Identification of a homozygous JAK3 V674A mutation caused by acquired uniparental disomy in a relapsed early T-cell precursor ALL patient View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-04

AUTHORS

Sachiko Kawashima-Goto, Toshihiko Imamura, Masafumi Seki, Motohiro Kato, Kenichi Yoshida, Atsuya Sugimoto, Daisuke Kaneda, Atsushi Fujiki, Mitsuru Miyachi, Takuya Nakatani, Shinya Osone, Hiroyuki Ishida, Tomohiko Taki, Junko Takita, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Seishi Ogawa, Hajime Hosoi

ABSTRACT

Investigation of genetic alterations associated with relapse in acute lymphoblastic leukemia (ALL) may help to identify druggable targets for specific therapies. Early T-cell precursor ALL (ETP-ALL) is a subtype of T-ALL with poor prognosis. Although the genetic landscape of ETP-ALL has been determined, genetic alterations related to the relapse of ETP-ALL have not been fully investigated. Here, we report the first patient with relapsed pediatric ETP-ALL to exhibit a homozygous JAK3 activating mutation, V674A, caused by acquired uniparental disomy (UPD). Single nucleotide polymorphism array analysis revealed acquired UPD (aUPD) at the 19p13.3-p12 locus only in leukemic cells at relapse. Sanger sequence of the JAK3 gene, which was located at 19p13.1 and frequently mutated in ETP-ALL, was performed in paired leukemic samples to determine homozygous JAK3 V674A mutation only in relapsed leukemic cells. In contrast, leukemic cells at initial diagnosis harbored hemizygous JAK3 V674A mutation. Further, whole-exome sequencing revealed mutations in 18 genes only in relapsed samples, although none of these was recurrent in T-ALL. These findings suggest that aUPD at 19p13.1 is partly associated with relapse in this patient. Pharmacological inhibition of JAK3 may be therapeutic in such cases. More... »

PAGES

411-416

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s12185-014-1711-y

DOI

http://dx.doi.org/10.1007/s12185-014-1711-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1036065222

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25430085


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"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adolescent", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Base Sequence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Homozygote", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Janus Kinase 3", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Point Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Precursor T-Cell Lymphoblastic Leukemia-Lymphoma", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Uniparental Disomy", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Kyoto Prefectural University of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.272458.e", 
          "name": [
            "Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kajii-cho Hirokoji, Kamigyo-ku, 602-8566, Kyoto, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kawashima-Goto", 
        "givenName": "Sachiko", 
        "id": "sg:person.01213526310.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01213526310.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kyoto Prefectural University of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.272458.e", 
          "name": [
            "Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kajii-cho Hirokoji, Kamigyo-ku, 602-8566, Kyoto, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Imamura", 
        "givenName": "Toshihiko", 
        "id": "sg:person.01261210177.04", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01261210177.04"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Tokyo", 
          "id": "https://www.grid.ac/institutes/grid.26999.3d", 
          "name": [
            "Department of Pediatrics, The University of Tokyo, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Seki", 
        "givenName": "Masafumi", 
        "id": "sg:person.0672420076.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0672420076.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Tokyo", 
          "id": "https://www.grid.ac/institutes/grid.26999.3d", 
          "name": [
            "Department of Pediatrics, The University of Tokyo, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kato", 
        "givenName": "Motohiro", 
        "id": "sg:person.010171724332.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010171724332.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kyoto University", 
          "id": "https://www.grid.ac/institutes/grid.258799.8", 
          "name": [
            "Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yoshida", 
        "givenName": "Kenichi", 
        "id": "sg:person.013055324062.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013055324062.39"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kyoto Prefectural University of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.272458.e", 
          "name": [
            "Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kajii-cho Hirokoji, Kamigyo-ku, 602-8566, Kyoto, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sugimoto", 
        "givenName": "Atsuya", 
        "id": "sg:person.0772275556.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0772275556.40"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kyoto Prefectural University of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.272458.e", 
          "name": [
            "Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kajii-cho Hirokoji, Kamigyo-ku, 602-8566, Kyoto, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kaneda", 
        "givenName": "Daisuke", 
        "id": "sg:person.01040410756.17", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01040410756.17"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Pediatrics, National Hospital Organization Maizuru Medical Center, Maizuru, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fujiki", 
        "givenName": "Atsushi", 
        "id": "sg:person.01324033123.30", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324033123.30"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kyoto Prefectural University of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.272458.e", 
          "name": [
            "Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kajii-cho Hirokoji, Kamigyo-ku, 602-8566, Kyoto, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Miyachi", 
        "givenName": "Mitsuru", 
        "id": "sg:person.0672264411.67", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0672264411.67"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Matsushita Memorial Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416591.e", 
          "name": [
            "Department of Pediatrics, National Hospital Organization Maizuru Medical Center, Maizuru, Japan", 
            "Department of Pediatrics, Matsushita Memorial Hospital, Moriguchi, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nakatani", 
        "givenName": "Takuya", 
        "id": "sg:person.01112260022.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112260022.21"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kyoto Prefectural University of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.272458.e", 
          "name": [
            "Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kajii-cho Hirokoji, Kamigyo-ku, 602-8566, Kyoto, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Osone", 
        "givenName": "Shinya", 
        "id": "sg:person.01047254250.63", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01047254250.63"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Matsushita Memorial Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416591.e", 
          "name": [
            "Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kajii-cho Hirokoji, Kamigyo-ku, 602-8566, Kyoto, Japan", 
            "Department of Pediatrics, Matsushita Memorial Hospital, Moriguchi, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ishida", 
        "givenName": "Hiroyuki", 
        "id": "sg:person.0741461241.35", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0741461241.35"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kyoto Prefectural University of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.272458.e", 
          "name": [
            "Department of Molecular Diagnostics and Therapeutics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Taki", 
        "givenName": "Tomohiko", 
        "id": "sg:person.01324577064.61", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324577064.61"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Tokyo", 
          "id": "https://www.grid.ac/institutes/grid.26999.3d", 
          "name": [
            "Department of Pediatrics, The University of Tokyo, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Takita", 
        "givenName": "Junko", 
        "id": "sg:person.0747556301.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747556301.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Tokyo", 
          "id": "https://www.grid.ac/institutes/grid.26999.3d", 
          "name": [
            "Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shiraishi", 
        "givenName": "Yuichi", 
        "id": "sg:person.01015664064.91", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01015664064.91"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Tokyo", 
          "id": "https://www.grid.ac/institutes/grid.26999.3d", 
          "name": [
            "Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Chiba", 
        "givenName": "Kenichi", 
        "id": "sg:person.01246341064.50", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01246341064.50"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Tokyo", 
          "id": "https://www.grid.ac/institutes/grid.26999.3d", 
          "name": [
            "Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tanaka", 
        "givenName": "Hiroko", 
        "id": "sg:person.016066062624.57", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016066062624.57"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Tokyo", 
          "id": "https://www.grid.ac/institutes/grid.26999.3d", 
          "name": [
            "Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan", 
            "Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Miyano", 
        "givenName": "Satoru", 
        "id": "sg:person.0701353106.90", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701353106.90"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kyoto University", 
          "id": "https://www.grid.ac/institutes/grid.258799.8", 
          "name": [
            "Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ogawa", 
        "givenName": "Seishi", 
        "id": "sg:person.014513351602.44", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014513351602.44"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kyoto Prefectural University of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.272458.e", 
          "name": [
            "Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kajii-cho Hirokoji, Kamigyo-ku, 602-8566, Kyoto, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hosoi", 
        "givenName": "Hajime", 
        "id": "sg:person.0676125511.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0676125511.32"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/nature10725", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006487337", 
          "https://doi.org/10.1038/nature10725"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1182/blood-2008-01-132431", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013219660"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/pbc.22217", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014189549"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/pbc.22217", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014189549"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.2759", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018641167", 
          "https://doi.org/10.1038/ng.2759"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.leukres.2006.05.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019733828"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0038463", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021232507"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1470-2045(08)70314-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022665870"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng2025", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025795238", 
          "https://doi.org/10.1038/ng2025"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng2025", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025795238", 
          "https://doi.org/10.1038/ng2025"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/377065a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034156413", 
          "https://doi.org/10.1038/377065a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/370153a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036067090", 
          "https://doi.org/10.1038/370153a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/gcc.22141", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042995068"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2015-04", 
    "datePublishedReg": "2015-04-01", 
    "description": "Investigation of genetic alterations associated with relapse in acute lymphoblastic leukemia (ALL) may help to identify druggable targets for specific therapies. Early T-cell precursor ALL (ETP-ALL) is a subtype of T-ALL with poor prognosis. Although the genetic landscape of ETP-ALL has been determined, genetic alterations related to the relapse of ETP-ALL have not been fully investigated. Here, we report the first patient with relapsed pediatric ETP-ALL to exhibit a homozygous JAK3 activating mutation, V674A, caused by acquired uniparental disomy (UPD). Single nucleotide polymorphism array analysis revealed acquired UPD (aUPD) at the 19p13.3-p12 locus only in leukemic cells at relapse. Sanger sequence of the JAK3 gene, which was located at 19p13.1 and frequently mutated in ETP-ALL, was performed in paired leukemic samples to determine homozygous JAK3 V674A mutation only in relapsed leukemic cells. In contrast, leukemic cells at initial diagnosis harbored hemizygous JAK3 V674A mutation. Further, whole-exome sequencing revealed mutations in 18 genes only in relapsed samples, although none of these was recurrent in T-ALL. These findings suggest that aUPD at 19p13.1 is partly associated with relapse in this patient. Pharmacological inhibition of JAK3 may be therapeutic in such cases. ", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s12185-014-1711-y", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.6147489", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.6138376", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1076985", 
        "issn": [
          "0925-5710", 
          "1865-3774"
        ], 
        "name": "International Journal of Hematology", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "101"
      }
    ], 
    "name": "Identification of a homozygous JAK3 V674A mutation caused by acquired uniparental disomy in a relapsed early T-cell precursor ALL patient", 
    "pagination": "411-416", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "abccfcbdda4987fa89bf57be9194d3854d5c95f4b95532c8cc4023bfbd4c20ed"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "25430085"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9111627"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s12185-014-1711-y"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1036065222"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s12185-014-1711-y", 
      "https://app.dimensions.ai/details/publication/pub.1036065222"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T16:45", 
    "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_8669_00000523.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1007%2Fs12185-014-1711-y"
  }
]
 

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.10.1007/s12185-014-1711-y'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s12185-014-1711-y'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s12185-014-1711-y'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s12185-014-1711-y'


 

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

296 TRIPLES      21 PREDICATES      49 URIs      30 LITERALS      18 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s12185-014-1711-y schema:about N44e219fd289b404dad3516c78f01cf84
2 N92c9d1e9f5b145a086811fb6054b4445
3 N959721e291c24168850e8e118315645c
4 N99103ec0a23340c9aa0ab4b768d932ac
5 Nb4abddc55a4a401982797e0f69d0d745
6 Ncd94162c93ed4296842197bcd6a198bf
7 Nf0252198cb15427ba54b006b09edee4b
8 Nf6af2aad69914bb48dffd32831e48021
9 Nfb2811d51bb2402fba9b2766965f4af6
10 anzsrc-for:06
11 anzsrc-for:0604
12 schema:author Ne4a9294d4ccd458990ab2b5553912f92
13 schema:citation sg:pub.10.1038/370153a0
14 sg:pub.10.1038/377065a0
15 sg:pub.10.1038/nature10725
16 sg:pub.10.1038/ng.2759
17 sg:pub.10.1038/ng2025
18 https://doi.org/10.1002/gcc.22141
19 https://doi.org/10.1002/pbc.22217
20 https://doi.org/10.1016/j.leukres.2006.05.006
21 https://doi.org/10.1016/s1470-2045(08)70314-0
22 https://doi.org/10.1182/blood-2008-01-132431
23 https://doi.org/10.1371/journal.pone.0038463
24 schema:datePublished 2015-04
25 schema:datePublishedReg 2015-04-01
26 schema:description Investigation of genetic alterations associated with relapse in acute lymphoblastic leukemia (ALL) may help to identify druggable targets for specific therapies. Early T-cell precursor ALL (ETP-ALL) is a subtype of T-ALL with poor prognosis. Although the genetic landscape of ETP-ALL has been determined, genetic alterations related to the relapse of ETP-ALL have not been fully investigated. Here, we report the first patient with relapsed pediatric ETP-ALL to exhibit a homozygous JAK3 activating mutation, V674A, caused by acquired uniparental disomy (UPD). Single nucleotide polymorphism array analysis revealed acquired UPD (aUPD) at the 19p13.3-p12 locus only in leukemic cells at relapse. Sanger sequence of the JAK3 gene, which was located at 19p13.1 and frequently mutated in ETP-ALL, was performed in paired leukemic samples to determine homozygous JAK3 V674A mutation only in relapsed leukemic cells. In contrast, leukemic cells at initial diagnosis harbored hemizygous JAK3 V674A mutation. Further, whole-exome sequencing revealed mutations in 18 genes only in relapsed samples, although none of these was recurrent in T-ALL. These findings suggest that aUPD at 19p13.1 is partly associated with relapse in this patient. Pharmacological inhibition of JAK3 may be therapeutic in such cases.
27 schema:genre research_article
28 schema:inLanguage en
29 schema:isAccessibleForFree false
30 schema:isPartOf N304ef87122a3405ca12a9039b85facde
31 N3242f2b61d184cd2892ae65891024556
32 sg:journal.1076985
33 schema:name Identification of a homozygous JAK3 V674A mutation caused by acquired uniparental disomy in a relapsed early T-cell precursor ALL patient
34 schema:pagination 411-416
35 schema:productId N3796fd5aaa6c43a0a9e07872b2b7b13b
36 N42e23325b6f547ce9274f581455ab8c9
37 N823ab89b159b47339b1e4a619fc1fd64
38 N9a2189cc6d064219b1c714050b94be67
39 Nc2f56696a18d434295d6832c08e3bb8e
40 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036065222
41 https://doi.org/10.1007/s12185-014-1711-y
42 schema:sdDatePublished 2019-04-10T16:45
43 schema:sdLicense https://scigraph.springernature.com/explorer/license/
44 schema:sdPublisher N50f3dca758fe4ea09badbb7dceed2eb3
45 schema:url http://link.springer.com/10.1007%2Fs12185-014-1711-y
46 sgo:license sg:explorer/license/
47 sgo:sdDataset articles
48 rdf:type schema:ScholarlyArticle
49 N304ef87122a3405ca12a9039b85facde schema:issueNumber 4
50 rdf:type schema:PublicationIssue
51 N3070b7eb52c043e2be709cf7793bda0b rdf:first sg:person.0772275556.40
52 rdf:rest Naf1d74e25dd14ac7a20eff6c0ce2452c
53 N3242f2b61d184cd2892ae65891024556 schema:volumeNumber 101
54 rdf:type schema:PublicationVolume
55 N3796fd5aaa6c43a0a9e07872b2b7b13b schema:name pubmed_id
56 schema:value 25430085
57 rdf:type schema:PropertyValue
58 N42e23325b6f547ce9274f581455ab8c9 schema:name dimensions_id
59 schema:value pub.1036065222
60 rdf:type schema:PropertyValue
61 N44e219fd289b404dad3516c78f01cf84 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
62 schema:name Male
63 rdf:type schema:DefinedTerm
64 N47ee103d48c442cb9b6d4c9a1677a675 schema:name Department of Pediatrics, National Hospital Organization Maizuru Medical Center, Maizuru, Japan
65 rdf:type schema:Organization
66 N50f3dca758fe4ea09badbb7dceed2eb3 schema:name Springer Nature - SN SciGraph project
67 rdf:type schema:Organization
68 N5906e1c1fee44985af6270468abde557 rdf:first sg:person.0672420076.15
69 rdf:rest Ndc0022203f084d4a9b43f035f4b93379
70 N5f2066d056ae4c63a3946528eb5a2a9a rdf:first sg:person.01261210177.04
71 rdf:rest N5906e1c1fee44985af6270468abde557
72 N6a22c7e4feb84bf28fc48fd40ac7ceb3 rdf:first sg:person.01324577064.61
73 rdf:rest Ncd87b5977fb7441ab5ba2c68d0d4b903
74 N6dbdc90165a3487cadd1d8ab1a5bc052 rdf:first sg:person.0701353106.90
75 rdf:rest N94044baa5dcd4ef5b72e8a62d2c0ba0f
76 N71034401a7ae42cfbb0d0ffeb17af4cd rdf:first sg:person.01015664064.91
77 rdf:rest Nea7be953c5d64a5ca06a36f916d898bf
78 N7f16778b9c44441b81fee486139f9eb5 rdf:first sg:person.016066062624.57
79 rdf:rest N6dbdc90165a3487cadd1d8ab1a5bc052
80 N823ab89b159b47339b1e4a619fc1fd64 schema:name doi
81 schema:value 10.1007/s12185-014-1711-y
82 rdf:type schema:PropertyValue
83 N8d5b90e7af544e32a93d24b1c68f46fd rdf:first sg:person.0676125511.32
84 rdf:rest rdf:nil
85 N92c9d1e9f5b145a086811fb6054b4445 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
86 schema:name Humans
87 rdf:type schema:DefinedTerm
88 N94044baa5dcd4ef5b72e8a62d2c0ba0f rdf:first sg:person.014513351602.44
89 rdf:rest N8d5b90e7af544e32a93d24b1c68f46fd
90 N959721e291c24168850e8e118315645c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
91 schema:name Point Mutation
92 rdf:type schema:DefinedTerm
93 N99103ec0a23340c9aa0ab4b768d932ac schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
94 schema:name Uniparental Disomy
95 rdf:type schema:DefinedTerm
96 N993cc9349c7a4b189ccecd2171394d14 rdf:first sg:person.01324033123.30
97 rdf:rest Ndb07e98f22df4f8999687a2aa06deb78
98 N9a2189cc6d064219b1c714050b94be67 schema:name readcube_id
99 schema:value abccfcbdda4987fa89bf57be9194d3854d5c95f4b95532c8cc4023bfbd4c20ed
100 rdf:type schema:PropertyValue
101 Naf1d74e25dd14ac7a20eff6c0ce2452c rdf:first sg:person.01040410756.17
102 rdf:rest N993cc9349c7a4b189ccecd2171394d14
103 Nb4abddc55a4a401982797e0f69d0d745 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
104 schema:name Base Sequence
105 rdf:type schema:DefinedTerm
106 Nb59b4b78afbc47a38949d2d83e618ecb rdf:first sg:person.0741461241.35
107 rdf:rest N6a22c7e4feb84bf28fc48fd40ac7ceb3
108 Nc2f56696a18d434295d6832c08e3bb8e schema:name nlm_unique_id
109 schema:value 9111627
110 rdf:type schema:PropertyValue
111 Ncd87b5977fb7441ab5ba2c68d0d4b903 rdf:first sg:person.0747556301.06
112 rdf:rest N71034401a7ae42cfbb0d0ffeb17af4cd
113 Ncd94162c93ed4296842197bcd6a198bf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
114 schema:name Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
115 rdf:type schema:DefinedTerm
116 Ndb07e98f22df4f8999687a2aa06deb78 rdf:first sg:person.0672264411.67
117 rdf:rest Ndf927abe308b465ea865c4aab37c3d24
118 Ndc0022203f084d4a9b43f035f4b93379 rdf:first sg:person.010171724332.52
119 rdf:rest Ndcafc006c85f4d718d1445b626a1d0e3
120 Ndcafc006c85f4d718d1445b626a1d0e3 rdf:first sg:person.013055324062.39
121 rdf:rest N3070b7eb52c043e2be709cf7793bda0b
122 Ndf927abe308b465ea865c4aab37c3d24 rdf:first sg:person.01112260022.21
123 rdf:rest Nf060b86de56240a7b2ec220ad8543540
124 Ne4a9294d4ccd458990ab2b5553912f92 rdf:first sg:person.01213526310.06
125 rdf:rest N5f2066d056ae4c63a3946528eb5a2a9a
126 Nea7be953c5d64a5ca06a36f916d898bf rdf:first sg:person.01246341064.50
127 rdf:rest N7f16778b9c44441b81fee486139f9eb5
128 Nf0252198cb15427ba54b006b09edee4b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
129 schema:name Adolescent
130 rdf:type schema:DefinedTerm
131 Nf060b86de56240a7b2ec220ad8543540 rdf:first sg:person.01047254250.63
132 rdf:rest Nb59b4b78afbc47a38949d2d83e618ecb
133 Nf6af2aad69914bb48dffd32831e48021 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
134 schema:name Homozygote
135 rdf:type schema:DefinedTerm
136 Nfb2811d51bb2402fba9b2766965f4af6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
137 schema:name Janus Kinase 3
138 rdf:type schema:DefinedTerm
139 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
140 schema:name Biological Sciences
141 rdf:type schema:DefinedTerm
142 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
143 schema:name Genetics
144 rdf:type schema:DefinedTerm
145 sg:grant.6138376 http://pending.schema.org/fundedItem sg:pub.10.1007/s12185-014-1711-y
146 rdf:type schema:MonetaryGrant
147 sg:grant.6147489 http://pending.schema.org/fundedItem sg:pub.10.1007/s12185-014-1711-y
148 rdf:type schema:MonetaryGrant
149 sg:journal.1076985 schema:issn 0925-5710
150 1865-3774
151 schema:name International Journal of Hematology
152 rdf:type schema:Periodical
153 sg:person.01015664064.91 schema:affiliation https://www.grid.ac/institutes/grid.26999.3d
154 schema:familyName Shiraishi
155 schema:givenName Yuichi
156 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01015664064.91
157 rdf:type schema:Person
158 sg:person.010171724332.52 schema:affiliation https://www.grid.ac/institutes/grid.26999.3d
159 schema:familyName Kato
160 schema:givenName Motohiro
161 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010171724332.52
162 rdf:type schema:Person
163 sg:person.01040410756.17 schema:affiliation https://www.grid.ac/institutes/grid.272458.e
164 schema:familyName Kaneda
165 schema:givenName Daisuke
166 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01040410756.17
167 rdf:type schema:Person
168 sg:person.01047254250.63 schema:affiliation https://www.grid.ac/institutes/grid.272458.e
169 schema:familyName Osone
170 schema:givenName Shinya
171 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01047254250.63
172 rdf:type schema:Person
173 sg:person.01112260022.21 schema:affiliation https://www.grid.ac/institutes/grid.416591.e
174 schema:familyName Nakatani
175 schema:givenName Takuya
176 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112260022.21
177 rdf:type schema:Person
178 sg:person.01213526310.06 schema:affiliation https://www.grid.ac/institutes/grid.272458.e
179 schema:familyName Kawashima-Goto
180 schema:givenName Sachiko
181 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01213526310.06
182 rdf:type schema:Person
183 sg:person.01246341064.50 schema:affiliation https://www.grid.ac/institutes/grid.26999.3d
184 schema:familyName Chiba
185 schema:givenName Kenichi
186 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01246341064.50
187 rdf:type schema:Person
188 sg:person.01261210177.04 schema:affiliation https://www.grid.ac/institutes/grid.272458.e
189 schema:familyName Imamura
190 schema:givenName Toshihiko
191 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01261210177.04
192 rdf:type schema:Person
193 sg:person.013055324062.39 schema:affiliation https://www.grid.ac/institutes/grid.258799.8
194 schema:familyName Yoshida
195 schema:givenName Kenichi
196 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013055324062.39
197 rdf:type schema:Person
198 sg:person.01324033123.30 schema:affiliation N47ee103d48c442cb9b6d4c9a1677a675
199 schema:familyName Fujiki
200 schema:givenName Atsushi
201 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324033123.30
202 rdf:type schema:Person
203 sg:person.01324577064.61 schema:affiliation https://www.grid.ac/institutes/grid.272458.e
204 schema:familyName Taki
205 schema:givenName Tomohiko
206 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324577064.61
207 rdf:type schema:Person
208 sg:person.014513351602.44 schema:affiliation https://www.grid.ac/institutes/grid.258799.8
209 schema:familyName Ogawa
210 schema:givenName Seishi
211 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014513351602.44
212 rdf:type schema:Person
213 sg:person.016066062624.57 schema:affiliation https://www.grid.ac/institutes/grid.26999.3d
214 schema:familyName Tanaka
215 schema:givenName Hiroko
216 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016066062624.57
217 rdf:type schema:Person
218 sg:person.0672264411.67 schema:affiliation https://www.grid.ac/institutes/grid.272458.e
219 schema:familyName Miyachi
220 schema:givenName Mitsuru
221 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0672264411.67
222 rdf:type schema:Person
223 sg:person.0672420076.15 schema:affiliation https://www.grid.ac/institutes/grid.26999.3d
224 schema:familyName Seki
225 schema:givenName Masafumi
226 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0672420076.15
227 rdf:type schema:Person
228 sg:person.0676125511.32 schema:affiliation https://www.grid.ac/institutes/grid.272458.e
229 schema:familyName Hosoi
230 schema:givenName Hajime
231 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0676125511.32
232 rdf:type schema:Person
233 sg:person.0701353106.90 schema:affiliation https://www.grid.ac/institutes/grid.26999.3d
234 schema:familyName Miyano
235 schema:givenName Satoru
236 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701353106.90
237 rdf:type schema:Person
238 sg:person.0741461241.35 schema:affiliation https://www.grid.ac/institutes/grid.416591.e
239 schema:familyName Ishida
240 schema:givenName Hiroyuki
241 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0741461241.35
242 rdf:type schema:Person
243 sg:person.0747556301.06 schema:affiliation https://www.grid.ac/institutes/grid.26999.3d
244 schema:familyName Takita
245 schema:givenName Junko
246 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747556301.06
247 rdf:type schema:Person
248 sg:person.0772275556.40 schema:affiliation https://www.grid.ac/institutes/grid.272458.e
249 schema:familyName Sugimoto
250 schema:givenName Atsuya
251 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0772275556.40
252 rdf:type schema:Person
253 sg:pub.10.1038/370153a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036067090
254 https://doi.org/10.1038/370153a0
255 rdf:type schema:CreativeWork
256 sg:pub.10.1038/377065a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034156413
257 https://doi.org/10.1038/377065a0
258 rdf:type schema:CreativeWork
259 sg:pub.10.1038/nature10725 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006487337
260 https://doi.org/10.1038/nature10725
261 rdf:type schema:CreativeWork
262 sg:pub.10.1038/ng.2759 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018641167
263 https://doi.org/10.1038/ng.2759
264 rdf:type schema:CreativeWork
265 sg:pub.10.1038/ng2025 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025795238
266 https://doi.org/10.1038/ng2025
267 rdf:type schema:CreativeWork
268 https://doi.org/10.1002/gcc.22141 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042995068
269 rdf:type schema:CreativeWork
270 https://doi.org/10.1002/pbc.22217 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014189549
271 rdf:type schema:CreativeWork
272 https://doi.org/10.1016/j.leukres.2006.05.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019733828
273 rdf:type schema:CreativeWork
274 https://doi.org/10.1016/s1470-2045(08)70314-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022665870
275 rdf:type schema:CreativeWork
276 https://doi.org/10.1182/blood-2008-01-132431 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013219660
277 rdf:type schema:CreativeWork
278 https://doi.org/10.1371/journal.pone.0038463 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021232507
279 rdf:type schema:CreativeWork
280 https://www.grid.ac/institutes/grid.258799.8 schema:alternateName Kyoto University
281 schema:name Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan
282 rdf:type schema:Organization
283 https://www.grid.ac/institutes/grid.26999.3d schema:alternateName University of Tokyo
284 schema:name Department of Pediatrics, The University of Tokyo, Tokyo, Japan
285 Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan
286 Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan
287 rdf:type schema:Organization
288 https://www.grid.ac/institutes/grid.272458.e schema:alternateName Kyoto Prefectural University of Medicine
289 schema:name Department of Molecular Diagnostics and Therapeutics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan
290 Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kajii-cho Hirokoji, Kamigyo-ku, 602-8566, Kyoto, Japan
291 rdf:type schema:Organization
292 https://www.grid.ac/institutes/grid.416591.e schema:alternateName Matsushita Memorial Hospital
293 schema:name Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kajii-cho Hirokoji, Kamigyo-ku, 602-8566, Kyoto, Japan
294 Department of Pediatrics, Matsushita Memorial Hospital, Moriguchi, Japan
295 Department of Pediatrics, National Hospital Organization Maizuru Medical Center, Maizuru, Japan
296 rdf:type schema:Organization
 




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


...