2014
A Form of the Metabolic Syndrome Associated with Mutations in DYRK1B
Keramati AR, Fathzadeh M, Go GW, Singh R, Choi M, Faramarzi S, Mane S, Kasaei M, Sarajzadeh-Fard K, Hwa J, Kidd KK, Babaee Bigi MA, Malekzadeh R, Hosseinian A, Babaei M, Lifton RP, Mani A. A Form of the Metabolic Syndrome Associated with Mutations in DYRK1B. New England Journal Of Medicine 2014, 370: 1909-1919. PMID: 24827035, PMCID: PMC4069260, DOI: 10.1056/nejmoa1301824.Peer-Reviewed Original ResearchConceptsKinase-like domainMapping susceptibility genesHistidine 90Disease-causing genesFunctional characterizationDisease genesDYRK1BKey gluconeogenic enzymesGenetic analysisCardiovascular risk traitsWhole-exome sequencingDistinct familiesLinkage analysisSecond mutationPosition 102Susceptibility genesFamily membersLarge familyGenesCausative mutationsUnaffected family membersMutationsFunction activityAffected family membersGluconeogenic enzymes
1996
Molecular Haplotyping of Genetic Markers 10 kb Apart by Allele-Specific Long-Range PCR
Michalatos-Beloin S, Tishkoff S, Bentley K, Kidd K, Ruano G. Molecular Haplotyping of Genetic Markers 10 kb Apart by Allele-Specific Long-Range PCR. Nucleic Acids Research 1996, 24: 4841-4843. PMID: 8972876, PMCID: PMC146303, DOI: 10.1093/nar/24.23.4841.Peer-Reviewed Original ResearchConceptsMolecular haplotypingClassical Mendelian analysisMapping disease genesCD4 locusMolecular haplotypesDisease genesLong-range PCRGenomic samplesFounder effectPolymorphic markersMendelian analysisUnrelated individualsHaplotypingAlu deletionKbRange PCRHaplotypesDiversity researchPopulation samplingPCRChromosomesGenesRepeatsLociDeletion
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
1987
An efficient strategy for gene mapping using multipoint linkage analysis: exclusion of the multiple endocrine neoplasia 2A (MEN2A) locus from chromosome 13.
Farrer L, Goodfellow P, Lamarche C, Franjkovic I, Myers S, White B, Holden J, Kidd J, Simpson N, Kidd K. An efficient strategy for gene mapping using multipoint linkage analysis: exclusion of the multiple endocrine neoplasia 2A (MEN2A) locus from chromosome 13. American Journal Of Human Genetics 1987, 40: 329-37. PMID: 2883889, PMCID: PMC1684085.Peer-Reviewed Original ResearchConceptsMarker lociGenetic mapChromosome 13Red cell enzyme markersMapping disease genesLarger genetic mapMultipoint analysisLinkage mapMultipoint linkage analysisGene mappingDNA markersDisease genesTwo-point analysisLinkage analysisLociMEN2A locusClose linkageEnzyme markersType 2AMultiple endocrine neoplasia type 2ACMorganGenesMarkersMultiple endocrine neoplasia 2AFamily