Shiny Nair, PhD
Research ScientistCards
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Research
Publications
2025
Refining Mouse Models of Gaucher Disease: Advancing Mechanistic Insights, Biomarker Discovery, and Therapeutic Strategies
Fattahi N, Ruan J, Belinsky G, Xing S, Mistry P, Nair S. Refining Mouse Models of Gaucher Disease: Advancing Mechanistic Insights, Biomarker Discovery, and Therapeutic Strategies. International Journal Of Molecular Sciences 2025, 26: 11915. PMID: 41465340, PMCID: PMC12733336, DOI: 10.3390/ijms262411915.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsMouse modelGaucher diseaseMouse model of Gaucher diseaseMouse model developmentContribution of macrophagesBiallelic pathogenic variantsLineage-specific modelsClinically meaningful endpointsGD mouse modelPatient-derived mutationsModel of Gaucher diseaseSubtypes of GDImmune dysregulationTherapeutic responseMulti-omics integrationB cellsPathogenic variantsTherapeutic strategiesPerinatal lethalityLysosomal disorderClinical translationImmune architectureBiomarker developmentGene editing platformMultisystem conditionPrecision genomic profiling in Gaucher disease: insights from atypical presentations
Saith A, Ain N, Ruan J, Kasaiyan M, Jain D, Israel G, Mehta S, Bamford N, Nair S, Mistry P. Precision genomic profiling in Gaucher disease: insights from atypical presentations. Frontiers In Genetics 2025, 16: 1553036. PMID: 41282474, PMCID: PMC12634035, DOI: 10.3389/fgene.2025.1553036.Peer-Reviewed Original ResearchWhole-exome sequencingEpigenetic modifiersAutosomal dominant polycystic kidney diseaseGenetic disordersGD patientsPathological accumulationGaucher diseaseSingle-gene disordersChronic metabolic inflammationGenome integrityComplex phenotypesAccumulation of glucosylceramidePrecision medicine strategiesHereditary cancer predispositionModel of precision medicineCohort of GD patientsCancer predispositionBiological pathwaysTertiary care centerDominant polycystic kidney diseaseFamilial Mediterranean feverIndividualized therapeutic approachPhenotypic heterogeneityGenetic diagnosisGenomic profilingModeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba deletion
Belinsky G, Ruan J, Fattahi N, Mehta S, Boddupalli C, Mistry P, Nair S. Modeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba deletion. Human Molecular Genetics 2025, 34: 952-966. PMID: 40197748, PMCID: PMC12085781, DOI: 10.1093/hmg/ddaf045.Peer-Reviewed Original ResearchGD miceImmune dysregulationGaucher diseaseExpansion of monocytesImmune cell deconvolutionKnockout modelsBone marrow microenvironmentGlucocerebrosidase activityC57BL/6 J backgroundDeficient glucocerebrosidase activityGaucher cell infiltrationInfluence disease severityGD biomarkersGD pathologyGD pathophysiologyLysosomal storage disorderImmune landscapeDendritic cellsHematopoietic stemMarrow microenvironmentAccumulation of glucosylceramideVav-CreBone marrowCell infiltrationHematopoietic cells
2022
Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy
Boddupalli CS, Nair S, Belinsky G, Gans J, Teeple E, Nguyen TH, Mehta S, Guo L, Kramer ML, Ruan J, Wang H, Davison M, Kumar D, Vidyadhara D, Zhang B, Klinger K, Mistry PK. Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy. ELife 2022, 11: e79830. PMID: 35972072, PMCID: PMC9381039, DOI: 10.7554/elife.79830.Peer-Reviewed Original ResearchConceptsNeuronopathic Gaucher diseaseAmelioration of neuroinflammationNK cellsGaucher diseaseSerum neurofilament light chainInvolvement of microgliaActivation of microgliaRole of microgliaProminent pathological featureNeurofilament light chainBlood-derived macrophagesRare neurodegenerative disorderGlucosylceramide synthaseNeuroinflammation pathwaysSerum NFMicroglia activationNeuronal injuryImmune infiltratesImproved survivalBrain macrophagesPathological featuresGD patientsClinical trialsMacrophage compartmentPatient management
2021
The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system
Narayanan P, Nair S, Balwani M, Malinis M, Mistry P. The clinical spectrum of SARS-CoV-2 infection in Gaucher disease: Effect of both a pandemic and a rare disease that disrupts the immune system. Molecular Genetics And Metabolism 2021, 135: 115-121. PMID: 34412940, PMCID: PMC8361210, DOI: 10.1016/j.ymgme.2021.08.004.Peer-Reviewed Case Reports and Technical NotesConceptsSARS-CoV-2 infectionType 1 Gaucher diseaseSARS-CoV-2Gaucher diseaseRare diseaseCOVID-19Immune system dysfunctionRare disease populationMedian agePediatric patientsCase seriesFemale patientsAdverse outcomesClinical spectrumIntensive careGD patientsSystem dysfunctionRetrospective analysisDisease populationHigh riskGeneral populationPatientsImmune systemDiseaseSimilar frequency
2020
Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy
Nair S, Bar N, Xu ML, Dhodapkar M, Mistry PK. Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy. Molecular Genetics And Metabolism 2020, 129: 286-291. PMID: 32044242, PMCID: PMC8223251, DOI: 10.1016/j.ymgme.2020.01.009.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Monoclonal gammopathyAntigenic targetsClonal immunoglobulinDisease type 1B cell activationAccumulation of glucosylceramideGD1 patientsImmunogenic lipidsMetabolic inflammationMultiple myelomaGD patientsHigh riskTarget antigenCell activationImmunoglobulin typeGammopathyType 1PatientsGenetic deficiencyAge-related phenotypesSaposin CClonal IgLysosomal glucocerebrosidaseGlcSph
2018
Antigen-mediated regulation in monoclonal gammopathies and myeloma
Nair S, Sng J, Boddupalli CS, Seckinger A, Chesi M, Fulciniti M, Zhang L, Rauniyar N, Lopez M, Neparidze N, Parker T, Munshi NC, Sexton R, Barlogie B, Orlowski R, Bergsagel L, Hose D, Flavell RA, Mistry PK, Meffre E, Dhodapkar MV. Antigen-mediated regulation in monoclonal gammopathies and myeloma. JCI Insight 2018, 3: e98259. PMID: 29669929, PMCID: PMC5931125, DOI: 10.1172/jci.insight.98259.Peer-Reviewed Original ResearchConceptsMultiple myelomaPlasma cellsGaucher diseaseAntigenic stimulationMonoclonal gammopathyAntigen-driven stimulationMonoclonal IgClonal IgB cell receptorSingle tumor cellsPatient cohortUndetermined significanceVivo responsivenessMalignant cloneGammopathyTumor growthMonoclonal tumorsCell receptorTumor cellsAntigenGene expression profilingStimulationClonal natureMyelomaTumors
2017
Natural Killer T Cells in Cancer Immunotherapy
Nair S, Dhodapkar MV. Natural Killer T Cells in Cancer Immunotherapy. Frontiers In Immunology 2017, 8: 1178. PMID: 29018445, PMCID: PMC5614937, DOI: 10.3389/fimmu.2017.01178.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
2016
ABC transporters and NR4A1 identify a quiescent subset of tissue-resident memory T cells
Boddupalli CS, Nair S, Gray SM, Nowyhed HN, Verma R, Gibson JA, Abraham C, Narayan D, Vasquez J, Hedrick CC, Flavell RA, Dhodapkar KM, Kaech SM, Dhodapkar MV. ABC transporters and NR4A1 identify a quiescent subset of tissue-resident memory T cells. Journal Of Clinical Investigation 2016, 126: 3905-3916. PMID: 27617863, PMCID: PMC5096804, DOI: 10.1172/jci85329.Peer-Reviewed Original ResearchConceptsTissue-resident memory T cellsMemory T cellsT cellsTRM cellsCellular therapyAdoptive cellular therapyImmune-deficient micePotential cellular therapySP T cellsSide population cellsHuman T cellsPutative subsetsAdoptive transferDistinct gene expression profilesCell mobilizationImmune surveillanceQuiescent subsetPopulation cellsMiceTherapyQuiescent phenotypeDistinct subsetsMember 1Nuclear receptorsSignature genesClonal Immunoglobulin against Lysolipids in the Origin of Myeloma
Nair S, Branagan AR, Liu J, Boddupalli CS, Mistry PK, Dhodapkar MV. Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma. The New England Journal Of Medicine 2016, 374: 555-561. PMID: 26863356, PMCID: PMC4804194, DOI: 10.1056/nejmoa1508808.Peer-Reviewed Original Research
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Yale School of Medicine
Department of Medicine (Digestive Diseases), PO Box 208019
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