Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0162871 (abdominal aortic aneurysm)
 8,664 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cytochrome c552 is the terminal component of the formate-dependent nitrite reduction pathway of Escherichia coli. In addition to four 'typical' haem-binding motifs, CXXCH-, characteristic of c-type cytochromes, the N-terminal region of NrfA includes a motif, CWSCK. Peptides generated by digesting the cytochrome from wild-type bacteria with cyanogen bromide followed by trypsin were analysed by on-line HPLC MS/MS in parent scanning mode. A strong signal at mass 619, corresponding to haem, was generated by fragmentation of a peptide of mass 1312 that included the sequence CWSCK. Neither this signal nor the haem-containing peptide of mass 1312 was detected in parallel experiments with cytochrome that had been purified from a transformant unable to synthesize NrfE, NrfF and NrfG: this is consistent with our previous report that NrfE and NrfG (but not NrfF) are essential for formate-dependent nitrite reduction. Redox titrations clearly revealed the presence of high and low mid-point potential redox centres. The best fit to the experimental data is for three n=1 components with mid-point redox potentials (pH 7.0) of +45 mV (21% of the total absorbance change), -90 mV (36% of the total) and -210mV (43% of the total). Plasmids in which the lysine codon of the cysteine-lysine motif, AAA, was changed to the histidine codon CAT (to create a fifth 'typical' haem c-binding motif), or to the isoleucine and leucine codons, ATT and CTT, were unable to transform a Nrf deletion mutant to Nrf+ or to restore formate-dependent nitrite reduction to the transformants. The presence of a 50 kDa periplasmic c-type cytochrome was confirmed by staining proteins separated by SDS-PAGE for covalently bound haem, but the methyl-viologen-dependent nitrite reductase activities associated with the mutated proteins, although still detectable, were far lower than that of the native protein. The combined data establish not only that there is a haem group bound covalently to the cysteine-lysine motif of cytochrome c552 but also that one or more products of the last three genes of the nrf operon are essential for the haem ligation to this motif.
 ...
PMID:Involvement of products of the nrfEFG genes in the covalent attachment of haem c to a novel cysteine-lysine motif in the cytochrome c552 nitrite reductase from Escherichia coli. 959 8

A family with hereditary factor X deficiency is presented. One member, a 25-year-old man, showed a mild bleeding tendency. His factor X activity (extrinsic: 56%; intrinsic: 55%; Russell's viper venom: 57%) and his level of circulating factor X antigen (55% of normal) were markedly reduced. Analysis of his factor X gene revealed a single point mutation within exon II resulting in the substitution of +25 Gla (GAA) by Lys (AAA). The mutation was determined by gene analysis to be heterozygous in this patient, his mother and one of his brothers. Clotting assays of factor X purified from the plasma of the index patient revealed an activity of 89% of normal upon activation with Russell's viper venom, 77% of normal in the intrinsic and 81% of normal in the extrinsic coagulation pathway. The mutation responsible for the substitution of Lys for Gla+25 was introduced into an expression plasmid containing a wild type factor X cDNA and expressed in a mammalian cell line. Factor X antigen levels in the cell lysates and in the supernatant were identical in the mutant and wild type constructs. The specific activity of the factor X expressed from the mutant construct was 3% compared with the wild type construct. These data demonstrate that the substitution of Lys for Gla+25 results not only in a reduced level of factor X in the affected family members, but also in a substantial loss of specific factor X activity.
 ...
PMID:Factor X Frankfurt I: molecular and functional characterization of a hereditary factor X deficiency (Gla+25 to Lys). 962 12

A gene encoding a cell division control protein from the hyperthermophilic archaeon Pyrococcus kodakaraensis KOD1, Pk-cdcA, was cloned and sequenced. The Pk-cdcA gene is composed of 2508 nucleotides, encoding a protein of 835 amino acids with a molecular mass of 93,666 Da. Pk-CdcA has a typical Walker-type ATPase motif and was classified as a new member of the CDC48/VCP subfamily of so-called AAA proteins. In addition, Pk-CdcA possesses a unique region composed of charged amino acids, which is not observed in other homologs from Archaea. Transcription of the gene was analyzed by primer extension and Northern analyses, revealing that Pk-cdcA is transcribed from a site 77 bases upstream of the initiation codon. Pk-CdcA and its deletion mutant Pk-CdcAdelta63, which lacks the unique inserted region, were expressed in Escherichia coli cells as His-tagged fusion proteins and purified. Both Pk-CdcA and Pk-CdcAdelta63 possess an ATPase activity, as do other CDC48/VCP proteins. However, Pk-CdcAdelta63 showed a higher level of ATPase activity and greater thermostability than Pk-CdcA. Furthermore, Pk-CdcAdelta63 has a higher Vmax value than wild type, even though the Km was unchanged. These observations indicated that the inserted region affects enzyme stability and activity. In order to investigate intracellular expression levels of Pk-CdcA, Western analysis was performed using anti-Pk-CdcA antisera obtained from immunized BALB/C mice. Equal levels of Pk-CdcA expression were observed during exponential and stationary phases. Growth phase-specific fragmentation of Pk-CdcA was found in stationary-phase cells.
 ...
PMID:Pk-cdcA encodes a CDC48/VCP homolog in the hyperthermophilic archaeon Pyrococcus kodakaraensis KOD1: transcriptional and enzymatic characterization. 1058 45

A 55-year-old man with an abdominal aortic aneurysm presented with fever and abdominal pain 3 weeks after an episode of Salmonella gastroenteritis. His symptoms persisted despite antimicrobial therapy. Two abdominal computed tomography (CT) scans showed no evidence of aortitis. His abdominal pain worsened and further investigation including a third CT scan demonstrated a leaking aortic aneurysm. The wall of the aorta was shown to contain Gram-negative bacilli. This case illustrates the difficulty in diagnosing bacterial aortitis.
 ...
PMID:A patient with fever and an abdominal aortic aneurysm. 1064 29

Juvenile polyposis is an uncommon condition characterized by the development of multiple (usually more than 5) juvenile polyps in the gastrointestinal tract, especially in the colon. This disease usually occurs during childhood, and is inherited in an autosomal dominant fashion. It has been suggested that the dpc4 (deleted in pancreatic carcinoma, locus 4) gene, which is located on chromosome 18q21.1, might cause juvenile polyposis. The dpc4 (smad4) gene is a candidate tumor-suppressor gene and may play a role in the TGF-beta-signaling pathway. To confirm the idea that alterations of the dpc4 gene may result in juvenile polyposis, we screened 5 Korean juvenile-polyposis patients by PCR-SSCP (single-strand conformation polymorphism) analysis and bi-directional sequencing. There were germline mutations of the dpc4 gene in 3 out of the 5 patients: 2 had a genetic alteration in exon 9 and the third had a mutation in exon 8. These germline mutations occurred in the C-terminus of the dpc4 gene, similar to most published mutations. One patient exhibited a non-sense mutation (codon 388), which changed a glutamine codon (CAG) to a stop codon (TAG). The second patient harbored a mis-sense mutation (codon 390), causing a non-conservative amino-acid change <glutamate (GAA) to lysine (AAA)>. The third patient had a mis-sense mutation in exon 8 (codon 361), which altered an arginine codon (CGC) into a histidine codon (CAC).
 ...
PMID:Germline mutations of the dpc4 gene in Korean juvenile polyposis patients. 1079 67

Two experiments were conducted to determine the effects of essential amino acid deficiencies on several immunological variables in male broiler chickens. Essential amino acids were classified into five groups as follows: S-containing amino acids (SAA; methionine + cysteine), aromatic amino acids (AAA; phenylalanine + tyrosine), branched-chain amino acids (BCAA; isoleucine + leucine + valine), arginine plus lysine (Arg + Lys), and other essential amino acids (OEAA; glycine + serine + histidine + threonine + tryptophan). Chickens were fed ad libitum from 10 to 24 d of age on a control diet or amino-acid-deficient diets formulated to contain each amino acid group at 50% and 16% (Expt 1) at 50% (Expt 2) of the recommended requirements (National Research Council, 1984). Effects of feed consumption on immune responses were also considered by setting pair-feeding (Expt 1) or restricted-feeding (Expt 2) groups fed on the control diet. In Expt 1, changes in lymphoid organ weights varied with the type and degree of deficiency of amino acid groups, with BCAA deficiency markedly decreasing weights. The haemagglutinin titres against sheep erythrocytes did not change in any amino-acid-deficient chickens except that the titres were lower in chickens fed on the 50%- and 16%-BCAA diets as compared with their pair-fed counterparts. In Expt 2, the splenocyte proliferative response to concanavalin A was higher in the chickens fed on the BCAA- and Arg + Lys-deficient diets and lower in chickens fed on the SAA- and AAA-deficient diets than the control chickens, independent of feed consumption. These results suggest that the effects of specific amino acid deficiencies on immune responses cannot be generalized, and that BCAA have the greatest potential to modulate immune responses among the amino acids in chickens.
 ...
PMID:Effects of dietary essential amino acid deficiencies on immunological variables in broiler chickens. 1085 3

E. coli 1-phosphate mannitol dehydrogenase gene (mtl-D) was cloned using PCR method. Sequence analysis showed that the gene was the same as the published one except that codon CAT at position 416 was replaced by AAA and resulted in a Lys residue instead of His. This gene (mtl-D) was inserted in a binary vector and transformed into populas via agrobacteria. Several transgenic plants grow very well in 0.6% NaCl while controls can not survive even in 0.4% NaCl. PCR analysis and Northern blotting indicated that foreign gene was integrated into the genome of transgenic plant and transcribed successfully.
 ...
PMID:[Cloning of E. coli mtl-D gene and its expression in transgenic Balizhuangyang (Populus)]. 1097 89

We have determined the cDNA sequence and exon/intron structure of the human CLPX gene encoding a human ortholog of the E. coli ClpX chaperone and protease subunit. The CLPX gene comprises 14 exons and encodes a 633-amino acid-long precursor polypeptide. The polypeptide contains an N-terminal putative mitochondrial transit peptide, and expression of a full-length ClpX cDNA tagged at its C-terminus (Myc-His) shows that the polypeptide is transported into mitochondria. FISH analysis localized the CLPX gene to human Chromosome (Chr) 15q22.1-22.32. This localization was refined by radiation hybrid mapping placing the CLPX gene 4.6 cR distal to D15S159. Murine ClpX cDNA was sequenced, and the mouse Clpx locus was mapped to a position between 31 and 42 cM offset from the centromere on mouse Chr 9. Experimental observations indicate the presence of a pseudogene in the mouse genome and sequence variability between mouse ClpX cDNAs from different strains. Alignment of the human and mouse ClpX amino acid sequences with ClpX sequences from other organisms shows that they display the typical modular organization of domains with one AAA(+) domain common to a large group of ATPases and several other domains conserved in ClpX orthologs linked by non-conserved sequences. Notably, a C-4 zinc finger type motif is recognized in human and mouse ClpX. This motif of so far unknown function is present only in a subset of the known ClpX sequences.
 ...
PMID:Human and mouse mitochondrial orthologs of bacterial ClpX. 1100 6

Aortoenteric fistulation (AEF) is a well-documented late complication of open abdominal aortic aneurysm (AAA) repair, occurring in between 0.4% and 4% of cases. In the absence of an anastomosis, AEF is likely to be rare after endovascular aneurysm repair (EVAR) and has only recently been described in the literature as a result of mechanical stent failure or migration. We present the case of a 61-year-old man who underwent EVAR for an AAA with a "nonspecific" periaortic inflammatory mass. Six months postoperatively, an AEF developed, presenting with metastatic sepsis followed by septic infective thromboembolization to his right leg, and amputation was necessary. His stent was well positioned and mechanically intact. We emphasize the need for vigilance about the risk of AEF when adopting an endovascular approach to repair the AAA with a nonspecific periaortic inflammatory mass and highlight the need for awareness about the unusual septic manifestations of AEF.
 ...
PMID:Endovascular repair of an inflammatory abdominal aortic aneurysm complicated by aortoduodenal fistulation with an unusual presentation. 1129 45

A full-length cDNA clone, named FsA1, has been isolated from a cDNA library constructed using mRNA from Fagus sylvatica L. dormant seeds (beechnuts). This clone shows high identity with members of the AAA superfamily, for ATPases Associated with a variety of cellular Activities, encoding subunit 8 of the 26S proteasome or Tat binding proteins (TBPs). Direct biochemical evidence supporting Mg(2+)-dependent ATPase activity has been obtained by expressing FsA1 in Escherichia coli as histidine tag fusion protein and using the recombinant protein in the stimulation of ATP hydrolysis. Analysis of the expression of FsA1 transcripts during stratification shows an increase in the presence of gibberellic acid (GA(3)), a treatment that proved to be efficient in breaking dormancy and increasing germination percentages of these seeds, while the addition of paclobutrazol, a well-known GA biosynthesis inhibitor, greatly reduces the expression of the clone. A low level of expression was maintained in the stratification control in H(2)O, where dormancy is slowly released. These results show that this new member of the AAA-ATPase family is up-regulated by GAs and its expression correlated with the germination arise in Fagus sylvatica seeds. The possible function of this protein during the transition from dormancy to germination is discussed.
 ...
PMID:GA(3)-induced expression of a new functional AAA-ATPase (FsA1) is correlated with the onset of germination in Fagus sylvatica L. seeds (beechnuts). 1182 19


<< Previous 1 2 3 4 5 6 7 8 9 Next >>