2022
Loss of Serum Glucocorticoid-Inducible Kinase 1 SGK1 Worsens Malabsorption and Diarrhea in Microvillus Inclusion Disease (MVID)
Ahsan K, dos Reis DC, Barbieri A, Sumigray KD, Nottoli T, Salas PJ, Ameen NA. Loss of Serum Glucocorticoid-Inducible Kinase 1 SGK1 Worsens Malabsorption and Diarrhea in Microvillus Inclusion Disease (MVID). Journal Of Clinical Medicine 2022, 11: 4179. PMID: 35887942, PMCID: PMC9319011, DOI: 10.3390/jcm11144179.Peer-Reviewed Original ResearchMicrovillus inclusion diseaseSevere diarrheaInclusion diseaseFluid secretionCystic fibrosis transmembrane conductance regulatorDouble knockout miceMicrovillus inclusionsGlucocorticoid-inducible kinase 1Carbohydrate malabsorptionKnockout miceIntestinal carbohydrateDiarrheaDiarrheal diseaseMalabsorptionMiceVillus enterocytesDiseaseLoss of MYO5BFunction mutationsApical cystic fibrosis transmembrane conductance regulatorFibrosis transmembrane conductance regulatorKinase 1SecretionIntestineTransmembrane conductance regulator
2016
Identification of intestinal ion transport defects in microvillus inclusion disease
Kravtsov DV, Ahsan MK, Kumari V, van Ijzendoorn SC, Reyes-Mugica M, Kumar A, Gujral T, Dudeja PK, Ameen NA. Identification of intestinal ion transport defects in microvillus inclusion disease. AJP Gastrointestinal And Liver Physiology 2016, 311: g142-g155. PMID: 27229121, PMCID: PMC4967175, DOI: 10.1152/ajpgi.00041.2016.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingCaco-2 CellsChloride-Bicarbonate AntiportersCystic Fibrosis Transmembrane Conductance RegulatorEnterocytesGene Expression RegulationHumansIon TransportJejunumMalabsorption SyndromesMembrane Transport ProteinsMicrovilliMucolipidosesMyosin Heavy ChainsMyosin Type VPhenotypePhosphoproteinsRNA InterferenceSignal TransductionSodium-Hydrogen Exchanger 3Sodium-Hydrogen ExchangersSulfate TransportersTranscription FactorsTransfectionYAP-Signaling ProteinsConceptsMicrovillus inclusion diseaseStool lossVillus atrophyInclusion diseaseEnterocyte maturationMicrovillus inclusionsIntestinal fluid transportIntestinal cell modelIon transport defectImmunohistochemical stainingSecretory diarrheaBrush border defectsImmature enterocytesC2BBe cellsT84 cellsElectrophysiological approachesCFTR ion transportBB membraneLoss of MYO5BEnterocytesFunctional CFTRDiarrheaAtrophyFunction mutationsCFTR localization