1997
A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1
Breschel T, McInnis M, Margolis R, Sirugo G, Corneliussen B, Simpson S, McMahon F, MacKinnon D, Xu J, Pleasant N, Huo Y, Ashworth R, Grundstrom C, Grundstrom T, Kidd K, DePaulo J, Ross C. A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1. Human Molecular Genetics 1997, 6: 1855-1863. PMID: 9302263, DOI: 10.1093/hmg/6.11.1855.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBase SequenceBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsBipolar DisorderBlotting, SouthernCell LineChromosomes, Human, Pair 18Cloning, MolecularDNA-Binding ProteinsFemaleGene FrequencyHelix-Loop-Helix MotifsHumansIntronsMaleMolecular Sequence DataPedigreeSequence AnalysisTCF Transcription FactorsTrans-ActivatorsTranscription Factor 4Transcription Factor 7-Like 2 ProteinTranscription FactorsTrinucleotide RepeatsConceptsCEPH reference pedigreesSouthern blot analysisReference pedigreesUnstable alleleDNA binding proteinTriplet repeat mutationBlot analysisCTG repeatsTranscriptional regulationGenomic digestsHuman chromosomesKb cloneStable allelesCandidate genesAbnormal phenotypeBinding proteinRepeatsRepeat lociBipolar pedigreesGenesChromosome 18q21.1Repeat mutationsSomatic mutationsIntronsAlleles
1989
The mapping of the locus for multiple endocrine neoplasia type 2A by linkage with chromosome 10 markers.
Simpson N, Kidd K. The mapping of the locus for multiple endocrine neoplasia type 2A by linkage with chromosome 10 markers. Hormone And Metabolic Research. Supplement Series 1989, 21: 5-9. PMID: 2572529.Peer-Reviewed Original ResearchConceptsDisease locusInterstitial retinol-binding proteinChromosome 10 markersTest of linkageChromosome 10Disease genesDeletion siteChromosome 20Additional family dataBinding proteinLociGenesExclusion of linkageSitu hybridizationD10S5Ultimate identificationRetinol-binding proteinType 2AMultiple endocrine neoplasia type 2AGenomeMarkersFamily dataLinkageProteinHybridization