0000000000635284

AUTHOR

Antonio M. Persico

showing 2 related works from this author

Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation

2006

International audience; Objective: Autism is a complex, largely genetic psychiatric disorder. In the majority of cases, the cause of autism is not known, but there is strong evidence for a genetic etiology. To identify candidate genes, the physical mapping of balanced chromosomal aberrations is a powerful strategy, since several genes have been characterized in numerous disorders. In this study, the authors analyzed a balanced reciprocal translocation arising de novo in a subject with autism and mental retardation. Method: The authors performed the physical mapping of the balanced 9q23/ 10q22 translocation by fluorescent in situ hybridization experiments using bacterial artificial chromosom…

MaleCandidate geneChromosomes Artificial BacterialIndolesDNA Mutational AnalysisRegulatorChromosomal translocationautism mental retardation KCNMA1 genelarge conductance Ca(2+)-activated K(+) (BK(Ca)) channel synaptic transmission chromosomal translocationSynaptic TransmissionTranslocation GeneticPair 10CA2+-ACTIVATED K+ CHANNELSCloning MolecularChildLarge-Conductance Calcium-Activated Potassium Channel alpha SubunitsMUTATIONIn Situ HybridizationIn Situ Hybridization FluorescenceReverse Transcriptase Polymerase Chain ReactionBacterialChromosome MappingETIOLOGYPsychiatry and Mental healthArtificialKCNMA1 Gene[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]HaploinsufficiencyPsychologyChromosomes Human Pair 9POTASSIUM CHANNELSHumanPair 9Autistic Disorder; Child; Chromosome Aberrations; Chromosome Mapping; Chromosomes; Artificial; Bacterial; Chromosomes; Human; Pair 10; Chromosomes; Human; Pair 9; Cloning; Molecular; DNA Mutational Analysis; Humans; In Situ Hybridization; Fluorescence; Indoles; Intellectual Disability; Large-Conductance Calcium-Activated Potassium Channel alpha Subunits; Male; Reverse Transcriptase Polymerase Chain Reaction; Synaptic Transmission; Translocation; GeneticTranslocationNeurotransmissionChromosomesFluorescenceGeneticIntellectual DisabilitymedicineHumansAutistic DisorderRELEASEChromosome AberrationsCOMPLEXChromosomes Human Pair 10MolecularAutistic Disorder; Child; Chromosome Aberrations; Chromosome Mapping; Chromosomes Artificial Bacterial; Chromosomes Human Pair 10; Chromosomes Human Pair 9; Cloning Molecular; DNA Mutational Analysis; Humans; In Situ Hybridization Fluorescence; Indoles; Intellectual Disability; Large-Conductance Calcium-Activated Potassium Channel alpha Subunits; Male; Reverse Transcriptase Polymerase Chain Reaction; Synaptic Transmission; Translocation GeneticPERVASIVE DEVELOPMENTAL DISORDERSmedicine.diseaseDevelopmental disorderINDIVIDUALSLARGE-CONDUCTANCEAutismSCREENNeuroscience[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyCloning
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Urinaryp-cresol is elevated in young French children with autism spectrum disorder: a replication study

2014

The aromatic compound p-cresol (4-methylphenol) has been found elevated in the urines of Italian autistic children up to 8 years of age. The present study aims at replicating these initial findings in an ethnically distinct sample and at extending them by measuring also the three components of urinary p-cresol, namely p-cresylsulfate, p-cresylglucuronate and free p-cresol. Total urinary p-cresol, p-cresylsulfate and p-cresylglucuronate were significantly elevated in 33 French autism spectrum disorder (ASD) cases compared with 33 sex- and age-matched controls (p < 0.05). This increase was limited to ASD children aged ≤8 years (p < 0.01), and not older (p = 0.17). Urinary levels of p-cresol a…

Pervasive developmental disordersMalePathologyHealth Toxicology and MutagenesisClinical BiochemistryBiochemistryClinical biochemistryCresolsorganic contaminants; neurotoxicity; Gut flora; pervasive developmental disorders; p-cresylsulfateUrinary levelsneurotoxicityChildSettore BIO/12P-cresylsulfateSettore MED/39 - Neuropsichiatria InfantileGut flora neurotoxicity organic contaminants p-cresylsulfate pervasive developmental disordersHealthAutism spectrum disorderChild Preschoolp-cresylsulfateBiomarker (medicine)FemaleFrancemedicine.medical_specialtyChild Development DisordersAdolescentUrinary systemGlucuronatesSulfuric Acid EstersOrganic contaminantsGut flora; Neurotoxicity; Organic contaminants; p-cresylsulfate; Pervasive developmental disorders; Adolescent; Case-Control Studies; Child; Child Development Disorders; Pervasive; Child; Preschool; Cresols; Female; France; Glucuronates; Humans; Male; Sulfuric Acid Esters; Biochemistry; Clinical Biochemistry; Health; Toxicology and MutagenesisInternal medicineparasitic diseasesNeurotoxicitymedicineHumansToxicology and MutagenesisPreschoolSettore BIO/10 - BIOCHIMICAPervasiveGut florabusiness.industryCase-control studypervasive developmental disordersmedicine.diseaseChild Development Disorders PervasiveCase-Control StudiesAutismorganic contaminantsGut flora; Neurotoxicity; Organic contaminants; p-cresylsulfate; Pervasive developmental disorders; Adolescent; Case-Control Studies; Child; Child Development Disorders Pervasive; Child Preschool; Cresols; Female; France; Glucuronates; Humans; Male; Sulfuric Acid Esters; Biochemistry; Clinical Biochemistry; Health Toxicology and MutagenesisbusinessBiomarkers
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