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
2010
Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3
Jiang YH, Pan Y, Zhu L, Landa L, Yoo J, Spencer C, Lorenzo I, Brilliant M, Noebels J, Beaudet AL. Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3. PLOS ONE 2010, 5: e12278. PMID: 20808828, PMCID: PMC2924885, DOI: 10.1371/journal.pone.0012278.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesAngelman SyndromeAnimalsCerebral CortexChromosome DeletionDarknessDisease Models, AnimalExploratory BehaviorFemaleGene Expression RegulationHomozygoteMaleMembrane Transport ProteinsMemoryMiceMothersMotor ActivityReceptors, GABA-ASeizuresUbiquitin-Protein LigasesUltrasonicsVocalization, AnimalConceptsLarge maternal deletionsDeletion miceMutant miceMouse modelAngelman syndrome mouse modelAngelman syndromeSpontaneous seizure activityMaternal deletionAS mouse modelGABRB3 geneWild-type littermatesSyndrome mouse modelE6-AP ubiquitinLight-dark boxDeletion mutant miceUBE3A mutationsUniparental disomyElectroencephalography (EEG) abnormalitiesAS patientsAbnormal EEGSeizure activityMotor functionPerinatal periodBalance disordersPaternal uniparental disomy