Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-12

AUTHORS

Emmanuelle Massouridès, Jérôme Polentes, Philippe-Emmanuel Mangeot, Virginie Mournetas, Juliette Nectoux, Nathalie Deburgrave, Patrick Nusbaum, France Leturcq, Linda Popplewell, George Dickson, Nicolas Wein, Kevin M. Flanigan, Marc Peschanski, Jamel Chelly, Christian Pinset

ABSTRACT

BACKGROUND: Duchenne muscular dystrophy (DMD) is a devastating X-linked recessive genetic myopathy. DMD physiopathology is still not fully understood and a prenatal onset is suspected but difficult to address. METHODS: The bone morphogenetic protein 4 (BMP4) is a critical signaling molecule involved in mesoderm commitment. Human induced pluripotent stem cells (hiPSCs) from DMD and healthy individuals and human embryonic stem cells (hESCs) treated with BMP4 allowed us to model the early steps of myogenesis in normal and DMD contexts. RESULTS: Unexpectedly, 72h following BMP4 treatment, a new long DMD transcript was detected in all tested hiPSCs and hESCs, at levels similar to that found in adult skeletal muscle. This novel transcript named "Dp412e" has a specific untranslated first exon which is conserved only in a sub-group of anthropoids including human. The corresponding novel dystrophin protein of 412-kiloDalton (kDa), characterized by an N-terminal-truncated actin-binding domain, was detected in normal BMP4-treated hiPSCs/hESCs and in embryoid bodies. Finally, using a phosphorodiamidate morpholino oligomer (PMO) targeting the DMD exon 53, we demonstrated the feasibility of exon skipping validation with this BMP4-inducible hiPSCs model. CONCLUSIONS: In this study, the use of hiPSCs to analyze early phases of human development in normal and DMD contexts has led to the discovery of an embryonic 412 kDa dystrophin isoform. Deciphering the regulation process(es) and the function(s) associated to this new isoform can contribute to a better understanding of the DMD physiopathology and potential developmental defects. Moreover, the simple and robust BMP4-inducible model highlighted here, providing large amount of a long DMD transcript and the corresponding protein in only 3 days, is already well-adapted to high-throughput and high-content screening approaches. Therefore, availability of this powerful cell platform can accelerate the development, validation and improvement of DMD genetic therapies. More... »

PAGES

40

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13395-015-0062-6

DOI

http://dx.doi.org/10.1186/s13395-015-0062-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1045991768

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26568816


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/2008/0601", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biochemistry and Cell Biology", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "name": [
            "I-STEM, CECS, G\u00e9nop\u00f4le-Campus 1, 5 rue Henri Desbru\u00e8res, 91030, Evry, Cedex, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Massourid\u00e8s", 
        "givenName": "Emmanuelle", 
        "id": "sg:person.01363053603.86", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01363053603.86"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "I-STEM, CECS, G\u00e9nop\u00f4le-Campus 1, 5 rue Henri Desbru\u00e8res, 91030, Evry, Cedex, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Polentes", 
        "givenName": "J\u00e9r\u00f4me", 
        "id": "sg:person.01344056455.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01344056455.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "International Center for Infectiology Research", 
          "id": "https://www.grid.ac/institutes/grid.462394.e", 
          "name": [
            "CIRI, International Center for Infectiology Research, Universit\u00e9 de Lyon, Lyon, France", 
            "Inserm, U1111, Lyon, France", 
            "CNRS, UMR5308, Lyon, France", 
            "Ecole Normale Sup\u00e9rieure de Lyon, Lyon, France", 
            "Universit\u00e9 Lyon 1, Centre International de Recherche en Infectiologie, Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mangeot", 
        "givenName": "Philippe-Emmanuel", 
        "id": "sg:person.01167262271.85", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167262271.85"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "UEVE U861, 91030, Evry, France", 
            "Inserm U861, 91030, Evry, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mournetas", 
        "givenName": "Virginie", 
        "id": "sg:person.01002675413.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01002675413.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Direction des Sciences du Vivant", 
          "id": "https://www.grid.ac/institutes/grid.419786.5", 
          "name": [
            "Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, HUPC H\u00f4pital Cochin, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nectoux", 
        "givenName": "Juliette", 
        "id": "sg:person.01317266302.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01317266302.09"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Direction des Sciences du Vivant", 
          "id": "https://www.grid.ac/institutes/grid.419786.5", 
          "name": [
            "Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, HUPC H\u00f4pital Cochin, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Deburgrave", 
        "givenName": "Nathalie", 
        "id": "sg:person.0671665015.70", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0671665015.70"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Direction des Sciences du Vivant", 
          "id": "https://www.grid.ac/institutes/grid.419786.5", 
          "name": [
            "Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, HUPC H\u00f4pital Cochin, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nusbaum", 
        "givenName": "Patrick", 
        "id": "sg:person.0741306635.98", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0741306635.98"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Direction des Sciences du Vivant", 
          "id": "https://www.grid.ac/institutes/grid.419786.5", 
          "name": [
            "Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, HUPC H\u00f4pital Cochin, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Leturcq", 
        "givenName": "France", 
        "id": "sg:person.01307403361.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01307403361.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Royal Holloway University of London", 
          "id": "https://www.grid.ac/institutes/grid.4970.a", 
          "name": [
            "School of Biological Sciences, Royal Holloway\u2014University of London, TW20 0EX, Surrey, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Popplewell", 
        "givenName": "Linda", 
        "id": "sg:person.0707633431.30", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0707633431.30"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Royal Holloway University of London", 
          "id": "https://www.grid.ac/institutes/grid.4970.a", 
          "name": [
            "School of Biological Sciences, Royal Holloway\u2014University of London, TW20 0EX, Surrey, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dickson", 
        "givenName": "George", 
        "id": "sg:person.01277162567.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277162567.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Nationwide Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.240344.5", 
          "name": [
            "Center for Gene Therapy, The Research Institute at Nationwide Children\u2019s Hospital, 43205, Columbus, OH, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wein", 
        "givenName": "Nicolas", 
        "id": "sg:person.0673614311.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673614311.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Nationwide Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.240344.5", 
          "name": [
            "Center for Gene Therapy, The Research Institute at Nationwide Children\u2019s Hospital, 43205, Columbus, OH, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Flanigan", 
        "givenName": "Kevin M.", 
        "id": "sg:person.0671723017.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0671723017.32"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "UEVE U861, 91030, Evry, France", 
            "Inserm U861, 91030, Evry, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Peschanski", 
        "givenName": "Marc", 
        "id": "sg:person.0762021144.44", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0762021144.44"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institute of Genetics and Molecular and Cellular Biology", 
          "id": "https://www.grid.ac/institutes/grid.420255.4", 
          "name": [
            "IGBMC-CNRS UMR7104/Inserm U964, 67404, Illkirch, Cedex, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Chelly", 
        "givenName": "Jamel", 
        "id": "sg:person.01037610071.33", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037610071.33"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "UEVE U861, 91030, Evry, France", 
            "Inserm U861, 91030, Evry, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pinset", 
        "givenName": "Christian", 
        "id": "sg:person.01265451365.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01265451365.00"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1002/humu.20913", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001697450"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00018-008-8495-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001809552", 
          "https://doi.org/10.1007/s00018-008-8495-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ncl.2014.05.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001875634"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ncomms8205", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002187518", 
          "https://doi.org/10.1038/ncomms8205"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ncomms8205", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002187518", 
          "https://doi.org/10.1038/ncomms8205"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1242/dmm.001008", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003539709"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gad.9.17.2105", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003744681"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1096/fj.13-232025", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004366352"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1471-2164-8-19", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005052626", 
          "https://doi.org/10.1186/1471-2164-8-19"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/pl00006292", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005115507", 
          "https://doi.org/10.1007/pl00006292"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/wco.0b013e328364fbaf", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005974741"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/wco.0b013e328364fbaf", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005974741"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.molbrainres.2003.07.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006155736"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.molbrainres.2003.07.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006155736"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/10454411930040033501", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006194703"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/10454411930040033501", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006194703"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.229202", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006260064"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1098/rstb.2012.0507", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006583478"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/76448", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008222973", 
          "https://doi.org/10.1038/76448"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/76448", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008222973", 
          "https://doi.org/10.1038/76448"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.nmd.2009.08.010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009377868"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/266472a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009983965", 
          "https://doi.org/10.1038/266472a0"
        ], 
        "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/10.1038/mt.2011.138", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011089823"
        ], 
        "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/10.1093/nar/20.7.1725", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012170868"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3390/v6114609", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013563877"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gks596", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014785724"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0022-510x(89)90223-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016704576"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0022-510x(89)90223-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016704576"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng0294-114", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018142611", 
          "https://doi.org/10.1038/ng0294-114"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00018-005-5461-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018640369", 
          "https://doi.org/10.1007/s00018-005-5461-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bib/1.3.236", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019253160"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1242/dev.00799", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019426017"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1242/dev.00799", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019426017"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/jcp.24290", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020898788"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1053/jcpa.2001.0526", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023503870"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.1974.tb01687.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024269846"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000084964", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027624101"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000084964", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027624101"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.93.18.9374", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028441723"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gad.6.8.1457", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028747001"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrg2640", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030857078", 
          "https://doi.org/10.1038/nrg2640"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrg2640", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030857078", 
          "https://doi.org/10.1038/nrg2640"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/338509a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030871702", 
          "https://doi.org/10.1038/338509a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1146/annurev-genom-090314-025003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031308422"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1089/hum.2012.099", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032952601"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1172/jci36612", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033396880"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/mus.23738", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033550093"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.274.50.35375", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036789875"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1182/blood-2007-02-074120", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037729391"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.2974", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039712379", 
          "https://doi.org/10.1038/ng.2974"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1474-4422(03)00585-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039878448"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.14.1.13", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040094085"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.22017", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041273509"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/15.22.9153", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042101464"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.stem.2011.06.015", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042460889"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00018-013-1396-z", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043758379", 
          "https://doi.org/10.1007/s00018-013-1396-z"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.2174/138920312801619475", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043923835"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/gb-2001-2-4-reviews3006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044453583", 
          "https://doi.org/10.1186/gb-2001-2-4-reviews3006"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1152/physrev.00028.2001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044608797"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.1380020409", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047183805"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.1380020409", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047183805"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/bbrc.1997.7579", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047774920"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/mgme.1999.2864", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049010429"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2012.301", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049144250", 
          "https://doi.org/10.1038/ejhg.2012.301"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0014-5793(88)80982-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049796900"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/mus.10435", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050080794"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/24.15.3059", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050654871"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/bbrc.1999.1962", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052009142"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nm.3628", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052101162", 
          "https://doi.org/10.1038/nm.3628"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/srep12831", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052146421", 
          "https://doi.org/10.1038/srep12831"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1096/fj.06-7285com", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052243068"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.biocel.2003.07.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052749212"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.biocel.2003.07.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052749212"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.nmd.2009.10.013", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053002485"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0008348", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053259419"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/89.4.769", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059443880"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/4.3.329", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059645329"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/endo.143.6.8949", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064284916"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1615/critreveukargeneexpr.v19.i2.10", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1068131077"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1075121844", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1077058237", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1083108367", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2015-12", 
    "datePublishedReg": "2015-12-01", 
    "description": "BACKGROUND: Duchenne muscular dystrophy (DMD) is a devastating X-linked recessive genetic myopathy. DMD physiopathology is still not fully understood and a prenatal onset is suspected but difficult to address.\nMETHODS: The bone morphogenetic protein 4 (BMP4) is a critical signaling molecule involved in mesoderm commitment. Human induced pluripotent stem cells (hiPSCs) from DMD and healthy individuals and human embryonic stem cells (hESCs) treated with BMP4 allowed us to model the early steps of myogenesis in normal and DMD contexts.\nRESULTS: Unexpectedly, 72h following BMP4 treatment, a new long DMD transcript was detected in all tested hiPSCs and hESCs, at levels similar to that found in adult skeletal muscle. This novel transcript named \"Dp412e\" has a specific untranslated first exon which is conserved only in a sub-group of anthropoids including human. The corresponding novel dystrophin protein of 412-kiloDalton (kDa), characterized by an N-terminal-truncated actin-binding domain, was detected in normal BMP4-treated hiPSCs/hESCs and in embryoid bodies. Finally, using a phosphorodiamidate morpholino oligomer (PMO) targeting the DMD exon 53, we demonstrated the feasibility of exon skipping validation with this BMP4-inducible hiPSCs model.\nCONCLUSIONS: In this study, the use of hiPSCs to analyze early phases of human development in normal and DMD contexts has led to the discovery of an embryonic 412 kDa dystrophin isoform. Deciphering the regulation process(es) and the function(s) associated to this new isoform can contribute to a better understanding of the DMD physiopathology and potential developmental defects. Moreover, the simple and robust BMP4-inducible model highlighted here, providing large amount of a long DMD transcript and the corresponding protein in only 3 days, is already well-adapted to high-throughput and high-content screening approaches. Therefore, availability of this powerful cell platform can accelerate the development, validation and improvement of DMD genetic therapies.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/s13395-015-0062-6", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1045175", 
        "issn": [
          "2044-5040"
        ], 
        "name": "Skeletal Muscle", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "5"
      }
    ], 
    "name": "Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells", 
    "pagination": "40", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "db140d05aaf82d2beb8755b63acadee6d4cc8f2d6b2f921b2328a717b5b4f07e"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "26568816"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101561193"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s13395-015-0062-6"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1045991768"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s13395-015-0062-6", 
      "https://app.dimensions.ai/details/publication/pub.1045991768"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T15:02", 
    "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/v90/0000000001_0000000264/records_8663_00000515.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1186%2Fs13395-015-0062-6"
  }
]
 

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.10.1186/s13395-015-0062-6'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s13395-015-0062-6'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13395-015-0062-6'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13395-015-0062-6'


 

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

428 TRIPLES      21 PREDICATES      102 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s13395-015-0062-6 schema:about anzsrc-for:06
2 anzsrc-for:0601
3 schema:author N3dd7a01a2f1a41298f3ddb48912abe1b
4 schema:citation sg:pub.10.1007/pl00006292
5 sg:pub.10.1007/s00018-005-5461-0
6 sg:pub.10.1007/s00018-008-8495-2
7 sg:pub.10.1007/s00018-013-1396-z
8 sg:pub.10.1038/266472a0
9 sg:pub.10.1038/338509a0
10 sg:pub.10.1038/76448
11 sg:pub.10.1038/ejhg.2012.301
12 sg:pub.10.1038/nature06534
13 sg:pub.10.1038/ncomms8205
14 sg:pub.10.1038/ng.2974
15 sg:pub.10.1038/ng0294-114
16 sg:pub.10.1038/nm.3628
17 sg:pub.10.1038/nrg2640
18 sg:pub.10.1038/srep12831
19 sg:pub.10.1186/1471-2164-8-19
20 sg:pub.10.1186/gb-2001-2-4-reviews3006
21 https://app.dimensions.ai/details/publication/pub.1075121844
22 https://app.dimensions.ai/details/publication/pub.1077058237
23 https://app.dimensions.ai/details/publication/pub.1083108367
24 https://doi.org/10.1002/humu.1380020409
25 https://doi.org/10.1002/humu.20913
26 https://doi.org/10.1002/humu.22017
27 https://doi.org/10.1002/jcp.24290
28 https://doi.org/10.1002/mus.10435
29 https://doi.org/10.1002/mus.23738
30 https://doi.org/10.1006/bbrc.1997.7579
31 https://doi.org/10.1006/bbrc.1999.1962
32 https://doi.org/10.1006/mgme.1999.2864
33 https://doi.org/10.1016/0014-5793(88)80982-7
34 https://doi.org/10.1016/0022-510x(89)90223-2
35 https://doi.org/10.1016/j.biocel.2003.07.003
36 https://doi.org/10.1016/j.cell.2007.11.019
37 https://doi.org/10.1016/j.molbrainres.2003.07.002
38 https://doi.org/10.1016/j.ncl.2014.05.002
39 https://doi.org/10.1016/j.nmd.2009.08.010
40 https://doi.org/10.1016/j.nmd.2009.10.013
41 https://doi.org/10.1016/j.stem.2011.06.015
42 https://doi.org/10.1016/s1474-4422(03)00585-4
43 https://doi.org/10.1038/mt.2011.138
44 https://doi.org/10.1053/jcpa.2001.0526
45 https://doi.org/10.1073/pnas.93.18.9374
46 https://doi.org/10.1074/jbc.274.50.35375
47 https://doi.org/10.1089/hum.2012.099
48 https://doi.org/10.1093/bib/1.3.236
49 https://doi.org/10.1093/brain/89.4.769
50 https://doi.org/10.1093/hmg/4.3.329
51 https://doi.org/10.1093/nar/15.22.9153
52 https://doi.org/10.1093/nar/20.7.1725
53 https://doi.org/10.1093/nar/24.15.3059
54 https://doi.org/10.1093/nar/gks596
55 https://doi.org/10.1096/fj.06-7285com
56 https://doi.org/10.1096/fj.13-232025
57 https://doi.org/10.1097/wco.0b013e328364fbaf
58 https://doi.org/10.1098/rstb.2012.0507
59 https://doi.org/10.1101/gad.6.8.1457
60 https://doi.org/10.1101/gad.9.17.2105
61 https://doi.org/10.1101/gr.229202
62 https://doi.org/10.1111/j.1399-0004.1974.tb01687.x
63 https://doi.org/10.1136/jmg.14.1.13
64 https://doi.org/10.1146/annurev-genom-090314-025003
65 https://doi.org/10.1152/physrev.00028.2001
66 https://doi.org/10.1159/000084964
67 https://doi.org/10.1172/jci36612
68 https://doi.org/10.1177/10454411930040033501
69 https://doi.org/10.1182/blood-2007-02-074120
70 https://doi.org/10.1210/endo.143.6.8949
71 https://doi.org/10.1242/dev.00799
72 https://doi.org/10.1242/dmm.001008
73 https://doi.org/10.1371/journal.pone.0008348
74 https://doi.org/10.1615/critreveukargeneexpr.v19.i2.10
75 https://doi.org/10.2174/138920312801619475
76 https://doi.org/10.3390/v6114609
77 schema:datePublished 2015-12
78 schema:datePublishedReg 2015-12-01
79 schema:description BACKGROUND: Duchenne muscular dystrophy (DMD) is a devastating X-linked recessive genetic myopathy. DMD physiopathology is still not fully understood and a prenatal onset is suspected but difficult to address. METHODS: The bone morphogenetic protein 4 (BMP4) is a critical signaling molecule involved in mesoderm commitment. Human induced pluripotent stem cells (hiPSCs) from DMD and healthy individuals and human embryonic stem cells (hESCs) treated with BMP4 allowed us to model the early steps of myogenesis in normal and DMD contexts. RESULTS: Unexpectedly, 72h following BMP4 treatment, a new long DMD transcript was detected in all tested hiPSCs and hESCs, at levels similar to that found in adult skeletal muscle. This novel transcript named "Dp412e" has a specific untranslated first exon which is conserved only in a sub-group of anthropoids including human. The corresponding novel dystrophin protein of 412-kiloDalton (kDa), characterized by an N-terminal-truncated actin-binding domain, was detected in normal BMP4-treated hiPSCs/hESCs and in embryoid bodies. Finally, using a phosphorodiamidate morpholino oligomer (PMO) targeting the DMD exon 53, we demonstrated the feasibility of exon skipping validation with this BMP4-inducible hiPSCs model. CONCLUSIONS: In this study, the use of hiPSCs to analyze early phases of human development in normal and DMD contexts has led to the discovery of an embryonic 412 kDa dystrophin isoform. Deciphering the regulation process(es) and the function(s) associated to this new isoform can contribute to a better understanding of the DMD physiopathology and potential developmental defects. Moreover, the simple and robust BMP4-inducible model highlighted here, providing large amount of a long DMD transcript and the corresponding protein in only 3 days, is already well-adapted to high-throughput and high-content screening approaches. Therefore, availability of this powerful cell platform can accelerate the development, validation and improvement of DMD genetic therapies.
80 schema:genre research_article
81 schema:inLanguage en
82 schema:isAccessibleForFree true
83 schema:isPartOf N54222cb86dcb431cae2435057a68d4c1
84 Nafc17361753046a491485faaeb637fad
85 sg:journal.1045175
86 schema:name Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells
87 schema:pagination 40
88 schema:productId N059f41ca076940eab867132d07209af8
89 N636102ef696344bb975249fe79759327
90 N6e008e249b8148dbaaf44f93643aed46
91 Neabf9d42918849b1911a85641198dafb
92 Nf910a4c874c44d14b30e59a49dd98ad3
93 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045991768
94 https://doi.org/10.1186/s13395-015-0062-6
95 schema:sdDatePublished 2019-04-10T15:02
96 schema:sdLicense https://scigraph.springernature.com/explorer/license/
97 schema:sdPublisher N4937d8d6b2cc412a81e469553d9c3351
98 schema:url http://link.springer.com/10.1186%2Fs13395-015-0062-6
99 sgo:license sg:explorer/license/
100 sgo:sdDataset articles
101 rdf:type schema:ScholarlyArticle
102 N059f41ca076940eab867132d07209af8 schema:name pubmed_id
103 schema:value 26568816
104 rdf:type schema:PropertyValue
105 N31cefce75e1845c3a237791312e0c70f schema:name Inserm U861, 91030, Evry, France
106 UEVE U861, 91030, Evry, France
107 rdf:type schema:Organization
108 N37fb9a5044de4557aea753c7a8d2826e rdf:first sg:person.01037610071.33
109 rdf:rest Ne476a96990f3472b97a7f39b035239bd
110 N3dd7a01a2f1a41298f3ddb48912abe1b rdf:first sg:person.01363053603.86
111 rdf:rest N7d628cd0a2c7406aa73c7a21a707bd6c
112 N3f935b35dc614dfc828c258018c24a10 rdf:first sg:person.01307403361.48
113 rdf:rest Nec2898ce4cf14bdb81579ed825c79be7
114 N467e8c323d9f40639acc46456798212f rdf:first sg:person.0673614311.15
115 rdf:rest Naf8b416cc51b42299f5bc56042bec0b5
116 N4937d8d6b2cc412a81e469553d9c3351 schema:name Springer Nature - SN SciGraph project
117 rdf:type schema:Organization
118 N51f5d2a808ae47e7ae6643ec1a833566 rdf:first sg:person.0671665015.70
119 rdf:rest N79467aee6b534ea3be88605e804cc46b
120 N54222cb86dcb431cae2435057a68d4c1 schema:issueNumber 1
121 rdf:type schema:PublicationIssue
122 N636102ef696344bb975249fe79759327 schema:name doi
123 schema:value 10.1186/s13395-015-0062-6
124 rdf:type schema:PropertyValue
125 N6e008e249b8148dbaaf44f93643aed46 schema:name dimensions_id
126 schema:value pub.1045991768
127 rdf:type schema:PropertyValue
128 N72b4132bc8244431baec935a72073823 schema:name I-STEM, CECS, Génopôle-Campus 1, 5 rue Henri Desbruères, 91030, Evry, Cedex, France
129 rdf:type schema:Organization
130 N7719ac6ef6b647b7999b73563ad77a85 rdf:first sg:person.01277162567.25
131 rdf:rest N467e8c323d9f40639acc46456798212f
132 N79467aee6b534ea3be88605e804cc46b rdf:first sg:person.0741306635.98
133 rdf:rest N3f935b35dc614dfc828c258018c24a10
134 N7d628cd0a2c7406aa73c7a21a707bd6c rdf:first sg:person.01344056455.49
135 rdf:rest N8f29683ea101478f90fd6408d95e34b6
136 N8f29683ea101478f90fd6408d95e34b6 rdf:first sg:person.01167262271.85
137 rdf:rest N9804662482c7448db71382477f1dc5d4
138 N9804662482c7448db71382477f1dc5d4 rdf:first sg:person.01002675413.18
139 rdf:rest Nc86af85c8ac74d7093a068f3f7a413ab
140 Na820e3d243a549df86f73f131b7220d3 schema:name I-STEM, CECS, Génopôle-Campus 1, 5 rue Henri Desbruères, 91030, Evry, Cedex, France
141 rdf:type schema:Organization
142 Na97dee8ae7094c86b6f4944957be7c70 schema:name Inserm U861, 91030, Evry, France
143 UEVE U861, 91030, Evry, France
144 rdf:type schema:Organization
145 Naf8b416cc51b42299f5bc56042bec0b5 rdf:first sg:person.0671723017.32
146 rdf:rest Nd5cfdf76f9784b6cb6d2c47998a65a96
147 Nafc17361753046a491485faaeb637fad schema:volumeNumber 5
148 rdf:type schema:PublicationVolume
149 Nc86af85c8ac74d7093a068f3f7a413ab rdf:first sg:person.01317266302.09
150 rdf:rest N51f5d2a808ae47e7ae6643ec1a833566
151 Nd3783cabdb834292b16ce793fde674ec schema:name Inserm U861, 91030, Evry, France
152 UEVE U861, 91030, Evry, France
153 rdf:type schema:Organization
154 Nd5cfdf76f9784b6cb6d2c47998a65a96 rdf:first sg:person.0762021144.44
155 rdf:rest N37fb9a5044de4557aea753c7a8d2826e
156 Ne476a96990f3472b97a7f39b035239bd rdf:first sg:person.01265451365.00
157 rdf:rest rdf:nil
158 Neabf9d42918849b1911a85641198dafb schema:name readcube_id
159 schema:value db140d05aaf82d2beb8755b63acadee6d4cc8f2d6b2f921b2328a717b5b4f07e
160 rdf:type schema:PropertyValue
161 Nec2898ce4cf14bdb81579ed825c79be7 rdf:first sg:person.0707633431.30
162 rdf:rest N7719ac6ef6b647b7999b73563ad77a85
163 Nf910a4c874c44d14b30e59a49dd98ad3 schema:name nlm_unique_id
164 schema:value 101561193
165 rdf:type schema:PropertyValue
166 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
167 schema:name Biological Sciences
168 rdf:type schema:DefinedTerm
169 anzsrc-for:0601 schema:inDefinedTermSet anzsrc-for:
170 schema:name Biochemistry and Cell Biology
171 rdf:type schema:DefinedTerm
172 sg:journal.1045175 schema:issn 2044-5040
173 schema:name Skeletal Muscle
174 rdf:type schema:Periodical
175 sg:person.01002675413.18 schema:affiliation Na97dee8ae7094c86b6f4944957be7c70
176 schema:familyName Mournetas
177 schema:givenName Virginie
178 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01002675413.18
179 rdf:type schema:Person
180 sg:person.01037610071.33 schema:affiliation https://www.grid.ac/institutes/grid.420255.4
181 schema:familyName Chelly
182 schema:givenName Jamel
183 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037610071.33
184 rdf:type schema:Person
185 sg:person.01167262271.85 schema:affiliation https://www.grid.ac/institutes/grid.462394.e
186 schema:familyName Mangeot
187 schema:givenName Philippe-Emmanuel
188 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167262271.85
189 rdf:type schema:Person
190 sg:person.01265451365.00 schema:affiliation N31cefce75e1845c3a237791312e0c70f
191 schema:familyName Pinset
192 schema:givenName Christian
193 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01265451365.00
194 rdf:type schema:Person
195 sg:person.01277162567.25 schema:affiliation https://www.grid.ac/institutes/grid.4970.a
196 schema:familyName Dickson
197 schema:givenName George
198 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277162567.25
199 rdf:type schema:Person
200 sg:person.01307403361.48 schema:affiliation https://www.grid.ac/institutes/grid.419786.5
201 schema:familyName Leturcq
202 schema:givenName France
203 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01307403361.48
204 rdf:type schema:Person
205 sg:person.01317266302.09 schema:affiliation https://www.grid.ac/institutes/grid.419786.5
206 schema:familyName Nectoux
207 schema:givenName Juliette
208 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01317266302.09
209 rdf:type schema:Person
210 sg:person.01344056455.49 schema:affiliation N72b4132bc8244431baec935a72073823
211 schema:familyName Polentes
212 schema:givenName Jérôme
213 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01344056455.49
214 rdf:type schema:Person
215 sg:person.01363053603.86 schema:affiliation Na820e3d243a549df86f73f131b7220d3
216 schema:familyName Massouridès
217 schema:givenName Emmanuelle
218 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01363053603.86
219 rdf:type schema:Person
220 sg:person.0671665015.70 schema:affiliation https://www.grid.ac/institutes/grid.419786.5
221 schema:familyName Deburgrave
222 schema:givenName Nathalie
223 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0671665015.70
224 rdf:type schema:Person
225 sg:person.0671723017.32 schema:affiliation https://www.grid.ac/institutes/grid.240344.5
226 schema:familyName Flanigan
227 schema:givenName Kevin M.
228 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0671723017.32
229 rdf:type schema:Person
230 sg:person.0673614311.15 schema:affiliation https://www.grid.ac/institutes/grid.240344.5
231 schema:familyName Wein
232 schema:givenName Nicolas
233 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673614311.15
234 rdf:type schema:Person
235 sg:person.0707633431.30 schema:affiliation https://www.grid.ac/institutes/grid.4970.a
236 schema:familyName Popplewell
237 schema:givenName Linda
238 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0707633431.30
239 rdf:type schema:Person
240 sg:person.0741306635.98 schema:affiliation https://www.grid.ac/institutes/grid.419786.5
241 schema:familyName Nusbaum
242 schema:givenName Patrick
243 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0741306635.98
244 rdf:type schema:Person
245 sg:person.0762021144.44 schema:affiliation Nd3783cabdb834292b16ce793fde674ec
246 schema:familyName Peschanski
247 schema:givenName Marc
248 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0762021144.44
249 rdf:type schema:Person
250 sg:pub.10.1007/pl00006292 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005115507
251 https://doi.org/10.1007/pl00006292
252 rdf:type schema:CreativeWork
253 sg:pub.10.1007/s00018-005-5461-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018640369
254 https://doi.org/10.1007/s00018-005-5461-0
255 rdf:type schema:CreativeWork
256 sg:pub.10.1007/s00018-008-8495-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001809552
257 https://doi.org/10.1007/s00018-008-8495-2
258 rdf:type schema:CreativeWork
259 sg:pub.10.1007/s00018-013-1396-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1043758379
260 https://doi.org/10.1007/s00018-013-1396-z
261 rdf:type schema:CreativeWork
262 sg:pub.10.1038/266472a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009983965
263 https://doi.org/10.1038/266472a0
264 rdf:type schema:CreativeWork
265 sg:pub.10.1038/338509a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030871702
266 https://doi.org/10.1038/338509a0
267 rdf:type schema:CreativeWork
268 sg:pub.10.1038/76448 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008222973
269 https://doi.org/10.1038/76448
270 rdf:type schema:CreativeWork
271 sg:pub.10.1038/ejhg.2012.301 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049144250
272 https://doi.org/10.1038/ejhg.2012.301
273 rdf:type schema:CreativeWork
274 sg:pub.10.1038/nature06534 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011992920
275 https://doi.org/10.1038/nature06534
276 rdf:type schema:CreativeWork
277 sg:pub.10.1038/ncomms8205 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002187518
278 https://doi.org/10.1038/ncomms8205
279 rdf:type schema:CreativeWork
280 sg:pub.10.1038/ng.2974 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039712379
281 https://doi.org/10.1038/ng.2974
282 rdf:type schema:CreativeWork
283 sg:pub.10.1038/ng0294-114 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018142611
284 https://doi.org/10.1038/ng0294-114
285 rdf:type schema:CreativeWork
286 sg:pub.10.1038/nm.3628 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052101162
287 https://doi.org/10.1038/nm.3628
288 rdf:type schema:CreativeWork
289 sg:pub.10.1038/nrg2640 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030857078
290 https://doi.org/10.1038/nrg2640
291 rdf:type schema:CreativeWork
292 sg:pub.10.1038/srep12831 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052146421
293 https://doi.org/10.1038/srep12831
294 rdf:type schema:CreativeWork
295 sg:pub.10.1186/1471-2164-8-19 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005052626
296 https://doi.org/10.1186/1471-2164-8-19
297 rdf:type schema:CreativeWork
298 sg:pub.10.1186/gb-2001-2-4-reviews3006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044453583
299 https://doi.org/10.1186/gb-2001-2-4-reviews3006
300 rdf:type schema:CreativeWork
301 https://app.dimensions.ai/details/publication/pub.1075121844 schema:CreativeWork
302 https://app.dimensions.ai/details/publication/pub.1077058237 schema:CreativeWork
303 https://app.dimensions.ai/details/publication/pub.1083108367 schema:CreativeWork
304 https://doi.org/10.1002/humu.1380020409 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047183805
305 rdf:type schema:CreativeWork
306 https://doi.org/10.1002/humu.20913 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001697450
307 rdf:type schema:CreativeWork
308 https://doi.org/10.1002/humu.22017 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041273509
309 rdf:type schema:CreativeWork
310 https://doi.org/10.1002/jcp.24290 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020898788
311 rdf:type schema:CreativeWork
312 https://doi.org/10.1002/mus.10435 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050080794
313 rdf:type schema:CreativeWork
314 https://doi.org/10.1002/mus.23738 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033550093
315 rdf:type schema:CreativeWork
316 https://doi.org/10.1006/bbrc.1997.7579 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047774920
317 rdf:type schema:CreativeWork
318 https://doi.org/10.1006/bbrc.1999.1962 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052009142
319 rdf:type schema:CreativeWork
320 https://doi.org/10.1006/mgme.1999.2864 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049010429
321 rdf:type schema:CreativeWork
322 https://doi.org/10.1016/0014-5793(88)80982-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049796900
323 rdf:type schema:CreativeWork
324 https://doi.org/10.1016/0022-510x(89)90223-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016704576
325 rdf:type schema:CreativeWork
326 https://doi.org/10.1016/j.biocel.2003.07.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052749212
327 rdf:type schema:CreativeWork
328 https://doi.org/10.1016/j.cell.2007.11.019 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010904856
329 rdf:type schema:CreativeWork
330 https://doi.org/10.1016/j.molbrainres.2003.07.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006155736
331 rdf:type schema:CreativeWork
332 https://doi.org/10.1016/j.ncl.2014.05.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001875634
333 rdf:type schema:CreativeWork
334 https://doi.org/10.1016/j.nmd.2009.08.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009377868
335 rdf:type schema:CreativeWork
336 https://doi.org/10.1016/j.nmd.2009.10.013 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053002485
337 rdf:type schema:CreativeWork
338 https://doi.org/10.1016/j.stem.2011.06.015 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042460889
339 rdf:type schema:CreativeWork
340 https://doi.org/10.1016/s1474-4422(03)00585-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039878448
341 rdf:type schema:CreativeWork
342 https://doi.org/10.1038/mt.2011.138 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011089823
343 rdf:type schema:CreativeWork
344 https://doi.org/10.1053/jcpa.2001.0526 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023503870
345 rdf:type schema:CreativeWork
346 https://doi.org/10.1073/pnas.93.18.9374 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028441723
347 rdf:type schema:CreativeWork
348 https://doi.org/10.1074/jbc.274.50.35375 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036789875
349 rdf:type schema:CreativeWork
350 https://doi.org/10.1089/hum.2012.099 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032952601
351 rdf:type schema:CreativeWork
352 https://doi.org/10.1093/bib/1.3.236 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019253160
353 rdf:type schema:CreativeWork
354 https://doi.org/10.1093/brain/89.4.769 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059443880
355 rdf:type schema:CreativeWork
356 https://doi.org/10.1093/hmg/4.3.329 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059645329
357 rdf:type schema:CreativeWork
358 https://doi.org/10.1093/nar/15.22.9153 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042101464
359 rdf:type schema:CreativeWork
360 https://doi.org/10.1093/nar/20.7.1725 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012170868
361 rdf:type schema:CreativeWork
362 https://doi.org/10.1093/nar/24.15.3059 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050654871
363 rdf:type schema:CreativeWork
364 https://doi.org/10.1093/nar/gks596 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014785724
365 rdf:type schema:CreativeWork
366 https://doi.org/10.1096/fj.06-7285com schema:sameAs https://app.dimensions.ai/details/publication/pub.1052243068
367 rdf:type schema:CreativeWork
368 https://doi.org/10.1096/fj.13-232025 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004366352
369 rdf:type schema:CreativeWork
370 https://doi.org/10.1097/wco.0b013e328364fbaf schema:sameAs https://app.dimensions.ai/details/publication/pub.1005974741
371 rdf:type schema:CreativeWork
372 https://doi.org/10.1098/rstb.2012.0507 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006583478
373 rdf:type schema:CreativeWork
374 https://doi.org/10.1101/gad.6.8.1457 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028747001
375 rdf:type schema:CreativeWork
376 https://doi.org/10.1101/gad.9.17.2105 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003744681
377 rdf:type schema:CreativeWork
378 https://doi.org/10.1101/gr.229202 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006260064
379 rdf:type schema:CreativeWork
380 https://doi.org/10.1111/j.1399-0004.1974.tb01687.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1024269846
381 rdf:type schema:CreativeWork
382 https://doi.org/10.1136/jmg.14.1.13 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040094085
383 rdf:type schema:CreativeWork
384 https://doi.org/10.1146/annurev-genom-090314-025003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031308422
385 rdf:type schema:CreativeWork
386 https://doi.org/10.1152/physrev.00028.2001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044608797
387 rdf:type schema:CreativeWork
388 https://doi.org/10.1159/000084964 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027624101
389 rdf:type schema:CreativeWork
390 https://doi.org/10.1172/jci36612 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033396880
391 rdf:type schema:CreativeWork
392 https://doi.org/10.1177/10454411930040033501 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006194703
393 rdf:type schema:CreativeWork
394 https://doi.org/10.1182/blood-2007-02-074120 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037729391
395 rdf:type schema:CreativeWork
396 https://doi.org/10.1210/endo.143.6.8949 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064284916
397 rdf:type schema:CreativeWork
398 https://doi.org/10.1242/dev.00799 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019426017
399 rdf:type schema:CreativeWork
400 https://doi.org/10.1242/dmm.001008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003539709
401 rdf:type schema:CreativeWork
402 https://doi.org/10.1371/journal.pone.0008348 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053259419
403 rdf:type schema:CreativeWork
404 https://doi.org/10.1615/critreveukargeneexpr.v19.i2.10 schema:sameAs https://app.dimensions.ai/details/publication/pub.1068131077
405 rdf:type schema:CreativeWork
406 https://doi.org/10.2174/138920312801619475 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043923835
407 rdf:type schema:CreativeWork
408 https://doi.org/10.3390/v6114609 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013563877
409 rdf:type schema:CreativeWork
410 https://www.grid.ac/institutes/grid.240344.5 schema:alternateName Nationwide Children's Hospital
411 schema:name Center for Gene Therapy, The Research Institute at Nationwide Children’s Hospital, 43205, Columbus, OH, USA
412 rdf:type schema:Organization
413 https://www.grid.ac/institutes/grid.419786.5 schema:alternateName Direction des Sciences du Vivant
414 schema:name Service de Biochimie et Génétique Moléculaire, HUPC Hôpital Cochin, Paris, France
415 rdf:type schema:Organization
416 https://www.grid.ac/institutes/grid.420255.4 schema:alternateName Institute of Genetics and Molecular and Cellular Biology
417 schema:name IGBMC-CNRS UMR7104/Inserm U964, 67404, Illkirch, Cedex, France
418 rdf:type schema:Organization
419 https://www.grid.ac/institutes/grid.462394.e schema:alternateName International Center for Infectiology Research
420 schema:name CIRI, International Center for Infectiology Research, Université de Lyon, Lyon, France
421 CNRS, UMR5308, Lyon, France
422 Ecole Normale Supérieure de Lyon, Lyon, France
423 Inserm, U1111, Lyon, France
424 Université Lyon 1, Centre International de Recherche en Infectiologie, Lyon, France
425 rdf:type schema:Organization
426 https://www.grid.ac/institutes/grid.4970.a schema:alternateName Royal Holloway University of London
427 schema:name School of Biological Sciences, Royal Holloway—University of London, TW20 0EX, Surrey, UK
428 rdf:type schema:Organization
 




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


...