Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Layal Antoury, Ningyan Hu, Leonora Balaj, Sudeshna Das, Sofia Georghiou, Basil Darras, Tim Clark, Xandra O. Breakefield, Thurman M. Wheeler

ABSTRACT

Urine contains extracellular RNA (exRNA) markers of urogenital cancers. However, the capacity of genetic material in urine to identify systemic diseases is unknown. Here we describe exRNA splice products in human urine as a source of biomarkers for the two most common forms of muscular dystrophies, myotonic dystrophy (DM) and Duchenne muscular dystrophy (DMD). Using a training set, RT-PCR, droplet digital PCR, and principal component regression, we identify ten transcripts that are spliced differently in urine exRNA from patients with DM type 1 (DM1) as compared to unaffected or disease controls, form a composite biomarker, and develop a predictive model that is 100% accurate in our independent validation set. Urine also contains mutation-specific DMD mRNAs that confirm exon-skipping activity of the antisense oligonucleotide drug eteplirsen. Our results establish that urine mRNA splice variants can be used to monitor systemic diseases with minimal or no clinical effect on the urinary tract. More... »

PAGES

3906

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41467-018-06206-0

DOI

http://dx.doi.org/10.1038/s41467-018-06206-0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1107107975

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30254196


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/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "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": {
          "alternateName": "Harvard University", 
          "id": "https://www.grid.ac/institutes/grid.38142.3c", 
          "name": [
            "Department of Neurology, Massachusetts General Hospital, Boston, MA, USA", 
            "Harvard Medical School, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Antoury", 
        "givenName": "Layal", 
        "id": "sg:person.0773701463.29", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773701463.29"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Harvard University", 
          "id": "https://www.grid.ac/institutes/grid.38142.3c", 
          "name": [
            "Department of Neurology, Massachusetts General Hospital, Boston, MA, USA", 
            "Harvard Medical School, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hu", 
        "givenName": "Ningyan", 
        "id": "sg:person.013640267124.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013640267124.42"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Harvard University", 
          "id": "https://www.grid.ac/institutes/grid.38142.3c", 
          "name": [
            "Department of Neurology, Massachusetts General Hospital, Boston, MA, USA", 
            "Harvard Medical School, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Balaj", 
        "givenName": "Leonora", 
        "id": "sg:person.01366451521.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01366451521.05"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Harvard University", 
          "id": "https://www.grid.ac/institutes/grid.38142.3c", 
          "name": [
            "Department of Neurology, Massachusetts General Hospital, Boston, MA, USA", 
            "Harvard Medical School, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Das", 
        "givenName": "Sudeshna", 
        "id": "sg:person.01076001360.08", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01076001360.08"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Boston Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.2515.3", 
          "name": [
            "Harvard Medical School, Boston, MA, USA", 
            "Department of Neurology, Boston Children\u2019s Hospital, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Georghiou", 
        "givenName": "Sofia", 
        "id": "sg:person.07663446464.62", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07663446464.62"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Boston Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.2515.3", 
          "name": [
            "Harvard Medical School, Boston, MA, USA", 
            "Department of Neurology, Boston Children\u2019s Hospital, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Darras", 
        "givenName": "Basil", 
        "id": "sg:person.01106056436.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01106056436.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Harvard University", 
          "id": "https://www.grid.ac/institutes/grid.38142.3c", 
          "name": [
            "Department of Neurology, Massachusetts General Hospital, Boston, MA, USA", 
            "Harvard Medical School, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Clark", 
        "givenName": "Tim", 
        "id": "sg:person.01307535417.85", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01307535417.85"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Massachusetts General Hospital", 
          "id": "https://www.grid.ac/institutes/grid.32224.35", 
          "name": [
            "Department of Neurology, Massachusetts General Hospital, Boston, MA, USA", 
            "Harvard Medical School, Boston, MA, USA", 
            "Department of Radiology, Massachusetts General Hospital, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Breakefield", 
        "givenName": "Xandra O.", 
        "id": "sg:person.01226222634.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01226222634.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Harvard University", 
          "id": "https://www.grid.ac/institutes/grid.38142.3c", 
          "name": [
            "Department of Neurology, Massachusetts General Hospital, Boston, MA, USA", 
            "Harvard Medical School, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wheeler", 
        "givenName": "Thurman M.", 
        "id": "sg:person.0601130370.16", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0601130370.16"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/ng704", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000422948", 
          "https://doi.org/10.1038/ng704"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng704", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000422948", 
          "https://doi.org/10.1038/ng704"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ncb1800", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002499007", 
          "https://doi.org/10.1038/ncb1800"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2016.01.043", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003136107"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2016.01.043", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003136107"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.bjc.6605058", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004915171", 
          "https://doi.org/10.1038/sj.bjc.6605058"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.bjc.6605058", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004915171", 
          "https://doi.org/10.1038/sj.bjc.6605058"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/stem.1424", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005430424"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0154507", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012181135"
        ], 
        "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/10.1371/journal.pgen.1006316", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016299535"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1471-2407-12-22", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016708038", 
          "https://doi.org/10.1186/1471-2407-12-22"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.18632/oncotarget.9587", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017040834"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1038/mtna.2013.28", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018673889"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1062125", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018879853"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.289.5485.1769", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019476451"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1089/nat.2016.0657", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021448721"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/srep39094", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021612610", 
          "https://doi.org/10.1038/srep39094"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jmoldx.2015.07.008", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022438391"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nbt0308-303", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025364910", 
          "https://doi.org/10.1038/nbt0308-303"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gni054", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026036449"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.23992", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027540320"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0096094", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028572162"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/annonc/mdv604", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031779656"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2011.23", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036174851", 
          "https://doi.org/10.1038/ejhg.2011.23"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrneph.2013.58", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036582696", 
          "https://doi.org/10.1038/nrneph.2013.58"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(11)60756-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036777140"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1681/asn.2015010074", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037260564"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1681/asn.2015010074", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037260564"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1124/jpet.115.226969", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038665604"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.febslet.2013.03.012", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039138085"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.94.14.7388", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039224461"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrg.2015.3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039700013", 
          "https://doi.org/10.1038/nrg.2015.3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/labinvest.2010.98", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040670164", 
          "https://doi.org/10.1038/labinvest.2010.98"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejmra1410052", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041497716"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s12014-016-9109-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042130738", 
          "https://doi.org/10.1186/s12014-016-9109-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nsmb.1720", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042345508", 
          "https://doi.org/10.1038/nsmb.1720"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0162467", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044280428"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1471-2407-14-176", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045551156", 
          "https://doi.org/10.1186/1471-2407-14-176"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature11362", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046613614", 
          "https://doi.org/10.1038/nature11362"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.18632/oncotarget.2365", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047454366"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/btm091", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048513445"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddl132", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048518618"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s002040000173", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052849984", 
          "https://doi.org/10.1007/s002040000173"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejmoa062800", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052919106"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/labinvest.labinvest201098", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1056444837", 
          "https://doi.org/10.1038/labinvest.labinvest201098"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1088583", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062448475"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1173110", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062460089"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1173110", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062460089"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1172/jci33355", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1063417057"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.18637/jss.v018.i02", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1068672275"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.4161/cc.26808", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1072297420"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.7326/m15-1496", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1073742797"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074670452", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.18632/oncotarget.14969", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1083419242"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2018-12", 
    "datePublishedReg": "2018-12-01", 
    "description": "Urine contains extracellular RNA (exRNA) markers of urogenital cancers. However, the capacity of genetic material in urine to identify systemic diseases is unknown. Here we describe exRNA splice products in human urine as a source of biomarkers for the two most common forms of muscular dystrophies, myotonic dystrophy (DM) and Duchenne muscular dystrophy (DMD). Using a training set, RT-PCR, droplet digital PCR, and principal component regression, we identify ten transcripts that are spliced differently in urine exRNA from patients with DM type 1 (DM1) as compared to unaffected or disease controls, form a composite biomarker, and develop a predictive model that is 100% accurate in our independent validation set. Urine also contains mutation-specific DMD mRNAs that confirm exon-skipping activity of the antisense oligonucleotide drug eteplirsen. Our results establish that urine mRNA splice variants can be used to monitor systemic diseases with minimal or no clinical effect on the urinary tract.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/s41467-018-06206-0", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2435659", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1043282", 
        "issn": [
          "2041-1723"
        ], 
        "name": "Nature Communications", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "9"
      }
    ], 
    "name": "Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies", 
    "pagination": "3906", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "03c8b38046167f69fdc3a3a7e065868b455d6c4a0eb354d4943deadba4244e3b"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30254196"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101528555"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/s41467-018-06206-0"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1107107975"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/s41467-018-06206-0", 
      "https://app.dimensions.ai/details/publication/pub.1107107975"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T17:37", 
    "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_8672_00000544.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/s41467-018-06206-0"
  }
]
 

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/s41467-018-06206-0'

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/s41467-018-06206-0'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41467-018-06206-0'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41467-018-06206-0'


 

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

301 TRIPLES      21 PREDICATES      79 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/s41467-018-06206-0 schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author N4219ae63e99942c08304216700d5480e
4 schema:citation sg:pub.10.1007/s002040000173
5 sg:pub.10.1038/ejhg.2011.23
6 sg:pub.10.1038/labinvest.2010.98
7 sg:pub.10.1038/labinvest.labinvest201098
8 sg:pub.10.1038/nature11362
9 sg:pub.10.1038/nbt0308-303
10 sg:pub.10.1038/ncb1800
11 sg:pub.10.1038/ng704
12 sg:pub.10.1038/nrg.2015.3
13 sg:pub.10.1038/nrneph.2013.58
14 sg:pub.10.1038/nsmb.1720
15 sg:pub.10.1038/sj.bjc.6605058
16 sg:pub.10.1038/srep39094
17 sg:pub.10.1186/1471-2407-12-22
18 sg:pub.10.1186/1471-2407-14-176
19 sg:pub.10.1186/s12014-016-9109-x
20 https://app.dimensions.ai/details/publication/pub.1074670452
21 https://doi.org/10.1002/ana.23992
22 https://doi.org/10.1002/stem.1424
23 https://doi.org/10.1016/j.cell.2016.01.043
24 https://doi.org/10.1016/j.febslet.2013.03.012
25 https://doi.org/10.1016/j.jmoldx.2015.07.008
26 https://doi.org/10.1016/s0140-6736(11)60756-3
27 https://doi.org/10.1038/mtna.2013.28
28 https://doi.org/10.1056/nejmoa062800
29 https://doi.org/10.1056/nejmra1410052
30 https://doi.org/10.1073/pnas.94.14.7388
31 https://doi.org/10.1089/nat.2016.0657
32 https://doi.org/10.1093/annonc/mdv604
33 https://doi.org/10.1093/bioinformatics/btm091
34 https://doi.org/10.1093/hmg/ddl132
35 https://doi.org/10.1093/nar/gks596
36 https://doi.org/10.1093/nar/gni054
37 https://doi.org/10.1124/jpet.115.226969
38 https://doi.org/10.1126/science.1062125
39 https://doi.org/10.1126/science.1088583
40 https://doi.org/10.1126/science.1173110
41 https://doi.org/10.1126/science.289.5485.1769
42 https://doi.org/10.1172/jci33355
43 https://doi.org/10.1371/journal.pgen.1006316
44 https://doi.org/10.1371/journal.pone.0096094
45 https://doi.org/10.1371/journal.pone.0154507
46 https://doi.org/10.1371/journal.pone.0162467
47 https://doi.org/10.1681/asn.2015010074
48 https://doi.org/10.18632/oncotarget.14969
49 https://doi.org/10.18632/oncotarget.2365
50 https://doi.org/10.18632/oncotarget.9587
51 https://doi.org/10.18637/jss.v018.i02
52 https://doi.org/10.4161/cc.26808
53 https://doi.org/10.7326/m15-1496
54 schema:datePublished 2018-12
55 schema:datePublishedReg 2018-12-01
56 schema:description Urine contains extracellular RNA (exRNA) markers of urogenital cancers. However, the capacity of genetic material in urine to identify systemic diseases is unknown. Here we describe exRNA splice products in human urine as a source of biomarkers for the two most common forms of muscular dystrophies, myotonic dystrophy (DM) and Duchenne muscular dystrophy (DMD). Using a training set, RT-PCR, droplet digital PCR, and principal component regression, we identify ten transcripts that are spliced differently in urine exRNA from patients with DM type 1 (DM1) as compared to unaffected or disease controls, form a composite biomarker, and develop a predictive model that is 100% accurate in our independent validation set. Urine also contains mutation-specific DMD mRNAs that confirm exon-skipping activity of the antisense oligonucleotide drug eteplirsen. Our results establish that urine mRNA splice variants can be used to monitor systemic diseases with minimal or no clinical effect on the urinary tract.
57 schema:genre research_article
58 schema:inLanguage en
59 schema:isAccessibleForFree true
60 schema:isPartOf N462777a867ad4e5289788194815e0f90
61 Nec59f45b3164482b989931ac8460f152
62 sg:journal.1043282
63 schema:name Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies
64 schema:pagination 3906
65 schema:productId N2ab9ba3145624c1eafe24b5cdc0acdf5
66 N87716d6801244c6896d7ab3f5f94e4d5
67 N9e6b2c9686574f6f8d1bc7162f7a3a76
68 Nad058f899a1d4f4f97109110a2ec4dbe
69 Nc9cb6fb01c354cddb31111c34b47bd2e
70 schema:sameAs https://app.dimensions.ai/details/publication/pub.1107107975
71 https://doi.org/10.1038/s41467-018-06206-0
72 schema:sdDatePublished 2019-04-10T17:37
73 schema:sdLicense https://scigraph.springernature.com/explorer/license/
74 schema:sdPublisher Ne248692d1ced4eca8471f7d5a5db1e45
75 schema:url https://www.nature.com/articles/s41467-018-06206-0
76 sgo:license sg:explorer/license/
77 sgo:sdDataset articles
78 rdf:type schema:ScholarlyArticle
79 N1b304408543447359d03c6beb5b39341 rdf:first sg:person.01076001360.08
80 rdf:rest Nb412a6e7ce88419989df1ffd65af086c
81 N2ab9ba3145624c1eafe24b5cdc0acdf5 schema:name nlm_unique_id
82 schema:value 101528555
83 rdf:type schema:PropertyValue
84 N4219ae63e99942c08304216700d5480e rdf:first sg:person.0773701463.29
85 rdf:rest Nefc919bc6b934988aac2327222fbabd1
86 N462777a867ad4e5289788194815e0f90 schema:volumeNumber 9
87 rdf:type schema:PublicationVolume
88 N5bc1763eecbd4da5ad40a928f803ac19 rdf:first sg:person.0601130370.16
89 rdf:rest rdf:nil
90 N87716d6801244c6896d7ab3f5f94e4d5 schema:name readcube_id
91 schema:value 03c8b38046167f69fdc3a3a7e065868b455d6c4a0eb354d4943deadba4244e3b
92 rdf:type schema:PropertyValue
93 N8d4a94ea3b2b46b28694b9a84369ae3d rdf:first sg:person.01307535417.85
94 rdf:rest Ndf113af144164a65bc7f29b94a392a3d
95 N9840be650a9e4df093c94ec885c5ad77 rdf:first sg:person.01106056436.19
96 rdf:rest N8d4a94ea3b2b46b28694b9a84369ae3d
97 N9e6b2c9686574f6f8d1bc7162f7a3a76 schema:name doi
98 schema:value 10.1038/s41467-018-06206-0
99 rdf:type schema:PropertyValue
100 Nad058f899a1d4f4f97109110a2ec4dbe schema:name dimensions_id
101 schema:value pub.1107107975
102 rdf:type schema:PropertyValue
103 Nb412a6e7ce88419989df1ffd65af086c rdf:first sg:person.07663446464.62
104 rdf:rest N9840be650a9e4df093c94ec885c5ad77
105 Nb426326adca64e5a920e1e9bab4a3993 rdf:first sg:person.01366451521.05
106 rdf:rest N1b304408543447359d03c6beb5b39341
107 Nc9cb6fb01c354cddb31111c34b47bd2e schema:name pubmed_id
108 schema:value 30254196
109 rdf:type schema:PropertyValue
110 Ndf113af144164a65bc7f29b94a392a3d rdf:first sg:person.01226222634.49
111 rdf:rest N5bc1763eecbd4da5ad40a928f803ac19
112 Ne248692d1ced4eca8471f7d5a5db1e45 schema:name Springer Nature - SN SciGraph project
113 rdf:type schema:Organization
114 Nec59f45b3164482b989931ac8460f152 schema:issueNumber 1
115 rdf:type schema:PublicationIssue
116 Nefc919bc6b934988aac2327222fbabd1 rdf:first sg:person.013640267124.42
117 rdf:rest Nb426326adca64e5a920e1e9bab4a3993
118 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
119 schema:name Biological Sciences
120 rdf:type schema:DefinedTerm
121 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
122 schema:name Genetics
123 rdf:type schema:DefinedTerm
124 sg:grant.2435659 http://pending.schema.org/fundedItem sg:pub.10.1038/s41467-018-06206-0
125 rdf:type schema:MonetaryGrant
126 sg:journal.1043282 schema:issn 2041-1723
127 schema:name Nature Communications
128 rdf:type schema:Periodical
129 sg:person.01076001360.08 schema:affiliation https://www.grid.ac/institutes/grid.38142.3c
130 schema:familyName Das
131 schema:givenName Sudeshna
132 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01076001360.08
133 rdf:type schema:Person
134 sg:person.01106056436.19 schema:affiliation https://www.grid.ac/institutes/grid.2515.3
135 schema:familyName Darras
136 schema:givenName Basil
137 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01106056436.19
138 rdf:type schema:Person
139 sg:person.01226222634.49 schema:affiliation https://www.grid.ac/institutes/grid.32224.35
140 schema:familyName Breakefield
141 schema:givenName Xandra O.
142 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01226222634.49
143 rdf:type schema:Person
144 sg:person.01307535417.85 schema:affiliation https://www.grid.ac/institutes/grid.38142.3c
145 schema:familyName Clark
146 schema:givenName Tim
147 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01307535417.85
148 rdf:type schema:Person
149 sg:person.013640267124.42 schema:affiliation https://www.grid.ac/institutes/grid.38142.3c
150 schema:familyName Hu
151 schema:givenName Ningyan
152 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013640267124.42
153 rdf:type schema:Person
154 sg:person.01366451521.05 schema:affiliation https://www.grid.ac/institutes/grid.38142.3c
155 schema:familyName Balaj
156 schema:givenName Leonora
157 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01366451521.05
158 rdf:type schema:Person
159 sg:person.0601130370.16 schema:affiliation https://www.grid.ac/institutes/grid.38142.3c
160 schema:familyName Wheeler
161 schema:givenName Thurman M.
162 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0601130370.16
163 rdf:type schema:Person
164 sg:person.07663446464.62 schema:affiliation https://www.grid.ac/institutes/grid.2515.3
165 schema:familyName Georghiou
166 schema:givenName Sofia
167 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07663446464.62
168 rdf:type schema:Person
169 sg:person.0773701463.29 schema:affiliation https://www.grid.ac/institutes/grid.38142.3c
170 schema:familyName Antoury
171 schema:givenName Layal
172 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773701463.29
173 rdf:type schema:Person
174 sg:pub.10.1007/s002040000173 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052849984
175 https://doi.org/10.1007/s002040000173
176 rdf:type schema:CreativeWork
177 sg:pub.10.1038/ejhg.2011.23 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036174851
178 https://doi.org/10.1038/ejhg.2011.23
179 rdf:type schema:CreativeWork
180 sg:pub.10.1038/labinvest.2010.98 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040670164
181 https://doi.org/10.1038/labinvest.2010.98
182 rdf:type schema:CreativeWork
183 sg:pub.10.1038/labinvest.labinvest201098 schema:sameAs https://app.dimensions.ai/details/publication/pub.1056444837
184 https://doi.org/10.1038/labinvest.labinvest201098
185 rdf:type schema:CreativeWork
186 sg:pub.10.1038/nature11362 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046613614
187 https://doi.org/10.1038/nature11362
188 rdf:type schema:CreativeWork
189 sg:pub.10.1038/nbt0308-303 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025364910
190 https://doi.org/10.1038/nbt0308-303
191 rdf:type schema:CreativeWork
192 sg:pub.10.1038/ncb1800 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002499007
193 https://doi.org/10.1038/ncb1800
194 rdf:type schema:CreativeWork
195 sg:pub.10.1038/ng704 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000422948
196 https://doi.org/10.1038/ng704
197 rdf:type schema:CreativeWork
198 sg:pub.10.1038/nrg.2015.3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039700013
199 https://doi.org/10.1038/nrg.2015.3
200 rdf:type schema:CreativeWork
201 sg:pub.10.1038/nrneph.2013.58 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036582696
202 https://doi.org/10.1038/nrneph.2013.58
203 rdf:type schema:CreativeWork
204 sg:pub.10.1038/nsmb.1720 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042345508
205 https://doi.org/10.1038/nsmb.1720
206 rdf:type schema:CreativeWork
207 sg:pub.10.1038/sj.bjc.6605058 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004915171
208 https://doi.org/10.1038/sj.bjc.6605058
209 rdf:type schema:CreativeWork
210 sg:pub.10.1038/srep39094 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021612610
211 https://doi.org/10.1038/srep39094
212 rdf:type schema:CreativeWork
213 sg:pub.10.1186/1471-2407-12-22 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016708038
214 https://doi.org/10.1186/1471-2407-12-22
215 rdf:type schema:CreativeWork
216 sg:pub.10.1186/1471-2407-14-176 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045551156
217 https://doi.org/10.1186/1471-2407-14-176
218 rdf:type schema:CreativeWork
219 sg:pub.10.1186/s12014-016-9109-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1042130738
220 https://doi.org/10.1186/s12014-016-9109-x
221 rdf:type schema:CreativeWork
222 https://app.dimensions.ai/details/publication/pub.1074670452 schema:CreativeWork
223 https://doi.org/10.1002/ana.23992 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027540320
224 rdf:type schema:CreativeWork
225 https://doi.org/10.1002/stem.1424 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005430424
226 rdf:type schema:CreativeWork
227 https://doi.org/10.1016/j.cell.2016.01.043 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003136107
228 rdf:type schema:CreativeWork
229 https://doi.org/10.1016/j.febslet.2013.03.012 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039138085
230 rdf:type schema:CreativeWork
231 https://doi.org/10.1016/j.jmoldx.2015.07.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022438391
232 rdf:type schema:CreativeWork
233 https://doi.org/10.1016/s0140-6736(11)60756-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036777140
234 rdf:type schema:CreativeWork
235 https://doi.org/10.1038/mtna.2013.28 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018673889
236 rdf:type schema:CreativeWork
237 https://doi.org/10.1056/nejmoa062800 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052919106
238 rdf:type schema:CreativeWork
239 https://doi.org/10.1056/nejmra1410052 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041497716
240 rdf:type schema:CreativeWork
241 https://doi.org/10.1073/pnas.94.14.7388 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039224461
242 rdf:type schema:CreativeWork
243 https://doi.org/10.1089/nat.2016.0657 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021448721
244 rdf:type schema:CreativeWork
245 https://doi.org/10.1093/annonc/mdv604 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031779656
246 rdf:type schema:CreativeWork
247 https://doi.org/10.1093/bioinformatics/btm091 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048513445
248 rdf:type schema:CreativeWork
249 https://doi.org/10.1093/hmg/ddl132 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048518618
250 rdf:type schema:CreativeWork
251 https://doi.org/10.1093/nar/gks596 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014785724
252 rdf:type schema:CreativeWork
253 https://doi.org/10.1093/nar/gni054 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026036449
254 rdf:type schema:CreativeWork
255 https://doi.org/10.1124/jpet.115.226969 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038665604
256 rdf:type schema:CreativeWork
257 https://doi.org/10.1126/science.1062125 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018879853
258 rdf:type schema:CreativeWork
259 https://doi.org/10.1126/science.1088583 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062448475
260 rdf:type schema:CreativeWork
261 https://doi.org/10.1126/science.1173110 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062460089
262 rdf:type schema:CreativeWork
263 https://doi.org/10.1126/science.289.5485.1769 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019476451
264 rdf:type schema:CreativeWork
265 https://doi.org/10.1172/jci33355 schema:sameAs https://app.dimensions.ai/details/publication/pub.1063417057
266 rdf:type schema:CreativeWork
267 https://doi.org/10.1371/journal.pgen.1006316 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016299535
268 rdf:type schema:CreativeWork
269 https://doi.org/10.1371/journal.pone.0096094 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028572162
270 rdf:type schema:CreativeWork
271 https://doi.org/10.1371/journal.pone.0154507 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012181135
272 rdf:type schema:CreativeWork
273 https://doi.org/10.1371/journal.pone.0162467 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044280428
274 rdf:type schema:CreativeWork
275 https://doi.org/10.1681/asn.2015010074 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037260564
276 rdf:type schema:CreativeWork
277 https://doi.org/10.18632/oncotarget.14969 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083419242
278 rdf:type schema:CreativeWork
279 https://doi.org/10.18632/oncotarget.2365 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047454366
280 rdf:type schema:CreativeWork
281 https://doi.org/10.18632/oncotarget.9587 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017040834
282 rdf:type schema:CreativeWork
283 https://doi.org/10.18637/jss.v018.i02 schema:sameAs https://app.dimensions.ai/details/publication/pub.1068672275
284 rdf:type schema:CreativeWork
285 https://doi.org/10.4161/cc.26808 schema:sameAs https://app.dimensions.ai/details/publication/pub.1072297420
286 rdf:type schema:CreativeWork
287 https://doi.org/10.7326/m15-1496 schema:sameAs https://app.dimensions.ai/details/publication/pub.1073742797
288 rdf:type schema:CreativeWork
289 https://www.grid.ac/institutes/grid.2515.3 schema:alternateName Boston Children's Hospital
290 schema:name Department of Neurology, Boston Children’s Hospital, Boston, MA, USA
291 Harvard Medical School, Boston, MA, USA
292 rdf:type schema:Organization
293 https://www.grid.ac/institutes/grid.32224.35 schema:alternateName Massachusetts General Hospital
294 schema:name Department of Neurology, Massachusetts General Hospital, Boston, MA, USA
295 Department of Radiology, Massachusetts General Hospital, Boston, MA, USA
296 Harvard Medical School, Boston, MA, USA
297 rdf:type schema:Organization
298 https://www.grid.ac/institutes/grid.38142.3c schema:alternateName Harvard University
299 schema:name Department of Neurology, Massachusetts General Hospital, Boston, MA, USA
300 Harvard Medical School, Boston, MA, USA
301 rdf:type schema:Organization
 




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


...