2019
Genetic association analysis of 5‐HTR2A gene variants in eating disorders in a Mexican population
Genis‐Mendoza A, Ruiz‐Ramos D, López‐Narvaez M, Tovilla‐Zárate C, García A, Meda G, Martinez‐Magaña J, González‐Castro T, Juárez‐Rojop I, Nicolini H. Genetic association analysis of 5‐HTR2A gene variants in eating disorders in a Mexican population. Brain And Behavior 2019, 9: e01286. PMID: 31199591, PMCID: PMC6625474, DOI: 10.1002/brb3.1286.Peer-Reviewed Original ResearchGlutathione Transferase P1 Polymorphism Might Be a Risk Determinant in Heart Failure
Simeunovic D, Odanovic N, Pljesa-Ercegovac M, Radic T, Radovanovic S, Coric V, Milinkovic I, Matic M, Djukic T, Ristic A, Risimic D, Seferovic P, Simic T, Simic D, Savic-Radojevic A. Glutathione Transferase P1 Polymorphism Might Be a Risk Determinant in Heart Failure. Disease Markers 2019, 2019: 6984845. PMID: 31275451, PMCID: PMC6589253, DOI: 10.1155/2019/6984845.Peer-Reviewed Original ResearchConceptsIdiopathic dilated cardiomyopathyCoronary artery diseaseHeart failureHF patientsImpairment of cardiac functionEnd-systolic diameterIncreased HF riskGender-matched controlsNo significant associationSusceptible to oxidative stressDilated CardiomyopathyHF occurrenceCardiac functionApoptotic signaling pathwayEndothelial dysfunctionICAM-1Artery diseaseGST genotypesHF riskP1 polymorphismsPolymorphic variantsPatientsSignificant associationRisk determinantsRegulation of cell signaling
2014
Functional variability of glutathione S‐transferases in basque populations
Iorio A, Piacentini S, Polimanti R, De Angelis F, Calderon R, Fuciarelli M. Functional variability of glutathione S‐transferases in basque populations. American Journal Of Human Biology 2014, 26: 361-366. PMID: 24677736, DOI: 10.1002/ajhb.22520.Peer-Reviewed Original ResearchConceptsHuman Genome Diversity ProjectGlutathione S-transferaseS-transferaseFunctional variabilityGenetic structureGenetic association studiesCellular detoxificationGenetic variabilityGenome ProjectGST genesAssociation studiesHigh differentiationDiversity ProjectMediterranean populationsGenesCorrespondence analysisBasque populationEnzyme activityHuman populationDNA extractionPCR multiplexWorldwide populationPCR-RFLP methodPolymorphic variantsDrug response
2008
Ovarian cancer risk is associated with a common variant in the promoter sequence of the mismatch repair gene MLH1
Harley I, Rosen B, Risch HA, Siminovitch K, Beiner ME, McLaughlin J, Sun P, Narod SA. Ovarian cancer risk is associated with a common variant in the promoter sequence of the mismatch repair gene MLH1. Gynecologic Oncology 2008, 109: 384-387. PMID: 18405947, PMCID: PMC3060029, DOI: 10.1016/j.ygyno.2007.11.046.Peer-Reviewed Original ResearchConceptsHereditary non-polyposis colon cancer syndromeInvasive ovarian cancerOvarian cancerMLH1 genePolymorphic variantsOvarian cancer riskColon cancer syndromesMismatch repair genes MLH1Endometrial cancerClear cellsCancer riskCardinal featuresCancer syndromesCancerGenes MLH1Proportion of familiesSignificant riskSyndromeColonCommon variantsRiskEthnic groupsPredisposesHistologyVariants
1997
Amino‐acid substitution in α‐spectrin commonly coinherited with nondominant hereditary spherocytosis
Tse W, Gallagher P, Jenkins P, Wang Y, Benoit L, Speicher D, Winkelmann J, Agre P, Forget B, Marchesi S. Amino‐acid substitution in α‐spectrin commonly coinherited with nondominant hereditary spherocytosis. American Journal Of Hematology 1997, 54: 233-241. PMID: 9067503, DOI: 10.1002/(sici)1096-8652(199703)54:3<233::aid-ajh10>3.0.co;2-e.Peer-Reviewed Original ResearchConceptsHereditary spherocytosisAlpha-spectrin geneNumber of patientsSevere hemolytic anemiaAmino acid substitutionsHemolytic anemiaPatientsPatterns of transmissionDifferent kindredsPolymorphic variantsAffected individualsErythrocyte spectrinGene defectsGenomic DNA analysisTrue homozygotesDisordersSpherocytosisSpectrin chainsGenomic DNAAlpha-spectrinKindredsLinkage disequilibriumΑ-spectrinAmino acidsDomain peptide
1993
A hypervariable segment in the human dopamine receptor D4 (DRD4) gene
Lichter J, Barr C, Kennedy J, Van Tol H, Kidd K, Livak K. A hypervariable segment in the human dopamine receptor D4 (DRD4) gene. Human Molecular Genetics 1993, 2: 767-773. PMID: 8353495, DOI: 10.1093/hmg/2.6.767.Peer-Reviewed Original ResearchConceptsHuman dopamine receptor D4 geneAmino acid sequenceThird cytoplasmic loopNumber of repeatsPutative third cytoplasmic loopFunctional proteinsCytoplasmic loopAcid sequenceRepeat regionDifferent repeatsHypervariable segmentDifferent haplotypesRepeatsDopamine receptor D4 geneUnrelated chromosomesNovel polymorphismsD4 geneGenesProteinHuman dopamine D4 receptorPolymorphic variantsSequencePolymorphismChromosomesReceptors
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