2022
Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism
Tzanoulinou S, Musardo S, Contestabile A, Bariselli S, Casarotto G, Magrinelli E, Jiang YH, Jabaudon D, Bellone C. Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism. Molecular Psychiatry 2022, 27: 2080-2094. PMID: 35022531, PMCID: PMC9126815, DOI: 10.1038/s41380-021-01427-0.Peer-Reviewed Original ResearchConceptsAcute inflammatory responseInflammatory responseSHANK3 geneTransient receptor potential vanilloid 4Shank3 mouse modelAutism spectrum disorderGenetic risk factorsInhibition of TRPV4Ex vivo approachNeuron hyperexcitabilityRisk factorsBehavioral deficitsNucleus accumbensMouse modelTRPV4 inhibitionBehavioral alterationsSocial deficitsSHANK3 mutationsCircuit mechanismsNeurodevelopmental diseasesGenetic alterationsTypes of mutationsHeterozygous deletionIdiopathic autismEnvironmental insults
2018
A Novel Murine Knock‐in Model for Progranulin‐deficient Frontotemporal Dementia with Nonsense‐mediated mRNA Decay
Nguyen A, Nguyen T, Zhang J, Devireddy S, Zhou P, Karydas A, Xu X, Miller B, Rigo F, Ferguson S, Huang E, Walther T, Farese R. A Novel Murine Knock‐in Model for Progranulin‐deficient Frontotemporal Dementia with Nonsense‐mediated mRNA Decay. The FASEB Journal 2018, 32: 807.8-807.8. DOI: 10.1096/fasebj.2018.32.1_supplement.807.8.Peer-Reviewed Original ResearchFrontotemporal dementiaMRNA levelsProgranulin-deficient frontotemporal dementiaCommon neurodegenerative disorderExcessive grooming behaviorGrn knockout miceCell linesFull-text articlesSynaptic densityProgranulin deficiencyTesting therapiesGRN mutationsTherapeutic approachesKnockout miceAnimal modelsAge 60GRN mRNA levelsNeurodegenerative disordersNonsense mutationMiceProgranulin proteinText articlesNational InstituteTypes of mutationsDementia research
2015
MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Bronicki L, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière J, Isidor B, Gan G, Francannet C, Gunel M, Jones J, Gleeson J, Willems M, Mandel J, Stevenson R, Friez M, Aylsworth A. MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Journal Of Medical Genetics 2015, 52: a2. DOI: 10.1136/jmedgenet-2015-103577.6.Peer-Reviewed Original ResearchDual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) geneDNA sequence variationExome next-generation sequencingLarge chromosomal deletionsDown syndrome critical regionIntellectual disability phenotypeIdentification of mutationsWhole-exome next-generation sequencingIntellectual disabilitySyndrome critical regionComparative genomic hybridization analysisNext-generation sequencingSyndromic intellectual disabilityChromosomal rearrangementsMultiple genesSequence variationGenomic hybridization analysisRecurrent clinical featuresTypes of mutationsDYRK1AHybridization analysisArray comparative genomic hybridization analysisChromosomal deletionsPoor weight gainDisability phenotype
2014
Squamous Cell Carcinoma of the Oral Tongue in Young Non-Smokers Is Genomically Similar to Tumors in Older Smokers
Pickering CR, Zhang J, Neskey DM, Zhao M, Jasser SA, Wang J, Ward A, Tsai CJ, Alves M, Zhou JH, Drummond J, El-Naggar AK, Gibbs R, Weinstein JN, Wheeler DA, Wang J, Frederick MJ, Myers JN. Squamous Cell Carcinoma of the Oral Tongue in Young Non-Smokers Is Genomically Similar to Tumors in Older Smokers. Clinical Cancer Research 2014, 20: 3842-3848. PMID: 24874835, PMCID: PMC4102633, DOI: 10.1158/1078-0432.ccr-14-0565.Peer-Reviewed Original ResearchConceptsSquamous cell carcinomaOlder patientsOral tongueYounger patientsCell carcinomaWhole-exome sequencingOlder smokersSimilar patientsTongue tumorsNon smokersIncreasing incidenceEpidemiologic studiesIndependent cohortPatientsSCCOTSmokingTumorsCohortAlteration frequencyGenomic effectsTCGA dataCopy number analysisGene-specific mutationsOlder cohortTypes of mutations
2002
Coexpression of Wild-Type Tyrosinase Enhances Maturation of Temperature-Sensitive Tyrosinase Mutants
Halaban R, Cheng E, Hebert DN. Coexpression of Wild-Type Tyrosinase Enhances Maturation of Temperature-Sensitive Tyrosinase Mutants. Journal Of Investigative Dermatology 2002, 119: 481-488. PMID: 12190874, DOI: 10.1046/j.1523-1747.2002.01824.x.Peer-Reviewed Original ResearchConceptsWild-type proteinTyrosinase mutantsMutant proteinsGlycosylation-deficient mutantsGlycosylation-deficient formsOculocutaneous albinism 1Wild-type tyrosinaseDevelopment of pigmentsDifferent mutant allelesType I membraneActivity-dependent mannerNonpermissive temperatureMutant allelesEndoplasmic reticulumTypes of mutationsMutantsFunction mutationsCarbohydrate processingMelanin synthesisProteinCoexpressionMelanocytesTyrosinase activityMutationsMaturation
1998
Patterns of HIV-1 evolution in individuals with differing rates of CD4 T cell decline
Markham R, Wang W, Weisstein A, Wang Z, Munoz A, Templeton A, Margolick J, Vlahov D, Quinn T, Farzadegan H, Yu X. Patterns of HIV-1 evolution in individuals with differing rates of CD4 T cell decline. Proceedings Of The National Academy Of Sciences Of The United States Of America 1998, 95: 12568-12573. PMID: 9770526, PMCID: PMC22871, DOI: 10.1073/pnas.95.21.12568.Peer-Reviewed Original ResearchConceptsCD4 T-cell declineT-cell declineCell declineHIV-1 env sequencesFirst seropositive visitModerate disease progressionCD4 T cellsInjection drug usersLow viral loadHIV-1 evolutionLater time pointsViral loadDisease progressionT cellsDrug usersPredominant virusNonsynonymous mutationsEnv sequencesTime pointsNonprogressorsTypes of mutationsDominant variantVisitsOnly quantitative differencesViral evolution
1994
Comparative analysis of DNA mutations in lacI transgenic mice with age
Lee A, Desimone C, Cerami A, Bucala R. Comparative analysis of DNA mutations in lacI transgenic mice with age. The FASEB Journal 1994, 8: 545-550. PMID: 8181674, DOI: 10.1096/fasebj.8.8.8181674.Peer-Reviewed Original Research
1988
Nonsense mutations in the human beta-globin gene affect mRNA metabolism.
Baserga S, Benz E. Nonsense mutations in the human beta-globin gene affect mRNA metabolism. Proceedings Of The National Academy Of Sciences Of The United States Of America 1988, 85: 2056-2060. PMID: 3353367, PMCID: PMC279927, DOI: 10.1073/pnas.85.7.2056.Peer-Reviewed Original ResearchConceptsHeterologous transfection systemBeta-globin mRNABeta-globin geneNonsense mutationHuman beta-globin geneTransfection systemTranslation termination codonPeripheral blood cellsHuman beta-globin mRNATranslation termination mutationsMammalian mRNAsMRNA metabolismBeta 17Steady-state levelsTermination codonMRNA accumulationNormal levelsTypes of mutationsTermination mutationsBlood cellsMissense mutationsGenesHuman alphaMutationsZero-thalassemia
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