteins in their standard localization at the apical membrane as compared with normal duodenal epithelium processed in parallel. Instead, four of these markers were found in a diffuse distribution in the apical cytoplasm, below the terminal web (as indicated by co-localization with F-actin and cytokeratin 19), and in MIs as well. The basolateral protein Na(+)-K+ATPase, in contrast, was normally localized. These results support the hypothesis that MID may represent the first genetic defect affecting apical membrane traffic, possibly in a late step of apical exocytosis.
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PMID:Microvillus inclusion disease: a genetic defect affecting apical membrane protein traffic in intestinal epithelium. 1120 62


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