2023
SLC26A1 is a major determinant of sulfate homeostasis in humans
Pfau A, López-Cayuqueo K, Scherer N, Wuttke M, Wernstedt A, Fassrainer D, Smith D, van de Kamp J, Ziegeler K, Eckardt K, Luft F, Aronson P, Köttgen A, Jentsch T, Knauf F. SLC26A1 is a major determinant of sulfate homeostasis in humans. Journal Of Clinical Investigation 2023, 133: e161849. PMID: 36719378, PMCID: PMC9888379, DOI: 10.1172/jci161849.Peer-Reviewed Original ResearchConceptsSulfate homeostasisIntervertebral disc disordersWhole-exome sequencingMajor determinantBack painPatient presentingMusculoskeletal healthDisc disordersPlasma sulfateSulfate reabsorptionFunctional expression assaysCartilage healthHomozygous mutationPotential targetPopulation studiesNumerous physiological processesRecent evidenceExome analysisHomeostasisHyposulfatemiaExpression assaysPivotal roleClinical geneticsAdditional variantsHumans
2018
Hereditary arrhythmias and cardiomyopathies
Louis C, Calamaro E, Vinocur JM. Hereditary arrhythmias and cardiomyopathies. Current Opinion In Cardiology 2018, 33: 78-86. PMID: 29059074, DOI: 10.1097/hco.0000000000000477.Commentaries, Editorials and LettersMeSH KeywordsArrhythmias, CardiacArrhythmogenic Right Ventricular DysplasiaBrugada SyndromeCardiomyopathiesCardiomyopathy, DilatedCardiomyopathy, Hypertrophic, FamilialClinical Decision-MakingGenetic CounselingGenetic TestingHealth Services AccessibilityHumansLong QT SyndromePatient Care TeamPractice Guidelines as TopicTachycardia, VentricularConceptsHereditary arrhythmiasGenetic testingClass I recommendationManagement of patientsStandard of careAppropriateness of useI recommendationConsensus guidelinesCardiomyopathy diagnosisFamily screeningClinical geneticsReproductive planningClinical practiceMultidisciplinary teamOptimal managementArrhythmiasAppropriate useCardiomyopathyDiagnosisGenetic counselorsGuidelinesCase-based approachPatientsPrognosisTesting
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