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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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Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease.

2011

Canavan Disease (CD) is a recessive leukodystrophy caused by loss of function mutations in the gene encoding aspartoacylase (ASPA), an oligodendrocyte-enriched enzyme that hydrolyses N-acetylaspartate (NAA) to acetate and aspartate. The neurological phenotypes of different rodent models of CD vary considerably. Here we report on a novel targeted aspa mouse mutant expressing the bacterial β-Galactosidase (lacZ) gene under the control of the aspa regulatory elements. X-Gal staining in known ASPA expression domains confirms the integrity of the modified locus in heterozygous aspa lacZ-knockin (aspa(lacZ/+)) mice. In addition, abundant ASPA expression was detected in Schwann cells. Homozygous (…

MaleCentral Nervous SystemCerebellumPathologyAnatomy and PhysiologyCanavan DiseaseMouseMutantlcsh:MedicineNeural HomeostasisBiochemistryMiceNeurobiology of Disease and Regenerationlcsh:ScienceSex CharacteristicsMultidisciplinaryNeuromodulationNeurochemistryGenomicsAnimal ModelsFunctional Genomicsmedicine.anatomical_structureLac OperonNeurologyHomeostatic MechanismsMedicineFemaleNeurochemicalsGenetic EngineeringResearch ArticleNervous System PhysiologyBiotechnologymedicine.medical_specialtyTransgeneCentral nervous systemNeurophysiologyMice TransgenicNeuroimagingBiologyNeurological SystemAmidohydrolasesWhite matterModel OrganismsGeneticsmedicineAnimalsBiologyNeuropeptidesLeukodystrophylcsh:RComputational Biologymedicine.diseaseMolecular biologyCanavan diseaseAspartoacylaseDisease Models AnimalMetabolismnervous systemSmall MoleculesCellular NeuroscienceMetabolic DisordersMutationGenetics of DiseaseNervous System Componentslcsh:QGene FunctionMolecular NeuroscienceAnimal GeneticsNeurosciencePLoS ONE
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Transcriptional profiling reveals functional links between RasGrf1 and Pttg1 in pancreatic beta cells

2014

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License .

MaleComputingMilieux_LEGALASPECTSOFCOMPUTINGTranscriptomeCytosolRas-GRF1Insulin-Secreting CellsGlucose homeostasisPromoter Regions GeneticOligonucleotide Array Sequence AnalysisMice KnockoutGeneticsCell biologySecurinERKPhenotypemedicine.anatomical_structureMitogen-Activated Protein KinasesBeta cellSignal transductionResearch ArticleSignal TransductionBiotechnologyCell signalingMedicina InvestigacióMedicinaPancreatic isletsBiologyGeneticsmedicineAnimalsCell LineagePttg1TranscriptomicsTranscription factorBinding Sitesras-GRF1Gene Expression ProfilingPancreatic isletsBeta cellsMolecular Sequence AnnotationGlucose Tolerance TestMice Inbred C57BLPàncrees MalaltiesGenetic LociData_GENERALTranscriptional factorsras ProteinsCalciumRasGrf1RasBMC Genomics
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Statins and other drugs: Facing COVID-19 as a vascular disease

2020

Angiotensin-converting enzyme inhibitors (ACEi), angiotensin II receptor blockers (ARBs), and HMG-CoA reductase inhibitors ("statins") have been hypothesized to affect COVID-19 severity. However, up to now, no studies investigating this association have been conducted in the most vulnerable and affected population groups (ie, older adults residing in nursing homes). The objective of this study was to explore the association of ACEi/ARB and/or statins with clinical manifestations in COVID-19-infected older adults residing in nursing homes.We undertook a retrospective multicenter cohort study to analyze the association between ACEi/ARB and/or statin use with clinical outcome of COVID-19. The …

MaleCoronavirus disease 2019 (COVID-19)Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)Pneumonia ViralAngiotensin-Converting Enzyme InhibitorsRisk AssessmentSeverity of Illness IndexCohort StudiesBetacoronavirusAngiotensin Receptor AntagonistsBelgiumStatins Drugs COVID-19 Vascular DiseaseCause of DeathVascular DiseasePandemicOdds RatioHomes for the AgedHumansMedicineVascular DiseasesLetter to the EditorGeriatric AssessmentPandemicsAgedRetrospective StudiesAged 80 and overPharmacologybiologySARS-CoV-2business.industryVascular diseaseStatinsDrugsCOVID-19medicine.diseasebiology.organism_classificationVirologyNursing HomesSurvival RatePneumoniaLogistic ModelsTreatment OutcomeFemaleHydroxymethylglutaryl-CoA Reductase InhibitorsCoronavirus InfectionsbusinessNursing homesCoronavirus InfectionsBetacoronavirusPharmacological Research
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Pain and quality of life among residents of Norwegian nursing homes.

2008

Pain is a major problem in the nursing home population, with a prevalence range of 27% to 84%. Pain is an unpleasant sensory and emotional experience associated with actual or potential tissue damage or described in terms of such damage (International Association for the Study of Pain, 2008). It has an impact on many aspects of a person's emotional, social, and physical functioning, and on quality of life (QoL) The purpose of this study was to describe pain and QoL in a nursing home population that could self-report pain and to examine the association between QoL and pain in these patients. Pain was measured by a verbal rating scale from "no pain" to "severe pain." Quality of life was measu…

MaleCross-sectional studyPainComorbidityAffect (psychology)Quality of lifeMedicineDementiaHomes for the AgedHumansAgedAdvanced and Specialized NursingAged 80 and overMini–Mental State Examinationmedicine.diagnostic_testbusiness.industryNorwaymedicine.diseaseComorbidityNursing HomesAffectMoodCross-Sectional StudiesCase-Control StudiesLinear ModelsQuality of LifePain catastrophizingFemalebusinessCognition DisordersClinical psychologyPain management nursing : official journal of the American Society of Pain Management Nurses
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Importance of mitochondrial dynamin-related protein 1 in hypothalamic glucose sensitivity in rats.

2012

International audience; AIMS: Hypothalamic mitochondrial reactive oxygen species (mROS)-mediated signaling has been recently shown to be involved in the regulation of energy homeostasis. However, the upstream signals that control this mechanism have not yet been determined. Here, we hypothesize that glucose-induced mitochondrial fission plays a significant role in mROS-dependent hypothalamic glucose sensing. RESULTS: Glucose-triggered translocation of the fission protein dynamin-related protein 1 (DRP1) to mitochondria was first investigated in vivo in hypothalamus. Thus, we show that intracarotid glucose injection induces the recruitment of DRP1 to VMH mitochondria in vivo. Then, expressio…

MaleEnergy-Generating Resourcesnervous-systemPhysiology[ SDV.AEN ] Life Sciences [q-bio]/Food and NutritionClinical BiochemistryneuronsMitochondrionBiochemistryinvolvementEnergy homeostasisDNM1L0302 clinical medicineInsulin-Secreting CellsInsulin SecretionInsulinGeneral Environmental Science2. Zero hungerchemistry.chemical_classification0303 health sciencesTransport proteinMitochondriaProtein TransportHypothalamusGene Knockdown TechniquesMitochondrial MembranesMitochondrial fissionRNA InterferenceDynaminsmedicine.medical_specialtyendocrine systembrainmechanismCarbohydrate metabolismBiology03 medical and health sciencesOxygen ConsumptionInternal medicineexpressionmedicineAnimalsRats WistarMolecular Biologyenergy homeostasis030304 developmental biologyReactive oxygen speciesAppetite RegulationArcuate Nucleus of HypothalamusCell Biologyislet blood-flowRatsEndocrinologyGlucosechemistryVentromedial Hypothalamic NucleusGeneral Earth and Planetary SciencesactivationReactive Oxygen Species[SDV.AEN]Life Sciences [q-bio]/Food and Nutrition030217 neurology & neurosurgeryinsulin-secretion
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Inverse relationship between body mass index and mortality in older nursing home residents: A meta-analysis of 19,538 elderly subjects

2015

Body mass index (BMI) and mortality in old adults from the general population have been related in a U-shaped or J-shaped curve. However, limited information is available for elderly nursing home populations, particularly about specific cause of death. A systematic PubMed/EMBASE/CINAHL/SCOPUS search until 31 May 2014 without language restrictions was conducted. As no published study reported mortality in standard BMI groups (<18.5, 18.5–24.9, 25–29.9, ≥30 kg/m2), the most adjusted hazard ratios (HRs) according to a pre-defined list of covariates were obtained from authors and pooled by random-effect model across each BMI category. Out of 342 hits, 20 studies including 19,538 older nursin…

MaleFrail ElderlySocio-culturaleelderlyBody mass index;elderly;mortality;nursing homenursing home.EndocrinologyThinnessRisk FactorsHomes for the AgedHumansNutritional Physiological PhenomenaBody mass indexAgedAged 80 and overBody mass index; Elderly; Mortality; Nursing home; Public Health Environmental and Occupational Health; Endocrinology Diabetes and MetabolismNursing homeEnvironmental and Occupational HealthPublic Health Global Health Social Medicine and EpidemiologyBody mass index elderly mortality nursing homeOverweightmortalityNursing HomesDiabetes and MetabolismFolkhälsovetenskap global hälsa socialmedicin och epidemiologiFemalePublic Health
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Hepatocellular expression of a dominant-negative mutant TGF-β type II receptor accelerates chemically induced hepatocarcinogenesis

2001

The potent growth-inhibitory activity of cytokines of the transforming growth factor-beta (TGF-beta) superfamily and their widespread expression in epithelia suggest that they may play an important role in the maintenance of epithelial homeostasis. To analyse TGF-beta mediated tumor suppressor activity in the liver, we generated transgenic mice overexpressing a dominant negative type II TGF-beta receptor in hepatocytes under control of the regulatory elements of the human C-reactive protein gene promoter. Transgenic animals exhibited constitutive and liver-specific transgene expression. The functional inactivation of the TGF-beta signaling pathway in transgenic hepatocytes was shown by redu…

MaleGenetically modified mouseCancer Researchmedicine.medical_specialtyCarcinoma HepatocellularTransgeneMice TransgenicProtein Serine-Threonine KinasesBiologymedicine.disease_causeMiceLiver Neoplasms ExperimentalTransforming Growth Factor betaInternal medicineGeneticsmedicineAnimalsRNA MessengerMolecular BiologyCells CulturedTissue homeostasisDNA synthesisReceptor Transforming Growth Factor-beta Type IICell biologyC-Reactive ProteinEndocrinologymedicine.anatomical_structureHepatocyteMutationHepatocytesSignal transductionCarcinogenesisReceptors Transforming Growth Factor betaTransforming growth factorOncogene
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Use of the Barthel Index to Assess Activities of Daily Living before and after SARS-COVID 19 Infection of Institutionalized Nursing Home Patients

2021

The objective of the present study was to evaluate the activities of daily living (ADLs) using the Barthel Index before and after infection with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and also to determine whether or not the results varied according to gender. The ADLs of 68 cohabiting geriatric patients, 34 men and 34 women, in two nursing homes were measured before and after SARS-CoV-2 (Coronavirus 2019 (COVID-19)) infection. COVID-19 infection was found to affect the performance of ADLs in institutionalized elderly in nursing homes, especially in the more elderly subjects, regardless of sex. The COVID-19 pandemic, in addition to having claimed many victims, espe…

MaleGerontologyActivities of daily livingCoronavirus disease 2019 (COVID-19)Barthel indexHealth Toxicology and MutagenesisSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2)Medicina Física y RehabilitaciónDiseaseÍndice Barthel030204 cardiovascular system & hematologyAffect (psychology)Persones gransArticleActivities of daily liveActividades cotidianas03 medical and health sciences0302 clinical medicineQuality of lifePandemicActivities of Daily LivingHumansBarthel indexMedicine030212 general & internal medicinePandemicsAgedSARS-CoV-2business.industryallergologyPublic Health Environmental and Occupational HealthRCOVID-19humanitiesVirusNursing HomesQuality of LifeMedicineEnfermeríaFemalebusinessNursing homeshuman activities
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Physical Activity and Related Factors Among Nursing Home Residents

1994

OBJECTIVE: The purpose of this study was to examine physical activity and the predictors of physical activity and exercise among nursing home residents. DESIGN: Population study. PARTICIPANTS: The sample (n = 190) was obtained by selecting every man and every second women from the entire nursing home population (n = 346) in the city of Jyvaskyla, central Finland, in autumn 1989. Information was eventually collected by interview from 158 persons (49 men and 109 women). SETTING: An in-home interview carried out among nursing home populations. MEASUREMENTS: Independent variables were the questions describing physical activity among nursing home populations. Dependent variables were the predict…

MaleGerontologyActivities of daily livingmedia_common.quotation_subjectPopulationPhysical exerciseAffect (psychology)Quality of life (healthcare)Activities of Daily LivingHumansMedicineExercise physiologyEveryday lifeeducationExerciseGeriatric AssessmentAgedmedia_commonAged 80 and overeducation.field_of_studyDepressionbusiness.industryContentmentNursing HomesQuality of LifeFemaleGeriatrics and GerontologybusinessJournal of the American Geriatrics Society
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