0000000000591548

AUTHOR

Olli Simell

showing 3 related works from this author

Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance

1997

Lysinuric protein intolerance (LPI) is a recessively inherited amino acid disorder characterized by defective efflux of cationic amino acids at the basolateral membrane of the intestinal and renal tubular epithelium. Recently, cDNAs encoding the related proteins hCAT-2A and hCAT-2B have been cloned. These two carrier proteins are most likely the product of the same gene, hCAT-2. Using the hCAT-2B cDNA, we assigned the hCAT-2 gene to chromosome 8p22. Furthermore, by linkage analysis in Finnish LPI families, we ruled out that hCAT-2B is involved in LPI disease.

Genetic LinkageBiologyGene mappingGenetic linkageComplementary DNAGeneticsmedicineHumansAmino acid transporterAmino Acid Metabolism Inborn ErrorsGeneGenetics (clinical)chemistry.chemical_classificationLysineChromosome MappingMembrane Proteinsmedicine.diseaseLysinuric protein intoleranceAmino acidchemistryBiochemistryAmino Acid Transport Systems BasicEffluxCarrier ProteinsChromosomes Human Pair 8Microsatellite RepeatsHuman Genetics
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40(th) EASD Annual Meeting of the European Association for the Study of Diabetes : Munich, Germany, 5-9 September 2004

2004

0303 health sciencesmedicine.medical_specialtybusiness.industryEASDEndocrinology Diabetes and MetabolismHuman physiologymedicine.disease03 medical and health sciences0302 clinical medicineDiabetes mellitusFamily medicineInternal MedicineMedicinebusiness030217 neurology & neurosurgery030304 developmental biology
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Estimated intake levels for Finnish children of methylmercury from fish

2013

Abstract Methylmercury (MeHg) is a well-known neurotoxic agent, and consumption of contaminated fish is the principal environmental source of MeHg exposure in humans. Children are more susceptible to adverse effects than adults. No previous specific data exist for intake by Finnish children of methylmercury from fish. We estimated fish consumption and MeHg intakes from species most commonly consumed by Finnish children aged 1–6 years. The total mercury concentrations were determined in fish species consumed, and age-specific methylmercury intakes were derived. We also examined safety margins and the proportion of children exceeding the tolerable daily intakes set by international expert bod…

MaleDaily intake0211 other engineering and technologiesFish speciesFood consumption02 engineering and technology010501 environmental sciencesToxicology01 natural scienceschemistry.chemical_compoundAnimal scienceAnimalsHumansChildMethylmercuryFinland0105 earth and related environmental sciences021110 strategic defence & security studiesChemistryFishesInfantta3141ta3142General MedicineMethylmercury CompoundsFish consumptionBeta cell autoimmunityta3123SeafoodEnvironmental chemistryChild PreschoolPopulation studyFemaleFood ScienceFood and Chemical Toxicology
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