2020
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
Schoch K, Tan Q, Stong N, Deak KL, McConkie-Rosell A, McDonald MT, Goldstein D, Jiang Y, Shashi V. Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses. Genetics In Medicine 2020, 22: 1269-1275. PMID: 32366967, PMCID: PMC7335342, DOI: 10.1038/s41436-020-0781-x.Peer-Reviewed Original Research
2019
ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity
Yang R, Walder-Christensen KK, Kim N, Wu D, Lorenzo DN, Badea A, Jiang YH, Yin HH, Wetsel WC, Bennett V. ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 15262-15271. PMID: 31285321, PMCID: PMC6660793, DOI: 10.1073/pnas.1904348116.Peer-Reviewed Original ResearchMeSH KeywordsAlternative SplicingAnimalsAnkyrinsAutism Spectrum DisorderBehavior, AnimalCell MembraneConnectomeDisease Models, AnimalExecutive FunctionGene ExpressionGene Knock-In TechniquesHumansMaleMiceMice, TransgenicMicrotubulesMutationNeural Cell Adhesion Molecule L1Neuronal OutgrowthNeuronsPrimary Cell CultureSocial BehaviorSynapses
2013
Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders
Zhu L, Wang X, Li XL, Towers A, Cao X, Wang P, Bowman R, Yang H, Goldstein J, Li YJ, Jiang YH. Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders. Human Molecular Genetics 2013, 23: 1563-1578. PMID: 24186872, PMCID: PMC3929093, DOI: 10.1093/hmg/ddt547.Peer-Reviewed Original ResearchConceptsAlternative splicingMolecular basisDNA methylation inhibitorDNA methylation profilingOverall DNA methylationRole of genesIsoform-specific expressionIntragenic promotersEpigenetic modificationsMRNA splice variantsDNA methylationCpG islandsMethylation inhibitorMethylation patternsEpigenetic dysregulationMethylation profilingEpigenetic causesCGIs 4Expression of SHANK3CGI-2Etiology of ASDSplice variantsMethylationCultured cellsAltered expression
2008
Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region
Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork CD, Shaffer LG, Beaudet AL. Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region. BMC Genomics 2008, 9: 50. PMID: 18226259, PMCID: PMC2268926, DOI: 10.1186/1471-2164-9-50.Peer-Reviewed Original ResearchMeSH KeywordsAlternative SplicingAngelman SyndromeAnimalsAutoantigensChromosome BreakageChromosome DeletionChromosomes, Human, Pair 15Conserved SequenceContig MappingCpG IslandsDNA MethylationElectrophoresis, Gel, Pulsed-FieldExonsGenomic ImprintingGenomicsHumansIntronsMiceOpen Reading FramesPrader-Willi SyndromeRNA, MessengerTranscription, GeneticWiskott-Aldrich Syndrome Protein FamilyConceptsLow-copy repeatsHuman genomeAllele-specific expression patternsProtein-coding genesHuman genome sequenceComplex chromosomal regionsCoiled-coil proteinsUCSC Genome BrowserCharacterization of transcriptsPolymorphic regionSequence-based physical mapProximal breakpoint regionCultured human cellsExtensive sequence analysisCopy number variationsGenomic orientationGene organizationNovel genesCentromeric deletion breakpointGenome sequenceSubfamily proteinsGenome browserGenomic analysisPhysical mapExact protein