ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-12

AUTHORS

Michele Menotta, Sara Biagiotti, Chiara Spapperi, Sara Orazi, Luigia Rossi, Luciana Chessa, Vincenzo Leuzzi, Daniela D’Agnano, Annarosa Soresina, Roberto Micheli, Mauro Magnani

ABSTRACT

BACKGROUND: Ataxia Telangiectasia (AT) is a rare incurable genetic disease, caused by biallelic mutations in the Ataxia Telangiectasia-Mutated (ATM) gene. Treatment with glucocorticoid analogues has been shown to improve the neurological symptoms that characterize this syndrome. Nevertheless, the molecular mechanism underlying the glucocorticoid action in AT patients is not yet understood. Recently, we have demonstrated that Dexamethasone treatment may partly restore ATM activity in AT lymphoblastoid cells by a new ATM transcript, namely ATMdexa1. RESULTS: In the present study, the new ATMdexa1 transcript was also identified in vivo, specifically in the PMBCs of AT patients treated with intra-erythrocyte Dexamethasone (EryDex). In these patients it was also possible to isolate new "ATMdexa1 variants" originating from canonical and non-canonical splicing, each containing the coding sequence for the ATM kinase domain. The expression of the ATMdexa1 transcript family was directly related to treatment and higher expression levels of the transcript in patients' blood correlated with a positive response to Dexamethasone therapy. Neither untreated AT patients nor untreated healthy volunteers possessed detectable levels of the transcripts. ATMdexa1 transcript expression was found to be elevated 8 days after the drug infusion, while it decreased 21 days after treatment. CONCLUSIONS: For the first time, the expression of ATM splicing variants, similar to those previously observed in vitro, has been found in the PBMCs of patients treated with EryDex. These findings show a correlation between the expression of ATMdexa1 transcripts and the clinical response to low dose dexamethasone administration. More... »

PAGES

126

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13023-017-0669-2

DOI

http://dx.doi.org/10.1186/s13023-017-0669-2

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1090383477

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28679388


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/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adolescent", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Ataxia Telangiectasia", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Ataxia Telangiectasia Mutated Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Biomarkers", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Dexamethasone", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gene Expression Regulation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Glucocorticoids", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Leukocytes, Mononuclear", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Protein Isoforms", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Urbino", 
          "id": "https://www.grid.ac/institutes/grid.12711.34", 
          "name": [
            "Department of Biomolecular Sciences, University of Urbino \u201cCarlo Bo\u201d, 61029, Urbino, PU, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Menotta", 
        "givenName": "Michele", 
        "id": "sg:person.01125765675.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01125765675.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Urbino", 
          "id": "https://www.grid.ac/institutes/grid.12711.34", 
          "name": [
            "Department of Biomolecular Sciences, University of Urbino \u201cCarlo Bo\u201d, 61029, Urbino, PU, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Biagiotti", 
        "givenName": "Sara", 
        "id": "sg:person.01104077372.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104077372.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Urbino", 
          "id": "https://www.grid.ac/institutes/grid.12711.34", 
          "name": [
            "Department of Biomolecular Sciences, University of Urbino \u201cCarlo Bo\u201d, 61029, Urbino, PU, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Spapperi", 
        "givenName": "Chiara", 
        "id": "sg:person.0667116577.56", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0667116577.56"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Urbino", 
          "id": "https://www.grid.ac/institutes/grid.12711.34", 
          "name": [
            "Department of Biomolecular Sciences, University of Urbino \u201cCarlo Bo\u201d, 61029, Urbino, PU, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Orazi", 
        "givenName": "Sara", 
        "id": "sg:person.012366056221.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012366056221.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Urbino", 
          "id": "https://www.grid.ac/institutes/grid.12711.34", 
          "name": [
            "Department of Biomolecular Sciences, University of Urbino \u201cCarlo Bo\u201d, 61029, Urbino, PU, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rossi", 
        "givenName": "Luigia", 
        "id": "sg:person.012733041772.37", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012733041772.37"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Sapienza University of Rome", 
          "id": "https://www.grid.ac/institutes/grid.7841.a", 
          "name": [
            "Department of Clinical and Molecular Medicine, University \u201cLa Sapienza\u201d, 00198, Rome, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Chessa", 
        "givenName": "Luciana", 
        "id": "sg:person.01210613030.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01210613030.05"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Sapienza University of Rome", 
          "id": "https://www.grid.ac/institutes/grid.7841.a", 
          "name": [
            "Department of Pediatrics and Child Neurology and Psychiatry, University \u201cLa Sapienza\u201d, Rome, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Leuzzi", 
        "givenName": "Vincenzo", 
        "id": "sg:person.0612121222.23", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0612121222.23"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Sapienza University of Rome", 
          "id": "https://www.grid.ac/institutes/grid.7841.a", 
          "name": [
            "Department of Pediatrics and Child Neurology and Psychiatry, University \u201cLa Sapienza\u201d, Rome, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "D\u2019Agnano", 
        "givenName": "Daniela", 
        "id": "sg:person.0774463022.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0774463022.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Brescia", 
          "id": "https://www.grid.ac/institutes/grid.7637.5", 
          "name": [
            "Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute of Molecular Medicine \u201cA. Nocivelli\u201d, Unit of Child Neurology and Psychiatry Spedali Civili and University of Brescia, Brescia, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Soresina", 
        "givenName": "Annarosa", 
        "id": "sg:person.01021536037.33", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01021536037.33"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Brescia", 
          "id": "https://www.grid.ac/institutes/grid.7637.5", 
          "name": [
            "Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute of Molecular Medicine \u201cA. Nocivelli\u201d, Unit of Child Neurology and Psychiatry Spedali Civili and University of Brescia, Brescia, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Micheli", 
        "givenName": "Roberto", 
        "id": "sg:person.01053453435.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053453435.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Urbino", 
          "id": "https://www.grid.ac/institutes/grid.12711.34", 
          "name": [
            "Department of Biomolecular Sciences, University of Urbino \u201cCarlo Bo\u201d, 61029, Urbino, PU, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Magnani", 
        "givenName": "Mauro", 
        "id": "sg:person.0752252542.98", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0752252542.98"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1111/febs.13901", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001601870"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.bcmd.2004.04.004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002331703"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1468-1331.2010.03203.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002417286"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/abio.1999.4085", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004955320"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1468-1331.2009.02600.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007007344"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1468-1331.2009.02600.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007007344"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/ene.12024", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008112318"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1158/1078-0432.ccr-08-2078", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008338020"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/mds.25126", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009326820"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1042/ba20000087", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009504998"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1155/2013/264314", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012485874"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.m112.344473", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012734720"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1673-8527(09)60028-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012744659"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1468-1331.2009.02597.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013049616"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1468-1331.2009.02597.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013049616"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s11010-014-2013-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014279229", 
          "https://doi.org/10.1007/s11010-014-2013-7"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/25.9.1678", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016987793"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/nxi.0000000000000098", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018265729"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/nxi.0000000000000098", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018265729"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gks834", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022445233"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1261/rna.050419.115", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024823006"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/npp.2011.331", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025526313", 
          "https://doi.org/10.1038/npp.2011.331"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.psyneuen.2014.02.013", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026680310"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1468-1331.2008.02060.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033349556"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1111/j.1572-0241.2008.02103.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035274192", 
          "https://doi.org/10.1111/j.1572-0241.2008.02103.x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.clim.2016.11.015", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035917919"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1750-1172-9-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036998157", 
          "https://doi.org/10.1186/1750-1172-9-5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s12013-016-0775-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040204206", 
          "https://doi.org/10.1007/s12013-016-0775-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s12013-016-0775-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040204206", 
          "https://doi.org/10.1007/s12013-016-0775-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/mib.0b013e3182874065", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041331985"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/mib.0b013e3182874065", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041331985"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/archneur.63.10.1479", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044242012"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-510x(96)00231-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044787153"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/jxb/erm231", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049018097"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/14712598.2017.1271872", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058394762"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/4.11.2025", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059645232"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074800491", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2017-12", 
    "datePublishedReg": "2017-12-01", 
    "description": "BACKGROUND: Ataxia Telangiectasia (AT) is a rare incurable genetic disease, caused by biallelic mutations in the Ataxia Telangiectasia-Mutated (ATM) gene. Treatment with glucocorticoid analogues has been shown to improve the neurological symptoms that characterize this syndrome. Nevertheless, the molecular mechanism underlying the glucocorticoid action in AT patients is not yet understood. Recently, we have demonstrated that Dexamethasone treatment may partly restore ATM activity in AT lymphoblastoid cells by a new ATM transcript, namely ATMdexa1.\nRESULTS: In the present study, the new ATMdexa1 transcript was also identified in vivo, specifically in the PMBCs of AT patients treated with intra-erythrocyte Dexamethasone (EryDex). In these patients it was also possible to isolate new \"ATMdexa1 variants\" originating from canonical and non-canonical splicing, each containing the coding sequence for the ATM kinase domain. The expression of the ATMdexa1 transcript family was directly related to treatment and higher expression levels of the transcript in patients' blood correlated with a positive response to Dexamethasone therapy. Neither untreated AT patients nor untreated healthy volunteers possessed detectable levels of the transcripts. ATMdexa1 transcript expression was found to be elevated 8 days after the drug infusion, while it decreased 21\u00a0days after treatment.\nCONCLUSIONS: For the first time, the expression of ATM splicing variants, similar to those previously observed in vitro, has been found in the PBMCs of patients treated with EryDex. These findings show a correlation between the expression of ATMdexa1 transcripts and the clinical response to low dose dexamethasone administration.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/s13023-017-0669-2", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.5051127", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1036535", 
        "issn": [
          "1750-1172"
        ], 
        "name": "Orphanet Journal of Rare Diseases", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "12"
      }
    ], 
    "name": "ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T", 
    "pagination": "126", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "216f50b91020f5faee1b4f4386a2bbe2a086e672e389e675d120c9f4b0ce50c6"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "28679388"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101266602"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s13023-017-0669-2"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1090383477"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s13023-017-0669-2", 
      "https://app.dimensions.ai/details/publication/pub.1090383477"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T09:36", 
    "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/v90/0000000346_0000000346/records_99821_00000004.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1186%2Fs13023-017-0669-2"
  }
]
 

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/s13023-017-0669-2'

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/s13023-017-0669-2'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13023-017-0669-2'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13023-017-0669-2'


 

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

299 TRIPLES      21 PREDICATES      74 URIs      34 LITERALS      22 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s13023-017-0669-2 schema:about N1f35a1c445ce43e991a6e76cc4329c41
2 N25a481d48fa74a5dbae269145c2144c0
3 N27dd3e39012d4296b5dc1bec3ce71a55
4 N35f1019ee3824632ba92fb9ad0a6a8bd
5 N447243d8b2024207b13165341cd8ea99
6 N5328717a4a514d48acce396d5a7ab59e
7 N6e52a3bb7c78417785bd6206bfc6ef62
8 N95a4259b1bb245479d19fd7830191360
9 Na1d8355da4bc4d3d98ea71d6a814e23b
10 Na4bc5ea052e44826b7349e5121b12104
11 Nabffd6d569c948b38d81ee6a8c77c7bf
12 Neab3023c460e4529992e3c276e3a4b6b
13 Nfd441328d4e74f4192af089f48892263
14 anzsrc-for:11
15 anzsrc-for:1103
16 schema:author Ndade0ccd5c0643e8a7eb6c738a13620f
17 schema:citation sg:pub.10.1007/s11010-014-2013-7
18 sg:pub.10.1007/s12013-016-0775-0
19 sg:pub.10.1038/npp.2011.331
20 sg:pub.10.1111/j.1572-0241.2008.02103.x
21 sg:pub.10.1186/1750-1172-9-5
22 https://app.dimensions.ai/details/publication/pub.1074800491
23 https://doi.org/10.1001/archneur.63.10.1479
24 https://doi.org/10.1002/mds.25126
25 https://doi.org/10.1006/abio.1999.4085
26 https://doi.org/10.1016/j.bcmd.2004.04.004
27 https://doi.org/10.1016/j.clim.2016.11.015
28 https://doi.org/10.1016/j.psyneuen.2014.02.013
29 https://doi.org/10.1016/s0022-510x(96)00231-6
30 https://doi.org/10.1016/s1673-8527(09)60028-x
31 https://doi.org/10.1042/ba20000087
32 https://doi.org/10.1074/jbc.m112.344473
33 https://doi.org/10.1080/14712598.2017.1271872
34 https://doi.org/10.1093/hmg/4.11.2025
35 https://doi.org/10.1093/jxb/erm231
36 https://doi.org/10.1093/nar/25.9.1678
37 https://doi.org/10.1093/nar/gks834
38 https://doi.org/10.1097/mib.0b013e3182874065
39 https://doi.org/10.1111/ene.12024
40 https://doi.org/10.1111/febs.13901
41 https://doi.org/10.1111/j.1468-1331.2008.02060.x
42 https://doi.org/10.1111/j.1468-1331.2009.02597.x
43 https://doi.org/10.1111/j.1468-1331.2009.02600.x
44 https://doi.org/10.1111/j.1468-1331.2010.03203.x
45 https://doi.org/10.1155/2013/264314
46 https://doi.org/10.1158/1078-0432.ccr-08-2078
47 https://doi.org/10.1212/nxi.0000000000000098
48 https://doi.org/10.1261/rna.050419.115
49 schema:datePublished 2017-12
50 schema:datePublishedReg 2017-12-01
51 schema:description BACKGROUND: Ataxia Telangiectasia (AT) is a rare incurable genetic disease, caused by biallelic mutations in the Ataxia Telangiectasia-Mutated (ATM) gene. Treatment with glucocorticoid analogues has been shown to improve the neurological symptoms that characterize this syndrome. Nevertheless, the molecular mechanism underlying the glucocorticoid action in AT patients is not yet understood. Recently, we have demonstrated that Dexamethasone treatment may partly restore ATM activity in AT lymphoblastoid cells by a new ATM transcript, namely ATMdexa1. RESULTS: In the present study, the new ATMdexa1 transcript was also identified in vivo, specifically in the PMBCs of AT patients treated with intra-erythrocyte Dexamethasone (EryDex). In these patients it was also possible to isolate new "ATMdexa1 variants" originating from canonical and non-canonical splicing, each containing the coding sequence for the ATM kinase domain. The expression of the ATMdexa1 transcript family was directly related to treatment and higher expression levels of the transcript in patients' blood correlated with a positive response to Dexamethasone therapy. Neither untreated AT patients nor untreated healthy volunteers possessed detectable levels of the transcripts. ATMdexa1 transcript expression was found to be elevated 8 days after the drug infusion, while it decreased 21 days after treatment. CONCLUSIONS: For the first time, the expression of ATM splicing variants, similar to those previously observed in vitro, has been found in the PBMCs of patients treated with EryDex. These findings show a correlation between the expression of ATMdexa1 transcripts and the clinical response to low dose dexamethasone administration.
52 schema:genre research_article
53 schema:inLanguage en
54 schema:isAccessibleForFree true
55 schema:isPartOf N9d7148332f9f4b408ac391e6a9d6fb4e
56 Nc59ca37316a74ea392fad376d6654cdf
57 sg:journal.1036535
58 schema:name ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T
59 schema:pagination 126
60 schema:productId N61716c51fd724502807d0d0b9b14386b
61 N80813de205454845bef6334fc5a5ee60
62 Na66eb7a8760b47cebb430124ad01c05d
63 Naa5db654a3d44378bc1e708805935ca4
64 Nd96eec9497664c58bcb7dbba3d9134a7
65 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090383477
66 https://doi.org/10.1186/s13023-017-0669-2
67 schema:sdDatePublished 2019-04-11T09:36
68 schema:sdLicense https://scigraph.springernature.com/explorer/license/
69 schema:sdPublisher Nd361ade747844885867d9e622b9f1732
70 schema:url https://link.springer.com/10.1186%2Fs13023-017-0669-2
71 sgo:license sg:explorer/license/
72 sgo:sdDataset articles
73 rdf:type schema:ScholarlyArticle
74 N1b1ea045280f4cd897948db28d590e83 rdf:first sg:person.0774463022.00
75 rdf:rest Naa58dad2908b493699e6d54b11800bc8
76 N1f35a1c445ce43e991a6e76cc4329c41 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
77 schema:name Biomarkers
78 rdf:type schema:DefinedTerm
79 N24935bd6564b4837b9e479faeeff7d4e rdf:first sg:person.0667116577.56
80 rdf:rest Ne40c4fdb26a34473860d4dfaf5b664a1
81 N25a481d48fa74a5dbae269145c2144c0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
82 schema:name Female
83 rdf:type schema:DefinedTerm
84 N27dd3e39012d4296b5dc1bec3ce71a55 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
85 schema:name Protein Isoforms
86 rdf:type schema:DefinedTerm
87 N35f1019ee3824632ba92fb9ad0a6a8bd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
88 schema:name Dexamethasone
89 rdf:type schema:DefinedTerm
90 N447243d8b2024207b13165341cd8ea99 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
91 schema:name Ataxia Telangiectasia Mutated Proteins
92 rdf:type schema:DefinedTerm
93 N5328717a4a514d48acce396d5a7ab59e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
94 schema:name Gene Expression Regulation
95 rdf:type schema:DefinedTerm
96 N61716c51fd724502807d0d0b9b14386b schema:name doi
97 schema:value 10.1186/s13023-017-0669-2
98 rdf:type schema:PropertyValue
99 N63e0644b67b84db0ab533446d3c500e3 rdf:first sg:person.01210613030.05
100 rdf:rest Nbdd939c005974f1b8ca4c3f3be5f8e5d
101 N6e52a3bb7c78417785bd6206bfc6ef62 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
102 schema:name Child
103 rdf:type schema:DefinedTerm
104 N80813de205454845bef6334fc5a5ee60 schema:name readcube_id
105 schema:value 216f50b91020f5faee1b4f4386a2bbe2a086e672e389e675d120c9f4b0ce50c6
106 rdf:type schema:PropertyValue
107 N95a4259b1bb245479d19fd7830191360 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
108 schema:name Leukocytes, Mononuclear
109 rdf:type schema:DefinedTerm
110 N9d36feb0f5dd451cb053f447e72df0d0 rdf:first sg:person.01053453435.12
111 rdf:rest Nef9f8f6080b544d99e6aea806b6f060e
112 N9d7148332f9f4b408ac391e6a9d6fb4e schema:volumeNumber 12
113 rdf:type schema:PublicationVolume
114 Na1d8355da4bc4d3d98ea71d6a814e23b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
115 schema:name Ataxia Telangiectasia
116 rdf:type schema:DefinedTerm
117 Na4bc5ea052e44826b7349e5121b12104 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
118 schema:name Humans
119 rdf:type schema:DefinedTerm
120 Na66eb7a8760b47cebb430124ad01c05d schema:name pubmed_id
121 schema:value 28679388
122 rdf:type schema:PropertyValue
123 Naa58dad2908b493699e6d54b11800bc8 rdf:first sg:person.01021536037.33
124 rdf:rest N9d36feb0f5dd451cb053f447e72df0d0
125 Naa5db654a3d44378bc1e708805935ca4 schema:name dimensions_id
126 schema:value pub.1090383477
127 rdf:type schema:PropertyValue
128 Nabffd6d569c948b38d81ee6a8c77c7bf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
129 schema:name Adolescent
130 rdf:type schema:DefinedTerm
131 Nbdd939c005974f1b8ca4c3f3be5f8e5d rdf:first sg:person.0612121222.23
132 rdf:rest N1b1ea045280f4cd897948db28d590e83
133 Nc59ca37316a74ea392fad376d6654cdf schema:issueNumber 1
134 rdf:type schema:PublicationIssue
135 Nd361ade747844885867d9e622b9f1732 schema:name Springer Nature - SN SciGraph project
136 rdf:type schema:Organization
137 Nd96eec9497664c58bcb7dbba3d9134a7 schema:name nlm_unique_id
138 schema:value 101266602
139 rdf:type schema:PropertyValue
140 Ndade0ccd5c0643e8a7eb6c738a13620f rdf:first sg:person.01125765675.00
141 rdf:rest Nf6189a39870444aa9737b28cf6765de6
142 Ne40c4fdb26a34473860d4dfaf5b664a1 rdf:first sg:person.012366056221.12
143 rdf:rest Nf814949d64a64cd185e2f060a5c3dc91
144 Neab3023c460e4529992e3c276e3a4b6b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
145 schema:name Male
146 rdf:type schema:DefinedTerm
147 Nef9f8f6080b544d99e6aea806b6f060e rdf:first sg:person.0752252542.98
148 rdf:rest rdf:nil
149 Nf6189a39870444aa9737b28cf6765de6 rdf:first sg:person.01104077372.38
150 rdf:rest N24935bd6564b4837b9e479faeeff7d4e
151 Nf814949d64a64cd185e2f060a5c3dc91 rdf:first sg:person.012733041772.37
152 rdf:rest N63e0644b67b84db0ab533446d3c500e3
153 Nfd441328d4e74f4192af089f48892263 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
154 schema:name Glucocorticoids
155 rdf:type schema:DefinedTerm
156 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
157 schema:name Medical and Health Sciences
158 rdf:type schema:DefinedTerm
159 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
160 schema:name Clinical Sciences
161 rdf:type schema:DefinedTerm
162 sg:grant.5051127 http://pending.schema.org/fundedItem sg:pub.10.1186/s13023-017-0669-2
163 rdf:type schema:MonetaryGrant
164 sg:journal.1036535 schema:issn 1750-1172
165 schema:name Orphanet Journal of Rare Diseases
166 rdf:type schema:Periodical
167 sg:person.01021536037.33 schema:affiliation https://www.grid.ac/institutes/grid.7637.5
168 schema:familyName Soresina
169 schema:givenName Annarosa
170 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01021536037.33
171 rdf:type schema:Person
172 sg:person.01053453435.12 schema:affiliation https://www.grid.ac/institutes/grid.7637.5
173 schema:familyName Micheli
174 schema:givenName Roberto
175 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053453435.12
176 rdf:type schema:Person
177 sg:person.01104077372.38 schema:affiliation https://www.grid.ac/institutes/grid.12711.34
178 schema:familyName Biagiotti
179 schema:givenName Sara
180 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104077372.38
181 rdf:type schema:Person
182 sg:person.01125765675.00 schema:affiliation https://www.grid.ac/institutes/grid.12711.34
183 schema:familyName Menotta
184 schema:givenName Michele
185 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01125765675.00
186 rdf:type schema:Person
187 sg:person.01210613030.05 schema:affiliation https://www.grid.ac/institutes/grid.7841.a
188 schema:familyName Chessa
189 schema:givenName Luciana
190 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01210613030.05
191 rdf:type schema:Person
192 sg:person.012366056221.12 schema:affiliation https://www.grid.ac/institutes/grid.12711.34
193 schema:familyName Orazi
194 schema:givenName Sara
195 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012366056221.12
196 rdf:type schema:Person
197 sg:person.012733041772.37 schema:affiliation https://www.grid.ac/institutes/grid.12711.34
198 schema:familyName Rossi
199 schema:givenName Luigia
200 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012733041772.37
201 rdf:type schema:Person
202 sg:person.0612121222.23 schema:affiliation https://www.grid.ac/institutes/grid.7841.a
203 schema:familyName Leuzzi
204 schema:givenName Vincenzo
205 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0612121222.23
206 rdf:type schema:Person
207 sg:person.0667116577.56 schema:affiliation https://www.grid.ac/institutes/grid.12711.34
208 schema:familyName Spapperi
209 schema:givenName Chiara
210 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0667116577.56
211 rdf:type schema:Person
212 sg:person.0752252542.98 schema:affiliation https://www.grid.ac/institutes/grid.12711.34
213 schema:familyName Magnani
214 schema:givenName Mauro
215 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0752252542.98
216 rdf:type schema:Person
217 sg:person.0774463022.00 schema:affiliation https://www.grid.ac/institutes/grid.7841.a
218 schema:familyName D’Agnano
219 schema:givenName Daniela
220 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0774463022.00
221 rdf:type schema:Person
222 sg:pub.10.1007/s11010-014-2013-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014279229
223 https://doi.org/10.1007/s11010-014-2013-7
224 rdf:type schema:CreativeWork
225 sg:pub.10.1007/s12013-016-0775-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040204206
226 https://doi.org/10.1007/s12013-016-0775-0
227 rdf:type schema:CreativeWork
228 sg:pub.10.1038/npp.2011.331 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025526313
229 https://doi.org/10.1038/npp.2011.331
230 rdf:type schema:CreativeWork
231 sg:pub.10.1111/j.1572-0241.2008.02103.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1035274192
232 https://doi.org/10.1111/j.1572-0241.2008.02103.x
233 rdf:type schema:CreativeWork
234 sg:pub.10.1186/1750-1172-9-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036998157
235 https://doi.org/10.1186/1750-1172-9-5
236 rdf:type schema:CreativeWork
237 https://app.dimensions.ai/details/publication/pub.1074800491 schema:CreativeWork
238 https://doi.org/10.1001/archneur.63.10.1479 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044242012
239 rdf:type schema:CreativeWork
240 https://doi.org/10.1002/mds.25126 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009326820
241 rdf:type schema:CreativeWork
242 https://doi.org/10.1006/abio.1999.4085 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004955320
243 rdf:type schema:CreativeWork
244 https://doi.org/10.1016/j.bcmd.2004.04.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002331703
245 rdf:type schema:CreativeWork
246 https://doi.org/10.1016/j.clim.2016.11.015 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035917919
247 rdf:type schema:CreativeWork
248 https://doi.org/10.1016/j.psyneuen.2014.02.013 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026680310
249 rdf:type schema:CreativeWork
250 https://doi.org/10.1016/s0022-510x(96)00231-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044787153
251 rdf:type schema:CreativeWork
252 https://doi.org/10.1016/s1673-8527(09)60028-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1012744659
253 rdf:type schema:CreativeWork
254 https://doi.org/10.1042/ba20000087 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009504998
255 rdf:type schema:CreativeWork
256 https://doi.org/10.1074/jbc.m112.344473 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012734720
257 rdf:type schema:CreativeWork
258 https://doi.org/10.1080/14712598.2017.1271872 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058394762
259 rdf:type schema:CreativeWork
260 https://doi.org/10.1093/hmg/4.11.2025 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059645232
261 rdf:type schema:CreativeWork
262 https://doi.org/10.1093/jxb/erm231 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049018097
263 rdf:type schema:CreativeWork
264 https://doi.org/10.1093/nar/25.9.1678 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016987793
265 rdf:type schema:CreativeWork
266 https://doi.org/10.1093/nar/gks834 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022445233
267 rdf:type schema:CreativeWork
268 https://doi.org/10.1097/mib.0b013e3182874065 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041331985
269 rdf:type schema:CreativeWork
270 https://doi.org/10.1111/ene.12024 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008112318
271 rdf:type schema:CreativeWork
272 https://doi.org/10.1111/febs.13901 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001601870
273 rdf:type schema:CreativeWork
274 https://doi.org/10.1111/j.1468-1331.2008.02060.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1033349556
275 rdf:type schema:CreativeWork
276 https://doi.org/10.1111/j.1468-1331.2009.02597.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1013049616
277 rdf:type schema:CreativeWork
278 https://doi.org/10.1111/j.1468-1331.2009.02600.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1007007344
279 rdf:type schema:CreativeWork
280 https://doi.org/10.1111/j.1468-1331.2010.03203.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1002417286
281 rdf:type schema:CreativeWork
282 https://doi.org/10.1155/2013/264314 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012485874
283 rdf:type schema:CreativeWork
284 https://doi.org/10.1158/1078-0432.ccr-08-2078 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008338020
285 rdf:type schema:CreativeWork
286 https://doi.org/10.1212/nxi.0000000000000098 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018265729
287 rdf:type schema:CreativeWork
288 https://doi.org/10.1261/rna.050419.115 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024823006
289 rdf:type schema:CreativeWork
290 https://www.grid.ac/institutes/grid.12711.34 schema:alternateName University of Urbino
291 schema:name Department of Biomolecular Sciences, University of Urbino “Carlo Bo”, 61029, Urbino, PU, Italy
292 rdf:type schema:Organization
293 https://www.grid.ac/institutes/grid.7637.5 schema:alternateName University of Brescia
294 schema:name Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute of Molecular Medicine “A. Nocivelli”, Unit of Child Neurology and Psychiatry Spedali Civili and University of Brescia, Brescia, Italy
295 rdf:type schema:Organization
296 https://www.grid.ac/institutes/grid.7841.a schema:alternateName Sapienza University of Rome
297 schema:name Department of Clinical and Molecular Medicine, University “La Sapienza”, 00198, Rome, Italy
298 Department of Pediatrics and Child Neurology and Psychiatry, University “La Sapienza”, Rome, Italy
299 rdf:type schema:Organization
 




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


...