2020
Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling
Liu C, Li D, Yang H, Li H, Xu Q, Zhou B, Hu C, Li C, Wang Y, Qiao Z, Jiang YH, Xu X. Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling. Progress In Neurobiology 2020, 200: 101985. PMID: 33388374, PMCID: PMC8572121, DOI: 10.1016/j.pneurobio.2020.101985.Peer-Reviewed Original ResearchConceptsTract-based spatial statisticsVoxel-based morphometryUnderlying neuropathological mechanismsNeuropathological mechanismsDeficient childrenBrain structuresMiddle cerebral peduncleAutism spectrum disorderAbnormal neural circuitsPosterior thalamic radiationGray matter volumeFunctional connectivity studiesSuperior longitudinal fasciculusStudy of subjectsCerebral peduncleInternal capsuleRisk factorsDental abnormalitiesCorpus callosumCommissural fibersHematological problemsCorona radiataDorsal striatumNeurobehavioral evaluationAnteverted nares
2013
A CACNA1C Mutation that Causes a Subset of Timothy Syndrome Phenotypes Correlates
Hennessey J, Jiang Y, Miller J, Stadt H, Patrick W, Pfeiffer R, Antzelevitch C, Kanter R, Pitt G. A CACNA1C Mutation that Causes a Subset of Timothy Syndrome Phenotypes Correlates. Heart Rhythm 2013, 10: 1745. DOI: 10.1016/j.hrthm.2013.09.026.Peer-Reviewed Original ResearchLong QT syndromeVoltage-dependent inactivationCACNA1C mutationsCav1.2 L-type Ca2Congenital long QT syndromeSkeletal muscleL-type Ca2T phenotypeExtracardiac manifestationsElectrophysiologic studyVentricular tachyarrhythmiasCACNA1C expressionDental abnormalitiesLQTS patientsReporter miceQT syndromeCav1.2 expressionCraniofacial dysmorphiaCanonical mutationsSkeletal myopathyPatientsSyndrome phenotypeSyndromeChromosomal translocationsRecent reports