Search results for "Copper metabolism"

showing 4 items of 4 documents

Functional Changes in the Family of Type 3 Copper Proteins During Evolution

2004

Copper proteinmedicine.medical_treatmentCopper metabolismchemistry.chemical_elementMoltingBiologyBiochemistryEvolution MolecularMolecular evolutionMetalloproteinmedicineAnimalsMolecular Biologychemistry.chemical_classificationWound HealingMonophenol MonooxygenaseOrganic ChemistryHemocyaninGeneral MedicineCopperBiochemistrychemistryMonophenol monooxygenaseHemocyaninsImmunologyMolecular MedicineCopperChemBioChem
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Association of Variants in the

2020

Abstract Wilson’s disease (WD) is a copper metabolism disorder, caused by allelic variants in the ATP7B gene. Wilson’s disease can be diagnosed by clinical symptoms, increased copper and decreased cerulopasmin levels, which could all also be by other genetic variants beyond the ATP7B gene, e.g., disturbed ceruloplasmin biosynthesis can be caused by pathogenic allelic variants of the CP gene. Copper metabolism in the organism is affected by several molecules, but pathogenic variants and related phenotypes are described with COMMD1 and ATOX1 genes. The aim of the study was to test other genes, CP, ATOX1 and COMMD1, for possible influence to the manifestation of WD. Patients were enrolled on t…

Decreased blood ceruloplasminCopper metabolismOriginal ArticleWilson’s disease (WD)Balkan journal of medical genetics : BJMG
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Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?

2020

Summary The diagnosis of Wilson disease is not always easy. For many patients, a combination of tests reflecting disturbed copper metabolism may be needed. Testing for ATP7B variants has become part of the routine diagnostic approach. The methods of genetic testing include analysis of the 21 coding exons and intronic flanking sequences, in which exons with recurrent variants would be prioritised depending on the mutation frequency in the local population. If sequencing the entire ATP7B gene cannot identify 2 variants and the suspicion for Wilson disease is high, after reviewing the clinical data, WES (whole-exome sequencing) or WGS (whole-genome sequencing) could be applied. A workflow base…

DiseaseReviewIndian childhood cirrhosisBioinformaticsDNA sequencingWES whole-exome sequencingPFIC progressive familial intrahepatic cholestasisInternal MedicinemedicineImmunology and AllergyMultiplex ligation-dependent probe amplificationWGS whole-genome sequencingExome sequencingGenetic testingWilson diseaseWhole genome sequencingWhole-genome sequencingHepatologymedicine.diagnostic_testMEDNIK syndromebusiness.industryCopper metabolismGastroenterologyMLPA multiplex ligation-dependent probe amplificationmedicine.diseaseICC Indian childhood cirrhosisNGS next-generation sequencingDMR differentially methylated regionsWhole-exome sequencingNext-generation sequencingbusinessICT idiopathic or primary copper toxicosisCDG congenital disorders of glycosylationGenetic diseasesJHEP Reports
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Cops and robbers: putative evolution of copper oxygen-binding proteins.

2000

Two closely related copper proteins, phenoloxidase and haemocyanin, are known to be involved in different physiological functions such as the primary immune response and oxygen transport. Although the proteins differ structurally, they have the same active site by which dioxygen is bound. Recent results reveal that haemocyanin also exhibits phenoloxidase activity. A scenario is proposed for the evolutionary relationships among copper oxygen-binding proteins (COPs).

PhysiologyCopper proteinCopper metabolismchemistry.chemical_elementAquatic ScienceEvolution MolecularPrimary immune responseAnimalsBinding siteMolecular BiologyEcology Evolution Behavior and SystematicsBinding SitesbiologyMonophenol MonooxygenaseOxygen transportActive siteCopperOxygenchemistryBiochemistryInsect ScienceHemocyaninsbiology.proteinAnimal Science and ZoologyOxygen bindingCopperThe Journal of experimental biology
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