2024
Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene
Atzmony L, Zagairy F, Mawassi B, Shehade M, Tatour Y, Danial-Farran N, Khayat M, Warrour N, Dodiuk-Gad R, Cohen-Barak E. Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene. JAMA Dermatology 2024, 160: 518-524. PMID: 38536168, PMCID: PMC10974685, DOI: 10.1001/jamadermatol.2024.0152.Peer-Reviewed Original ResearchConceptsSomatic variantsATP2A2 geneDeep sequencingResponse to environmental factorsCopy number variantsRestriction fragment length polymorphismLoss of heterozygosityWhole-exome sequencingChromosomal microarray analysisDarier's diseaseFragment length polymorphismPaired whole exome sequencingPathogenic germline variantsHeterozygous pathogenic germline variantsDD lesionsGenomic characteristicsGenetic analysisGenetic skin disordersGermline variantsSanger sequencingLength polymorphismSkin lesionsTransient lesionsHeterozygous variantsMicroarray analysis
2019
Molecular epidemiology of Campylobacter isolates from broiler slaughterhouses in Tripoli, North of Lebanon
Rafei R, Al Kassaa I, Osman M, Dabboussi F, Hamze M. Molecular epidemiology of Campylobacter isolates from broiler slaughterhouses in Tripoli, North of Lebanon. British Poultry Science 2019, 60: 675-682. PMID: 31321996, DOI: 10.1080/00071668.2019.1645945.Peer-Reviewed Original ResearchMeSH KeywordsAbattoirsAnimalsAnti-Bacterial AgentsCampylobacterCampylobacter InfectionsCecumChickensDrug Resistance, BacterialElectrophoresis, Gel, Pulsed-FieldFlagellinFoodborne DiseasesGenetic VariationHumansLebanonPolymerase Chain ReactionPolymorphism, Restriction Fragment LengthPoultry DiseasesPrevalenceSpectrometry, Mass, Matrix-Assisted Laser Desorption-IonizationConceptsAntibiotic resistance profilesErtapenem resistanceMolecular epidemiologyReal burdenResistance profilesAntibiotic resistanceRestriction fragment length polymorphismNorth of LebanonFragment length polymorphismEpidemiologyField gel electrophoresisCampylobacterLength polymorphismBroiler slaughterhousesBroilersIsolatesSlaughterhouseGentamicinAmoxicillinErythromycin
2015
LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients
Álvarez L, García M, González-Iglesias H, Escribano J, Rodríguez-Calvo PP, Fernández-Vega L, Coca-Prados M. LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients. BMC Medical Genomics 2015, 16: 72. PMID: 26319397, PMCID: PMC4593192, DOI: 10.1186/s12881-015-0221-y.Peer-Reviewed Original ResearchCFH polymorphisms in a Northern Spanish population with neovascular and dry forms of age‐related macular degeneration
García M, Álvarez L, Nogacka AM, González-Iglesias H, Escribano J, Fernández-Vega B, Fernández-Vega Á, Fernández-Vega L, Coca-Prados M. CFH polymorphisms in a Northern Spanish population with neovascular and dry forms of age‐related macular degeneration. Acta Ophthalmologica 2015, 93: e658-e666. PMID: 26152901, DOI: 10.1111/aos.12790.Peer-Reviewed Original ResearchConceptsAge-related macular degenerationMacular degenerationSingle nucleotide polymorphismsRisk of AMDNorthern Spanish populationStrongest genetic risk factorHaploView 4.0 softwareNorthern Spanish patientsDifferent clinical formsCase-control studyComplement factor H (CFH) geneSpanish populationGenetic risk factorsRestriction fragment length polymorphismFactor H genePeripheral bloodClinical formsHealthy controlsRisk factorsSpanish patientsAllelic frequency analysisCFH polymorphismsCFH geneHaplotype CGGSignificant association
2014
Mutacin del gen BRAF en pacientes con cnceres de colon y recto con KRAS no mutado
Roa I, Game A, Bizama C, Schalper K. Mutacin del gen BRAF en pacientes con cnceres de colon y recto con KRAS no mutado. Revista Medica De Chile 2014, 142: 55-60. PMID: 24861115, DOI: 10.4067/s0034-98872014000100009.Peer-Reviewed Original ResearchConceptsBRAF V600E mutationV600E mutationColorectal cancerPrimary tumorKRAS mutationsIndependent prognostic factorBRAF gene mutationRestriction fragment length polymorphismColorectal cancer samplesGrowth factor pathwaysLiver metastasesPrognostic factorsMetastatic adenocarcinomaTumor locationBRAF geneFactor pathwayMonoclonal antibodiesCancer samplesMutation casesGene mutationsTissue samplesPatientsDirect sequencingMetastasisColon
2008
Distribution of Hepatitis C virus (HCV) genotypes in seropositive patients in the state of Alagoas, Brazil
Gonzaga R, Rodart I, Reis M, Neto C, Silva D. Distribution of Hepatitis C virus (HCV) genotypes in seropositive patients in the state of Alagoas, Brazil. Brazilian Journal Of Microbiology 2008, 39: 644-647. PMID: 24031281, PMCID: PMC3768450, DOI: 10.1590/s1517-83822008000400008.Peer-Reviewed Original ResearchAnti-HCV seropositive patientsHepatitis C virus genotypesC virus genotypesSeropositive patientsGenotype 1Genotype 2Nested-reverse transcription-polymerase chain reactionVirus genotypesDetectable HCV RNATranscription-polymerase chain reactionRestriction fragment length polymorphismGenotype-specific primersHCV RNAGenotype 3Subtype 1bSubtype 1aPatientsSerum samplesChain reactionSignificant differencesFragment length polymorphismState of AlagoasLength polymorphismCoinfectionPrevalence
1999
α1A-Adrenergic receptor polymorphism
Xie H, Kim R, Stein C, Gainer J, Brown N, Wood A. α1A-Adrenergic receptor polymorphism. Pharmacogenetics And Genomics 1999, 9: 651-656. PMID: 10591546, DOI: 10.1097/00008571-199910000-00012.Peer-Reviewed Original ResearchConceptsAlpha1A-ARAfrican AmericansPrevalence of hypertensionPathogenesis of hypertensionAlpha1-adrenergic receptorsAlpha1-AR subtypesVascular smooth muscleCaucasian individualsEthnic differencesVasoconstrictor sensitivityVascular reactivityAlpha1-ARBlood pressureEssential hypertensionHypertensive individualsVascular responsesVascular toneReceptor polymorphismsSmooth muscleHypertensionSignificant intergenotypic differencesPotential roleRestriction fragment length polymorphismAllelic distributionFragment length polymorphismα1A-Adrenergic receptor polymorphism
Xie H, Kim R, Stein C, Gainer J, Brown N, Wood A. α1A-Adrenergic receptor polymorphism. Pharmacogenetics And Genomics 1999, 9: 651-656. DOI: 10.1097/01213011-199910000-00012.Peer-Reviewed Original ResearchΑ1A-ARAfrican AmericansPrevalence of hypertensionPathogenesis of hypertensionVascular smooth muscleΑ1-adrenergic receptorsΑ1-adrenergic responsesCaucasian individualsEthnic differencesΑ1-AR subtypesVasoconstrictor sensitivityVascular reactivityBlood pressureEssential hypertensionHypertensive individualsVascular responsesVascular toneΑ1-ARReceptor polymorphismsSmooth muscleHypertensionSignificant intergenotypic differencesPotential roleRestriction fragment length polymorphismAllelic distributionIntron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations
Wang-Gohrke S, Weikel W, Risch H, Vesprini D, Abrahamson J, Lerman C, Godwin A, Moslehi R, Olipade O, Brunet J, Stickeler E, Kieback D, Kreienberg R, Weber B, Narod S, Runnebaum I. Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations. British Journal Of Cancer 1999, 81: 179-183. PMID: 10487631, PMCID: PMC2374363, DOI: 10.1038/sj.bjc.6690669.Peer-Reviewed Original ResearchConceptsOvarian cancer patientsBRCA2 germline mutationsCancer patientsOvarian cancerP53 geneGermline mutationsCarriers of BRCA1Breast-ovarian cancer familiesRisk-modifying effectBRCA2 mutation carriersBp duplication polymorphismUnaffected female carriersRestriction fragment length polymorphismDeleterious BRCA1Healthy controlsBRCA2 mutationsMutation carriersCancer familiesPatientsFemale carriersGermline DNACancerIntronic polymorphismDuplication polymorphismMspI restriction fragment length polymorphism
1996
Distribution and frequency of a polymorphicAlu insertion at the plasminogen activator locus in humans
Tishkoff S, Ruano G, Kidd J, Kidd K. Distribution and frequency of a polymorphicAlu insertion at the plasminogen activator locus in humans. Human Genetics 1996, 97: 759-764. PMID: 8641693, DOI: 10.1007/bf02346186.Peer-Reviewed Original ResearchConceptsPlasminogen activator geneHuman populationTissue plasminogen activator geneRestriction fragment length polymorphismActivator geneActivator locusInsertion eventsFragment length polymorphismPLAT locusHuman evolutionPolymerase chain reaction analysisChain reaction analysisLength polymorphismPresence/absenceAllele frequenciesAllelesLociModern humansDRD2 Haplotypes Containing the TaqI A1 Allele: Implications for Alcoholism Research
Kidd K, Pakstis A, Castiglione C, Kidd J, Speed W, Goldman D, Knowler W, Lu R, Bonne‐Tamir B. DRD2 Haplotypes Containing the TaqI A1 Allele: Implications for Alcoholism Research. Alcohol Clinical And Experimental Research 1996, 20: 697-705. PMID: 8800387, DOI: 10.1111/j.1530-0277.1996.tb01674.x.Peer-Reviewed Original ResearchMeSH KeywordsAlcoholismAllelesAnimalsChromosome MappingDeoxyribonucleases, Type II Site-SpecificEthnicityGene FrequencyGenetics, PopulationHaplotypesHumansPolymerase Chain ReactionPolymorphism, GeneticPolymorphism, Restriction Fragment LengthReceptors, Dopamine D2Repetitive Sequences, Nucleic AcidResearchConceptsGenetic variationAssociation studiesUnrelated control samplesDopamine D2 receptor locusDiversity of haplotypesShort tandem repeat polymorphismsDRD2 locusEvolutionary historyRestriction fragment length polymorphismPopulation geneticsPhylogenetic originFragment length polymorphismAncestral originReceptor locusHomologous regionsIntron 2LociAllelic systemHigher primatesHaplotypesTandem repeat polymorphismAllelesConsiderable diversityDRD2 haplotypesPolymorphismNovel Borrelia burgdorferi isolates from Ixodes scapularis and Ixodes dentatus ticks feeding on humans
Anderson JF, Flavell RA, Magnarelli LA, Barthold SW, Kantor FS, Wallich R, Persing DH, Mathiesen D, Fikrig E. Novel Borrelia burgdorferi isolates from Ixodes scapularis and Ixodes dentatus ticks feeding on humans. Journal Of Clinical Microbiology 1996, 34: 524-529. PMID: 8904407, PMCID: PMC228839, DOI: 10.1128/jcm.34.3.524-529.1996.Peer-Reviewed Original ResearchConceptsLate Lyme diseaseBorrelia burgdorferiScapularis ticksPulsed-field gel electrophoresis patternsWhite-footed miceIxodes scapularis ticksB. burgdorferi sensu strictoI. scapularis ticksBurgdorferi sensu strictoLyme diseaseMonoclonal antibodiesGel electrophoresis patternsI. scapularisRestriction fragment length polymorphismFragment length polymorphismMicePrevious isolatesZS7Strain B31The chicken beta 2-microglobulin gene is located on a non-major histocompatibility complex microchromosome: a small, G+C-rich gene with X and Y boxes in the promoter.
Riegert P, Andersen R, Bumstead N, Döhring C, Dominguez-Steglich M, Engberg J, Salomonsen J, Schmid M, Schwager J, Skjødt K, Kaufman J. The chicken beta 2-microglobulin gene is located on a non-major histocompatibility complex microchromosome: a small, G+C-rich gene with X and Y boxes in the promoter. Proceedings Of The National Academy Of Sciences Of The United States Of America 1996, 93: 1243-1248. PMID: 8577748, PMCID: PMC40064, DOI: 10.1073/pnas.93.3.1243.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBase CompositionBase Sequencebeta 2-MicroglobulinBlotting, SouthernChickensChromosome MappingCloning, MolecularConsensus SequenceCrosses, GeneticDNADNA, ComplementaryEnhancer Elements, GeneticErythrocytesFemaleGenes, MHC Class IHumansIn Situ HybridizationMajor Histocompatibility ComplexMaleMolecular Sequence DataPolymorphism, GeneticPolymorphism, Restriction Fragment LengthPromoter Regions, GeneticRestriction MappingSequence Homology, Nucleic AcidT-LymphocytesConceptsY-boxHigh G+C contentBeta 2-microglobulin geneDeletion of DNARestriction fragment length polymorphismInterferon regulatory elementSubunit of major histocompatibility complexFragment length polymorphismG+C contentGenome organizationGenomic clonesG+C-richAntigenic peptides to T lymphocytesPeptides to T lymphocytesRegulatory elementsCoding regionMicrochromosomesPromoter regionBackcross familiesChicken MHCLength polymorphismMHC genesGenesCongenic linesI alphaNucleotide polymorphism, effective population size, and dispersal distances in the yellow baboons (Papio hamadryas cynocephalus) of Mikumi National Park, Tanzania
Rogers J, Kidd K. Nucleotide polymorphism, effective population size, and dispersal distances in the yellow baboons (Papio hamadryas cynocephalus) of Mikumi National Park, Tanzania. American Journal Of Primatology 1996, 38: 157-168. PMID: 31918472, DOI: 10.1002/(sici)1098-2345(1996)38:2<157::aid-ajp4>3.0.co;2-y.Peer-Reviewed Original ResearchGenetic variabilityDNA polymorphismsInbreeding effective population sizeEffective population sizeDNA sequence dataMale dispersal distancesNuclear DNA polymorphismsNucleotide heterozygosityNatural populationsRestriction fragment length polymorphismMikumi National ParkDispersal distanceWright's isolationPopulation structureSequence dataAutosomal lociGenetic methodsFragment length polymorphismPopulation dynamicsPopulation sizeNational ParkSouthern blottingLength polymorphismHuman populationYellow baboons
1995
Linkage mapping of serotonin transporter protein gene SLC6A4 on chromosome 17
Gelernter J, Pakstis AJ, Kidd KK. Linkage mapping of serotonin transporter protein gene SLC6A4 on chromosome 17. Human Genetics 1995, 95: 677-680. PMID: 7789954, DOI: 10.1007/bf00209486.Peer-Reviewed Original ResearchConceptsRestriction fragment length polymorphismTransporter proteinsTransporter protein geneSerotonin transporter protein geneNorepinephrine transporter proteinLinkage mapLinkage mappingProtein geneChromosome 16q21Genetic lociCandidate genesUntranslated regionFragment length polymorphismChromosome 17GenesLinkage resultsSitu hybridizationGene SLC6A4Length polymorphismLinkage studiesPCR productsProximal 17qProteinLogical candidate geneSLC6A4
1993
Nuclear DNA polymorphisms in a wild population of yellow baboons (Papio hamadryas cynocephalus) from Mikumi National Park, Tanzania
Rogers J, Kidd K. Nuclear DNA polymorphisms in a wild population of yellow baboons (Papio hamadryas cynocephalus) from Mikumi National Park, Tanzania. American Journal Of Biological Anthropology 1993, 90: 477-486. PMID: 8097371, DOI: 10.1002/ajpa.1330900407.Peer-Reviewed Original ResearchConceptsHuman DNA clonesMikumi National ParkRestriction fragment length polymorphismDNA clonesDNA polymorphismsSingle-copy nuclear genesInformative DNA polymorphismsNuclear DNA polymorphismsAverage heterozygosity valuesNational Park
1992
Murine chromosomal location of four hepatocyte-enriched transcription factors: HNf-3α, HNF-3β, HNF-3γ, and HNF-4
Avraham K, Prezioso V, Chen W, Lai E, Sladek F, Zhong W, Darnell J, Jenkins N, Copeland N. Murine chromosomal location of four hepatocyte-enriched transcription factors: HNf-3α, HNF-3β, HNF-3γ, and HNF-4. Genomics 1992, 13: 264-268. PMID: 1612587, DOI: 10.1016/0888-7543(92)90241-j.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsChromosome MappingCrosses, GeneticDigestive SystemDNA-Binding ProteinsGene Expression RegulationGenetic MarkersHepatocyte Nuclear Factor 3-alphaHepatocyte Nuclear Factor 3-betaHepatocyte Nuclear Factor 3-gammaHepatocyte Nuclear Factor 4HumansMiceMice, Inbred C57BLMuridaeNuclear ProteinsPhosphoproteinsSpecies SpecificityTranscription FactorsConceptsHNF-3 familyHepatocyte-enriched transcription factorsHNF-3Transcription factorsHNF-4Positive-acting transcription factorsHepatocyte nuclear factor 3Analysis of restriction fragment length polymorphismsInterspecific backcross miceDNA-binding domainHNF-3 alphaRestriction fragment length polymorphismFragment length polymorphismDrosophila genesChromosomal locationMouse chromosomeRegulatory regionsHNF-3BBinding domainBackcross miceLength polymorphismEndoderm developmentGut cellsGenesBinding sitesComplete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status
Quigley C, Friedman K, Johnson A, Lafreniere R, Silverman L, Lubahn D, Brown T, Wilson E, Willard H, French F. Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status. The Journal Of Clinical Endocrinology & Metabolism 1992, 74: 927-933. DOI: 10.1210/jc.74.4.927.Peer-Reviewed Original ResearchAR geneNull phenotypeCDNA probeSouthern blot analysis of genomic DNADensitometric analysis of Southern blotsAnalysis of Southern blotsDetermination of carrier statusAnalysis of genomic DNAX-linked DNA polymorphismsAndrogen insensitivityControl cDNA probesHindIII restriction fragment length polymorphismGene dosage studiesCarrier statusRestriction fragment length polymorphismSouthern blot analysisFragment length polymorphismComplete androgen insensitivityPolymerase chain reaction amplificationAndrogen insensitivity syndromePattern of inheritanceAndrogen receptorUnrelated genesDNA polymorphismsOriginal mutationVariability in nuclear DNA among nonhuman primates: Application of molecular genetic techniques to intra‐ and inter‐species genetic analyses
Rogers J, Ruano G, Kidd K. Variability in nuclear DNA among nonhuman primates: Application of molecular genetic techniques to intra‐ and inter‐species genetic analyses. American Journal Of Primatology 1992, 27: 93-105. PMID: 31948144, DOI: 10.1002/ajp.1350270205.Peer-Reviewed Original ResearchDNA clonesSequence informationMolecular geneticsCross-species PCRIntra-species polymorphismBeta-globin gene clusterNuclear DNA clonesHuman genetic analysisHuman molecular geneticsNucleotide sequence informationNuclear lociGradient gel electrophoresisDNA variationRestriction fragment length polymorphismGene clusterMolecular variabilityGenetic analysisFragment length polymorphismLociLength polymorphismPolymerase chain reaction amplificationGel electrophoresisSpecies differencesGeneticsChain reaction amplification
1991
Studies of three Amerindian populations using nuclear DNA polymorphisms.
Kidd J, Black F, Weiss K, Balazs I, Kidd K. Studies of three Amerindian populations using nuclear DNA polymorphisms. Human Biology 1991, 63: 775-94. PMID: 1683642.Peer-Reviewed Original Research
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