2013
Forward genetics identifies Kdf1/1810019J16Rik as an essential regulator of the proliferation–differentiation decision in epidermal progenitor cells
Lee S, Kong Y, Weatherbee SD. Forward genetics identifies Kdf1/1810019J16Rik as an essential regulator of the proliferation–differentiation decision in epidermal progenitor cells. Developmental Biology 2013, 383: 201-213. PMID: 24075906, PMCID: PMC3841015, DOI: 10.1016/j.ydbio.2013.09.022.Peer-Reviewed Original ResearchMeSH Keywords14-3-3 ProteinsAllelesAnimalsBase SequenceCell DifferentiationCell ProliferationCleft PalateEmbryo LossEpidermisFemaleGene Expression Regulation, DevelopmentalGenes, RecessiveGenetic Complementation TestHeterozygoteKeratinocytesMaleMiceMice, Inbred C57BLMolecular Sequence DataPhenotypePhosphoproteinsPoint MutationProtein BindingProteinsRNA SplicingStem CellsTrans-ActivatorsConceptsEpidermal progenitor cellsEssential regulatorProgenitor cellsProliferation-differentiation balanceUnbiased genetic screenCell fate decisionsProliferation-differentiation decisionsCell proliferationUncontrolled cell proliferationFactor 1 geneProgenitor cell proliferationGenetic screenFate decisionsRepressive signalsTerminal fateInductive signalsPremature differentiationGenetic mechanismsInhibition of p63Terminal differentiationCell differentiationEpidermal cellsKDF1Rapid turnoverRate of proliferationNegligible impact of rare autoimmune-locus coding-region variants on missing heritability
Hunt KA, Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, Barrett JC, Blackburn H, Brand O, Burren O, Capon F, Compston A, Gough SC, Jostins L, Kong Y, Lee JC, Lek M, MacArthur DG, Mansfield JC, Mathew CG, Mein CA, Mirza M, Nutland S, Onengut-Gumuscu S, Papouli E, Parkes M, Rich SS, Sawcer S, Satsangi J, Simmonds MJ, Trembath RC, Walker NM, Wozniak E, Todd JA, Simpson MA, Plagnol V, van Heel DA. Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature 2013, 498: 232-235. PMID: 23698362, PMCID: PMC3736321, DOI: 10.1038/nature12170.Peer-Reviewed Original Research
2012
Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing
del Viso F, Bhattacharya D, Kong Y, Gilchrist MJ, Khokha MK. Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing. BMC Genomics 2012, 13: 649. PMID: 23171430, PMCID: PMC3526394, DOI: 10.1186/1471-2164-13-649.Peer-Reviewed Original ResearchConceptsBulk segregant analysisForward genetic screenSegregant analysisGenetic screenGenome assemblyExon captureCausative mutationsVertebrate model systemHigh-throughput sequencingHuman genetic analysisThousands of SNPsAssembly of scaffoldsModel systemGenomic resourcesVertebrate modelXenopus tropicalisFine mappingGenetic analysisCapture sequencingSequence variantsSequencingMutationsRapid discoveryMutantsExome sequencing