2020
Tyrosyl phosphorylation of PZR promotes hypertrophic cardiomyopathy in PTPN11-associated Noonan syndrome with multiple lentigines
Yi JS, Perla S, Enyenihi L, Bennett AM. Tyrosyl phosphorylation of PZR promotes hypertrophic cardiomyopathy in PTPN11-associated Noonan syndrome with multiple lentigines. JCI Insight 2020, 5 PMID: 32584792, PMCID: PMC7455087, DOI: 10.1172/jci.insight.137753.Peer-Reviewed Original ResearchConceptsProtein tyrosine phosphataseTyrosyl phosphorylationNSML micePhosphorylation-defective mutantPTPN11 mutationsS6 kinase activityPZR tyrosyl phosphorylationTyrosine phosphataseS6 kinasePathophysiological signalingKinase activityShp2 interactionMutant fibroblastsSHP2Transmembrane glycoproteinMultiple lentiginesNoonan syndromeCraniofacial defectsPTPN11 geneHeart lysatesPhosphorylationSHP2 bindingMutationsNF-κB pathwayProtein zero
2019
A polymorphism in intron I of the human angiotensinogen gene (hAGT) affects binding by HNF3 and hAGT expression and increases blood pressure in mice
Mopidevi B, Kaw MK, Sivankutty I, Jain S, Perla SK, Kumar A. A polymorphism in intron I of the human angiotensinogen gene (hAGT) affects binding by HNF3 and hAGT expression and increases blood pressure in mice. Journal Of Biological Chemistry 2019, 294: 11829-11839. PMID: 31201268, PMCID: PMC6682742, DOI: 10.1074/jbc.ra119.007715.Peer-Reviewed Original ResearchMeSH KeywordsAngiotensinogenAnimalsBinding SitesBlood PressureCCAAT-Enhancer-Binding Protein-betaChromatinHep G2 CellsHepatocyte Nuclear Factor 3-betaHumansIntronsLinkage DisequilibriumLiverMiceMice, Inbred C57BLMice, TransgenicPolymorphism, Single NucleotideProtein BindingReceptors, GlucocorticoidReninRNA, MessengerConceptsIntron IHap-IITransgenic animalsGenome-wide association studiesHepatocyte nuclear factor 3Reporter gene constructsBlood pressureCCAAT enhancer-binding protein βEnhancer-binding protein βHuman angiotensinogen geneStrong homologyHypoxanthine-guanine phosphoribosyltransferase locusNucleotide sequenceGene constructsTranscription rateHuman renin genePromoter activityAssociation studiesHAGT expressionMain haplotypesGenesProtein βElevated blood pressureTransgenic mouse modelFactor 3