Shiny Nair, PhD
Research ScientistCards
About
Research
Publications
2025
Modeling 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 cellsMolecular cell atlas of the brain in neuronopathic Gaucher disease
Nair S, Mehta S, Belinsky G, Mistry P. Molecular cell atlas of the brain in neuronopathic Gaucher disease. Molecular Genetics And Metabolism 2025, 144: 108868. DOI: 10.1016/j.ymgme.2024.108868.Peer-Reviewed Original ResearchInvestigating the genomic basis of phenotypic diversity among siblings in Gaucher disease
Ain N, Kulkarni N, Ruan J, Ruan A, Nair S, Mehta S, Mistry P. Investigating the genomic basis of phenotypic diversity among siblings in Gaucher disease. Molecular Genetics And Metabolism 2025, 144: 108633. DOI: 10.1016/j.ymgme.2024.108633.Peer-Reviewed Original ResearchApoe-Abca1 axis is involved in the pathogenesis of Gaucher disease
Xing S, Nair S, Mistry P. Apoe-Abca1 axis is involved in the pathogenesis of Gaucher disease. Molecular Genetics And Metabolism 2025, 144: 108987. DOI: 10.1016/j.ymgme.2024.108987.Peer-Reviewed Original Research
2024
VavCre mediated conditional deletion of Gba in mice recapitulates human Gaucher disease type 1, a platform to investigate the role of myeloid cells and altered hematopoiesis
Nair S, Belinsky G, Mistry P. VavCre mediated conditional deletion of Gba in mice recapitulates human Gaucher disease type 1, a platform to investigate the role of myeloid cells and altered hematopoiesis. Molecular Genetics And Metabolism 2024, 141: 107978. DOI: 10.1016/j.ymgme.2023.107978.Peer-Reviewed Original Research
2023
Severe pulmonary arterial hypertension in Gaucher disease type 1
Basiri M, Ruan J, Nair S, Guo L, Mistry P. Severe pulmonary arterial hypertension in Gaucher disease type 1. Molecular Genetics And Metabolism 2023, 138: 107021. DOI: 10.1016/j.ymgme.2022.107021.Peer-Reviewed Original ResearchThe risk of hepatocellular carcinoma is markedly increased in Gaucher disease
Basiri M, Ruan J, Nair S, Lau H, Mistry P, Taddei T. The risk of hepatocellular carcinoma is markedly increased in Gaucher disease. Molecular Genetics And Metabolism 2023, 138: 107022. DOI: 10.1016/j.ymgme.2022.107022.Peer-Reviewed Original ResearchSingle cell resolution of neurodegeneration in Gaucher disease
Nair S, Belinsky G, Ruan J, Basiri M, Klinger K, Mistry P. Single cell resolution of neurodegeneration in Gaucher disease. Molecular Genetics And Metabolism 2023, 138: 107233. DOI: 10.1016/j.ymgme.2022.107233.Peer-Reviewed Original Research
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
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Yale School of Medicine
Department of Medicine (Digestive Diseases), PO Box 208019
New Haven, CT 06520-8019
United States