2023
Profilin1 is required to prevent mitotic catastrophe in murine and human glomerular diseases
Tian X, Pedigo C, Li K, Ma X, Bunda P, Pell J, Lek A, Gu J, Zhang Y, Rangel P, Li W, Schwartze E, Nagata S, Lerner G, Perincheri S, Priyadarshini A, Zhao H, Lek M, Menon M, Fu R, Ishibe S. Profilin1 is required to prevent mitotic catastrophe in murine and human glomerular diseases. Journal Of Clinical Investigation 2023, 133: e171237. PMID: 37847555, PMCID: PMC10721156, DOI: 10.1172/jci171237.Peer-Reviewed Original ResearchConceptsProteinuric kidney diseaseKidney diseasePodocyte lossHuman glomerular diseasesMitotic catastrophePodocyte cell cycleSevere proteinuriaCell cycle reentryKidney failureGlomerular diseaseCell cycleKidney tissueG1/S checkpointUnsuccessful repairCyclin D1Glomerular integrityIrregular nucleiTissue-specific lossMouse podocytesPodocytesAltered expressionDiseaseCyclin B1Ribosome affinity purificationMultinucleated cells
2021
A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR
Xu M, Mehl L, Zhang T, Thakur R, Sowards H, Myers T, Jessop L, Chesi A, Johnson M, Wells A, Michael H, Bunda P, Jones K, Higson H, Hennessey R, Jermusyk A, Kovacs M, Landi M, Iles M, Goldstein A, Consortium M, Choi J, Chanock S, Grant S, Chari R, Merlino G, Law M, Brown K. A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR. American Journal Of Human Genetics 2021, 108: 1611-1630. PMID: 34343493, PMCID: PMC8456165, DOI: 10.1016/j.ajhg.2021.07.002.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBasic Helix-Loop-Helix Transcription FactorsCarcinogenesisCarcinoma, Squamous CellChromatinChromosomes, Human, Pair 7Gene Expression RegulationGenetic LociGenetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyHumansMelanocytesMelanomaPolychlorinated DibenzodioxinsPolymorphism, Single NucleotidePrimary Cell CulturePromoter Regions, GeneticReceptors, Aryl HydrocarbonSkin NeoplasmsSunbathingUltraviolet RaysConceptsGenome-wide association studiesAryl hydrocarbon receptorMelanoma genome‐wide association studiesCellular responsesFunctional variantsLikely causal genesChromatin state annotationCandidate causal variantsHydrocarbon receptorMelanoma susceptibility genesGrowth phenotypeAhR expressionCausal genesPrimary melanocytesCausal variantsLead SNPRisk lociAhR bindingAssociation studiesGrowth arrestLuciferase assaySusceptibility genesCell growthKey environmental exposuresLoci