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1,175 Possible Causes for Gene, Isomerase

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  • Osteoporosis

    Gene ontology enrichment analysis and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses were conducted.[] […] downregulated Carbonic anhydrase 3, prohibitin, hemiferrin, far upstream element-binding protein [ 78 ] In osteoclasts: 3 proteins upregulated Vimentin, protein disulfide isomerase[] […] the TNFα gene are associated with postmenopausal osteoporosis susceptibility in some populations; however, the exact molecular mechanism remains unknown.[]

  • Ribose-5-Phosphate Isomerase Deficiency

    Note The disease is caused by mutations affecting the gene represented in this entry.[] […] pathway enzyme ribose-5-phosphate isomerase.[] RPI gene-sequence analysis revealed a frameshift and a missense mutation.[]

  • Abetalipoproteinemia

    […] of the MTP gene in both alleles of all individuals in a cohort of eight patients with classical ABL.[] Abstract The microsomal triglyceride transfer protein (MTP) is a heterodimer composed of the multifunctional enzyme, protein disulfide-isomerase, and a unique large, 97 kDa[] The results definitively exclude mutation of the apo-B gene as a causal factor of abetalipoproteinemia in three families.[]

  • Congenital Disorder of Glycosylation Type 1B

    We determined the genomic structure of the MPI gene in order to simplify mutation detection. The gene is composed of 8 exons and spans only 5 kb.[] Order single gene MPI Order this gene as a single gene test.[] -6-phosphate isomerase , Mannose-6-phosphate isomerase ( MPI ) , Mannose-6-phosphate isomerase ( MPI ) Phosphomannomutase 1 ( PMM1 ) , Phosphomannomutase 2 ( PMM2 ) , Phosphomannomutase[]

  • Leber Congenital Amaurosis

    To date, 23 LCA genes have been identified. Gene replacement in the RPE65 form of LCA represents a major advance in treatment, although limitations have been recognized.[] The mutations are mapped on non-active sites but severely reduced isomerase activity of RPE65.[] Abstract Mutations in retinoid isomerase, RPE65, or lecithin-retinol acyltransferase (LRAT) disrupt 11-cis-retinal recycling and cause Leber congenital amaurosis (LCA), the[]

  • Chondrodysplasia Punctata

    In three patients we found deletions of the ARSE gene: in one the deletion involved only the 3' end of the gene, while in two the ARSE gene was completely deleted.[] Human X-linked dominant chondrodysplasia punctata (CDPX2) or Happle syndrome is associated with mutations in the human emopamil binding protein (EBP), a delta8-delta7-sterol isomerase[] This absence has so far impaired a deep study of the role of this gene.[]

  • Hereditary Fructose Intolerance

    In this paper we define three new lesions in the aldolase B gene: two are large deletions, one of 1.65 kb and one of 1.4 kb; the third is a small deletion of 4 bp.[] It was found that fructose 1-phosphate is a potent competitive inhibitor (Ki congruent to 40 microM) of phosphomannose isomerase (EC, the first enzyme of the N-glycosylation[] See Food tables for a listing of fructose and glucose food content An enzyme-containing preparation (xylose isomerase), Fructosin , has shown anecdotal effectiveness, but[]

  • Glucocorticoid

    These findings indicate that glucocorticoids downregulate COX-1 expression and PGI2 synthesis in fetal PAECs through the activation of PAEC GR and effects on COX-1 gene transcription[] The enzyme activity of the cyclo-oxygenase/prostaglandin E (PGE) isomerase was measured in cell membranes from control cells and dexamethasone-treated cells.[] Estrogen upregulates cyclooxygenase-1 gene expression in ovine fetal pulmonary artery endothelium. J Clin Invest . 1998 ; 102 :176–183.[]

  • Pseudoachondroplasia

    The gene encoding CSPG core protein (CSPGCP) is thus a logical "candidate gene" for analysis in these conditions. cDNA probes encoding CSPGCP were used to identify restriction[] The accumulated SPARC was coincident with COMP and with protein disulfide isomerase, a resident chaperone of the rough ER, whereas SPARC and COMP were not coincident in the[] In addition to selective extracellular matrix components, the chaperones HSP47, protein disulfide isomerase (PDI) and calnexin were localized at elevated levels within the[]

  • Hypobetalipoproteinemia

    In a minority of cases, FHBL is due to truncation-producing mutations in the apobeta gene on chromosome 2p23-24.[] Functional analysis revealed that this mutant was unable to bind protein disulfide isomerase (PDI) or transfer lipids.[] The 894 amino-acid protein product of MTP (also called 97-KDa subunit) forms a heterodimer with the ubiquitous endoplasmic reticulum enzyme protein disulfide isomerase (PDI[]

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