2019
Efficient genome-wide first-generation phenotypic screening system in mice using the piggyBac transposon
Chang H, Pan Y, Landrette S, Ding S, Yang D, Liu L, Tian L, Chai H, Li P, Li DM, Xu T. Efficient genome-wide first-generation phenotypic screening system in mice using the piggyBac transposon. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 18507-18516. PMID: 31451639, PMCID: PMC6744845, DOI: 10.1073/pnas.1906354116.Peer-Reviewed Original ResearchConceptsPhenotypic screenParticular biological traitsLower model organismsPhenotypic screening systemModel organismsF1 screenMammalian biologyScreening systemBiological traitsMutant animalsGenetic basisDevelopmental defectsPiggyBac transposonFunction mutationsF1 progenySuch screensTransposonNew insertionsMutantsDisease pathogenesisMutationsUnbiased wayScreenUnprecedented opportunitySix1/4
2017
Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia
Wu W, Liu Y, Zhou Q, Wang Q, Luo F, Xu Z, Geng Q, Li P, Zhang HZ, Xie J. Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia. European Journal Of Medical Genetics 2017, 60: 369-373. PMID: 28419882, DOI: 10.1016/j.ejmg.2017.04.008.Peer-Reviewed Original ResearchConceptsFanconi anemiaCopy number lossNovel homozygous mutation c.Copy number aberrationsDifferent genesMutant variantsSomatic gene mutationsGenotype-phenotype correlationBone marrow failureGenesGain of 3qNumber lossSETBP1 geneNumber aberrationsMutationsHomozygous mutation c.Genotype correlationMarrow failureMutation analysisMutation c.Gene mutationsFANCLChromosomal abnormalitiesHeterogeneous disorderSETBP1 mutations
2002
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human α-l-iduronidase (IDUA) gene
Li P, Wood T, Thompson JN. Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human α-l-iduronidase (IDUA) gene. Genetics In Medicine 2002, 4: 420-426. PMID: 12509712, DOI: 10.1097/00125817-200211000-00004.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsSNP allelesPolymorphic allelesDisease-causing mutationsRestriction enzyme assayDiversity of mutationsIDUA geneHaplotype structureCommon haplotype structuresLysosomal glycosidaseEnzyme assaysMolecular studiesPhenotype-genotype correlationGenesNucleotide polymorphismsPCR ampliconsMutationsMutational heterogeneityReverse transcriptional polymerase chain reactionRecurrent mutationsAllelesIduronidase geneDifferent mutationsPolymorphism analysisTranscriptional polymerase chain reaction
1998
Analysis of common mutations and associated haplotypes in Chinese patients with glucose‐6‐phosphate dehydrogenase deficiency
Li P, Thompson J, Wang X, Song L. Analysis of common mutations and associated haplotypes in Chinese patients with glucose‐6‐phosphate dehydrogenase deficiency. IUBMB Life 1998, 46: 1135-1143. PMID: 9891846, DOI: 10.1080/15216549800204692.Peer-Reviewed Original ResearchConceptsCommon mutationsSingle nucleotide polymorphismsPolymorphism lociDifferent allelic distributionFurther haplotype analysisDifferent haplotypesNucleotide polymorphismsMutationsDNA samplesAllelic associationPossible allelic associationLociHaplotype analysisAllelic distributionHaplotypesDehydrogenase deficiencyGlucose-6-phosphate dehydrogenase deficiencyFingerprinting method