2023
A Novel MIP-1-Expressing Macrophage Subtype in BAL Fluid from Healthy Volunteers.
Reyfman PA, Malsin ES, Khuder B, Joshi N, Gadhvi G, Flozak AS, Carns MA, Aren K, Goldberg IA, Kim S, Alexander M, Sporn PHS, Misharin AV, Budinger GRS, Lam AP, Hinchcliff M, Gottardi CJ, Winter DR. A Novel MIP-1-Expressing Macrophage Subtype in BAL Fluid from Healthy Volunteers. American Journal Of Respiratory Cell And Molecular Biology 2023, 68: 176-185. PMID: 36174229, PMCID: PMC9986555, DOI: 10.1165/rcmb.2021-0123oc.Peer-Reviewed Original ResearchConceptsSingle-cell genomic technologiesCell typesSet of genesSingle-cell approachesSingle-cell RNASingle-cell dataSingle-cell studiesAmbient RNAGenomic technologiesMarker genesGene expressionCellular heterogeneityCellular environmentProtein 1RNAMacrophage heterogeneityGenesValuable resourceDistinct subpopulationsMacrophage subtypesHealthy volunteersLung environmentMacrophage subpopulationsMacrophage inflammatory protein-1Inflammatory protein-1
2022
A genomic meta-analysis of clinical variables and their association with intrinsic molecular subsets in systemic sclerosis
Franks JM, Toledo DM, Martyanov V, Wang Y, Huang S, Wood TA, Spino C, Chung L, Denton C, Derrett-Smith E, Gordon JK, Spiera R, Domsic R, Hinchcliff M, Khanna D, Whitfield ML. A genomic meta-analysis of clinical variables and their association with intrinsic molecular subsets in systemic sclerosis. Rheumatology 2022, 62: 19-28. PMID: 35751592, PMCID: PMC9788818, DOI: 10.1093/rheumatology/keac344.Peer-Reviewed Original ResearchConceptsMolecular subsetsIntrinsic subsetInflammatory subsetBaseline demographicsSSc patientsWhite/Caucasian patientsBaseline clinical demographicsAverage disease durationRodnan skin scoreAfrican American/BlackASSET trialUnique gene expression signatureDisease durationGene expression signaturesClinical demographicsParticipant seraSkin scoreSystemic sclerosisValidation cohortClinical variablesCaucasian patientsSpecific therapyAmerican/BlackSkin biopsiesDisease pathogenesis
2015
A candidate gene study reveals association between a variant of the Peroxisome Proliferator-Activated Receptor Gamma (PPAR-γ) gene and systemic sclerosis
Marangoni RG, Korman BD, Allanore Y, Dieude P, Armstrong LL, Rzhetskaya M, Hinchcliff M, Carns M, Podlusky S, Shah SJ, Ruiz B, Hachulla E, Tiev K, Cracowski JL, Varga J, Hayes MG. A candidate gene study reveals association between a variant of the Peroxisome Proliferator-Activated Receptor Gamma (PPAR-γ) gene and systemic sclerosis. Arthritis Research & Therapy 2015, 17: 128. PMID: 25986483, PMCID: PMC4437446, DOI: 10.1186/s13075-015-0641-2.Peer-Reviewed Original ResearchConceptsSystemic sclerosisDiscovery cohortSingle nucleotide polymorphismsPathogenesis of SScNuclear receptor peroxisome proliferator-activated receptor gammaPeroxisome proliferator-activated receptor gammaPotent anti-fibrotic effectsPulmonary arterial hypertensionProliferator-activated receptor gammaAnti-fibrotic effectsRole of PPARGene single nucleotide polymorphismsReceptor gamma geneSSc cohortArterial hypertensionSSc patientsClinical parametersValidation cohortClinical associationsEuropean cohortReceptor gammaPPARG variantsDisease severityIntronic single nucleotide polymorphismC allele