2023
Impaired Early Spliceosome Complex Assembly Underlies Gene Body Elongation Transcription Defect in SF3B1K700E
Boddu P, Gupta A, Roy R, De La Pena Avalos B, Herrero A, Zimmer J, Simon M, Chandhok N, King D, Neuenkirchen N, Dray E, Lin H, Kupfer G, Verma A, Neugebauer K, Pillai M. Impaired Early Spliceosome Complex Assembly Underlies Gene Body Elongation Transcription Defect in SF3B1K700E. Blood 2023, 142: 714. DOI: 10.1182/blood-2023-187303.Peer-Reviewed Original ResearchSplicing factorsChIP-seqK562 cell lineKey regulatory genesCell linesSingle mutant alleleNon-denaturing gelsAlternative splicingTranscriptional kineticsRegulatory genesSpliceosome assemblySplicing efficiencyMRNA splicingCRISPR/Progenitor populationsNeomorphic functionsMolecular mechanismsMutant allelesIsoform changesGene editingNovel mechanismMutationsSF mutationsRecurrent mutationsAssembly kinetics
2021
Ultradeep sequencing differentiates patterns of skin clonal mutations associated with sun-exposure status and skin cancer burden
Wei L, Christensen SR, Fitzgerald ME, Graham J, Hutson ND, Zhang C, Huang Z, Hu Q, Zhan F, Xie J, Zhang J, Liu S, Remenyik E, Gellen E, Colegio OR, Bax M, Xu J, Lin H, Huss WJ, Foster BA, Paragh G. Ultradeep sequencing differentiates patterns of skin clonal mutations associated with sun-exposure status and skin cancer burden. Science Advances 2021, 7: eabd7703. PMID: 33523857, PMCID: PMC7775785, DOI: 10.1126/sciadv.abd7703.Peer-Reviewed Original ResearchConceptsSkin cancer riskCancer burdenCancer riskCutaneous squamous cell carcinomaNormal human skin samplesClonal mutationsCarcinogenic effectsSun-exposure statusSquamous cell carcinomaSkin cancer burdenCell carcinomaClonal cell growthNormal skinHuman skin samplesUV exposureUltradeep sequencingUV-induced mutationsSkin samplesCell growthSkinBurdenRiskMutationsExposureUV damage
2015
Poreless eggshells
Lin H, Matzuk MM. Poreless eggshells. Journal Of Clinical Investigation 2015, 125: 4005-4007. PMID: 26485282, PMCID: PMC4639988, DOI: 10.1172/jci84692.Peer-Reviewed Original ResearchConceptsNuclear pore complex functionMissense mutationsSpecific amino acid changesAmino acid changesRecessive missense mutationSomatic cellsNucleoporin 107Human mutationsGenetic materialAcid changesExtragonadal functionsOvarian developmentOocyte developmentMutationsGenesSole sourceFemale genetic materialIntrinsic factorsComplex functionsOrthologsAbnormal ovarian developmentFollicular developmentEmbryosFliesOocytes