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
2018
Age-Related Expression of Human AT1R Variants and Associated Renal Dysfunction in Transgenic Mice
Jain S, Rana A, Jain K, Perla SK, Puri N, Kumar A. Age-Related Expression of Human AT1R Variants and Associated Renal Dysfunction in Transgenic Mice. American Journal Of Hypertension 2018, 31: 1234-1242. PMID: 30084918, PMCID: PMC6454504, DOI: 10.1093/ajh/hpy121.Peer-Reviewed Original ResearchConceptsTranscriptional regulationHap-IISingle nucleotide polymorphismsBlood pressureVivo ChIP assaysNucleotide polymorphismsTranscription factor USF2Strong transcriptional activityTg miceRenal disordersType I geneAged animalsHaplotype-dependent mannerTransgenic miceTranscriptional environmentI geneChIP assaysTranscriptional activityAssociated renal dysfunctionHigh blood pressurePro-inflammatory markersGenesPhysiological relevanceAge-related expressionAntioxidant defense