2017
The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis
Tan Q, McConkie-Rosell A, Juusola J, Gustafson KE, Pizoli CE, Buckley AF, Jiang YH. The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis. Molecular Case Studies 2017, 3: a002063. PMID: 28729373, PMCID: PMC5701308, DOI: 10.1101/mcs.a002063.Peer-Reviewed Original ResearchConceptsAnterior horn cell diseaseCell diseasePathogenic variantsMotor neuron diseaseBiallelic missense mutationsSpinal muscular atrophyWhole-exome sequencingMotor weaknessRespiratory supportRespiratory difficultyNeuron diseaseMotor phenotypePerinatal periodPrenatal symptomsContracture syndromeMuscle biopsySevere formFetal akinesiaMuscular atrophyDiseaseMRNA exportLethal arthrogryposisTranslation initiationPerinatal lethalityArthrogryposis
2011
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3
Wang X, McCoy PA, Rodriguiz RM, Pan Y, Je HS, Roberts AC, Kim CJ, Berrios J, Colvin JS, Bousquet-Moore D, Lorenzo I, Wu G, Weinberg RJ, Ehlers MD, Philpot BD, Beaudet AL, Wetsel WC, Jiang YH. Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Human Molecular Genetics 2011, 20: 3093-3108. PMID: 21558424, PMCID: PMC3131048, DOI: 10.1093/hmg/ddr212.Peer-Reviewed Original ResearchConceptsPostsynaptic densityMajor clinical featuresHomer1b/cRole of Shank3Activity-dependent redistributionAutism spectrum disorderLong-term potentiationHuman ASD patientsSynaptic scaffolding proteinsHomozygous mutant miceClinical featuresMajor isoformsSynaptic dysfunctionAbnormal social behaviorCA1 hippocampusMale miceCognitive dysfunctionSynaptic transmissionExcitatory synapsesDendritic spinesMotor coordinationAMPA receptorsBehavioral abnormalitiesSHANK3 mutationsSevere impairment
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