2024
Copy number variation of metallothionein 1 (MT1) associates with MT1X isoform expression and the overall survival of hepatocellular carcinoma patients in Guangxi
Xu P, Al-Anesi M, Huang M, Wu S, Ge Y, Chai H, Li P, Hu Q. Copy number variation of metallothionein 1 (MT1) associates with MT1X isoform expression and the overall survival of hepatocellular carcinoma patients in Guangxi. Gene Reports 2024, 34: 101889. DOI: 10.1016/j.genrep.2024.101889.Peer-Reviewed Original ResearchHepatocellular carcinoma patientsOverall survivalHepatocellular carcinoma diagnosisCopy number variationsHepatocellular carcinomaCancer tissuesDown-regulationMetallothionein-1Survival of hepatocellular carcinoma patientsEffects of copy number variationPredictors of OSOverall survival of hepatocellular carcinoma patientsMetallothionein-1 geneMetallothionein-1 proteinSimultaneous down-regulationCarcinoma patientsACGH analysisTumor-suppressive effectsNumber variationsIsoform expressionTranslational levelPatientsCancerResults of RT-qPCRGenes
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
2016
Recurrent genetic defects in classical Hodgkin lymphoma cell lines
Hudnall SD, Meng H, Lozovatsky L, Li P, Strout M, Kleinstein SH. Recurrent genetic defects in classical Hodgkin lymphoma cell lines. Leukemia & Lymphoma 2016, 57: 2890-2900. PMID: 27121023, DOI: 10.1080/10428194.2016.1177179.Peer-Reviewed Original ResearchConceptsMitosis-related genesSingle nucleotide variantsCHL cell linesCell linesRecurrent genetic defectsPathogenic single nucleotide variantsHL cell linesMitotic genesChromosome duplicationClassical Hodgkin lymphoma cell linesGenomic instabilityGenetic analysisWhole-exome sequencingNucleotide variantsGenesHodgkin's lymphoma cell linesLymphoma cell linesNumber variantsKaryotypic analysisGenetic defectsWealth of informationPoor growthVariantsDuplicationLinesSpectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples
Zhou Q, Wu SY, Amato K, DiAdamo A, Li P. Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples. Journal Of Genetics And Genomics 2016, 43: 121-131. PMID: 27020032, DOI: 10.1016/j.jgg.2016.02.002.Peer-Reviewed Original ResearchConceptsCopy number variantsIngenuity Pathway AnalysisPathogenic copy number variantsDosage-sensitive genesCell proliferation pathwaysGenomic copy number variantsArray comparative genomic hybridizationGene networksComparative genomic hybridization analysisComparative genomic hybridizationPathway analysisGenomic hybridization analysisChromosomal abnormalitiesHybridization analysisProliferation pathwaysArray comparative genomic hybridization analysisNumber variantsGenomic hybridizationSitu hybridizationGenesHybridizationCytogenomic abnormalitiesCulture successPolyploidySensitive mechanism
2008
Double-minute MYC amplification and deletion of MTAP, CDKN2A, CDKN2B, and ELAVL2 in an acute myeloid leukemia characterized by oligonucleotide-array comparative genomic hybridization
Kamath A, Tara H, Xiang B, Bajaj R, He W, Li P. Double-minute MYC amplification and deletion of MTAP, CDKN2A, CDKN2B, and ELAVL2 in an acute myeloid leukemia characterized by oligonucleotide-array comparative genomic hybridization. Cancer Genetics 2008, 183: 117-120. PMID: 18503831, DOI: 10.1016/j.cancergencyto.2008.02.011.Peer-Reviewed Original ResearchConceptsOligonucleotide array comparative genomic hybridizationComparative genomic hybridizationBacterial artificial chromosome clone probesGenomic imbalancesGenomic hybridizationDouble minutesPVT1 geneChromosomal observationsChromosome XDeletionSitu hybridizationRecurrent chromosomal abnormalitiesGenomic findingsGenesHybridizationMYC probeCDKN2BChromosome analysisCDKN2AMTAPChromosomal abnormalitiesChromosomal analysisELAVL2TRIB1MYC
2003
FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6
Zhang HZ, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, Pober BR. FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. American Journal Of Medical Genetics Part A 2003, 124A: 280-287. PMID: 14708101, DOI: 10.1002/ajmg.a.20413.Peer-Reviewed Original ResearchConceptsChromosome 6Transcription factor FOXC1Nervous system developmentCentral nervous system developmentRing chromosome 6Microsatellite genotypingDevelopmental defectsOphthalmologic abnormalitiesRing 6Central nervous system examinationPhenotype comparisonsSegmental deletionsGenotype-phenotype correlationTerminal regionGene deletionNervous system examinationMixed hearing lossMolecular definitionSitu hybridizationDeletionFusion pointGenesAbnormal physical featuresCerebral dysgenesisFOXC1 gene
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