2022
An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies
Yi JS, Perla S, Bennett AM. An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies. Cardiovascular Drugs And Therapy 2022, 37: 1193-1204. PMID: 35156148, DOI: 10.1007/s10557-022-07324-0.Peer-Reviewed Original ResearchConceptsRAS-MAPK pathwayRAS/mitogen-activated protein kinase (MAPK) pathwayMitogen-activated protein kinase pathwayPost-developmental processesProtein kinase pathwayHypertrophic cardiomyopathyKinase pathwayRASopathy patientsDevelopmental diseasesNoonan syndromeTreatment of HCMRASopathiesCardiofaciocutaneous syndromePathwayNeurofibromatosis type 1Cardiovascular defectsValvular abnormalitiesCardiovascular manifestationsHeart diseaseClinical informationCostello syndromeCongenital heartMultiple lentiginesTherapeutic landscapeAntineoplastic drugs
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
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