2011
Functional and physical interaction between the mismatch repair and FA-BRCA pathways
Williams SA, Wilson JB, Clark AP, Mitson-Salazar A, Tomashevski A, Ananth S, Glazer PM, Semmes OJ, Bale AE, Jones NJ, Kupfer GM. Functional and physical interaction between the mismatch repair and FA-BRCA pathways. Human Molecular Genetics 2011, 20: 4395-4410. PMID: 21865299, PMCID: PMC3196888, DOI: 10.1093/hmg/ddr366.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAnimalsCell LineDNA Mismatch RepairDrosophilaFanconi AnemiaFanconi Anemia Complementation Group ProteinsHCT116 CellsHeLa CellsHumansMiceMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsProtein BindingSignal TransductionUbiquitin-Protein LigasesConceptsFA cell linesFA-BRCA pathwayInterstrand crosslinksCell linesFanconi anemiaRepair of ICLsDNA interstrand crosslinksMsh2-deficient cellsFANCD2 monoubiquitylationMMR protein MSH2Chromatin localizationChromatin loadingICL repairDrosophila mutantsHuman cell linesEpistatic relationshipFA pathwayMouse cellsFANCD2Foci formationMismatch repairBone marrow failureRadial formationMonoubiquitylationPhysical interaction
2010
Functional and Physical Interaction Between the Mismatch Repair and the FA-BRCA Pathways.
Williams S, Wilson J, Clark A, Mitson-Salazar A, Bale A, Jones N, Kupfer G. Functional and Physical Interaction Between the Mismatch Repair and the FA-BRCA Pathways. Blood 2010, 116: 3370. DOI: 10.1182/blood.v116.21.3370.3370.Peer-Reviewed Original ResearchFA-BRCA pathwayFA cell linesFANCD2 foci formationFanconi anemiaFA proteinsMMR pathwayRepair proteinsCell linesInterstrand crosslinksFoci formationMonoubiquitylation of FANCD2Mismatch repairMismatch repair proteinsFA pathway activationMismatch repair factorsColon carcinoma cell line HCT116DNA interstrand crosslinksMsh2-deficient cellsPossible functional overlapHuman colon carcinoma cell line HCT116Plasmid-based assayChromosome breakage analysisChromatin localizationChromatin loadingRNAi flies
1993
Cutaneous malignant melanoma and atypical moles associated with a constitutional rearrangement of chromosomes 5 and 9
Petty E, Bolognia J, Bale A, Yang‐Feng T. Cutaneous malignant melanoma and atypical moles associated with a constitutional rearrangement of chromosomes 5 and 9. American Journal Of Medical Genetics 1993, 45: 77-80. PMID: 8418665, DOI: 10.1002/ajmg.1320450119.Peer-Reviewed Case Reports and Technical NotesConceptsHereditary cutaneous malignant melanomaCutaneous malignant melanomaMalignant melanomaMultiple primary melanomasMelanoma tumor tissuesUnbalanced reciprocal translocationPrimary melanomaFamily historyTumor tissueMelanomaCell linesLarge kindredChromosome 9pKindredsReciprocal translocationMolecular studiesShort armNumerous studiesChromosome 5