Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2009-09

AUTHORS

Gabsang Lee, Eirini P. Papapetrou, Hyesoo Kim, Stuart M. Chambers, Mark J. Tomishima, Christopher A. Fasano, Yosif M. Ganat, Jayanthi Menon, Fumiko Shimizu, Agnes Viale, Viviane Tabar, Michel Sadelain, Lorenz Studer

ABSTRACT

The isolation of human induced pluripotent stem cells (iPSCs) offers a new strategy for modelling human disease. Recent studies have reported the derivation and differentiation of disease-specific human iPSCs. However, a key challenge in the field is the demonstration of disease-related phenotypes and the ability to model pathogenesis and treatment of disease in iPSCs. Familial dysautonomia (FD) is a rare but fatal peripheral neuropathy, caused by a point mutation in the IKBKAP gene involved in transcriptional elongation. The disease is characterized by the depletion of autonomic and sensory neurons. The specificity to the peripheral nervous system and the mechanism of neuron loss in FD are poorly understood owing to the lack of an appropriate model system. Here we report the derivation of patient-specific FD-iPSCs and the directed differentiation into cells of all three germ layers including peripheral neurons. Gene expression analysis in purified FD-iPSC-derived lineages demonstrates tissue-specific mis-splicing of IKBKAP in vitro. Patient-specific neural crest precursors express particularly low levels of normal IKBKAP transcript, suggesting a mechanism for disease specificity. FD pathogenesis is further characterized by transcriptome analysis and cell-based assays revealing marked defects in neurogenic differentiation and migration behaviour. Furthermore, we use FD-iPSCs for validating the potency of candidate drugs in reversing aberrant splicing and ameliorating neuronal differentiation and migration. Our study illustrates the promise of iPSC technology for gaining new insights into human disease pathogenesis and treatment. More... »

PAGES

402

Journal

TITLE

Nature

ISSUE

7262

VOLUME

461

Related Patents

  • Compositions And Methods For Generation Of Human Epithelial Stem Cells
  • Modified Polynucleotides For The Production Of Secreted Proteins
  • Engineered Nucleic Acids Encoding A Modified Erythropoietin And Their Expression
  • Modified Polynucleotides For The Production Of Biologics And Proteins Associated With Human Disease
  • Modified Polynucleotides Encoding Granulysin
  • Modified Polynucleotides For Treating Galactosylceramidase Protein Deficiency
  • Models For Parkinson's Disease Studies
  • Modified Nucleosides, Nucleotides, And Nucleic Acids, And Uses Thereof
  • Rna Preparations Comprising Purified Modified Rna For Reprogramming Cells
  • Modified Polynucleotides Encoding Cited4
  • Modified Polynucleotides For The Production Of Nuclear Proteins
  • Modified Polynucleotides Encoding Septin-4
  • Compositions And Methods For Reprogramming Eukaryotic Cells
  • Modified Polynucleotides For Treating Protein Deficiency
  • Differentiation Into Brown Adipocytes
  • Engineered Nucleic Acids And Methods Of Use Thereof
  • Modified Polynucleotides Encoding Apoptosis Inducing Factor 1
  • Delivery And Formulation Of Engineered Nucleic Acids
  • Rna Preparations Comprising Purified Modified Rna For Reprogramming Cells
  • Modified Polynucleotides For The Production Of Proteins Associated With Human Disease
  • Delivery And Formulation Of Engineered Nucleic Acids
  • Identifying Genetic Variation In Affected Tissues
  • Rna Preparations Comprising Purified Modified Rna For Reprogramming Cells
  • Engineered Nucleic Acids And Methods Of Use Thereof
  • Modified Polynucleotides Encoding Copper Metabolism (Murr1) Domain Containing 1
  • Analysis Of Compounds For Pain And Sensory Disorders
  • Making And Using In Vitro-Synthesized Ssrna For Introducing Into Mammalian Cells To Induce A Biological Or Biochemical Effect
  • Engineered Nucleic Acids And Methods Of Use Thereof
  • Formulation And Delivery Of Plga Microspheres
  • Compositions And Methods For Reprogramming Eukaryotic Cells
  • Compositions And Methods Of Altering Cholesterol Levels
  • Modified Polynucleotides Encoding Basic Helix-Loop-Helix Family Member E41
  • Modified Polynucleotides For The Production Of Proteins
  • Engineered Nucleic Acids And Methods Of Use Thereof
  • Engineered Nucleic Acids And Methods Of Use Thereof
  • Modified Polynucleotides For The Production Of Oncology-Related Proteins And Peptides
  • Modified Polynucleotides For The Production Of G-Csf
  • In Vitro Model Of Spinal Muscular Atrophy
  • Engineered Nucleic Acids And Methods Of Use Thereof
  • Terminally Modified Rna
  • Modified Nucleosides, Nucleotides, And Nucleic Acids, And Uses Thereof
  • Engineered Nucleic Acids And Methods Of Use Thereof
  • Modified Polynucleotides For The Production Of Cosmetic Proteins And Peptides
  • Modified Polynucleotides Encoding Siah E3 Ubiquitin Protein Ligase 1
  • Making And Using In Vitro-Synthesized Ssrna For Introducing Into Mammalian Cells To Induce A Biological Or Biochemical Effect
  • Dlin-Kc2-Dma Lipid Nanoparticle Delivery Of Modified Polynucleotides
  • Modified Polynucleotides For The Production Of Secreted Proteins
  • Methods For Altering Mrna Splicing And Treating Familial Dysautonomia By Administering Benzyladenine
  • Modified Polynucleotides Encoding Hepatitis A Virus Cellular Receptor 2
  • In Vivo Production Of Proteins
  • Methods For Altering Mrna Splicing And Treating Familial Dysautonomia And Other Mechanistically Related Disorders
  • Modified Polynucleotides For The Production Of Proteins
  • Modified Nucleosides, Nucleotides, And Nucleic Acids, And Uses Thereof
  • Method For Producing A Protein Of Interest In A Primate
  • Modified Polynucleotides Encoding Aquaporin-5
  • Modified Polynucleotides For The Production Of Proteins Associated With Blood And Lymphatic Disorders
  • Modified Polynucleotides For The Production Of Cytoplasmic And Cytoskeletal Proteins
  • Modified Polynucleotides For The Production Of Cytoplasmic And Cytoskeletal Proteins
  • Rna Preparations Comprising Purified Modified Rna For Reprogramming Cells
  • Rna Preparations Comprising Purified Modified Rna For Reprogramming Cells
  • Split Dose Administration
  • Diagnostic Methods For Neuronal Disorders
  • Modified Polynucleotides Encoding Aryl Hydrocarbon Receptor Nuclear Translocator
  • Rna Preparations Comprising Purified Modified Rna For Reprogramming Cells
  • Modified Nucleosides, Nucleotides, And Nucleic Acids, And Uses Thereof
  • Modified Polynucleotides For The Production Of Proteins Associated With Blood And Lymphatic Disorders
  • Modified Polynucleotides For The Production Of Biologics And Proteins Associated With Human Disease
  • Formulation And Delivery Of Plga Microspheres
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nature08320

    DOI

    http://dx.doi.org/10.1038/nature08320

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1044017606

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/19693009


    Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
    Incoming Citations Browse incoming citations for this publication using opencitations.net

    JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1109", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Neurosciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Medical and Health Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Adolescent", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Alternative Splicing", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Animals", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Carrier Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cell Dedifferentiation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cell Differentiation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cell Lineage", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cell Movement", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cells, Cultured", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Child", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Dysautonomia, Familial", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Fibroblasts", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Gene Expression Profiling", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Kinetin", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mice", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Models, Biological", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Neural Crest", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Organ Specificity", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Phenotype", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Pluripotent Stem Cells", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "name": [
                "Developmental Biology Program,"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lee", 
            "givenName": "Gabsang", 
            "id": "sg:person.01362764045.30", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01362764045.30"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Center for Cell Engineering,"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Papapetrou", 
            "givenName": "Eirini P.", 
            "id": "sg:person.01175455717.64", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01175455717.64"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Developmental Biology Program,"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kim", 
            "givenName": "Hyesoo", 
            "id": "sg:person.01225656362.82", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225656362.82"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Developmental Biology Program,"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chambers", 
            "givenName": "Stuart M.", 
            "id": "sg:person.01107224602.39", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01107224602.39"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Developmental Biology Program,", 
                "Center for Cell Engineering,", 
                "SKI Stem Cell Research Facility,"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Tomishima", 
            "givenName": "Mark J.", 
            "id": "sg:person.01307371552.41", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01307371552.41"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Developmental Biology Program,"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Fasano", 
            "givenName": "Christopher A.", 
            "id": "sg:person.01155340002.58", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01155340002.58"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Developmental Biology Program,", 
                "Weill Cornell Graduate School, New York, New York 10065, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ganat", 
            "givenName": "Yosif M.", 
            "id": "sg:person.01345522660.56", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01345522660.56"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Neurosurgery,"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Menon", 
            "givenName": "Jayanthi", 
            "id": "sg:person.01017333451.08", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01017333451.08"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Neurosurgery,"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Shimizu", 
            "givenName": "Fumiko", 
            "id": "sg:person.0654211006.02", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0654211006.02"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Genomics Core Facility, Sloan-Kettering Institute, 1275 York Ave,"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Viale", 
            "givenName": "Agnes", 
            "id": "sg:person.0712021032.88", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0712021032.88"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Center for Cell Engineering,", 
                "Department of Neurosurgery,"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Tabar", 
            "givenName": "Viviane", 
            "id": "sg:person.01127720751.27", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01127720751.27"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Center for Cell Engineering,"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Sadelain", 
            "givenName": "Michel", 
            "id": "sg:person.01166755103.15", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166755103.15"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Developmental Biology Program,", 
                "Center for Cell Engineering,", 
                "Department of Neurosurgery,"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Studer", 
            "givenName": "Lorenz", 
            "id": "sg:person.0642253700.03", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0642253700.03"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1517/14656566.6.4.561", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002848105"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0006-291x(03)00971-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002969949"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0006-291x(03)00971-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002969949"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1067/mpd.2002.127088", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006747530"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1067/mpd.2002.127088", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006747530"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddh046", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008438907"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.cell.2007.11.019", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010904856"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1634/stemcells.2008-0884", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011579796"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature06534", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011992920", 
              "https://doi.org/10.1038/nature06534"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1182/blood-2006-09-047704", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014643799"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.cell.2009.02.013", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019496424"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.0404700101", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025625724"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nmeth1041", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027071647", 
              "https://doi.org/10.1038/nmeth1041"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1242/jcs.013722", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031875157"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nbt.1529", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036082106", 
              "https://doi.org/10.1038/nbt.1529"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature07677", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036115204", 
              "https://doi.org/10.1038/nature07677"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/0896-6273(95)90005-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039409825"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1158799", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039463429"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nbt1365", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039916118", 
              "https://doi.org/10.1038/nbt1365"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.bbrc.2003.09.019", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043716728"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.bbrc.2003.09.019", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043716728"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.molcel.2006.04.017", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044352010"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gad.1616208", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1044368296"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.0904825106", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045086889"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.cell.2008.07.041", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047970638"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1151526", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048905674"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nbt1163", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051219192", 
              "https://doi.org/10.1038/nbt1163"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nbt1163", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051219192", 
              "https://doi.org/10.1038/nbt1163"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nm1725", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051248157", 
              "https://doi.org/10.1038/nm1725"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/318808", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058622548"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/318810", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058622550"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1085649", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1062448225"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1076974787", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1077654298", 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2009-09", 
        "datePublishedReg": "2009-09-01", 
        "description": "The isolation of human induced pluripotent stem cells (iPSCs) offers a new strategy for modelling human disease. Recent studies have reported the derivation and differentiation of disease-specific human iPSCs. However, a key challenge in the field is the demonstration of disease-related phenotypes and the ability to model pathogenesis and treatment of disease in iPSCs. Familial dysautonomia (FD) is a rare but fatal peripheral neuropathy, caused by a point mutation in the IKBKAP gene involved in transcriptional elongation. The disease is characterized by the depletion of autonomic and sensory neurons. The specificity to the peripheral nervous system and the mechanism of neuron loss in FD are poorly understood owing to the lack of an appropriate model system. Here we report the derivation of patient-specific FD-iPSCs and the directed differentiation into cells of all three germ layers including peripheral neurons. Gene expression analysis in purified FD-iPSC-derived lineages demonstrates tissue-specific mis-splicing of IKBKAP in vitro. Patient-specific neural crest precursors express particularly low levels of normal IKBKAP transcript, suggesting a mechanism for disease specificity. FD pathogenesis is further characterized by transcriptome analysis and cell-based assays revealing marked defects in neurogenic differentiation and migration behaviour. Furthermore, we use FD-iPSCs for validating the potency of candidate drugs in reversing aberrant splicing and ameliorating neuronal differentiation and migration. Our study illustrates the promise of iPSC technology for gaining new insights into human disease pathogenesis and treatment.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1038/nature08320", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.2561509", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1018957", 
            "issn": [
              "0090-0028", 
              "1476-4687"
            ], 
            "name": "Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "7262", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "461"
          }
        ], 
        "name": "Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs", 
        "pagination": "402", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "d1aba26ad205dea25d5177a583af426a313e76ffe2358f3e946a16e0b836e832"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "19693009"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "0410462"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/nature08320"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1044017606"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/nature08320", 
          "https://app.dimensions.ai/details/publication/pub.1044017606"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-11T09:22", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000345_0000000345/records_64081_00000001.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://www.nature.com/articles/nature08320"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/nature08320'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/nature08320'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/nature08320'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/nature08320'


     

    This table displays all metadata directly associated to this object as RDF triples.

    371 TRIPLES      21 PREDICATES      82 URIs      44 LITERALS      32 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/nature08320 schema:about N102ba6b337ab481fbd52b7beb4a90924
    2 N1172beaf74b34d368c7d4204fab53313
    3 N1482f312408241e38b721eaea5be6c80
    4 N1cca234324c148408e648818b2d15481
    5 N1f9ebfe3f4fc478ebdcdcf2d28339a2e
    6 N32ce444b5dd14c1a87ac904d6a5a23ea
    7 N4db3ea1575e741f884184f21cd49ec78
    8 N5540d03ba6f44d9d8197d29cbd196693
    9 N5a4020552cf24333b0b796335f4e9fd4
    10 N77219dee3e02454c97685d5d04440307
    11 N7e81f22f66224048be59cb4e2cb845cd
    12 N7fa78f684c8c43d289a817c818751db7
    13 N99e1cff01e05421ea02a002f8ddfe030
    14 N9cb085b25a6b49118fe12ac8937c8484
    15 Na3d7da35cb8249a59034f7a594ceceec
    16 Na43687a3efce44788ad57b9d6fab8018
    17 Nb2f894223da544069fe75c3566408bed
    18 Nbaf5cd1314644c8f8278a1e9d3e03728
    19 Nbdcd2ed7fa2447298382a1c171d6d6f6
    20 Ncad28385fe0f45d982f9e0c9a976229e
    21 Nd12574bee5754f3f8c33bea1ef187bd0
    22 Nd54e5f6f4cff4c96a9883f805272e06c
    23 Ne8c5e7cf82a644db9f6e07814a775465
    24 anzsrc-for:11
    25 anzsrc-for:1109
    26 schema:author N713c0014ddcd409b88fad751c4f3fb16
    27 schema:citation sg:pub.10.1038/nature06534
    28 sg:pub.10.1038/nature07677
    29 sg:pub.10.1038/nbt.1529
    30 sg:pub.10.1038/nbt1163
    31 sg:pub.10.1038/nbt1365
    32 sg:pub.10.1038/nm1725
    33 sg:pub.10.1038/nmeth1041
    34 https://app.dimensions.ai/details/publication/pub.1076974787
    35 https://app.dimensions.ai/details/publication/pub.1077654298
    36 https://doi.org/10.1016/0896-6273(95)90005-5
    37 https://doi.org/10.1016/j.bbrc.2003.09.019
    38 https://doi.org/10.1016/j.cell.2007.11.019
    39 https://doi.org/10.1016/j.cell.2008.07.041
    40 https://doi.org/10.1016/j.cell.2009.02.013
    41 https://doi.org/10.1016/j.molcel.2006.04.017
    42 https://doi.org/10.1016/s0006-291x(03)00971-9
    43 https://doi.org/10.1067/mpd.2002.127088
    44 https://doi.org/10.1073/pnas.0404700101
    45 https://doi.org/10.1073/pnas.0904825106
    46 https://doi.org/10.1086/318808
    47 https://doi.org/10.1086/318810
    48 https://doi.org/10.1093/hmg/ddh046
    49 https://doi.org/10.1101/gad.1616208
    50 https://doi.org/10.1126/science.1085649
    51 https://doi.org/10.1126/science.1151526
    52 https://doi.org/10.1126/science.1158799
    53 https://doi.org/10.1182/blood-2006-09-047704
    54 https://doi.org/10.1242/jcs.013722
    55 https://doi.org/10.1517/14656566.6.4.561
    56 https://doi.org/10.1634/stemcells.2008-0884
    57 schema:datePublished 2009-09
    58 schema:datePublishedReg 2009-09-01
    59 schema:description The isolation of human induced pluripotent stem cells (iPSCs) offers a new strategy for modelling human disease. Recent studies have reported the derivation and differentiation of disease-specific human iPSCs. However, a key challenge in the field is the demonstration of disease-related phenotypes and the ability to model pathogenesis and treatment of disease in iPSCs. Familial dysautonomia (FD) is a rare but fatal peripheral neuropathy, caused by a point mutation in the IKBKAP gene involved in transcriptional elongation. The disease is characterized by the depletion of autonomic and sensory neurons. The specificity to the peripheral nervous system and the mechanism of neuron loss in FD are poorly understood owing to the lack of an appropriate model system. Here we report the derivation of patient-specific FD-iPSCs and the directed differentiation into cells of all three germ layers including peripheral neurons. Gene expression analysis in purified FD-iPSC-derived lineages demonstrates tissue-specific mis-splicing of IKBKAP in vitro. Patient-specific neural crest precursors express particularly low levels of normal IKBKAP transcript, suggesting a mechanism for disease specificity. FD pathogenesis is further characterized by transcriptome analysis and cell-based assays revealing marked defects in neurogenic differentiation and migration behaviour. Furthermore, we use FD-iPSCs for validating the potency of candidate drugs in reversing aberrant splicing and ameliorating neuronal differentiation and migration. Our study illustrates the promise of iPSC technology for gaining new insights into human disease pathogenesis and treatment.
    60 schema:genre research_article
    61 schema:inLanguage en
    62 schema:isAccessibleForFree true
    63 schema:isPartOf N2a2957469f2e411199c587f9a4203e0d
    64 N7f421f51c2af4bfe9f1b48777de2bece
    65 sg:journal.1018957
    66 schema:name Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs
    67 schema:pagination 402
    68 schema:productId N1b37dac02b814e129c6d54def232832a
    69 N20262e5411b74264b289f7e6eb8417b3
    70 N4e10af65e39f435cbda364ce88d0335c
    71 N85b97c2c992841c2b2e737ad9d00fd47
    72 Ndcd182a5a1d34f05b988aaf38fdb89f0
    73 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044017606
    74 https://doi.org/10.1038/nature08320
    75 schema:sdDatePublished 2019-04-11T09:22
    76 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    77 schema:sdPublisher Nd513f04c155e41528807bd2317c4a491
    78 schema:url https://www.nature.com/articles/nature08320
    79 sgo:license sg:explorer/license/
    80 sgo:sdDataset articles
    81 rdf:type schema:ScholarlyArticle
    82 N102ba6b337ab481fbd52b7beb4a90924 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    83 schema:name Alternative Splicing
    84 rdf:type schema:DefinedTerm
    85 N1172beaf74b34d368c7d4204fab53313 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    86 schema:name Neural Crest
    87 rdf:type schema:DefinedTerm
    88 N133969ac68344ecb8a5803885efc2015 rdf:first sg:person.01345522660.56
    89 rdf:rest N7531fc1f653b40a182b7a5f0cce56e43
    90 N1482f312408241e38b721eaea5be6c80 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    91 schema:name Organ Specificity
    92 rdf:type schema:DefinedTerm
    93 N14b60cbd8ee84109bd19b005a75e052c schema:name Developmental Biology Program,
    94 rdf:type schema:Organization
    95 N1b37dac02b814e129c6d54def232832a schema:name dimensions_id
    96 schema:value pub.1044017606
    97 rdf:type schema:PropertyValue
    98 N1cca234324c148408e648818b2d15481 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    99 schema:name Humans
    100 rdf:type schema:DefinedTerm
    101 N1f9ebfe3f4fc478ebdcdcf2d28339a2e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    102 schema:name Cell Dedifferentiation
    103 rdf:type schema:DefinedTerm
    104 N20262e5411b74264b289f7e6eb8417b3 schema:name pubmed_id
    105 schema:value 19693009
    106 rdf:type schema:PropertyValue
    107 N2a2957469f2e411199c587f9a4203e0d schema:issueNumber 7262
    108 rdf:type schema:PublicationIssue
    109 N32ce444b5dd14c1a87ac904d6a5a23ea schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    110 schema:name Kinetin
    111 rdf:type schema:DefinedTerm
    112 N4be4a8b9cc0b49c18ac26ef130a4be9f rdf:first sg:person.0712021032.88
    113 rdf:rest N6ac87de3ad034bf6b904ffc58b1a3b29
    114 N4db3ea1575e741f884184f21cd49ec78 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    115 schema:name Female
    116 rdf:type schema:DefinedTerm
    117 N4e10af65e39f435cbda364ce88d0335c schema:name readcube_id
    118 schema:value d1aba26ad205dea25d5177a583af426a313e76ffe2358f3e946a16e0b836e832
    119 rdf:type schema:PropertyValue
    120 N4ff614282590432d8fa993ba3af784b2 schema:name Center for Cell Engineering,
    121 Developmental Biology Program,
    122 SKI Stem Cell Research Facility,
    123 rdf:type schema:Organization
    124 N5540d03ba6f44d9d8197d29cbd196693 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    125 schema:name Cell Lineage
    126 rdf:type schema:DefinedTerm
    127 N5a4020552cf24333b0b796335f4e9fd4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    128 schema:name Cells, Cultured
    129 rdf:type schema:DefinedTerm
    130 N5b6c17c8b87947348a7e83dae02266e2 schema:name Center for Cell Engineering,
    131 rdf:type schema:Organization
    132 N5db1013ace0c48b1a124fded53c7b512 rdf:first sg:person.01155340002.58
    133 rdf:rest N133969ac68344ecb8a5803885efc2015
    134 N6789bede8a294a2a904bc22a402bd129 rdf:first sg:person.01175455717.64
    135 rdf:rest N8773e0a4c2d54432a54fbd6e52f11ee2
    136 N686db5b1c5034896afa52756aa55c743 schema:name Department of Neurosurgery,
    137 rdf:type schema:Organization
    138 N6ac87de3ad034bf6b904ffc58b1a3b29 rdf:first sg:person.01127720751.27
    139 rdf:rest N96591bac563441aaabbfba131331a3fe
    140 N713c0014ddcd409b88fad751c4f3fb16 rdf:first sg:person.01362764045.30
    141 rdf:rest N6789bede8a294a2a904bc22a402bd129
    142 N7531fc1f653b40a182b7a5f0cce56e43 rdf:first sg:person.01017333451.08
    143 rdf:rest Ne479feb18c3a42ce94173fa8dee1b19c
    144 N77219dee3e02454c97685d5d04440307 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    145 schema:name Cell Differentiation
    146 rdf:type schema:DefinedTerm
    147 N7e81f22f66224048be59cb4e2cb845cd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    148 schema:name Adolescent
    149 rdf:type schema:DefinedTerm
    150 N7f421f51c2af4bfe9f1b48777de2bece schema:volumeNumber 461
    151 rdf:type schema:PublicationVolume
    152 N7fa78f684c8c43d289a817c818751db7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    153 schema:name Child
    154 rdf:type schema:DefinedTerm
    155 N85b97c2c992841c2b2e737ad9d00fd47 schema:name nlm_unique_id
    156 schema:value 0410462
    157 rdf:type schema:PropertyValue
    158 N8773e0a4c2d54432a54fbd6e52f11ee2 rdf:first sg:person.01225656362.82
    159 rdf:rest N93ea8e3bd038475bab6d15e931446da1
    160 N93d9e4cae5b542f69e2bbc4f2e34d028 rdf:first sg:person.0642253700.03
    161 rdf:rest rdf:nil
    162 N93ea8e3bd038475bab6d15e931446da1 rdf:first sg:person.01107224602.39
    163 rdf:rest Nc0f13caf5e914d6492fe5b35adbd556b
    164 N96591bac563441aaabbfba131331a3fe rdf:first sg:person.01166755103.15
    165 rdf:rest N93d9e4cae5b542f69e2bbc4f2e34d028
    166 N96bff56b439d41cf8aafe994a5bd0bc3 schema:name Developmental Biology Program,
    167 Weill Cornell Graduate School, New York, New York 10065, USA
    168 rdf:type schema:Organization
    169 N99e1cff01e05421ea02a002f8ddfe030 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    170 schema:name Cell Movement
    171 rdf:type schema:DefinedTerm
    172 N9cb085b25a6b49118fe12ac8937c8484 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    173 schema:name Carrier Proteins
    174 rdf:type schema:DefinedTerm
    175 Na3d7da35cb8249a59034f7a594ceceec schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    176 schema:name Fibroblasts
    177 rdf:type schema:DefinedTerm
    178 Na43687a3efce44788ad57b9d6fab8018 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    179 schema:name Mice
    180 rdf:type schema:DefinedTerm
    181 Nad1c41721de846f48dd4c5f476850e85 schema:name Developmental Biology Program,
    182 rdf:type schema:Organization
    183 Nb2f894223da544069fe75c3566408bed schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    184 schema:name Pluripotent Stem Cells
    185 rdf:type schema:DefinedTerm
    186 Nbaf5cd1314644c8f8278a1e9d3e03728 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    187 schema:name Models, Biological
    188 rdf:type schema:DefinedTerm
    189 Nbdcd2ed7fa2447298382a1c171d6d6f6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    190 schema:name Gene Expression Profiling
    191 rdf:type schema:DefinedTerm
    192 Nbe7f41fd04454030b328ddc92cc69e22 schema:name Center for Cell Engineering,
    193 Department of Neurosurgery,
    194 rdf:type schema:Organization
    195 Nc0f13caf5e914d6492fe5b35adbd556b rdf:first sg:person.01307371552.41
    196 rdf:rest N5db1013ace0c48b1a124fded53c7b512
    197 Ncad28385fe0f45d982f9e0c9a976229e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    198 schema:name Animals
    199 rdf:type schema:DefinedTerm
    200 Nce6c1e46190c4abf98d6f159ee339914 schema:name Genomics Core Facility, Sloan-Kettering Institute, 1275 York Ave,
    201 rdf:type schema:Organization
    202 Nd12574bee5754f3f8c33bea1ef187bd0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    203 schema:name Male
    204 rdf:type schema:DefinedTerm
    205 Nd25bbeba3a904c389a29a0644d456909 schema:name Department of Neurosurgery,
    206 rdf:type schema:Organization
    207 Nd513f04c155e41528807bd2317c4a491 schema:name Springer Nature - SN SciGraph project
    208 rdf:type schema:Organization
    209 Nd54e5f6f4cff4c96a9883f805272e06c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    210 schema:name Phenotype
    211 rdf:type schema:DefinedTerm
    212 Nd91e48f87a3248b488389a2fb523f07b schema:name Developmental Biology Program,
    213 rdf:type schema:Organization
    214 Ndcd182a5a1d34f05b988aaf38fdb89f0 schema:name doi
    215 schema:value 10.1038/nature08320
    216 rdf:type schema:PropertyValue
    217 Ne479feb18c3a42ce94173fa8dee1b19c rdf:first sg:person.0654211006.02
    218 rdf:rest N4be4a8b9cc0b49c18ac26ef130a4be9f
    219 Ne8c5e7cf82a644db9f6e07814a775465 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    220 schema:name Dysautonomia, Familial
    221 rdf:type schema:DefinedTerm
    222 Ne9eb10b4696e4e438fa5339d66592e03 schema:name Developmental Biology Program,
    223 rdf:type schema:Organization
    224 Nf03b0680203e44fea67a25b8728b8860 schema:name Center for Cell Engineering,
    225 Department of Neurosurgery,
    226 Developmental Biology Program,
    227 rdf:type schema:Organization
    228 Nf40ce99ad7d347129ba8e9a2711f7f5b schema:name Center for Cell Engineering,
    229 rdf:type schema:Organization
    230 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    231 schema:name Medical and Health Sciences
    232 rdf:type schema:DefinedTerm
    233 anzsrc-for:1109 schema:inDefinedTermSet anzsrc-for:
    234 schema:name Neurosciences
    235 rdf:type schema:DefinedTerm
    236 sg:grant.2561509 http://pending.schema.org/fundedItem sg:pub.10.1038/nature08320
    237 rdf:type schema:MonetaryGrant
    238 sg:journal.1018957 schema:issn 0090-0028
    239 1476-4687
    240 schema:name Nature
    241 rdf:type schema:Periodical
    242 sg:person.01017333451.08 schema:affiliation N686db5b1c5034896afa52756aa55c743
    243 schema:familyName Menon
    244 schema:givenName Jayanthi
    245 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01017333451.08
    246 rdf:type schema:Person
    247 sg:person.01107224602.39 schema:affiliation N14b60cbd8ee84109bd19b005a75e052c
    248 schema:familyName Chambers
    249 schema:givenName Stuart M.
    250 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01107224602.39
    251 rdf:type schema:Person
    252 sg:person.01127720751.27 schema:affiliation Nbe7f41fd04454030b328ddc92cc69e22
    253 schema:familyName Tabar
    254 schema:givenName Viviane
    255 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01127720751.27
    256 rdf:type schema:Person
    257 sg:person.01155340002.58 schema:affiliation Ne9eb10b4696e4e438fa5339d66592e03
    258 schema:familyName Fasano
    259 schema:givenName Christopher A.
    260 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01155340002.58
    261 rdf:type schema:Person
    262 sg:person.01166755103.15 schema:affiliation N5b6c17c8b87947348a7e83dae02266e2
    263 schema:familyName Sadelain
    264 schema:givenName Michel
    265 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166755103.15
    266 rdf:type schema:Person
    267 sg:person.01175455717.64 schema:affiliation Nf40ce99ad7d347129ba8e9a2711f7f5b
    268 schema:familyName Papapetrou
    269 schema:givenName Eirini P.
    270 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01175455717.64
    271 rdf:type schema:Person
    272 sg:person.01225656362.82 schema:affiliation Nd91e48f87a3248b488389a2fb523f07b
    273 schema:familyName Kim
    274 schema:givenName Hyesoo
    275 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225656362.82
    276 rdf:type schema:Person
    277 sg:person.01307371552.41 schema:affiliation N4ff614282590432d8fa993ba3af784b2
    278 schema:familyName Tomishima
    279 schema:givenName Mark J.
    280 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01307371552.41
    281 rdf:type schema:Person
    282 sg:person.01345522660.56 schema:affiliation N96bff56b439d41cf8aafe994a5bd0bc3
    283 schema:familyName Ganat
    284 schema:givenName Yosif M.
    285 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01345522660.56
    286 rdf:type schema:Person
    287 sg:person.01362764045.30 schema:affiliation Nad1c41721de846f48dd4c5f476850e85
    288 schema:familyName Lee
    289 schema:givenName Gabsang
    290 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01362764045.30
    291 rdf:type schema:Person
    292 sg:person.0642253700.03 schema:affiliation Nf03b0680203e44fea67a25b8728b8860
    293 schema:familyName Studer
    294 schema:givenName Lorenz
    295 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0642253700.03
    296 rdf:type schema:Person
    297 sg:person.0654211006.02 schema:affiliation Nd25bbeba3a904c389a29a0644d456909
    298 schema:familyName Shimizu
    299 schema:givenName Fumiko
    300 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0654211006.02
    301 rdf:type schema:Person
    302 sg:person.0712021032.88 schema:affiliation Nce6c1e46190c4abf98d6f159ee339914
    303 schema:familyName Viale
    304 schema:givenName Agnes
    305 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0712021032.88
    306 rdf:type schema:Person
    307 sg:pub.10.1038/nature06534 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011992920
    308 https://doi.org/10.1038/nature06534
    309 rdf:type schema:CreativeWork
    310 sg:pub.10.1038/nature07677 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036115204
    311 https://doi.org/10.1038/nature07677
    312 rdf:type schema:CreativeWork
    313 sg:pub.10.1038/nbt.1529 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036082106
    314 https://doi.org/10.1038/nbt.1529
    315 rdf:type schema:CreativeWork
    316 sg:pub.10.1038/nbt1163 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051219192
    317 https://doi.org/10.1038/nbt1163
    318 rdf:type schema:CreativeWork
    319 sg:pub.10.1038/nbt1365 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039916118
    320 https://doi.org/10.1038/nbt1365
    321 rdf:type schema:CreativeWork
    322 sg:pub.10.1038/nm1725 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051248157
    323 https://doi.org/10.1038/nm1725
    324 rdf:type schema:CreativeWork
    325 sg:pub.10.1038/nmeth1041 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027071647
    326 https://doi.org/10.1038/nmeth1041
    327 rdf:type schema:CreativeWork
    328 https://app.dimensions.ai/details/publication/pub.1076974787 schema:CreativeWork
    329 https://app.dimensions.ai/details/publication/pub.1077654298 schema:CreativeWork
    330 https://doi.org/10.1016/0896-6273(95)90005-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039409825
    331 rdf:type schema:CreativeWork
    332 https://doi.org/10.1016/j.bbrc.2003.09.019 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043716728
    333 rdf:type schema:CreativeWork
    334 https://doi.org/10.1016/j.cell.2007.11.019 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010904856
    335 rdf:type schema:CreativeWork
    336 https://doi.org/10.1016/j.cell.2008.07.041 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047970638
    337 rdf:type schema:CreativeWork
    338 https://doi.org/10.1016/j.cell.2009.02.013 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019496424
    339 rdf:type schema:CreativeWork
    340 https://doi.org/10.1016/j.molcel.2006.04.017 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044352010
    341 rdf:type schema:CreativeWork
    342 https://doi.org/10.1016/s0006-291x(03)00971-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002969949
    343 rdf:type schema:CreativeWork
    344 https://doi.org/10.1067/mpd.2002.127088 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006747530
    345 rdf:type schema:CreativeWork
    346 https://doi.org/10.1073/pnas.0404700101 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025625724
    347 rdf:type schema:CreativeWork
    348 https://doi.org/10.1073/pnas.0904825106 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045086889
    349 rdf:type schema:CreativeWork
    350 https://doi.org/10.1086/318808 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058622548
    351 rdf:type schema:CreativeWork
    352 https://doi.org/10.1086/318810 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058622550
    353 rdf:type schema:CreativeWork
    354 https://doi.org/10.1093/hmg/ddh046 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008438907
    355 rdf:type schema:CreativeWork
    356 https://doi.org/10.1101/gad.1616208 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044368296
    357 rdf:type schema:CreativeWork
    358 https://doi.org/10.1126/science.1085649 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062448225
    359 rdf:type schema:CreativeWork
    360 https://doi.org/10.1126/science.1151526 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048905674
    361 rdf:type schema:CreativeWork
    362 https://doi.org/10.1126/science.1158799 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039463429
    363 rdf:type schema:CreativeWork
    364 https://doi.org/10.1182/blood-2006-09-047704 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014643799
    365 rdf:type schema:CreativeWork
    366 https://doi.org/10.1242/jcs.013722 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031875157
    367 rdf:type schema:CreativeWork
    368 https://doi.org/10.1517/14656566.6.4.561 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002848105
    369 rdf:type schema:CreativeWork
    370 https://doi.org/10.1634/stemcells.2008-0884 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011579796
    371 rdf:type schema:CreativeWork
     




    Preview window. Press ESC to close (or click here)


    ...