2018
Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature
Xu Q, Li CY, Wang Y, Li HP, Wu BB, Jiang YH, Xu X. Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature. BMC Medical Genomics 2018, 11: 92. PMID: 30352594, PMCID: PMC6199733, DOI: 10.1186/s12920-018-0421-3.Peer-Reviewed Original ResearchConceptsChinese Han patientsHan patientsNovo pathogenic variantsClinical whole exome sequencingDysmorphic facial featuresNovo nonsense variantWhole-exome sequencingRare microdeletion syndromeClinical featuresCase reportSpinal anomaliesPathogenic variantsRelated disordersGrowth retardationPUF60 geneConclusionsOur findingsSyndromeExome sequencingNonsense variantMicrodeletion syndromeIntellectual disabilityPatientsFunction mutationsPUF60Chromosome 8q24.3
2016
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge
Xu Q, Goldstein J, Wang P, Gadi IK, Labreche H, Rehder C, Wang WP, McConkie A, Xu X, Jiang YH. Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge. Pediatric Research 2016, 80: 371-381. PMID: 27119313, PMCID: PMC5382808, DOI: 10.1038/pr.2016.101.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAlgorithmsAutistic DisorderChildChild, PreschoolChromatinComparative Genomic HybridizationCounselingDevelopmental DisabilitiesDNA Copy Number VariationsFemaleGene DeletionGene RearrangementHistone-Lysine N-MethyltransferaseHumansInfantIntellectual DisabilityMaleMicroarray AnalysisNeurodevelopmental DisordersPedigreeProtein MethyltransferasesConceptsNeurodevelopmental disordersAutism spectrum disorderIntellectual disabilityDevelopmental disabilitiesCopy number variationsChromosomal microarray analysisEtiological evaluationClinical evaluationClinical significanceUnknown significanceCNV analysisGenetics clinicEtiology of ASDCounseling familiesDisordersVariable penetranceClinicMicroarray analysisNovel deletionSpectrum disorderDisabilityCounseling challengesFurther supportEtiologyCohort
2013
Region‐specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndrome
Hayrapetyan V, Castro S, Sukharnikova T, Yu C, Cao X, Jiang YH, Yin HH. Region‐specific impairments in striatal synaptic transmission and impaired instrumental learning in a mouse model of Angelman syndrome. European Journal Of Neuroscience 2013, 39: 1018-1025. PMID: 24329862, PMCID: PMC5937017, DOI: 10.1111/ejn.12442.Peer-Reviewed Original ResearchConceptsDorsolateral striatumDorsomedial striatumMouse modelAngelman syndromeWhole-cell patch-clamp recordingsMiniature excitatory postsynaptic currentsRegion-specific impairmentsStriatal synaptic transmissionExcitatory postsynaptic currentsBasal ganglia pathologyPatch-clamp recordingsDeficient mouse modelUbe3a deficiencyWild-type controlsGlutamatergic transmissionPostsynaptic currentsBasal gangliaSynaptic transmissionInput nucleusMaternal deficiencyMotor tremorCorticostriatal circuitsMutant miceStriatumMice
1997
The E6–AP Ubiquitin–Protein Ligase (UBE3A) Gene Is Localized within a Narrowed Angelman Syndrome Critical Region
Sutcliffe J, Jiang Y, Galjaard R, Matsuura T, Fang P, Kubota T, Christian S, Bressler J, Cattanach B, Ledbetter D, Beaudet A. The E6–AP Ubiquitin–Protein Ligase (UBE3A) Gene Is Localized within a Narrowed Angelman Syndrome Critical Region. Genome Research 1997, 7: 368-377. PMID: 9110176, PMCID: PMC139148, DOI: 10.1101/gr.7.4.368.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAngelman SyndromeAnimalsBlotting, NorthernBlotting, SouthernChromosome AberrationsChromosome MappingChromosomes, Artificial, YeastChromosomes, Human, Pair 15Cloning, MolecularCosmidsElectrophoresis, Gel, Pulsed-FieldFemaleGene DeletionGene DosageGene Expression Regulation, DevelopmentalGenetic MarkersGenomic ImprintingHumansIn Situ HybridizationLigasesMaleMiceMice, Mutant StrainsMolecular Sequence DataPaternityPrader-Willi SyndromeSequence Homology, Amino AcidSequence Homology, Nucleic AcidTissue DistributionTranscription, GeneticTranslocation, GeneticUbiquitin-Protein LigasesConceptsLigase geneUbiquitin protein ligase geneAngelman syndromeEntire transcriptional unitCandidate regionsMaternal-specific expressionE6-AP ubiquitinTranscriptional unitsPaternal deficiencyRT-PCR analysisMouse homologPrader-Willi syndromePaternal uniparental disomyPhysical mapDe novo truncating mutationsNovo truncating mutationsRecent identificationUBE3A locusMouse tissuesGenesUbe3a expressionLociUniparental disomyProtein levelsAS region