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
1998
Short tandem repeat polymorphism evolution in humans
Calafell F, Shuster A, Speed W, Kidd J, Kidd K. Short tandem repeat polymorphism evolution in humans. European Journal Of Human Genetics 1998, 6: 38-49. PMID: 9781013, DOI: 10.1038/sj.ejhg.5200151.Peer-Reviewed Original ResearchConceptsDinucleotide short tandem repeat polymorphismsStepwise mutation modelSet of populationsPrivate allelesShort tandem repeat polymorphismsGenetic distanceHigh heterozygosityGenetic variationLinkage analysisMutation modelPolymorphism evolutionTandem repeat polymorphismEuropean populationsModern humansHeterozygosityAllelesRepeat polymorphismAfrican sampleReplacement hypothesisEast AsiansDifferentiationHumansPolymorphismPopulationTrees
1995
An international two–stage genome–wide search for schizophrenia susceptibility genes
Moises H, Yang L, Kristbjarnarson H, Wiese C, Byerley W, Macciardi F, Arolt V, Blackwood D, Liu X, Sjögren B, Aschauer H, Hwu H, Jang K, Livesley W, Kennedy J, Zoega T, Ivarsson O, Bui M, Yu M, Havsteen B, Commenges D, Weissenbach J, Schwinger E, Gottesman I, Pakstis A, Wetterberg L, Kidd K, Helgason T. An international two–stage genome–wide search for schizophrenia susceptibility genes. Nature Genetics 1995, 11: 321-324. PMID: 7581457, DOI: 10.1038/ng1195-321.Peer-Reviewed Original ResearchConceptsGenome-wide searchChromosome 6pIDDM susceptibility genesModel-free linkage analysisSchizophrenia susceptibility genesFine mappingOligogenic transmissionAssociation studiesLinkage analysisGeographical isolatesLinkage findingsSusceptibility genesGenesLocus heterogeneityLarge pedigreeComplex disorderSecond International Collaborative StudyComplex modesHLA regionMultifactorial diseaseLinkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population
Baldwin C, Weiss S, Farrer L, De Stefano A, Adair R, Franklyn B, Kidd K, Korostishevsky M, Bonné-Tamir B. Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Human Molecular Genetics 1995, 4: 1637-1642. PMID: 8541853, DOI: 10.1093/hmg/4.9.1637.Peer-Reviewed Original ResearchConceptsHuman chromosome 7q31Genetic linkage analysisNon-syndromic deafnessChromosomal locationGene locationNon-syndromic formsRecessive non-syndromic deafnessLinkage analysisChromosome 7q31Nonallelic mutationsGenetic isolateLarge familyLOD scoreGenetic heterogeneityGenetic causeRecessive deafnessGenesRecognizable phenotypeFirst evidenceDruze familyFamilyAffected individualsSpecific patternsMutationsPhenotypeAssignment of the 5HT7 receptor gene (HTR7) to chromosome 10q and exclusion of genetic linkage with tourette syndrome
Gelernter J, Rao P, Pauls D, Hamblin M, Sibley D, Kidd K. Assignment of the 5HT7 receptor gene (HTR7) to chromosome 10q and exclusion of genetic linkage with tourette syndrome. Genomics 1995, 26: 207-209. PMID: 7601444, DOI: 10.1016/0888-7543(95)80202-w.Peer-Reviewed Original ResearchConceptsGenetic linkageSomatic cell hybridsInteresting candidate genesPairwise linkage analysisCell hybridsNovel serotonin receptorCandidate genesChromosome 10Linkage analysisSouthern blotGenesExtended pedigreesLOD scoreReceptor geneLociGenetic polymorphismsHTR7PolymorphismReceptorsLIPED computer programDNALinkageHybridizationNeuropsychiatric disordersPedigree
1993
Alleles at the dopamine D4 receptor locus do not contribute to the genetic susceptibility to schizophrenia in a large Swedish kindred
Barr C, Kennedy J, Lichter J, Van Tol H, Wetterberg L, Livak K, Kidd K. Alleles at the dopamine D4 receptor locus do not contribute to the genetic susceptibility to schizophrenia in a large Swedish kindred. American Journal Of Medical Genetics 1993, 48: 218-222. PMID: 8135305, DOI: 10.1002/ajmg.1320480409.Peer-Reviewed Original ResearchConceptsChromosome 11p15.5Receptor geneImperfect direct repeatsDopamine D4 receptor locusD4 receptor geneTyrosine hydroxylase locusDopamine D4 receptor geneSingle haplotypeFirst intronSequence variationCandidate genesG nucleotidesDirect repeatsReceptor locusGenetic markersThird exonLinkage analysisPolymorphic markersGenetic susceptibilityGenesLociClose linkageDRD4 locusAllelesRepeatsAssignment of the norepinephrine transporter protein (NET1) locusto chromosome 16
Gelernter J, Kruger S, Pakstis A, Pacholczyk T, Sparkes R, Kidd K, Amara S. Assignment of the norepinephrine transporter protein (NET1) locusto chromosome 16. Genomics 1993, 18: 690-692. PMID: 7905857, DOI: 10.1016/s0888-7543(05)80375-1.Peer-Reviewed Original ResearchMeSH KeywordsCarrier ProteinsChromosome MappingChromosomes, Human, Pair 16Deoxyribonucleases, Type II Site-SpecificDNA, ComplementaryGenetic LinkageGenetic MarkersHumansNorepinephrineNorepinephrine Plasma Membrane Transport ProteinsPolymorphism, Restriction Fragment LengthRestriction MappingSymportersConceptsNorepinephrine transporter proteinSomatic cell hybrid panelCell hybrid panelHybrid panelHP locusCEPH familiesLarge multigenerational familyTransporter proteinsLinkage analysisChromosome 16Provisional assignmentLinkage dataLociMultigenerational familiesGenetic polymorphismsSite of actionPreliminary assignmentNet1FamilyProteinRFLPSitesPolymorphismPCRLocalizationGenetic and Physical Mapping of the Treacher Collins Syndrome Locus with Respect to Loci in the Chromosome 5q3 Region
Jabs E, Li X, Lovett M, Yamaoka L, Taylor E, Speer M, Coss C, Cadle R, Hall B, Brown K, Kidd K, Dolganov G, Polymeropoulos M, Meyers D. Genetic and Physical Mapping of the Treacher Collins Syndrome Locus with Respect to Loci in the Chromosome 5q3 Region. Genomics 1993, 18: 7-13. PMID: 8276417, DOI: 10.1006/geno.1993.1420.Peer-Reviewed Original ResearchConceptsTCOF1 locusTreacher Collins syndrome locusLinkage analysisHighest maximum lod scorePhysical mapping dataOrder of lociCraniofacial developmental disorderMultipoint linkage analysisGenetic distancePhysical mappingYAC clonesCEPH familiesMaximum lod scoreSyndrome locusLociLOD scoreMapping dataHaplotype analysisTreacher Collins syndromeSyndrome familiesFamilyTCOF1Developmental disordersGenesClones
1992
A high-resolution meiotic mapping panel for the pericentromeric region of chromosome 10
Lichter J, Wu J, Miller D, Goodfellow P, Kidd K. A high-resolution meiotic mapping panel for the pericentromeric region of chromosome 10. Genomics 1992, 13: 607-612. PMID: 1353475, DOI: 10.1016/0888-7543(92)90131-b.Peer-Reviewed Original ResearchExclusion of Linkage Between the Serotonin2 Receptor and Schizophrenia in a Large Swedish Kindred
Hallmayer J, Kennedy J, Wetterberg L, Sjögren B, Kidd K, Cavalli-Sforza L. Exclusion of Linkage Between the Serotonin2 Receptor and Schizophrenia in a Large Swedish Kindred. JAMA Psychiatry 1992, 49: 216-219. PMID: 1348924, DOI: 10.1001/archpsyc.1992.01820030048006.Peer-Reviewed Original Research
1990
Genetic and physical mapping and population studies of a fibronectin receptor β-subunit-like sequence on human chromosome 19
Giuffra L, Lichter P, Wu J, Kennedy J, Pakstis A, Rogers J, Kidd J, Harley H, Jenkins T, Ward D, Kidd K. Genetic and physical mapping and population studies of a fibronectin receptor β-subunit-like sequence on human chromosome 19. Genomics 1990, 8: 340-346. PMID: 1979054, DOI: 10.1016/0888-7543(90)90291-2.Peer-Reviewed Original ResearchConceptsChromosome 19Human chromosome 19Chromosome 10 (PTEN) geneHuman fibronectin receptorChromosome 10 markersInsertion of partDifferent polymorphic lociPericentromeric regionCDNA clonesPhysical mappingPolymorphic lociChromosome 10Dominant polymorphismBeta subunitLinkage analysisShort armFibronectin receptorSitu hybridizationCodominant systemsGenesSecond polymorphismReceptor βPolymorphismCDNALociLinkage relationships of human arginine vasopressin-neurophysin-II and oxytocin-neurophysin-I to prodynorphin and other loci on chromosome 20.
Summar M, Phillips J, Battey J, Castiglione C, Kidd K, Maness K, Weiffenbach B, Gravius T. Linkage relationships of human arginine vasopressin-neurophysin-II and oxytocin-neurophysin-I to prodynorphin and other loci on chromosome 20. Endocrinology 1990, 4: 947-50. PMID: 1978246, DOI: 10.1210/mend-4-6-947.Peer-Reviewed Original ResearchConceptsLinkage relationshipsChromosome 20Restriction fragment length polymorphismCentre d'Etude du Polymorphisme Humain (CEPH) collectionFragment length polymorphismShort armAnonymous DNA segmentsSomatic cell hybridsLength polymorphismDistal short armSame neurosecretory granulesStructural geneTranscriptional associationsHuman genomeCell hybridsDNA segmentsLocus mapsMultilocus linkage analysisClose physical relationshipLinkage analysisSouthern blotOdds (LOD) scoreLociGenesClose linkageThe locus for the medium-chain acyl-CoA dehydrogenase gene on chromosome 1 is highly polymorphic
Kidd J, Matsubara Y, Castiglione C, Tanaka K, Kidd K. The locus for the medium-chain acyl-CoA dehydrogenase gene on chromosome 1 is highly polymorphic. Genomics 1990, 6: 89-93. PMID: 1968047, DOI: 10.1016/0888-7543(90)90451-y.Peer-Reviewed Original ResearchConceptsRestriction fragment length polymorphismMedium-chain acyl-CoA dehydrogenase (MCAD) geneAcyl-CoA dehydrogenase geneSomatic cell studiesMedium-chain acyl-CoA dehydrogenaseSignificant linkage disequilibriumAcyl-CoA dehydrogenaseLinkage mappingDehydrogenase geneRegional assignmentChromosome 1Fragment length polymorphismGenetic studiesLinkage analysisLinkage disequilibriumSitu hybridizationLength polymorphismLinkage studiesPGM1Clinical genetic studiesACADMGenesLociCell localizationRFLP systems
1989
The β subunit locus of the human fibronectin receptor: DNA restriction fragment length polymorphism and linkage mapping studies
Wu J, Giuffra L, Goodfellow P, Myers S, Carson N, Anderson L, Hoyle L, Simpson N, Kidd K. The β subunit locus of the human fibronectin receptor: DNA restriction fragment length polymorphism and linkage mapping studies. Human Genetics 1989, 83: 383-390. PMID: 2572537, DOI: 10.1007/bf00291386.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingChromosomes, Human, Pair 1Chromosomes, Human, Pair 10Chromosomes, Human, Pair 17Chromosomes, Human, Pair 21DNADNA ProbesDNA, NeoplasmFemaleGenetic LinkageGenetic MarkersHaplotypesHumansMaleMultiple Endocrine NeoplasiaPolymorphism, Restriction Fragment LengthReceptors, FibronectinReceptors, ImmunologicConceptsRestriction fragment length polymorphismHuman fibronectin receptorCDNA clonesFragment length polymorphismLinkage analysisDNA restriction fragment length polymorphismsMultiple restriction fragment length polymorphismsPolymorphism information content (PIC) valuesFibronectin receptorHighest polymorphism information content valuePartial cDNA cloneInformation content valuesLength polymorphismLinkage studiesPairwise linkage analysisSouthern blot analysisTypes of polymorphismsChromosome 10 markersGenomic clonesPericentromeric regionTransmembrane proteinDNA markersGenetic linkage studiesDNA sequencesSingle locus
1988
A linkage group of five DNA markers on human chromosome 10
Farrer L, Castiglione C, Kidd J, Myers S, Carson N, Simpson N, Kidd K. A linkage group of five DNA markers on human chromosome 10. Genomics 1988, 3: 72-77. PMID: 2906045, DOI: 10.1016/0888-7543(88)90162-0.Peer-Reviewed Original ResearchConceptsLinkage groupsDNA markersChromosome 10Recombination frequencySex-specific recombination frequenciesAccurate genetic mapHuman chromosome 10Three-locus analysisLong armChromosome 10 markersGenetic mapLinkage mapPericentric regionsMarker lociMap intervalPrevious localizationLinkage analysisProximal regionLociLarge pedigreeType 2APedigreeMultiple endocrine neoplasia type 2AD10S5MarkersPredicting genotypes at loci for autosomal recessive disorders using linked genetic markers: application to Wilson's disease
Farrer L, Bonne-Tamir B, Frydman M, Magazanik A, Kidd K, Bowcock A, Cavalli-Sforza L. Predicting genotypes at loci for autosomal recessive disorders using linked genetic markers: application to Wilson's disease. Human Genetics 1988, 79: 109-117. PMID: 3164701, DOI: 10.1007/bf00280547.Peer-Reviewed Original ResearchConceptsWilson disease locusDisease locusUnaffected individualsChromosome 13 markersWND locusMultipoint linkage analysisDisease familiesWilson disease familiesGenetic markersLinkage analysisChromosome 13Long armLociSources of variationAutosomal recessive disorderMore variationGenotypesCopper concentrationRecessive disorderNormal homozygotesWilson's diseaseFamilial componentMarkersCopper levelsSubsequent analysis
1987
Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage
Simpson N, Kidd K, Goodfellow P, McDermid H, Myers S, Kidd J, Jackson C, Duncan A, Farrer L, Brasch K, Castiglione C, Genel M, Gertner J, Greenberg C, Gusella J, Holden J, White B. Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage. Nature 1987, 328: 528-530. PMID: 2886918, DOI: 10.1038/328528a0.Peer-Reviewed Original ResearchConceptsRestriction fragment length polymorphismIRBP geneNew DNA markersDifferent restriction fragment length polymorphismsPairwise linkage analysisChromosome 10 markersDNA markersFragment length polymorphismMaximum lod scoreLinkage analysisDisease locusLociMEN2A locusLOD scoreLength polymorphismGenesMultipoint analysisSecondary sitesType 2ADominant fashionKinds of cancersMapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13.
Bowcock A, Farrer L, Cavalli-Sforza L, Hebert J, Kidd K, Frydman M, Bonne-Tamir B. Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13. American Journal Of Human Genetics 1987, 41: 27-35. PMID: 3474893, PMCID: PMC1684171.Peer-Reviewed Original ResearchConceptsOrder of markersChromosome 13 markersMultipoint linkage analysisDNA markersRecombination frequencyMaximum lod scoreLinkage analysisPolymorphic markersChromosome 13LOD scoreLociD13S10Esterase DAutosomal recessive disorderWNDCopper metabolismRecessive disorderWilson's diseaseCentimorgansMarkersMetabolismKindredsAn 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
1986
DNA polymorphisms for the nerve growth factor receptor gene exclude its role in familial dysautonomia.
Breakefield X, Ozelius L, Bothwell M, Chao M, Axelrod F, Kramer P, Kidd K, Lanahan A, Johnson D, Ross A. DNA polymorphisms for the nerve growth factor receptor gene exclude its role in familial dysautonomia. Molecular Biology & Medicine 1986, 3: 483-94. PMID: 2886891.Peer-Reviewed Original ResearchConceptsNerve growth factor receptor geneGrowth factor receptor geneFactor receptor geneReceptor geneExcellent genetic markerAshkenazic Jewish populationPolymorphic restriction sitesDNA polymorphismsFamilial dysautonomiaGenetic markersBeta subunitLinkage analysisGenesRestriction sitesChromosome 17qAutosomal recessive modeAllelesPossible roleRecessive modeAffected individualsNeuronal factorsPolymorphismNGF actionCentimorgansMore members