Using induced pluripotent stem cells to investigate human neuronal phenotypes in 1q21.1 deletion and duplication syndrome

[1]  M. Owen,et al.  Assessment of emotions and behaviour by the Developmental Behaviour Checklist in young people with neurodevelopmental CNVs , 2020, Psychological Medicine.

[2]  K. Gottmann,et al.  Astrocyte lineage cells are essential for functional neuronal differentiation and synapse maturation in human iPSC‐derived neural networks , 2019, Glia.

[3]  D. Skuse,et al.  Genotype-phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study. , 2019, The lancet. Psychiatry.

[4]  M. Owen,et al.  Epilepsy and seizures in young people with 22q11.2 deletion syndrome: Prevalence and links with other neurodevelopmental disorders , 2019, Epilepsia.

[5]  W. Chung,et al.  Psychiatric disorders in children with 16p11.2 deletion and duplication , 2019, Translational Psychiatry.

[6]  G. Church,et al.  REST and Neural Gene Network Dysregulation in iPSC Models of Alzheimer’s Disease , 2019, Cell reports.

[7]  Jeremy Hall,et al.  L-type voltage-gated calcium channel regulation of in vitro human cortical neuronal networks , 2018, Scientific Reports.

[8]  N. Seyfried,et al.  Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior , 2018, The Journal of Neuroscience.

[9]  Michael C O'Donovan,et al.  Effects of pathogenic CNVs on physical traits in participants of the UK Biobank , 2018, BMC Genomics.

[10]  David Haussler,et al.  Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis , 2018, Cell.

[11]  Biren M. Dave,et al.  OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome , 2018, American journal of human genetics.

[12]  Michelle K. Cahill,et al.  Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder. , 2017, Cell Reports.

[13]  T. Werge,et al.  A mouse model of the schizophrenia-associated 1q21.1 microdeletion syndrome exhibits altered mesolimbic dopamine transmission , 2017, Translational Psychiatry.

[14]  S. Cavani,et al.  Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series , 2017, Italian Journal of Pediatrics.

[15]  Wei Cheng,et al.  Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects , 2016, Nature Genetics.

[16]  Monkol Lek,et al.  Patterns of genic intolerance of rare copy number variation in 59,898 human exomes , 2016, Nature Genetics.

[17]  Paul J. Harrison,et al.  A systematic review of calcium channel antagonists in bipolar disorder and some considerations for their future development , 2016, Molecular Psychiatry.

[18]  A. Odawara,et al.  Physiological maturation and drug responses of human induced pluripotent stem cell-derived cortical neuronal networks in long-term culture , 2016, Scientific Reports.

[19]  M. Barbosa,et al.  Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications , 2015, Journal of Medical Genetics.

[20]  G. Kirov,et al.  CNVs in neuropsychiatric disorders. , 2015, Human molecular genetics.

[21]  Kali T. Witherspoon,et al.  Excess of rare, inherited truncating mutations in autism , 2015, Nature Genetics.

[22]  Daniele Merico,et al.  Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes , 2014, Human Genetics.

[23]  L. Vissers,et al.  Genome sequencing identifies major causes of severe intellectual disability , 2014, Nature.

[24]  Sergey A. Shiryev,et al.  Single haplotype assembly of the human genome from a hydatidiform mole , 2014, bioRxiv.

[25]  P. Wipf,et al.  Evaluation of a Novel Calcium Channel Agonist for Therapeutic Potential in Lambert–Eaton Myasthenic Syndrome , 2013, The Journal of Neuroscience.

[26]  K. Jóźwiak,et al.  Influence of acute or chronic calcium channel antagonists on the acquisition and consolidation of memory and nicotine-induced cognitive effects in mice , 2013, Naunyn-Schmiedeberg's Archives of Pharmacology.

[27]  S. Scherer,et al.  1q21.1 Microduplication expression in adults , 2012, Genetics in Medicine.

[28]  S. Shi,et al.  Combined small molecule inhibition accelerates developmental timing and converts human pluripotent stem cells into nociceptors , 2012, Nature Biotechnology.

[29]  Evan T. Geller,et al.  Patterns and rates of exonic de novo mutations in autism spectrum disorders , 2012, Nature.

[30]  Matthew J. Thomas,et al.  Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes , 2012, European Journal of Human Genetics.

[31]  박찬영 Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome , 2012 .

[32]  Gregory M. Cooper,et al.  A Copy Number Variation Morbidity Map of Developmental Delay , 2011, Nature Genetics.

[33]  J. Rubenstein,et al.  Annual Research Review: Development of the cerebral cortex: implications for neurodevelopmental disorders. , 2011, Journal of child psychology and psychiatry, and allied disciplines.

[34]  H. Stefánsson,et al.  Supplementary webappendix , 2018 .

[35]  B. Z. Peterson,et al.  Roscovitine Binds to Novel L-channel (CaV1.2) Sites That Separately Affect Activation and Inactivation* , 2009, The Journal of Biological Chemistry.

[36]  P. Stankiewicz,et al.  Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities , 2008, Nature Genetics.

[37]  C. Baker,et al.  Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. , 2008, The New England journal of medicine.

[38]  J. Engel,et al.  Effects of phenylalkylamines and benzothiazepines on Ca(v)1.3-mediated Ca2+ currents in neonatal mouse inner hair cells. , 2007, European journal of pharmacology.

[39]  K. Elmslie,et al.  Slowed N-type calcium channel (CaV2.2) deactivation by the cyclin-dependent kinase inhibitor roscovitine. , 2005, Biophysical journal.

[40]  E. Eichler,et al.  Segmental duplications and copy-number variation in the human genome. , 2005, American journal of human genetics.

[41]  T. Teyler,et al.  NMDA receptors and voltage-dependent calcium channels mediate different aspects of acquisition and retention of a spatial memory task , 2004, Neurobiology of Learning and Memory.

[42]  N. Hirokawa,et al.  MAP2 is required for dendrite elongation, PKA anchoring in dendrites, and proper PKA signal transduction , 2002, The Journal of cell biology.

[43]  Sheng-tian Li,et al.  Cdk5/p35 Regulates Neurotransmitter Release through Phosphorylation and Downregulation of P/Q-Type Voltage-Dependent Calcium Channel Activity , 2002, The Journal of Neuroscience.

[44]  C. Walsh,et al.  Doublecortin Is a Microtubule-Associated Protein and Is Expressed Widely by Migrating Neurons , 1999, Neuron.

[45]  D. Dobrev,et al.  The effects of verapamil and diltiazem on N‐, P‐ and Q‐type calcium channels mediating dopamine release in rat striatum , 1999, British journal of pharmacology.

[46]  D. T. Yue,et al.  Inhibition of recombinant Ca2+ channels by benzothiazepines and phenylalkylamines: class-specific pharmacology and underlying molecular determinants. , 1997, Molecular pharmacology.

[47]  R. McKay,et al.  CNS stem cells express a new class of intermediate filament protein , 1990, Cell.

[48]  J. Schneiderman,et al.  Actions of verapamil on the excitability of cultured neurones. , 1983, Canadian Journal of Physiology and Pharmacology.