Sarcoidosis is associated with a truncating splice site mutation in BTNL2 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2005-04

AUTHORS

Ruta Valentonyte, Jochen Hampe, Klaus Huse, Philip Rosenstiel, Mario Albrecht, Annette Stenzel, Marion Nagy, Karoline I Gaede, Andre Franke, Robert Haesler, Andreas Koch, Thomas Lengauer, Dirk Seegert, Norbert Reiling, Stefan Ehlers, Eberhard Schwinger, Matthias Platzer, Michael Krawczak, Joachim Müller-Quernheim, Manfred Schürmann, Stefan Schreiber

ABSTRACT

Sarcoidosis is a polygenic immune disorder with predominant manifestation in the lung. Genome-wide linkage analysis previously indicated that the extended major histocompatibility locus on chromosome 6p was linked to susceptibility to sarcoidosis. Here, we carried out a systematic three-stage SNP scan of 16.4 Mb on chromosome 6p21 in as many as 947 independent cases of familial and sporadic sarcoidosis and found that a 15-kb segment of the gene butyrophilin-like 2 (BTNL2) was associated with the disease. The primary disease-associated variant (rs2076530; P(TDT) = 3 x 10(-6), P(case-control) = 1.1 x 10(-8); replication P(TDT) = 0.0018, P(case-control) = 1.8 x 10(-6)) represents a risk factor that is independent of variation in HLA-DRB1. BTNL2 is a member of the immunoglobulin superfamily and has been implicated as a costimulatory molecule involved in T-cell activation on the basis of its homology to B7-1. The G --> A transition constituting rs2076530 leads to the use of a cryptic splice site located 4 bp upstream of the affected wild-type donor site. Transcripts of the risk-associated allele have a premature stop in the spliced mRNA. The resulting protein lacks the C-terminal IgC domain and transmembrane helix, thereby disrupting the membrane localization of the protein, as shown in experiments using green fluorescent protein and V5 fusion proteins. More... »

PAGES

357-364

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1519

DOI

http://dx.doi.org/10.1038/ng1519

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1030613718

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/15735647


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": "Bronchoalveolar Lavage", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Butyrophilins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Green Fluorescent Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "HLA-DR Antigens", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "HLA-DRB1 Chains", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "HeLa Cells", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Membrane Glycoproteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Monocytes", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mycobacterium tuberculosis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Single Nucleotide", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Protein Conformation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "RNA Splice Sites", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "RNA Splicing", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Recombinant Fusion Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Risk Factors", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sarcoidosis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Tumor Necrosis Factor-alpha", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "name": [
            "Institute for Clinical Molecular Biology, Christian-Albrechts-University Kiel, Universit\u00e4tsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Valentonyte", 
        "givenName": "Ruta", 
        "id": "sg:person.01166436727.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166436727.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Institute for Clinical Molecular Biology, Christian-Albrechts-University Kiel, Universit\u00e4tsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.", 
            "Kiel Center of the German National Genotyping Platform, Christian-Albrechts-University Kiel, Universit\u00e4tsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hampe", 
        "givenName": "Jochen", 
        "id": "sg:person.0770420375.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0770420375.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Fritz Lipmann Institute", 
          "id": "https://www.grid.ac/institutes/grid.418245.e", 
          "name": [
            "Institute for Molecular Biotechnology, Beutenbergstra\u00dfe 11, 07745 Jena, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Huse", 
        "givenName": "Klaus", 
        "id": "sg:person.0747726071.53", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747726071.53"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Institute for Clinical Molecular Biology, Christian-Albrechts-University Kiel, Universit\u00e4tsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rosenstiel", 
        "givenName": "Philip", 
        "id": "sg:person.01026521124.04", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026521124.04"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Max Planck Institute for Informatics", 
          "id": "https://www.grid.ac/institutes/grid.419528.3", 
          "name": [
            "Max-Planck-Institute for Informatics, Stuhlsatzenhausweg 85, 66123 Saarbr\u00fccken, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Albrecht", 
        "givenName": "Mario", 
        "id": "sg:person.0620663342.45", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0620663342.45"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Institute for Clinical Molecular Biology, Christian-Albrechts-University Kiel, Universit\u00e4tsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.", 
            "Kiel Center of the German National Genotyping Platform, Christian-Albrechts-University Kiel, Universit\u00e4tsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Stenzel", 
        "givenName": "Annette", 
        "id": "sg:person.01013226232.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01013226232.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Charit\u00e9", 
          "id": "https://www.grid.ac/institutes/grid.6363.0", 
          "name": [
            "Institute of Forensic Medicine, Charite University Hospital, Hannoversche Stra\u00dfe 6, 10115 Berlin, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nagy", 
        "givenName": "Marion", 
        "id": "sg:person.01041741727.17", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01041741727.17"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Freiburg", 
          "id": "https://www.grid.ac/institutes/grid.5963.9", 
          "name": [
            "Research Center Borstel, Parkallee 1-40, 23845 Borstel, Germany.", 
            "Department of Pneumology, University of Freiburg, Killian-Str.5, 79106 Freiburg, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gaede", 
        "givenName": "Karoline I", 
        "id": "sg:person.0626252643.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0626252643.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Kiel Center of the German National Genotyping Platform, Christian-Albrechts-University Kiel, Universit\u00e4tsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Franke", 
        "givenName": "Andre", 
        "id": "sg:person.01262760646.95", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01262760646.95"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Institute for Clinical Molecular Biology, Christian-Albrechts-University Kiel, Universit\u00e4tsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Haesler", 
        "givenName": "Robert", 
        "id": "sg:person.0602155540.95", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602155540.95"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Kiel Center of the German National Genotyping Platform, Christian-Albrechts-University Kiel, Universit\u00e4tsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Koch", 
        "givenName": "Andreas", 
        "id": "sg:person.01051006742.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051006742.51"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Max Planck Institute for Informatics", 
          "id": "https://www.grid.ac/institutes/grid.419528.3", 
          "name": [
            "Max-Planck-Institute for Informatics, Stuhlsatzenhausweg 85, 66123 Saarbr\u00fccken, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lengauer", 
        "givenName": "Thomas", 
        "id": "sg:person.01360543616.07", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01360543616.07"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Conaris", 
          "id": "https://www.grid.ac/institutes/grid.482435.c", 
          "name": [
            "Conaris Research Institute AG, Schauenburgerstr. 116, 24118 Kiel, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Seegert", 
        "givenName": "Dirk", 
        "id": "sg:person.01134440077.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01134440077.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Research Center Borstel - Leibniz-Center for Medicine and Biosciences", 
          "id": "https://www.grid.ac/institutes/grid.418187.3", 
          "name": [
            "Research Center Borstel, Parkallee 1-40, 23845 Borstel, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Reiling", 
        "givenName": "Norbert", 
        "id": "sg:person.01006146273.56", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01006146273.56"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Research Center Borstel - Leibniz-Center for Medicine and Biosciences", 
          "id": "https://www.grid.ac/institutes/grid.418187.3", 
          "name": [
            "Research Center Borstel, Parkallee 1-40, 23845 Borstel, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ehlers", 
        "givenName": "Stefan", 
        "id": "sg:person.0715477123.34", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0715477123.34"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of L\u00fcbeck", 
          "id": "https://www.grid.ac/institutes/grid.4562.5", 
          "name": [
            "Institute of Human Genetics, University of L\u00fcbeck; Ratzeburger Allee 160, 23538 L\u00fcbeck, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schwinger", 
        "givenName": "Eberhard", 
        "id": "sg:person.01330513146.92", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01330513146.92"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Fritz Lipmann Institute", 
          "id": "https://www.grid.ac/institutes/grid.418245.e", 
          "name": [
            "Institute for Molecular Biotechnology, Beutenbergstra\u00dfe 11, 07745 Jena, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Platzer", 
        "givenName": "Matthias", 
        "id": "sg:person.01314631471.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01314631471.28"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Institute of Medical Statistics and Informatics, Christian-Albrechts-University Kiel, Universit\u00e4tsklinikum Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Krawczak", 
        "givenName": "Michael", 
        "id": "sg:person.0654171775.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0654171775.32"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Freiburg", 
          "id": "https://www.grid.ac/institutes/grid.5963.9", 
          "name": [
            "Department of Pneumology, University of Freiburg, Killian-Str.5, 79106 Freiburg, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "M\u00fcller-Quernheim", 
        "givenName": "Joachim", 
        "id": "sg:person.0644320773.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0644320773.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of L\u00fcbeck", 
          "id": "https://www.grid.ac/institutes/grid.4562.5", 
          "name": [
            "Institute of Human Genetics, University of L\u00fcbeck; Ratzeburger Allee 160, 23538 L\u00fcbeck, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sch\u00fcrmann", 
        "givenName": "Manfred", 
        "id": "sg:person.01367421633.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01367421633.32"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Institute for Clinical Molecular Biology, Christian-Albrechts-University Kiel, Universit\u00e4tsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.", 
            "Kiel Center of the German National Genotyping Platform, Christian-Albrechts-University Kiel, Universit\u00e4tsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schreiber", 
        "givenName": "Stefan", 
        "id": "sg:person.01223143620.01", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01223143620.01"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1073/pnas.261567999", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000136784"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00451461", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000796427", 
          "https://doi.org/10.1007/bf00451461"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00451461", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000796427", 
          "https://doi.org/10.1007/bf00451461"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/17.7.654", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001119823"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1084/jem.183.6.2541", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002464229"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1074-7613(00)80158-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003151065"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1034/j.1399-3003.1999.14d02.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003943181"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature01621", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004357092", 
          "https://doi.org/10.1038/nature01621"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature01621", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004357092", 
          "https://doi.org/10.1038/nature01621"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nri727", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007286982", 
          "https://doi.org/10.1038/nri727"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nri727", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007286982", 
          "https://doi.org/10.1038/nri727"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s002510050633", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008572724", 
          "https://doi.org/10.1007/s002510050633"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1164/rccm.2112060", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014079548"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm199704243361706", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014565283"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1164/ajrccm.164.5.2007056", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015932413"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1165/ajrcmb.25.3.4261", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016561953"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1038/sj.embor.7400006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016710334"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.gene.6364001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018279945", 
          "https://doi.org/10.1038/sj.gene.6364001"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.gene.6364001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018279945", 
          "https://doi.org/10.1038/sj.gene.6364001"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.252771499", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020883565"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0014-5793(03)00161-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021953204"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1164/ajrccm.165.8.200110-0320", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022008165"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/oxfordjournals.molbev.a026065", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024674158"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1165/rcmb.4782", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026682897"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.95.19.11389", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027652455"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ni1010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028970446", 
          "https://doi.org/10.1038/ni1010"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ni1010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028970446", 
          "https://doi.org/10.1038/ni1010"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1053/gast.2003.50157", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029162797"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-003-1075-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031168431", 
          "https://doi.org/10.1007/s00439-003-1075-5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-003-1075-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031168431", 
          "https://doi.org/10.1007/s00439-003-1075-5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/geno.2000.6406", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031464928"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1074-7613(02)00362-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032987693"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/35069118", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035271375", 
          "https://doi.org/10.1038/35069118"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/35069118", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035271375", 
          "https://doi.org/10.1038/35069118"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00210743", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037661352", 
          "https://doi.org/10.1007/bf00210743"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00210743", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037661352", 
          "https://doi.org/10.1007/bf00210743"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1365-2796.2003.01074.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040374362"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1164/ajrccm.164.11.2106001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048731193"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1164/ajrccm.160.2.ats4-99", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049270626"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/35069112", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051894109", 
          "https://doi.org/10.1038/35069112"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/35069112", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051894109", 
          "https://doi.org/10.1038/35069112"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1074-7613(00)80333-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052033908"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/302566", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058610135"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/378097", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058671153"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/378097", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058671153"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074597393", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.4049/jimmunol.167.6.3339", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1074877099"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074998806", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.4049/jimmunol.171.8.4311", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1076576969"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.2144/04361dd01", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1076629358"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1080712235", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082894760", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2005-04", 
    "datePublishedReg": "2005-04-01", 
    "description": "Sarcoidosis is a polygenic immune disorder with predominant manifestation in the lung. Genome-wide linkage analysis previously indicated that the extended major histocompatibility locus on chromosome 6p was linked to susceptibility to sarcoidosis. Here, we carried out a systematic three-stage SNP scan of 16.4 Mb on chromosome 6p21 in as many as 947 independent cases of familial and sporadic sarcoidosis and found that a 15-kb segment of the gene butyrophilin-like 2 (BTNL2) was associated with the disease. The primary disease-associated variant (rs2076530; P(TDT) = 3 x 10(-6), P(case-control) = 1.1 x 10(-8); replication P(TDT) = 0.0018, P(case-control) = 1.8 x 10(-6)) represents a risk factor that is independent of variation in HLA-DRB1. BTNL2 is a member of the immunoglobulin superfamily and has been implicated as a costimulatory molecule involved in T-cell activation on the basis of its homology to B7-1. The G --> A transition constituting rs2076530 leads to the use of a cryptic splice site located 4 bp upstream of the affected wild-type donor site. Transcripts of the risk-associated allele have a premature stop in the spliced mRNA. The resulting protein lacks the C-terminal IgC domain and transmembrane helix, thereby disrupting the membrane localization of the protein, as shown in experiments using green fluorescent protein and V5 fusion proteins.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ng1519", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "37"
      }
    ], 
    "name": "Sarcoidosis is associated with a truncating splice site mutation in BTNL2", 
    "pagination": "357-364", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "91d7149f02edecfa2eba2d462f4a8e40cb497207727f2fae06f1744cfae9d24d"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "15735647"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng1519"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1030613718"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng1519", 
      "https://app.dimensions.ai/details/publication/pub.1030613718"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T12:22", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000362_0000000362/records_87088_00000001.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/ng1519"
  }
]
 

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/ng1519'

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/ng1519'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng1519'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng1519'


 

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

453 TRIPLES      21 PREDICATES      89 URIs      39 LITERALS      27 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng1519 schema:about N19307e1557d54f58a2bd6042f4ad8b11
2 N197631713f9943b0aab8a0924cdfc355
3 N1f183cbcf3dc4aaf9d17c35ce4be9bf5
4 N30e99169e8184da78da5c7661dc14c17
5 N353bbfdb490f4640bfd0efe0fe622e88
6 N3b6a0ff9f083469b90efdfeb5b1fcb5b
7 N4aa25714228d48f9a7b9de2c06e3d4b3
8 N4d035ae1e77540608d13a8e6edb9d4ce
9 N5114a97c2c1846b7b0ff149895ec9cf7
10 N54aa0b46604b4fddade279c6f71ab072
11 N5c62735b838849f0b207d9c869b32e4e
12 N5c72e7bca47d43f4bdf79712408f290f
13 N942bbcc281384ab9a6c4bdc0db5472ff
14 Na25e113f810d42c2a7e3a78308f09aa8
15 Nb1961847fbcf4e63b1a14193d53a81d5
16 Nbcb60f96e45d4c879d69753b194d64dc
17 Nbf902a0b7c11497ebd12e56fc8d60edf
18 Nc0a459d17437425b8a829390202d17ad
19 anzsrc-for:06
20 anzsrc-for:0604
21 schema:author N688aabb1a4ff43198402d3c39da34483
22 schema:citation sg:pub.10.1007/bf00210743
23 sg:pub.10.1007/bf00451461
24 sg:pub.10.1007/s002510050633
25 sg:pub.10.1007/s00439-003-1075-5
26 sg:pub.10.1038/35069112
27 sg:pub.10.1038/35069118
28 sg:pub.10.1038/nature01621
29 sg:pub.10.1038/ni1010
30 sg:pub.10.1038/nri727
31 sg:pub.10.1038/sj.gene.6364001
32 https://app.dimensions.ai/details/publication/pub.1074597393
33 https://app.dimensions.ai/details/publication/pub.1074998806
34 https://app.dimensions.ai/details/publication/pub.1080712235
35 https://app.dimensions.ai/details/publication/pub.1082894760
36 https://doi.org/10.1006/geno.2000.6406
37 https://doi.org/10.1016/s0014-5793(03)00161-3
38 https://doi.org/10.1016/s1074-7613(00)80158-2
39 https://doi.org/10.1016/s1074-7613(00)80333-7
40 https://doi.org/10.1016/s1074-7613(02)00362-x
41 https://doi.org/10.1034/j.1399-3003.1999.14d02.x
42 https://doi.org/10.1038/sj.embor.7400006
43 https://doi.org/10.1046/j.1365-2796.2003.01074.x
44 https://doi.org/10.1053/gast.2003.50157
45 https://doi.org/10.1056/nejm199704243361706
46 https://doi.org/10.1073/pnas.252771499
47 https://doi.org/10.1073/pnas.261567999
48 https://doi.org/10.1073/pnas.95.19.11389
49 https://doi.org/10.1084/jem.183.6.2541
50 https://doi.org/10.1086/302566
51 https://doi.org/10.1086/378097
52 https://doi.org/10.1093/bioinformatics/17.7.654
53 https://doi.org/10.1093/oxfordjournals.molbev.a026065
54 https://doi.org/10.1164/ajrccm.160.2.ats4-99
55 https://doi.org/10.1164/ajrccm.164.11.2106001
56 https://doi.org/10.1164/ajrccm.164.5.2007056
57 https://doi.org/10.1164/ajrccm.165.8.200110-0320
58 https://doi.org/10.1164/rccm.2112060
59 https://doi.org/10.1165/ajrcmb.25.3.4261
60 https://doi.org/10.1165/rcmb.4782
61 https://doi.org/10.2144/04361dd01
62 https://doi.org/10.4049/jimmunol.167.6.3339
63 https://doi.org/10.4049/jimmunol.171.8.4311
64 schema:datePublished 2005-04
65 schema:datePublishedReg 2005-04-01
66 schema:description Sarcoidosis is a polygenic immune disorder with predominant manifestation in the lung. Genome-wide linkage analysis previously indicated that the extended major histocompatibility locus on chromosome 6p was linked to susceptibility to sarcoidosis. Here, we carried out a systematic three-stage SNP scan of 16.4 Mb on chromosome 6p21 in as many as 947 independent cases of familial and sporadic sarcoidosis and found that a 15-kb segment of the gene butyrophilin-like 2 (BTNL2) was associated with the disease. The primary disease-associated variant (rs2076530; P(TDT) = 3 x 10(-6), P(case-control) = 1.1 x 10(-8); replication P(TDT) = 0.0018, P(case-control) = 1.8 x 10(-6)) represents a risk factor that is independent of variation in HLA-DRB1. BTNL2 is a member of the immunoglobulin superfamily and has been implicated as a costimulatory molecule involved in T-cell activation on the basis of its homology to B7-1. The G --> A transition constituting rs2076530 leads to the use of a cryptic splice site located 4 bp upstream of the affected wild-type donor site. Transcripts of the risk-associated allele have a premature stop in the spliced mRNA. The resulting protein lacks the C-terminal IgC domain and transmembrane helix, thereby disrupting the membrane localization of the protein, as shown in experiments using green fluorescent protein and V5 fusion proteins.
67 schema:genre research_article
68 schema:inLanguage en
69 schema:isAccessibleForFree false
70 schema:isPartOf N16239802b00b4b62ad4753ae1cc2f7b1
71 N23b2cb582f6b4624b5ea26c4d1a06a20
72 sg:journal.1103138
73 schema:name Sarcoidosis is associated with a truncating splice site mutation in BTNL2
74 schema:pagination 357-364
75 schema:productId N0344512170964236aef63579c45970d2
76 N53dcaea91fd24c74aa8a846f43e788e0
77 N6668dd1aff7440b6be6f60570dba352d
78 Ndc76370f829e4f35a76cd868e2a16b1a
79 Nf21b6106c00143a19035773df3c87744
80 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030613718
81 https://doi.org/10.1038/ng1519
82 schema:sdDatePublished 2019-04-11T12:22
83 schema:sdLicense https://scigraph.springernature.com/explorer/license/
84 schema:sdPublisher Nb7504289b4a74ed1aeecac2ecf6814fa
85 schema:url http://www.nature.com/articles/ng1519
86 sgo:license sg:explorer/license/
87 sgo:sdDataset articles
88 rdf:type schema:ScholarlyArticle
89 N0344512170964236aef63579c45970d2 schema:name doi
90 schema:value 10.1038/ng1519
91 rdf:type schema:PropertyValue
92 N044e1f5daeac4aa495cc5976086de291 rdf:first sg:person.01013226232.38
93 rdf:rest N13b3a7c2266d4ebc9135cdf89334527a
94 N13b3a7c2266d4ebc9135cdf89334527a rdf:first sg:person.01041741727.17
95 rdf:rest Nd18b38e137b14370afd9f592b7f0a6cd
96 N16239802b00b4b62ad4753ae1cc2f7b1 schema:issueNumber 4
97 rdf:type schema:PublicationIssue
98 N19307e1557d54f58a2bd6042f4ad8b11 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
99 schema:name Butyrophilins
100 rdf:type schema:DefinedTerm
101 N197631713f9943b0aab8a0924cdfc355 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
102 schema:name HeLa Cells
103 rdf:type schema:DefinedTerm
104 N1a5d4ac8dc5f4d9ebf5166a0bf908f8f schema:name Institute of Medical Statistics and Informatics, Christian-Albrechts-University Kiel, Universitätsklinikum Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany.
105 rdf:type schema:Organization
106 N1f183cbcf3dc4aaf9d17c35ce4be9bf5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
107 schema:name Bronchoalveolar Lavage
108 rdf:type schema:DefinedTerm
109 N23b2cb582f6b4624b5ea26c4d1a06a20 schema:volumeNumber 37
110 rdf:type schema:PublicationVolume
111 N27e673b27b64462ba506b8e6a2e83216 rdf:first sg:person.01262760646.95
112 rdf:rest Na535ad45b21c48efbc504d7d24d77f32
113 N2ea0a21fcff24a138f5e0bf5530579a7 rdf:first sg:person.01360543616.07
114 rdf:rest Nd0a7b57d57644c46b10031de23661561
115 N30e99169e8184da78da5c7661dc14c17 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
116 schema:name HLA-DR Antigens
117 rdf:type schema:DefinedTerm
118 N353bbfdb490f4640bfd0efe0fe622e88 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
119 schema:name Monocytes
120 rdf:type schema:DefinedTerm
121 N36a7e1ae85ea4ed6a2dbcab1fcc0e5ce rdf:first sg:person.0654171775.32
122 rdf:rest Nde5e1ecbf8504a7695f39c10f7f3bea7
123 N37bfc2d080504b548a18462423f41378 schema:name Institute for Clinical Molecular Biology, Christian-Albrechts-University Kiel, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.
124 Kiel Center of the German National Genotyping Platform, Christian-Albrechts-University Kiel, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.
125 rdf:type schema:Organization
126 N3b6a0ff9f083469b90efdfeb5b1fcb5b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
127 schema:name HLA-DRB1 Chains
128 rdf:type schema:DefinedTerm
129 N47f193d00a8140f7a1ef5af68b9ed9dc schema:name Institute for Clinical Molecular Biology, Christian-Albrechts-University Kiel, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.
130 Kiel Center of the German National Genotyping Platform, Christian-Albrechts-University Kiel, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.
131 rdf:type schema:Organization
132 N4aa25714228d48f9a7b9de2c06e3d4b3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
133 schema:name Green Fluorescent Proteins
134 rdf:type schema:DefinedTerm
135 N4d035ae1e77540608d13a8e6edb9d4ce schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
136 schema:name Membrane Glycoproteins
137 rdf:type schema:DefinedTerm
138 N5114a97c2c1846b7b0ff149895ec9cf7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
139 schema:name Risk Factors
140 rdf:type schema:DefinedTerm
141 N5224bd6da0744daa92576ae202b58ece rdf:first sg:person.01314631471.28
142 rdf:rest N36a7e1ae85ea4ed6a2dbcab1fcc0e5ce
143 N53dcaea91fd24c74aa8a846f43e788e0 schema:name nlm_unique_id
144 schema:value 9216904
145 rdf:type schema:PropertyValue
146 N54091d8890b2410c82f6b8f00a9dd3cd schema:name Kiel Center of the German National Genotyping Platform, Christian-Albrechts-University Kiel, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.
147 rdf:type schema:Organization
148 N54aa0b46604b4fddade279c6f71ab072 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
149 schema:name RNA Splicing
150 rdf:type schema:DefinedTerm
151 N5c62735b838849f0b207d9c869b32e4e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
152 schema:name Sarcoidosis
153 rdf:type schema:DefinedTerm
154 N5c72e7bca47d43f4bdf79712408f290f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
155 schema:name Humans
156 rdf:type schema:DefinedTerm
157 N65270c2218964f43a2d5b11aa432bda3 rdf:first sg:person.01051006742.51
158 rdf:rest N2ea0a21fcff24a138f5e0bf5530579a7
159 N65500951464d45ef85f77c1140f7d2f4 rdf:first sg:person.01330513146.92
160 rdf:rest N5224bd6da0744daa92576ae202b58ece
161 N6668dd1aff7440b6be6f60570dba352d schema:name readcube_id
162 schema:value 91d7149f02edecfa2eba2d462f4a8e40cb497207727f2fae06f1744cfae9d24d
163 rdf:type schema:PropertyValue
164 N688aabb1a4ff43198402d3c39da34483 rdf:first sg:person.01166436727.52
165 rdf:rest Nf527808745e5407499167d9775264f0f
166 N68f69c604a0c4bd8b4e8aed367e12495 schema:name Institute for Clinical Molecular Biology, Christian-Albrechts-University Kiel, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.
167 Kiel Center of the German National Genotyping Platform, Christian-Albrechts-University Kiel, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.
168 rdf:type schema:Organization
169 N942bbcc281384ab9a6c4bdc0db5472ff schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
170 schema:name Protein Conformation
171 rdf:type schema:DefinedTerm
172 Na25e113f810d42c2a7e3a78308f09aa8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
173 schema:name Polymorphism, Single Nucleotide
174 rdf:type schema:DefinedTerm
175 Na535ad45b21c48efbc504d7d24d77f32 rdf:first sg:person.0602155540.95
176 rdf:rest N65270c2218964f43a2d5b11aa432bda3
177 Nb1961847fbcf4e63b1a14193d53a81d5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
178 schema:name Tumor Necrosis Factor-alpha
179 rdf:type schema:DefinedTerm
180 Nb7504289b4a74ed1aeecac2ecf6814fa schema:name Springer Nature - SN SciGraph project
181 rdf:type schema:Organization
182 Nbcb60f96e45d4c879d69753b194d64dc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
183 schema:name Mycobacterium tuberculosis
184 rdf:type schema:DefinedTerm
185 Nbf902a0b7c11497ebd12e56fc8d60edf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
186 schema:name Recombinant Fusion Proteins
187 rdf:type schema:DefinedTerm
188 Nc0a459d17437425b8a829390202d17ad schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
189 schema:name RNA Splice Sites
190 rdf:type schema:DefinedTerm
191 Nca4d3c34872a4925950a88131f68f5ac rdf:first sg:person.01223143620.01
192 rdf:rest rdf:nil
193 Ncfcab8259922452ea58be60910925589 rdf:first sg:person.0747726071.53
194 rdf:rest Ne84011d64dac476ab15cb7056f5dae10
195 Nd0a7b57d57644c46b10031de23661561 rdf:first sg:person.01134440077.58
196 rdf:rest Nee4c6c7229614f828226a8f5d5ceb6eb
197 Nd18b38e137b14370afd9f592b7f0a6cd rdf:first sg:person.0626252643.12
198 rdf:rest N27e673b27b64462ba506b8e6a2e83216
199 Nd1dd63b419a04b6395d04b56898136c0 schema:name Institute for Clinical Molecular Biology, Christian-Albrechts-University Kiel, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.
200 rdf:type schema:Organization
201 Nd8e211e4f8e44636a0b3782b1cb52769 schema:name Institute for Clinical Molecular Biology, Christian-Albrechts-University Kiel, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.
202 rdf:type schema:Organization
203 Ndb3588e87ccc48968c65a1a086002f92 rdf:first sg:person.0620663342.45
204 rdf:rest N044e1f5daeac4aa495cc5976086de291
205 Ndc76370f829e4f35a76cd868e2a16b1a schema:name dimensions_id
206 schema:value pub.1030613718
207 rdf:type schema:PropertyValue
208 Nde5e1ecbf8504a7695f39c10f7f3bea7 rdf:first sg:person.0644320773.14
209 rdf:rest Ne4e643f8458c4bada02c0ce81e26c1aa
210 Ne4e643f8458c4bada02c0ce81e26c1aa rdf:first sg:person.01367421633.32
211 rdf:rest Nca4d3c34872a4925950a88131f68f5ac
212 Ne73f1b849dea45448d39549d3c053682 rdf:first sg:person.0715477123.34
213 rdf:rest N65500951464d45ef85f77c1140f7d2f4
214 Ne84011d64dac476ab15cb7056f5dae10 rdf:first sg:person.01026521124.04
215 rdf:rest Ndb3588e87ccc48968c65a1a086002f92
216 Nee4c6c7229614f828226a8f5d5ceb6eb rdf:first sg:person.01006146273.56
217 rdf:rest Ne73f1b849dea45448d39549d3c053682
218 Nef3ff40079cd4b8c93e17916a5b12182 schema:name Institute for Clinical Molecular Biology, Christian-Albrechts-University Kiel, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.
219 rdf:type schema:Organization
220 Nf21b6106c00143a19035773df3c87744 schema:name pubmed_id
221 schema:value 15735647
222 rdf:type schema:PropertyValue
223 Nf527808745e5407499167d9775264f0f rdf:first sg:person.0770420375.31
224 rdf:rest Ncfcab8259922452ea58be60910925589
225 Nfb8e64854d07448981f3ed1e6a41e076 schema:name Kiel Center of the German National Genotyping Platform, Christian-Albrechts-University Kiel, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Schittenhelmstr. 12, 24105 Kiel, Germany.
226 rdf:type schema:Organization
227 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
228 schema:name Biological Sciences
229 rdf:type schema:DefinedTerm
230 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
231 schema:name Genetics
232 rdf:type schema:DefinedTerm
233 sg:journal.1103138 schema:issn 1061-4036
234 1546-1718
235 schema:name Nature Genetics
236 rdf:type schema:Periodical
237 sg:person.01006146273.56 schema:affiliation https://www.grid.ac/institutes/grid.418187.3
238 schema:familyName Reiling
239 schema:givenName Norbert
240 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01006146273.56
241 rdf:type schema:Person
242 sg:person.01013226232.38 schema:affiliation N47f193d00a8140f7a1ef5af68b9ed9dc
243 schema:familyName Stenzel
244 schema:givenName Annette
245 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01013226232.38
246 rdf:type schema:Person
247 sg:person.01026521124.04 schema:affiliation Nd1dd63b419a04b6395d04b56898136c0
248 schema:familyName Rosenstiel
249 schema:givenName Philip
250 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026521124.04
251 rdf:type schema:Person
252 sg:person.01041741727.17 schema:affiliation https://www.grid.ac/institutes/grid.6363.0
253 schema:familyName Nagy
254 schema:givenName Marion
255 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01041741727.17
256 rdf:type schema:Person
257 sg:person.01051006742.51 schema:affiliation N54091d8890b2410c82f6b8f00a9dd3cd
258 schema:familyName Koch
259 schema:givenName Andreas
260 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01051006742.51
261 rdf:type schema:Person
262 sg:person.01134440077.58 schema:affiliation https://www.grid.ac/institutes/grid.482435.c
263 schema:familyName Seegert
264 schema:givenName Dirk
265 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01134440077.58
266 rdf:type schema:Person
267 sg:person.01166436727.52 schema:affiliation Nef3ff40079cd4b8c93e17916a5b12182
268 schema:familyName Valentonyte
269 schema:givenName Ruta
270 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166436727.52
271 rdf:type schema:Person
272 sg:person.01223143620.01 schema:affiliation N37bfc2d080504b548a18462423f41378
273 schema:familyName Schreiber
274 schema:givenName Stefan
275 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01223143620.01
276 rdf:type schema:Person
277 sg:person.01262760646.95 schema:affiliation Nfb8e64854d07448981f3ed1e6a41e076
278 schema:familyName Franke
279 schema:givenName Andre
280 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01262760646.95
281 rdf:type schema:Person
282 sg:person.01314631471.28 schema:affiliation https://www.grid.ac/institutes/grid.418245.e
283 schema:familyName Platzer
284 schema:givenName Matthias
285 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01314631471.28
286 rdf:type schema:Person
287 sg:person.01330513146.92 schema:affiliation https://www.grid.ac/institutes/grid.4562.5
288 schema:familyName Schwinger
289 schema:givenName Eberhard
290 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01330513146.92
291 rdf:type schema:Person
292 sg:person.01360543616.07 schema:affiliation https://www.grid.ac/institutes/grid.419528.3
293 schema:familyName Lengauer
294 schema:givenName Thomas
295 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01360543616.07
296 rdf:type schema:Person
297 sg:person.01367421633.32 schema:affiliation https://www.grid.ac/institutes/grid.4562.5
298 schema:familyName Schürmann
299 schema:givenName Manfred
300 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01367421633.32
301 rdf:type schema:Person
302 sg:person.0602155540.95 schema:affiliation Nd8e211e4f8e44636a0b3782b1cb52769
303 schema:familyName Haesler
304 schema:givenName Robert
305 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602155540.95
306 rdf:type schema:Person
307 sg:person.0620663342.45 schema:affiliation https://www.grid.ac/institutes/grid.419528.3
308 schema:familyName Albrecht
309 schema:givenName Mario
310 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0620663342.45
311 rdf:type schema:Person
312 sg:person.0626252643.12 schema:affiliation https://www.grid.ac/institutes/grid.5963.9
313 schema:familyName Gaede
314 schema:givenName Karoline I
315 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0626252643.12
316 rdf:type schema:Person
317 sg:person.0644320773.14 schema:affiliation https://www.grid.ac/institutes/grid.5963.9
318 schema:familyName Müller-Quernheim
319 schema:givenName Joachim
320 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0644320773.14
321 rdf:type schema:Person
322 sg:person.0654171775.32 schema:affiliation N1a5d4ac8dc5f4d9ebf5166a0bf908f8f
323 schema:familyName Krawczak
324 schema:givenName Michael
325 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0654171775.32
326 rdf:type schema:Person
327 sg:person.0715477123.34 schema:affiliation https://www.grid.ac/institutes/grid.418187.3
328 schema:familyName Ehlers
329 schema:givenName Stefan
330 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0715477123.34
331 rdf:type schema:Person
332 sg:person.0747726071.53 schema:affiliation https://www.grid.ac/institutes/grid.418245.e
333 schema:familyName Huse
334 schema:givenName Klaus
335 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747726071.53
336 rdf:type schema:Person
337 sg:person.0770420375.31 schema:affiliation N68f69c604a0c4bd8b4e8aed367e12495
338 schema:familyName Hampe
339 schema:givenName Jochen
340 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0770420375.31
341 rdf:type schema:Person
342 sg:pub.10.1007/bf00210743 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037661352
343 https://doi.org/10.1007/bf00210743
344 rdf:type schema:CreativeWork
345 sg:pub.10.1007/bf00451461 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000796427
346 https://doi.org/10.1007/bf00451461
347 rdf:type schema:CreativeWork
348 sg:pub.10.1007/s002510050633 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008572724
349 https://doi.org/10.1007/s002510050633
350 rdf:type schema:CreativeWork
351 sg:pub.10.1007/s00439-003-1075-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031168431
352 https://doi.org/10.1007/s00439-003-1075-5
353 rdf:type schema:CreativeWork
354 sg:pub.10.1038/35069112 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051894109
355 https://doi.org/10.1038/35069112
356 rdf:type schema:CreativeWork
357 sg:pub.10.1038/35069118 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035271375
358 https://doi.org/10.1038/35069118
359 rdf:type schema:CreativeWork
360 sg:pub.10.1038/nature01621 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004357092
361 https://doi.org/10.1038/nature01621
362 rdf:type schema:CreativeWork
363 sg:pub.10.1038/ni1010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028970446
364 https://doi.org/10.1038/ni1010
365 rdf:type schema:CreativeWork
366 sg:pub.10.1038/nri727 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007286982
367 https://doi.org/10.1038/nri727
368 rdf:type schema:CreativeWork
369 sg:pub.10.1038/sj.gene.6364001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018279945
370 https://doi.org/10.1038/sj.gene.6364001
371 rdf:type schema:CreativeWork
372 https://app.dimensions.ai/details/publication/pub.1074597393 schema:CreativeWork
373 https://app.dimensions.ai/details/publication/pub.1074998806 schema:CreativeWork
374 https://app.dimensions.ai/details/publication/pub.1080712235 schema:CreativeWork
375 https://app.dimensions.ai/details/publication/pub.1082894760 schema:CreativeWork
376 https://doi.org/10.1006/geno.2000.6406 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031464928
377 rdf:type schema:CreativeWork
378 https://doi.org/10.1016/s0014-5793(03)00161-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021953204
379 rdf:type schema:CreativeWork
380 https://doi.org/10.1016/s1074-7613(00)80158-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003151065
381 rdf:type schema:CreativeWork
382 https://doi.org/10.1016/s1074-7613(00)80333-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052033908
383 rdf:type schema:CreativeWork
384 https://doi.org/10.1016/s1074-7613(02)00362-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1032987693
385 rdf:type schema:CreativeWork
386 https://doi.org/10.1034/j.1399-3003.1999.14d02.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1003943181
387 rdf:type schema:CreativeWork
388 https://doi.org/10.1038/sj.embor.7400006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016710334
389 rdf:type schema:CreativeWork
390 https://doi.org/10.1046/j.1365-2796.2003.01074.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1040374362
391 rdf:type schema:CreativeWork
392 https://doi.org/10.1053/gast.2003.50157 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029162797
393 rdf:type schema:CreativeWork
394 https://doi.org/10.1056/nejm199704243361706 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014565283
395 rdf:type schema:CreativeWork
396 https://doi.org/10.1073/pnas.252771499 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020883565
397 rdf:type schema:CreativeWork
398 https://doi.org/10.1073/pnas.261567999 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000136784
399 rdf:type schema:CreativeWork
400 https://doi.org/10.1073/pnas.95.19.11389 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027652455
401 rdf:type schema:CreativeWork
402 https://doi.org/10.1084/jem.183.6.2541 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002464229
403 rdf:type schema:CreativeWork
404 https://doi.org/10.1086/302566 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058610135
405 rdf:type schema:CreativeWork
406 https://doi.org/10.1086/378097 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058671153
407 rdf:type schema:CreativeWork
408 https://doi.org/10.1093/bioinformatics/17.7.654 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001119823
409 rdf:type schema:CreativeWork
410 https://doi.org/10.1093/oxfordjournals.molbev.a026065 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024674158
411 rdf:type schema:CreativeWork
412 https://doi.org/10.1164/ajrccm.160.2.ats4-99 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049270626
413 rdf:type schema:CreativeWork
414 https://doi.org/10.1164/ajrccm.164.11.2106001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048731193
415 rdf:type schema:CreativeWork
416 https://doi.org/10.1164/ajrccm.164.5.2007056 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015932413
417 rdf:type schema:CreativeWork
418 https://doi.org/10.1164/ajrccm.165.8.200110-0320 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022008165
419 rdf:type schema:CreativeWork
420 https://doi.org/10.1164/rccm.2112060 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014079548
421 rdf:type schema:CreativeWork
422 https://doi.org/10.1165/ajrcmb.25.3.4261 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016561953
423 rdf:type schema:CreativeWork
424 https://doi.org/10.1165/rcmb.4782 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026682897
425 rdf:type schema:CreativeWork
426 https://doi.org/10.2144/04361dd01 schema:sameAs https://app.dimensions.ai/details/publication/pub.1076629358
427 rdf:type schema:CreativeWork
428 https://doi.org/10.4049/jimmunol.167.6.3339 schema:sameAs https://app.dimensions.ai/details/publication/pub.1074877099
429 rdf:type schema:CreativeWork
430 https://doi.org/10.4049/jimmunol.171.8.4311 schema:sameAs https://app.dimensions.ai/details/publication/pub.1076576969
431 rdf:type schema:CreativeWork
432 https://www.grid.ac/institutes/grid.418187.3 schema:alternateName Research Center Borstel - Leibniz-Center for Medicine and Biosciences
433 schema:name Research Center Borstel, Parkallee 1-40, 23845 Borstel, Germany.
434 rdf:type schema:Organization
435 https://www.grid.ac/institutes/grid.418245.e schema:alternateName Fritz Lipmann Institute
436 schema:name Institute for Molecular Biotechnology, Beutenbergstraße 11, 07745 Jena, Germany.
437 rdf:type schema:Organization
438 https://www.grid.ac/institutes/grid.419528.3 schema:alternateName Max Planck Institute for Informatics
439 schema:name Max-Planck-Institute for Informatics, Stuhlsatzenhausweg 85, 66123 Saarbrücken, Germany.
440 rdf:type schema:Organization
441 https://www.grid.ac/institutes/grid.4562.5 schema:alternateName University of Lübeck
442 schema:name Institute of Human Genetics, University of Lübeck; Ratzeburger Allee 160, 23538 Lübeck, Germany.
443 rdf:type schema:Organization
444 https://www.grid.ac/institutes/grid.482435.c schema:alternateName Conaris
445 schema:name Conaris Research Institute AG, Schauenburgerstr. 116, 24118 Kiel, Germany.
446 rdf:type schema:Organization
447 https://www.grid.ac/institutes/grid.5963.9 schema:alternateName University of Freiburg
448 schema:name Department of Pneumology, University of Freiburg, Killian-Str.5, 79106 Freiburg, Germany.
449 Research Center Borstel, Parkallee 1-40, 23845 Borstel, Germany.
450 rdf:type schema:Organization
451 https://www.grid.ac/institutes/grid.6363.0 schema:alternateName Charité
452 schema:name Institute of Forensic Medicine, Charite University Hospital, Hannoversche Straße 6, 10115 Berlin, Germany.
453 rdf:type schema:Organization
 




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


...