2022
TBX5 variant with the novel phenotype of mixed-type total anomalous pulmonary venous return in Holt-Oram Syndrome and variable intrafamilial heart defects
Azab B, Aburizeg D, Ji W, Jeffries L, Isbeih NJ, Al-Akily AS, Mohammad H, Abu Osba Y, Shahin MA, Dardas Z, Hatmal MM, Al-Ammouri I, Lakhani S. TBX5 variant with the novel phenotype of mixed-type total anomalous pulmonary venous return in Holt-Oram Syndrome and variable intrafamilial heart defects. Molecular Medicine Reports 2022, 25: 210. PMID: 35514310, PMCID: PMC9133962, DOI: 10.3892/mmr.2022.12726.Peer-Reviewed Original ResearchConceptsHolt-Oram syndromeMolecular etiologyT-box domainWild-type proteinT-box transcription factorGenetic investigationsTrio-based whole-exome sequencingNonsense variantTranscription factorsIntrafamilial levelTBX5 proteinNovel phenotypesProtein's abilityFirst genetic investigationMutant dimersNon-syndromic presentationsProtein modelingWhole-exome sequencingComplete phenotypingSubsequent genetic investigationsTbx5Novel associationsPowerful approachWide phenotypic spectrumNon-covalent bonds
2017
Reconstructed Serine 288 in the Left Flipper Region of the Rat P2X7 Receptor Stabilizes Nonsensitized States
Ishchenko Y, Novosolova N, Khafizov K, Bart G, Timonina A, Fayuk D, Skorinkin A, Giniatullin R. Reconstructed Serine 288 in the Left Flipper Region of the Rat P2X7 Receptor Stabilizes Nonsensitized States. Biochemistry 2017, 56: 3394-3402. PMID: 28616989, DOI: 10.1021/acs.biochem.7b00258.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SubstitutionAnimalsBinding SitesBiological Transport, ActiveComputer SimulationFluorescent DyesHEK293 CellsHumansKineticsLigandsModels, MolecularPatch-Clamp TechniquesPoint MutationProtein Interaction Domains and MotifsProtein StabilityPurinergic P2X Receptor AgonistsPurinergic P2X Receptor AntagonistsRatsReceptors, Purinergic P2X7Recombinant ProteinsSerineConceptsRat P2X7 receptorP2X7 receptorSerine 288Novel phenotypesCorresponding residuesPosition 288MM ATPHuman P2X7 receptorMolecular modeling dataF288Agonist bindingATPReceptor statesP2X receptorsReceptor desensitizationPhenotypeATP concentrationFast deactivation ratesResiduesReceptorsKey roleS applicationMutantsSerineWT values
2010
The Sterol Methyltransferases SMT1, SMT2, and SMT3 Influence Arabidopsis Development through Nonbrassinosteroid Products
Carland F, Fujioka S, Nelson T. The Sterol Methyltransferases SMT1, SMT2, and SMT3 Influence Arabidopsis Development through Nonbrassinosteroid Products. Plant Physiology 2010, 153: 741-756. PMID: 20421456, PMCID: PMC2879779, DOI: 10.1104/pp.109.152587.Peer-Reviewed Original ResearchConceptsDevelopmental roleSpecific sterolsDistinct developmental rolesArabidopsis developmentAuxin responseAuxin insensitivityAuxin resistanceStructural sterolsCotyledon veinFloral organsMutant resultsDouble mutantSingle mutantsFloral transformationApical dominanceProtein endocytosisNovel phenotypesWild typeDevelopmental defectsRoot growthMutantsReduced statureEnhanced defectsSmt3Cell membrane
2008
The evolution of courtship behaviors through the origination of a new gene in Drosophila
Dai H, Chen Y, Chen S, Mao Q, Kennedy D, Landback P, Eyre-Walker A, Du W, Long M. The evolution of courtship behaviors through the origination of a new gene in Drosophila. Proceedings Of The National Academy Of Sciences Of The United States Of America 2008, 105: 7478-7483. PMID: 18508971, PMCID: PMC2396706, DOI: 10.1073/pnas.0800693105.Peer-Reviewed Original ResearchConceptsMale-male courtshipD. melanogasterChimeric geneCourtship behaviorNew genesRelated Drosophila speciesNew chimeric genesDrosophila speciesAdaptive evolutionMutant phenotypeDrosophila melanogasterAncestral conditionUnrelated genesPhenotypic effectsMelanogasterNovel phenotypesCombination of sequenceMating behaviorChimeric structureGenesCourtshipSpeciesPhenotypeDrosophilaKnockout
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