Jianlei Gu
Associate Research Scientist in BiostatisticsCards
About
Research
Publications
2025
PERADIGM: Phenotype embedding similarity-based rare disease gene mapping
Zheng W, Xie Y, Gu J, Li H, Somlo S, Besse W, Zhao H. PERADIGM: Phenotype embedding similarity-based rare disease gene mapping. PLOS Genetics 2025, 21: e1011976. PMID: 41411243, PMCID: PMC12714201, DOI: 10.1371/journal.pgen.1011976.Peer-Reviewed Original ResearchConceptsRare disease geneticsDisease gene discoveryAutosomal dominant polycystic kidney diseaseComprehensive phenotypic informationDisease geneticsGene discoveryGene mappingPhenotypic informationIndividual phenotypesElectronic health recordsBinary disease statusDisease-specific phenotypesDominant polycystic kidney diseaseGenesPhenotypePolycystic kidney diseaseUK Biobank datasetNeurofibromatosis type 1Precision medicineHealth recordsBiobank datasetICD-10Association methodStatistical powerRare diseaseGlis3 Is a Modifier of Cyst Progression in Autosomal Dominant Polycystic Kidney Disease
Wei Z, Gu J, Tian X, Zhang C, Zhao H, Somlo S. Glis3 Is a Modifier of Cyst Progression in Autosomal Dominant Polycystic Kidney Disease. Journal Of The American Society Of Nephrology 2025 DOI: 10.1681/asn.0000000980.Peer-Reviewed Original ResearchPolycystin-1Autosomal dominant polycystic kidney diseaseRNA-seqAllelic seriesTranscription factorsPolycystin-2Polycystic kidney diseaseIn vivo genetic interactionChromatin accessibility assaysDominant polycystic kidney diseaseChromatin accessibility analysesPolycystin-1 expressionRibosome affinity purificationPolycystin signalingATAC-seqFatty acid metabolismGenetic interactionsCiliary localizationGene familyLive cell imagingEpithelial cell metabolismAffinity purificationGenetic relationshipsEarly effectorsProtein expression studiesPdgfrα deficiency in islet β-cells up-regulates apoptosis of beta-cells and disturbs glucose metabolism in B6 mice
Zhang L, Xing Y, Wang P, Gu J, Peng J, Huang J, Pearson J, Hu Y, Zhao H, Wong F, Wen L. Pdgfrα deficiency in islet β-cells up-regulates apoptosis of beta-cells and disturbs glucose metabolism in B6 mice. Frontiers In Endocrinology 2025, 16: 1630979. PMID: 41234234, PMCID: PMC12605365, DOI: 10.3389/fendo.2025.1630979.Peer-Reviewed Original ResearchConceptsB cell apoptosisB cell functionApoptosis of beta-cellsAminoacyl-tRNA synthetasesB cellsGlucose metabolismType 2 diabetesExpression of Gadd45bB cell-specificB cell survivalPI3K pathwayInsulin contentApoptotic pathwayInsulin biosynthesisHigh-fat diet conditionsDownstream effectorsSignaling pathwayIslet B-cell functionB-cell dysfunctionBeta-cellsATF5 expressionK pathwayB cell proliferationDevelopment of type 2 diabetesApoptosisCorrection: Single-nucleus RNA sequencing reveals distinct pathophysiological trophoblast signatures in spontaneous preterm birth subtypes
Uhm C, Gu J, Ju W, Pizzella S, Oktay H, Peng J, Guariglia S, Liu Y, Zhao H, Wang Y, Menon R, Zhong N. Correction: Single-nucleus RNA sequencing reveals distinct pathophysiological trophoblast signatures in spontaneous preterm birth subtypes. Cell & Bioscience 2025, 15: 90. PMID: 40571915, PMCID: PMC12203711, DOI: 10.1186/s13578-025-01421-x.Peer-Reviewed Original ResearchTumor microenvironment of non-small cell lung cancer impairs immune cell function among people with HIV
Desai S, Salahuddin S, Yusuf R, Ranjan K, Gu J, Osmani L, Lin Y, Mehta S, Talmon R, Kang I, Kluger Y, Zhao H, Schalper K, Emu B. Tumor microenvironment of non-small cell lung cancer impairs immune cell function among people with HIV. Journal Of Clinical Investigation 2025, 135: e177310. PMID: 40459946, PMCID: PMC12259253, DOI: 10.1172/jci177310.Peer-Reviewed Original ResearchNon-small cell lung cancerTumor microenvironmentImmune cellsLung cancerCohort of non-small cell lung cancerExpression of PD-1Impairs anti-tumor responsesTumor-infiltrating CD8+Tumor-specific immune responsesCD4+ T cellsHIV-associated tumorsInfiltrating CD8+Expression of immunoregulatory moleculesAnti-tumor responsesTumor-associated macrophagesCell lung cancerImmune cell functionNSCLC cell linesPD-1Tumor killingBlocker therapyCD8+LAG-3Immune landscapeImmunoregulatory phenotypeSingle-nucleus RNA sequencing reveals distinct pathophysiological trophoblast signatures in spontaneous preterm birth subtypes
Uhm C, Gu J, Ju W, Pizzella S, Oktay H, Peng J, Guariglia S, Liu Y, Zhao H, Wang Y, Menon R, Zhong N. Single-nucleus RNA sequencing reveals distinct pathophysiological trophoblast signatures in spontaneous preterm birth subtypes. Cell & Bioscience 2025, 15: 1. PMID: 39773245, PMCID: PMC11705668, DOI: 10.1186/s13578-024-01343-0.Peer-Reviewed Original ResearchSpontaneous preterm birthPreterm birthExtravillous trophoblastDevelopment of spontaneous preterm birthOutcomes associated with preterm birthSingle-nucleus RNA sequencingMaternal-fetal interfacePreterm birth subtypesImmune cell recruitmentSmooth muscle contractionDevelopment of effective therapeutic strategiesEffective therapeutic strategyMatrix metalloproteinase activityPremature ruptureNeurodevelopmental outcomesTumor necrosis factor signalingPlacental trophoblastsPathological developmentVascular dysregulationNeonatal healthPPROMCell recruitmentHeightened inflammationTherapeutic strategiesVascular remodeling
2024
Ryanodine Receptor 3 (RYR3) as a Candidate Modifier of Aneurysm Formation in ADPKD
Roy K, Gulati A, Gu J, Shaw M, Sun Z, Besse W, Watnick T, Somlo S. Ryanodine Receptor 3 (RYR3) as a Candidate Modifier of Aneurysm Formation in ADPKD. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024xfh9af06. DOI: 10.1681/asn.2024xfh9af06.Peer-Reviewed Original ResearchTlr9 deficiency in B cells leads to obesity by promoting inflammation and gut dysbiosis
Wang P, Yang X, Zhang L, Sha S, Huang J, Peng J, Gu J, Pearson J, Hu Y, Zhao H, Wong F, Wang Q, Wen L. Tlr9 deficiency in B cells leads to obesity by promoting inflammation and gut dysbiosis. Nature Communications 2024, 15: 4232. PMID: 38762479, PMCID: PMC11102548, DOI: 10.1038/s41467-024-48611-8.Peer-Reviewed Original ResearchConceptsToll-like receptor 9Gut microbiotaGut microbial communityTransferred to germ-free miceB cellsGerm-free miceTLR9 deficiencyKO miceGene sequencesGerminal center B cellsMicrobial communitiesMarginal zone B cellsGut dysbiosisFollicular helper cellsSelf-DNAMetabolic homeostasisAssociated with increased frequencyPro-inflammatory stateFat tissue inflammationGutHigh-fat dietMicrobiotaHelper cellsT cellsControl miceGlis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease
Zhang C, Rehman M, Tian X, Pei S, Gu J, Bell T, Dong K, Tham M, Cai Y, Wei Z, Behrens F, Jetten A, Zhao H, Lek M, Somlo S. Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease. Nature Communications 2024, 15: 3698. PMID: 38693102, PMCID: PMC11063051, DOI: 10.1038/s41467-024-48025-6.Peer-Reviewed Original ResearchConceptsMouse models of autosomal dominant polycystic kidney diseaseModel of autosomal dominant polycystic kidney diseasePolycystin signalingAutosomal dominant polycystic kidney diseasePolycystin-1Polycystic kidney diseaseTreat autosomal dominant polycystic kidney diseaseGlis2Primary ciliaKidney tubule cellsSignaling pathwayMouse modelDominant polycystic kidney diseasePotential therapeutic targetTranslatomeAntisense oligonucleotidesKidney diseasePolycystinMouse kidneyFunctional effectorsCyst formationTherapeutic targetInactivationFunctional targetPharmacological targets
2023
Objective Analysis and Clinical Significance of the Spatial Tumor-Infiltrating Lymphocyte Patterns in Non-Small Cell Lung Cancer.
Lopez de Rodas M, Wang Y, Peng G, Gu J, Mino-Kenudson M, Riess J, Velcheti V, Hellmann M, Gainor J, Zhao H, Schalper K. Objective Analysis and Clinical Significance of the Spatial Tumor-Infiltrating Lymphocyte Patterns in Non-Small Cell Lung Cancer. Clinical Cancer Research 2023, 30: 998-1008. PMID: 38127300, PMCID: PMC10922461, DOI: 10.1158/1078-0432.ccr-23-2457.Peer-Reviewed Original ResearchNon-small cell lung cancerTIL subsetsCell lung cancerImmune evasion mechanismsSubset of casesLymphocyte infiltration patternsPathology-based approachStrong biomarker potentialTIL markersNSCLC patientsImmunotherapy outcomesLymphocyte patternsLung cancerTumor bedWorse outcomesClinical significanceMost tumorsEvasion mechanismsStromal tissueTumor samplesMultiplexed immunofluorescenceBiomarker potentialTumorsInfiltration patternsImmunotherapy
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