2011
Rare BRCA1 haplotypes including 3’UTR SNPs associated with breast cancer risk
Pelletier C, Speed WC, Paranjape T, Keane K, Blitzblau R, Hollestelle A, Safavi K, van den Ouweland A, Zelterman D, Slack FJ, Kidd KK, Weidhaas JB. Rare BRCA1 haplotypes including 3’UTR SNPs associated with breast cancer risk. Cell Cycle 2011, 10: 90-99. PMID: 21191178, PMCID: PMC3048078, DOI: 10.4161/cc.10.1.14359.Peer-Reviewed Original ResearchConceptsGenetic markersRare haplotypesNew genetic markersBRCA1 3'UTRSequence mutationsMicroRNA bindingFunctional variantsSuch polymorphismsHaplotypesMutationsBRCA1Haplotype analysisPolymorphismSNPsRegion polymorphismsVariantsFunctional polymorphismsBreast cancer subtypesCancer subtypesMarkersBRCA1 haplotypeMiRNALarge populationBRCA1 mutationsBinding
2000
Sequence variability and candidate gene analysis in complex disease: association of µ opioid receptor gene variation with substance dependence
Hoehe M, Köpke K, Wendel B, Rohde K, Flachmeier C, Kidd K, Berrettini W, Church G. Sequence variability and candidate gene analysis in complex disease: association of µ opioid receptor gene variation with substance dependence. Human Molecular Genetics 2000, 9: 2895-2908. PMID: 11092766, DOI: 10.1093/hmg/9.19.2895.Peer-Reviewed Original ResearchConceptsComplex genotype-phenotype relationshipsGenotype-phenotype relationshipsCandidate genesSequence variabilitySequence variantsGene sequence informationDNA sequence variationCandidate gene analysisSpecific sequence variantsPrime candidate geneCombination of variantsSequence comparisonSequence variationSequence informationHuman mu-opioid receptor geneDifferent haplotypesGene analysisGenesComplex diseasesReceptor geneOpioid receptor geneHaplotypesGene variationMultiple individualsModel system