2019
Non-typeable Haemophilus influenzae isolates from patients with chronic obstructive pulmonary disease contain new phase-variable modA methyltransferase alleles controlling phasevarions
Atack JM, Murphy TF, Pettigrew MM, Seib KL, Jennings MP. Non-typeable Haemophilus influenzae isolates from patients with chronic obstructive pulmonary disease contain new phase-variable modA methyltransferase alleles controlling phasevarions. Scientific Reports 2019, 9: 15963. PMID: 31685916, PMCID: PMC6828955, DOI: 10.1038/s41598-019-52429-6.Peer-Reviewed Original ResearchConceptsNon-typeable Haemophilus influenzaeChronic obstructive pulmonary diseaseObstructive pulmonary diseaseMiddle ear infectionPulmonary diseaseEar infectionsNTHi strainsHaemophilus influenzaeExacerbation of COPDCOPDMiddle earPatientsAllele distributionInfectionInfluenzaeBacterial pathogensDiseaseMultiple allelic variantsAllelic variantsGene expressionAllelesEpigenetic mechanismsLarge panelExacerbationExpression
2015
Investigation of the 53 Markers in a DNA-Based Prognostic Test Revealing New Predisposition Genes for Adolescent Idiopathic Scoliosis
Xu L, Huang S, Qin X, Mao S, Qiao J, Qian BP, Qiu Y, Zhu Z. Investigation of the 53 Markers in a DNA-Based Prognostic Test Revealing New Predisposition Genes for Adolescent Idiopathic Scoliosis. Spine 2015, 40: 1086-1091. PMID: 25811265, DOI: 10.1097/brs.0000000000000900.Peer-Reviewed Original ResearchConceptsNew predisposition genesSingle nucleotide polymorphismsAssociation studiesGene-based association studyPredisposition genesGenetic association studiesEtiology of AISGenesNucleotide polymorphismsSusceptibility of AISDNA samplesDifferent pathwaysInvader assayDifferences of genotypeAllele APopulation summariesAllele distributionCentral neural systemAllele GMultifactorial diseaseAllele CGenotype frequenciesAllele T
2006
GENETIC STUDY: Analysis of variations in the tryptophan hydroxylase‐2 (TPH2) gene in cocaine dependence
Dahl JP, Cubells JF, Ray R, Weller AE, Lohoff FW, Ferraro TN, Oslin DW, Kampman KM, Dackis C, Tang Y, Gelernter J, Kranzler HR, O’Brien C, Berrettini WH. GENETIC STUDY: Analysis of variations in the tryptophan hydroxylase‐2 (TPH2) gene in cocaine dependence. Addiction Biology 2006, 11: 76-83. PMID: 16759340, DOI: 10.1111/j.1369-1600.2006.00005.x.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsCocaine dependenceTryptophan hydroxylase 2 geneTPH2 geneGenetic variationCase-control study designSerotonergic neurotransmitter systemCentral nervous systemSubstance use disordersGenesExact physiological mechanismsNucleotide polymorphismsAnalysis of variationPhysiological mechanismsControl subjectsBody of evidenceRisk factorsNeurotransmitter systemsUse disordersNervous systemStudy designAllele distributionPresent studyAfrican descentStudy associates
1999
Allele Frequencies in a Worldwide Survey of a CA Repeat in the First Intron of the CFTR Gene
Mateu E, Calafell F, Bonné-Tamir B, Kidd J, Casals T, Kidd K, Bertranpetit J. Allele Frequencies in a Worldwide Survey of a CA Repeat in the First Intron of the CFTR Gene. Human Heredity 1999, 49: 15-20. PMID: 9858852, DOI: 10.1159/000022834.Peer-Reviewed Original ResearchConceptsCFTR geneIntron 1Allele frequenciesMolecular varianceGenetic varianceFirst intronDinucleotide CACA repeatsGenesCF mutationsHaplotypic analysisMutationsMajor geographical areasAfrican populationsUnknown mutationsAllele distributionPolymorphismCystic fibrosisIntronsChromosomesRepeatsGeographical regionsLociHeterozygosityPopulation
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