0000000000799294

AUTHOR

Hannes Lohi

0000-0003-1087-5532

showing 2 related works from this author

Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease

2018

SUMMARY Maternally skewed transmission of traits has been associated with genomic imprinting and oocyte-derived mRNA. We report canine congenital eye malformations, caused by an amino acid deletion (K12del) near the N terminus of retinol-binding protein (RBP4). The disease is only expressed when both dam and offspring are deletion homozygotes. RBP carries vitamin A (retinol) from hepatic stores to peripheral tissues, including the placenta and developing eye, where it is required to synthesize retinoic acid. Gestational vitamin A deficiency is a known risk factor for ocular birth defects. The K12del mutation disrupts RBP folding in vivo, decreasing its secretion from hepatocytes to serum. T…

0301 basic medicineMaleNon-Mendelian inheritanceProtein Foldingcongenital eye defectEye Diseasesgenetic structuresNATIVE DISULFIDE BONDSMedical PhysiologyRetinoic acidReproductive health and childbirth413 Veterinary scienceMicrophthalmiavitamin Achemistry.chemical_compoundPlasmaA-vitamiini2.1 Biological and endogenous factorsMicrophthalmosPrealbuminCRYSTAL-STRUCTUREAetiologyBase Pairinglcsh:QH301-705.5Sequence DeletionPediatricwhole genome sequencingVITAMIN-A-DEFICIENCYANOPHTHALMIAPenetrancePedigreemedicine.anatomical_structurePhenotypeFemalemedicine.medical_specialtyGenotypeENDOPLASMIC-RETICULUMGenes RecessiveMETABOLISMBiologyGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesDogscanine geneticsInternal medicinePlacentaRETINOL-BINDING-PROTEINGeneticsmedicineAnimalsHumansRecessiveMALFORMATIONSBIOCHEMICAL BASISAmino Acid SequenceAlleleEye Disease and Disorders of VisionNutritiongenome-wide association study030102 biochemistry & molecular biologywestern blottingMUTATIONSta1184RBP4maternal inheritancemedicine.diseaseRetinol-Binding ProteinsRetinol binding proteinnuclear magnetic resonance030104 developmental biologyEndocrinologychemistryGeneslcsh:Biology (General)microphthalmiaGenetic LociHela Cells1182 Biochemistry cell and molecular biologyCongenital Structural Anomalies3111 BiomedicineBiochemistry and Cell BiologyDigestive DiseasesGenomic imprintingRetinol-Binding Proteins PlasmaHeLa Cells
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Toxoplasma gondii seroprevalence varies by cat breed.

2017

Toxoplasma gondii is a widespread zoonotic parasite that is relevant for veterinary and public health. The domestic cat, the definitive host species with the largest worldwide population, has become evolutionarily and epidemiologically the most important host of T. gondii. The outcome of T. gondii infection is influenced by congenital and acquired host characteristics. We detected differences in T. gondii seroprevalence by cat breed in our previous studies. The aims of this study were to estimate T. gondii seroprevalence in selected domestic cat breeds, and to evaluate whether being of a certain breed is associated with T. gondii seropositivity, when the age and lifestyle of the cat are tak…

Male0301 basic medicineVeterinary medicineHOSTPhysiologylcsh:MedicinePathogenesis413 Veterinary sciencePathology and Laboratory MedicineBiochemistryDISEASEToxoplasma Gondii0403 veterinary scienceAnimal ProductsSeroepidemiologic StudiesImmune PhysiologyDirect agglutination testMedicine and Health SciencesEthnicitieslcsh:ScienceMammalsProtozoanseducation.field_of_studyImmune System ProteinsMultidisciplinarybiologyFATAL TOXOPLASMOSISAge FactorsAgriculture04 agricultural and veterinary sciencesFINLANDSERIESBreedFELINE INFECTIOUS PERITONITISPREVALENCE3. Good healthVertebratesHost-Pathogen InteractionsFemaleOTOCOLOBUS-MANULToxoplasmaResearch ArticleMeatNorwegian People040301 veterinary sciencesAnimal TypesImmunologyPopulationbiology.animal_breedAntibodies03 medical and health sciencesParasite Groupsparasitic diseasesmedicineAnimalsSeroprevalenceDomestic AnimalseducationNutritionlcsh:ROrganismsOocystsBiology and Life SciencesProteinsToxoplasma gondiiNorwegian Forest catbiology.organism_classificationmedicine.diseaseParasitic ProtozoansFeline infectious peritonitisToxoplasmosisDietLogistic ModelsToxoplasmosis Animal030104 developmental biologyFoodAmniotesPeople and PlacesMultivariate AnalysisCatsPopulation GroupingsParasitologylcsh:QZoologyApicomplexaPLoS ONE
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