2024
TET3-overexpressing macrophages promote endometriosis
Lv H, Liu B, Dai Y, Li F, Bellone S, Zhou Y, Mamillapalli R, Zhao D, Venkatachalapathy M, Hu Y, Carmichael G, Li D, Taylor H, Huang Y. TET3-overexpressing macrophages promote endometriosis. Journal Of Clinical Investigation 2024, 134: e181839. PMID: 39141428, PMCID: PMC11527447, DOI: 10.1172/jci181839.Peer-Reviewed Original ResearchDisease-associated macrophagesTET3 overexpressionHuman endometriosis lesionsPathophysiology of endometriosisPro-inflammatory cytokine productionChronic inflammatory diseaseReproductive age womenEndometriosis lesionsE3 ubiquitin ligasePathogenic macrophagesCytokine productionEndometriosisInflammatory diseasesTET3 knockdownEndometriosis progressionPathogenic contributorsLet-7 miRNA expressionAge womenMacrophagesMouse macrophagesTherapeutic targetUbiquitin ligaseTET3MiceDisease
2021
Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease
Drelichman G, Escobar N, Soberon B, Basack N, Frabasil J, Schenone A, Aguilar G, Larroudé M, Knight J, Zhao D, Ruan J, Mistry PK, Disease A. Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease. Molecular Genetics And Metabolism Reports 2021, 29: 100820. PMID: 34820281, PMCID: PMC8600149, DOI: 10.1016/j.ymgmr.2021.100820.Peer-Reviewed Original ResearchSevere skeletal manifestationsDiagnóstico y tratamientoSevere skeletal phenotypeGenotype/phenotype correlationGrupo ArgentinoNational cohortDisease manifestationsSkeletal manifestationsGaucher diseaseSkeletal diseaseLarge burdenDiseaseSkeletal phenotypePhenotype correlationComplex allelesArgentine groupCollaborative studyManifestationsChildhoodCollaborative groupsGroupHigh frequencyCohort
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