2008
MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repair
Marek LR, Kottemann MC, Glazer PM, Bale AE. MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repair. DNA Repair 2008, 7: 476-486. PMID: 18258493, PMCID: PMC2277339, DOI: 10.1016/j.dnarep.2007.12.009.Peer-Reviewed Original ResearchConceptsGenetic interaction studiesFanconi anemia genesDNA crosslink repairVivo reporter systemLoss of Men1Large deletionsMutation frequencyTumor suppressor geneSame repair processICL sensitivityRepair processSingle base deletionDrosophila geneticsCrosslink repairICL repairGenetic interactionsMutant fliesCell mutantsFA genesHomopolymeric tractsReporter systemWild typeMutantsInteraction studiesSuppressor gene
1988
Tight Linkage between the Syndrome of Generalized Thyroid Hormone Resistance and the Human c-erbAβ Gene
Usala S, Bale A, Gesundheit N, Weinberger C, Lash R, Wondisford F, McBride O, Weintraub B. Tight Linkage between the Syndrome of Generalized Thyroid Hormone Resistance and the Human c-erbAβ Gene. Endocrinology 1988, 2: 1217-1220. PMID: 2905763, DOI: 10.1210/mend-2-12-1217.Peer-Reviewed Original ResearchConceptsThyroid hormone receptorGeneralized thyroid hormone resistanceBiological functionsC-erbA beta geneC-erbA genesHormone receptorsMutant phenotypeGene familyC-erbA betaC-erbA alphaRestriction enzyme analysisGene productsChromosome 3Multiple cDNAsThyroid hormone resistanceHuman syndromesTight linkageBeta locusGenesBeta geneNuclear receptorsLarge deletionsHormone resistanceEnzyme analysisCertain kindreds