2016
Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations
ZIAI J, MATLOFF E, CHOI J, KOMBO N, MATERIN M, BALE AE. Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations. Genetics Research 2016, 98: e5. PMID: 26947005, PMCID: PMC6865171, DOI: 10.1017/s0016672316000021.Peer-Reviewed Original ResearchConceptsMixed polyposisExtensive genetic testingComprehensive clinical evaluationColorectal cancer phenotypeCancer phenotypeHereditary colon cancerAutosomal dominant conditionClinical evaluationAshkenazi patientsColon cancer phenotypeColon cancerJuvenile polypsJewish patientsAshkenazi Jewish familiesGenetic testingPolyposisPatientsDominant conditionColon cancer genesPrevious reportsPhenotypeCancer genesManagement recommendations
2004
Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1
Busygina V, Suphapeetiporn K, Marek LR, Stowers RS, Xu T, Bale AE. Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1. Human Molecular Genetics 2004, 13: 2399-2408. PMID: 15333582, DOI: 10.1093/hmg/ddh271.Peer-Reviewed Original ResearchConceptsDNA cross-linking agentsNucleotide excision repairDNA damage-induced mutationsTumor suppressor geneDamage-induced mutationsDrosophila homologGenomic integrityHuman meninMutant fliesBiochemical functionsTranscriptional modulationNuclear proteinsDrosophila modelProtein 50Novel memberExcision repairNull allelesMolecular mechanismsCancer genesHistone deacetylaseSuppressor geneHomozygous inactivationMnn1Normal fliesGenes