0000000000681251

AUTHOR

Amélie Bonnefond

showing 3 related works from this author

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

2012

Familial hyperkalemic hypertension (FHHt) is a Mendelian form of arterial hypertension that is partially explained by mutations in WNK1 and WNK4 that lead to increased activity of the Na(+)-Cl(-) cotransporter (NCC) in the distal nephron. Using combined linkage analysis and whole-exome sequencing in two families, we identified KLHL3 as a third gene responsible for FHHt. Direct sequencing of 43 other affected individuals revealed 11 additional missense mutations that were associated with heterogeneous phenotypes and diverse modes of inheritance. Polymorphisms at KLHL3 were not associated with blood pressure. The KLHL3 protein belongs to the BTB-BACK-kelch family of actin-binding proteins tha…

MaleCarrier Proteins/geneticsPseudohypoaldosteronism/genetics/metabolism/physiopathologyPseudohypoaldosteronism[SDV]Life Sciences [q-bio]Blood Pressure030204 cardiovascular system & hematologyNephrons/metabolismKidney0302 clinical medicineMissense mutationChildComputingMilieux_MISCELLANEOUSGeneticsddc:616Aged 80 and over0303 health sciencesbiologyMicrofilament ProteinsMiddle AgedWNK1PhenotypeSodium Chloride SymportersWNK4Ubiquitin ligaseFemaleSignal TransductionAdultmedicine.medical_specialtyAdolescentBlood Pressure/geneticsIon Transport/geneticsMolecular Sequence DataPolymorphism Single Nucleotide03 medical and health sciencesYoung AdultInternal medicineGeneticsmedicineHumansAmino Acid SequenceSodium Chloride Symporters/genetics/metabolism030304 developmental biologyAdaptor Proteins Signal TransducingAgedIon TransportBase Sequenceurogenital systemPseudohypoaldosteronismKidney metabolismNephronsSequence Analysis DNAmedicine.diseaseKidney/metabolismEndocrinologyIon homeostasisbiology.proteinCarrier Proteins
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Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults

2018

Background: DNA methylation at the GFI1-locus has been repeatedly associated with exposure to smoking from the foetal period onwards. We explored whether DNA methylation may be a mechanism that links exposure to maternal prenatal smoking with offspring's adult cardio-metabolic health.Methods: We meta-analysed the association between DNA methylation at GFI1-locus with maternal prenatal smoking, adult own smoking, and cardio-metabolic phenotypes in 22 population-based studies from Europe, Australia, and USA (n= 18,212). DNA methylation at the GFI1-locus was measured in whole-blood. Multivariable regression models were fitted to examine its association with exposure to prenatal and own adult s…

Genetics and Molecular Biology (all)MaleNetherlands Twin Register (NTR)0301 basic medicineResearch paperGFI1 protein humanGFI1-locusraskausResearch & Experimental Medicinecardio-metabolic phenotypesBiochemistryEpigenesis GeneticGLOBAL Meth QTL Consortium0302 clinical medicinePregnancySmoke030212 general & internal medicinematernal prenatal smokingDNA METHYLATIONmedia_commonRISK2. Zero hungereducation.field_of_studySmokingta3142General MedicineMiddle Agedgenetics [Transcription Factors]3. Good healthDNA-Binding ProteinsPhenotypeMedicine Research & ExperimentalCARDIOVASCULAR-DISEASEepigenetiikkaPopulation SurveillancePrenatal Exposure Delayed EffectsDNA methylation/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleDisease SusceptibilityBIOS ConsortiumMedical GeneticsLife Sciences & BiomedicineAdultmedicine.medical_specialtyOffspringBirth weightPopulationMothersgenetics [DNA-Binding Proteins]ta3111MethylationGeneral Biochemistry Genetics and Molecular BiologyDIET03 medical and health sciencesMedicine General & InternalSDG 3 - Good Health and Well-beingtupakointiGeneral & Internal MedicineInternal medicine/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_medicinemedia_common.cataloged_instanceHumansddc:610adverse effects [Maternal Exposure]EXPOSUREEpigeneticsEuropean unioneducationMedicinsk genetikEPIGENOME-WIDE ASSOCIATIONPregnancyBiochemistry Genetics and Molecular Biology (all)Science & Technologybusiness.industryadverse effects [Smoking]DNA Methylationta3121medicine.diseaseBIRTH-WEIGHT030104 developmental biologyEndocrinologyGenetic Locisydän- ja verisuonitauditCpG IslandsCIGARETTE-SMOKINGCESSATIONEnergy Metabolismmetabolism [Myocardium]businessBody mass indexBiomarkersTranscription FactorsEBioMedicine
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Design of a prospective, longitudinal cohort of people living with type 1 diabetes exploring factors associated with the residual cardiovascular risk…

2021

Type 1 diabetes mellitus (T1DM) is associated with a high risk of cardiovascular (CV) complications, even after controlling for traditional CV risk factors. Therefore, determinants of the residual increased CV morbidity and mortality remain to be discovered. This prospective cohort of people living with T1DM in France (SFDT1) will include adults and children aged over six years living with T1DM, recruited throughout metropolitan France and overseas French departments and territories. The primary objective is to better understand the parameters associated with CV complications in T1DM. Clinical data and biobank samples will be collected during routine visits every three years. Data from conn…

GerontologyAdultBlood GlucoseEndocrinology Diabetes and MetabolismEndocrinologyQuality of lifeRisk FactorsDiabetes mellitusHealth careInternal MedicineMedicineHumansProspective StudiesProspective cohort studyChildSocioeconomic statusType 1 diabetesbusiness.industryBlood Glucose Self-MonitoringGeneral Medicinemedicine.diseaseBiobankDiabetes Mellitus Type 1Cardiovascular DiseasesHeart Disease Risk FactorsCohortbusinessDiabetesmetabolism
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