Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

[1]  Lin Yao,et al.  Modeling Down Syndrome with Patient iPSCs Reveals Cellular and Migration Deficits of GABAergic Neurons , 2018, Stem cell reports.

[2]  Sara B. Linker,et al.  An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis , 2018, Molecular Psychiatry.

[3]  T. Kidd,et al.  The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene , 2017, PLoS genetics.

[4]  M. Korte,et al.  Not just amyloid: physiological functions of the amyloid precursor protein family , 2017, Nature Reviews Neuroscience.

[5]  Stylianos E. Antonarakis,et al.  Down syndrome and the complexity of genome dosage imbalance , 2016, Nature Reviews Genetics.

[6]  S. Bölte,et al.  Derivation of human iPS cell lines from monozygotic twins in defined and xeno free conditions. , 2017, Stem cell research.

[7]  Y. Goda,et al.  Integrins in synapse regulation , 2016, Nature Reviews Neuroscience.

[8]  S. K. Zaidi,et al.  Transient RUNX1 Expression during Early Mesendodermal Differentiation of hESCs Promotes Epithelial to Mesenchymal Transition through TGFB2 Signaling , 2016, Stem cell reports.

[9]  O. Yanuka,et al.  Molecular Characterization of Down Syndrome Embryonic Stem Cells Reveals a Role for RUNX1 in Neural Differentiation , 2016, Stem cell reports.

[10]  Heather C. Wick,et al.  An Integrated Human/Murine Transcriptome and Pathway Approach To Identify Prenatal Treatments For Down Syndrome , 2016, Scientific Reports.

[11]  Andrew D. Rouillard,et al.  Enrichr: a comprehensive gene set enrichment analysis web server 2016 update , 2016, Nucleic Acids Res..

[12]  A. Peters,et al.  Down Syndrome Developmental Brain Transcriptome Reveals Defective Oligodendrocyte Differentiation and Myelination , 2016, Neuron.

[13]  M. Stoneking,et al.  Age-Related and Heteroplasmy-Related Variation in Human mtDNA Copy Number , 2016, bioRxiv.

[14]  N. Kurabayashi,et al.  DYRK1A overexpression enhances STAT activity and astrogliogenesis in a Down syndrome mouse model , 2015, EMBO reports.

[15]  S. Antonarakis,et al.  DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins , 2015, PloS one.

[16]  Dean Nizetic,et al.  A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome , 2015, Nature Reviews Neuroscience.

[17]  S. Antonarakis,et al.  Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration , 2015, Stem cells.

[18]  Pierre J. Magistretti,et al.  A Cellular Perspective on Brain Energy Metabolism and Functional Imaging , 2015, Neuron.

[19]  L. Cavelier,et al.  Methods of Reprogramming to Induced Pluripotent Stem Cell Associated with Chromosomal Integrity and Delineation of a Chromosome 5q Candidate Region for Growth Advantage. , 2015, Stem cells and development.

[20]  W. Huber,et al.  Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2 , 2014, Genome Biology.

[21]  J. Johansson,et al.  Spider silk for xeno-free long-term self-renewal and differentiation of human pluripotent stem cells. , 2014, Biomaterials.

[22]  C. Chen,et al.  Role of astroglia in Down’s syndrome revealed by patient-derived human-induced pluripotent stem cells , 2014, Nature Communications.

[23]  Stylianos E. Antonarakis,et al.  Domains of genome-wide gene expression dysregulation in Down’s syndrome , 2014, Nature.

[24]  S. Antonarakis,et al.  Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 , 2013, EMBO molecular medicine.

[25]  Philip D. Gregory,et al.  Translating Dosage Compensation to Trisomy 21 , 2013, Nature.

[26]  Jason P. Weick,et al.  Deficits in human trisomy 21 iPSCs and neurons , 2013, Proceedings of the National Academy of Sciences.

[27]  W. A. Tyler,et al.  Multiplex Genetic Fate Mapping Reveals a Novel Route of Neocortical Neurogenesis, Which Is Altered in the Ts65Dn Mouse Model of Down Syndrome , 2013, The Journal of Neuroscience.

[28]  James Briggs,et al.  Integration‐Free Induced Pluripotent Stem Cells Model Genetic and Neural Developmental Features of Down Syndrome Etiology , 2013, Stem cells.

[29]  G. Helguera,et al.  Adaptive downregulation of mitochondrial function in down syndrome. , 2013, Cell metabolism.

[30]  D. Sheff,et al.  Immunostaining: detection of signaling protein location in tissues, cells and subcellular compartments. , 2013, Methods in cell biology.

[31]  Thomas R. Gingeras,et al.  STAR: ultrafast universal RNA-seq aligner , 2013, Bioinform..

[32]  Giuseppe Esposito,et al.  OLIG2 over-expression impairs proliferation of human Down syndrome neural progenitors. , 2012, Human molecular genetics.

[33]  S. Orkin,et al.  A Human Stem Cell Model of Early Alzheimer’s Disease Pathology in Down Syndrome , 2012, Science Translational Medicine.

[34]  R. Reeves,et al.  Trisomy 21 and early brain development , 2012, Trends in Neurosciences.

[35]  Matthew Trotter,et al.  Capture of Neuroepithelial-Like Stem Cells from Pluripotent Stem Cells Provides a Versatile System for In Vitro Production of Human Neurons , 2012, PloS one.

[36]  H. Lehrach,et al.  Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes , 2011, BMC Genomics.

[37]  Bernhard M. Schuldt,et al.  A bioinformatic assay for pluripotency in human cells , 2011, Nature Methods.

[38]  B. Pakkenberg,et al.  Reduced cell number in the neocortical part of the human fetal brain in Down syndrome. , 2008, Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft.

[39]  R. Bartesaghi,et al.  RESEARCH ARTICLE: Neurogenesis Impairment and Increased Cell Death Reduce Total Neuron Number in the Hippocampal Region of Fetuses with Down Syndrome , 2007, Brain pathology.

[40]  Brad T. Sherman,et al.  Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources , 2008, Nature Protocols.

[41]  A. Holland,et al.  Gene expression profiling in the adult Down syndrome brain. , 2007, Genomics.

[42]  T. Haydar,et al.  Defects in Embryonic Neurogenesis and Initial Synapse Formation in the Forebrain of the Ts65Dn Mouse Model of Down Syndrome , 2007, The Journal of Neuroscience.

[43]  C. Epstein,et al.  Synaptic and cognitive abnormalities in mouse models of down syndrome: Exploring genotype‐phenotype relationships , 2007, The Journal of comparative neurology.

[44]  Dario Greco,et al.  Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy , 2007, BMC Genomics.

[45]  Fabian Fernandez,et al.  Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome , 2007, Nature Neuroscience.

[46]  M. Mann,et al.  A practical recipe for stable isotope labeling by amino acids in cell culture (SILAC) , 2006, Nature Protocols.

[47]  Russell S Kirby,et al.  National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001. , 2006, Birth defects research. Part A, Clinical and molecular teratology.

[48]  Ingo Ruczinski,et al.  Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart , 2005, Genome Biology.

[49]  Hernán D. Reisin,et al.  Development of interlaminar astroglial processes in the cerebral cortex of control and Down's syndrome human cases , 2005, Experimental Neurology.

[50]  R. Malenka,et al.  Hippocampal Long-Term Potentiation Suppressed by Increased Inhibition in the Ts65Dn Mouse, a Genetic Model of Down Syndrome , 2004, The Journal of Neuroscience.

[51]  H. Cuckle,et al.  Mitochondrial dysfunction and Down's syndrome. , 2002, BioEssays : news and reviews in molecular, cellular and developmental biology.

[52]  N. Driesen,et al.  Selective neuroanatornic abnormalities in Down's syndrome and their cognitive correlates , 1995, Neurology.