CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1994-11

AUTHORS

Yoshiya Kawaguchi, Toshihiro Okamoto, Masafumi Taniwaki, Megumi Aizawa, Miho Inoue, Sadao Katayama, Hideshi Kawakami, Shigenobu Nakamura, Masaki Nishimura, Ichiro Akiguchi, Jun Kimura, Shuh Narumiya, Akira Kakizuka

ABSTRACT

We have identified a novel gene containing CAG repeats and mapped it to chromosome 14q32.1, the genetic locus for Machado-Joseph disease (MJD). In normal individuals the gene contains between 13 and 36 CAG repeats, whereas most of the clinically diagnosed patients and all of the affected members of a family with the clinical and pathological diagnosis of MJD show expansion of the repeat-number (from 68–79). Southern blot analyses and genomic cloning demonstrates the existence of related genes. These results raise the possibility that similar abnormalities in related genes may give rise to diseases similar to MJD. More... »

PAGES

221-228

References to SciGraph publications

  • 1992-02. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy in NATURE
  • 1991-07. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy in NATURE
  • 1993-08. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease in NATURE GENETICS
  • 1992-02. Cloning of the essential myotonic dystrophy region and mapping of the putative defect in NATURE
  • 1993-08. Trinucleotide repeat length instability and age of onset in Huntington's disease in NATURE GENETICS
  • 1993-07. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 in NATURE GENETICS
  • 1993-07. The gene for Machado–Joseph disease maps to human chromosome 14q in NATURE GENETICS
  • 1994-01. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p in NATURE GENETICS
  • 1993-08. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease in NATURE GENETICS
  • 1993-01. Structure and physical map of 64 variable segments in the 3′ 0.8–megabase region of the human immunoglobulin heavy–chain locus in NATURE GENETICS
  • 1993-11. Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues in NATURE GENETICS
  • 1994-01. Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) in NATURE GENETICS
  • 1993-07. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1 in NATURE GENETICS
  • 1992-02. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy in NATURE
  • Journal

    TITLE

    Nature Genetics

    ISSUE

    3

    VOLUME

    8

    Clinical Trials linked to this publication

    Related Patents

  • Compositions And Methods For Modulating Ataxin 3 Expression
  • Intron Associated With Myotonic Dystrophy Type 2 And Methods Of Use
  • Method Of Detecting Expanded Cag Repeat Region In Spinocerebellar Ataxia-2 Gene
  • Sca7 Gene And Method Of Use
  • Spinocerebellar Ataxia Type 8 And Methods Of Detection
  • Proapoptotic Peptides Dependence Polypeptides And Methods Of Use
  • Method For The Identification And Characterization Of Interacting Molecules By Automated Interaction Mating
  • An Animal Model And A Method For Producing An Animal Model
  • Spinocerebellar Ataxia Type 8 And Methods Of Detection
  • Sca7 Gene And Methods Of Use
  • Sca7 Gene And Methods Of Use
  • Spinocerebellar Ataxia Type 8 And Methods Of Detection
  • Large Scale Genotyping Of Diseases And A Diagnostic Test For Spinocerebellar Ataxia Type 6
  • Methods For Measuring Trinucleotide Repeat Expansion In Saccharomyces Cerevisiae
  • Nucleic Acid Encoding Spinocerebellar Ataxia-2 And Products Related Thereto
  • Sca2 Knockout Animal And Methods Of Use
  • Transgenic Mouse Expressing A Polynucleotide Encoding A Human Ataxin-2 Polypeptide
  • Intron Associated With Myotonic Dystrophy Type 2 And Methods Of Use
  • Transgenic Pig Model For A Hereditary Neurodegenerative Autosomal Dominant Disease
  • Dna Test For Sca-10
  • Methods Of Detecting Spinocerebellar Ataxia-2 Nucleic Acids
  • An Animal Model And A Method For Producing An Animal Model
  • Expression Vector For Cholesterol 24-Hydrolase In Therapy Of Polyglutamine Repeat Spinocerebellar Ataxias
  • Spinocerebellar Ataxia Type 8 And Methods Of Detection
  • Dna Sequence Encoding The Machado-Joseph Disease Gene And Uses Thereof
  • Spinocerebellar Ataxia Type 8 And Methods Of Detection
  • An Animal Model And A Method For Producing An Animal Model
  • An Animal Model And A Method For Producing An Animal Model
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng1194-221

    DOI

    http://dx.doi.org/10.1038/ng1194-221

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1036365552

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/7874163


    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/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "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"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Adult", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Amino Acid Sequence", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Ataxin-3", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Base Sequence", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Blotting, Southern", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Chromosomes, Human, Pair 14", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cloning, Molecular", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genes", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "In Situ Hybridization, Fluorescence", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Machado-Joseph Disease", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Middle Aged", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Minisatellite Repeats", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Molecular Sequence Data", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Multigene Family", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Nerve Tissue Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Nuclear Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Pedigree", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Repressor Proteins", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Department of Pharmacology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan", 
              "id": "http://www.grid.ac/institutes/grid.258799.8", 
              "name": [
                "Department of Pharmacology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kawaguchi", 
            "givenName": "Yoshiya", 
            "id": "sg:person.016622614372.25", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016622614372.25"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pharmacology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan", 
              "id": "http://www.grid.ac/institutes/grid.258799.8", 
              "name": [
                "Department of Pharmacology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Okamoto", 
            "givenName": "Toshihiro", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "The 3rd Department of Internal Medicine, Kyoto Prefectural University of Medicine, 602, Kyoto, Japan", 
              "id": "http://www.grid.ac/institutes/grid.272458.e", 
              "name": [
                "The 3rd Department of Internal Medicine, Kyoto Prefectural University of Medicine, 602, Kyoto, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Taniwaki", 
            "givenName": "Masafumi", 
            "id": "sg:person.01320436003.92", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01320436003.92"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pharmacology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan", 
              "id": "http://www.grid.ac/institutes/grid.258799.8", 
              "name": [
                "Department of Pharmacology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Aizawa", 
            "givenName": "Megumi", 
            "id": "sg:person.01124753676.60", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01124753676.60"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pharmacology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan", 
              "id": "http://www.grid.ac/institutes/grid.258799.8", 
              "name": [
                "Department of Pharmacology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Inoue", 
            "givenName": "Miho", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "The 3rd Department of Internal Medicine, Hiroshima University School of Medicine, 734, Hiroshima, Japan", 
              "id": "http://www.grid.ac/institutes/grid.257022.0", 
              "name": [
                "The 3rd Department of Internal Medicine, Hiroshima University School of Medicine, 734, Hiroshima, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Katayama", 
            "givenName": "Sadao", 
            "id": "sg:person.013177640161.16", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013177640161.16"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "The 3rd Department of Internal Medicine, Hiroshima University School of Medicine, 734, Hiroshima, Japan", 
              "id": "http://www.grid.ac/institutes/grid.257022.0", 
              "name": [
                "The 3rd Department of Internal Medicine, Hiroshima University School of Medicine, 734, Hiroshima, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kawakami", 
            "givenName": "Hideshi", 
            "id": "sg:person.0776453413.77", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0776453413.77"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "The 3rd Department of Internal Medicine, Hiroshima University School of Medicine, 734, Hiroshima, Japan", 
              "id": "http://www.grid.ac/institutes/grid.257022.0", 
              "name": [
                "The 3rd Department of Internal Medicine, Hiroshima University School of Medicine, 734, Hiroshima, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nakamura", 
            "givenName": "Shigenobu", 
            "id": "sg:person.07465006642.69", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07465006642.69"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan", 
              "id": "http://www.grid.ac/institutes/grid.258799.8", 
              "name": [
                "Department of Neurology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nishimura", 
            "givenName": "Masaki", 
            "id": "sg:person.01230465775.34", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230465775.34"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan", 
              "id": "http://www.grid.ac/institutes/grid.258799.8", 
              "name": [
                "Department of Neurology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Akiguchi", 
            "givenName": "Ichiro", 
            "id": "sg:person.0712612255.71", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0712612255.71"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan", 
              "id": "http://www.grid.ac/institutes/grid.258799.8", 
              "name": [
                "Department of Neurology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kimura", 
            "givenName": "Jun", 
            "id": "sg:person.01074747512.07", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01074747512.07"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pharmacology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan", 
              "id": "http://www.grid.ac/institutes/grid.258799.8", 
              "name": [
                "Department of Pharmacology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Narumiya", 
            "givenName": "Shuh", 
            "id": "sg:person.01122725670.71", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01122725670.71"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pharmacology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan", 
              "id": "http://www.grid.ac/institutes/grid.258799.8", 
              "name": [
                "Department of Pharmacology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kakizuka", 
            "givenName": "Akira", 
            "id": "sg:person.0767601751.11", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0767601751.11"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/ng1193-259", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046494495", 
              "https://doi.org/10.1038/ng1193-259"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng0793-295", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013454954", 
              "https://doi.org/10.1038/ng0793-295"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng0194-14", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020850683", 
              "https://doi.org/10.1038/ng0194-14"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/355548a0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039513377", 
              "https://doi.org/10.1038/355548a0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/355545a0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030097475", 
              "https://doi.org/10.1038/355545a0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng0194-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037548529", 
              "https://doi.org/10.1038/ng0194-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng0893-398", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001162353", 
              "https://doi.org/10.1038/ng0893-398"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng0893-387", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048577444", 
              "https://doi.org/10.1038/ng0893-387"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng0793-300", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051428769", 
              "https://doi.org/10.1038/ng0793-300"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/352077a0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039878884", 
              "https://doi.org/10.1038/352077a0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng0893-393", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018721600", 
              "https://doi.org/10.1038/ng0893-393"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng0793-221", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024789892", 
              "https://doi.org/10.1038/ng0793-221"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng0193-88", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004409179", 
              "https://doi.org/10.1038/ng0193-88"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/355547a0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025773144", 
              "https://doi.org/10.1038/355547a0"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "1994-11", 
        "datePublishedReg": "1994-11-01", 
        "description": "We have identified a novel gene containing CAG repeats and mapped it to chromosome 14q32.1, the genetic locus for Machado-Joseph disease (MJD). In normal individuals the gene contains between 13 and 36 CAG repeats, whereas most of the clinically diagnosed patients and all of the affected members of a family with the clinical and pathological diagnosis of MJD show expansion of the repeat-number (from 68\u201379). Southern blot analyses and genomic cloning demonstrates the existence of related genes. These results raise the possibility that similar abnormalities in related genes may give rise to diseases similar to MJD.", 
        "genre": "article", 
        "id": "sg:pub.10.1038/ng1194-221", 
        "inLanguage": "en", 
        "isAccessibleForFree": false, 
        "isPartOf": [
          {
            "id": "sg:journal.1103138", 
            "issn": [
              "1061-4036", 
              "1546-1718"
            ], 
            "name": "Nature Genetics", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "3", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "8"
          }
        ], 
        "keywords": [
          "novel genes", 
          "Machado-Joseph disease", 
          "Southern blot analysis", 
          "genomic cloning", 
          "chromosome 14q32.1", 
          "genetic loci", 
          "related genes", 
          "genes", 
          "CAG repeats", 
          "blot analysis", 
          "repeats", 
          "CAG expansion", 
          "affected members", 
          "cloning", 
          "loci", 
          "family", 
          "members", 
          "similar abnormalities", 
          "disease", 
          "expansion", 
          "normal individuals", 
          "individuals", 
          "analysis", 
          "abnormalities", 
          "existence", 
          "possibility", 
          "results", 
          "diagnosis", 
          "patients", 
          "pathological diagnosis"
        ], 
        "name": "CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1", 
        "pagination": "221-228", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1036365552"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/ng1194-221"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "7874163"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/ng1194-221", 
          "https://app.dimensions.ai/details/publication/pub.1036365552"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-01-01T18:06", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20220101/entities/gbq_results/article/article_239.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1038/ng1194-221"
      }
    ]
     

    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/ng1194-221'

    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/ng1194-221'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng1194-221'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng1194-221'


     

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

    326 TRIPLES      22 PREDICATES      93 URIs      71 LITERALS      29 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/ng1194-221 schema:about N0238c4686b844172b600f59ce90f23c8
    2 N0a4448b640b4467b9275068c3528b99a
    3 N14cfda86cf8343049f6cf2cd5cae2ed5
    4 N2200cc85891c45f2a88b70c4df640691
    5 N2946f542127240ad9b238f59a468d469
    6 N3660dd352ba0460eba59b5a277ab2e82
    7 N3c2a66584dc84c51aa6eb50a392d4130
    8 N3f9b9e3d538d46b3b75537f24f508da4
    9 N50a81e9f09464531abb16060dc859395
    10 N5a66e3d850014f21b1e8bb1848a8bac3
    11 N6742908ea0a842af8bb36f6a750bc12e
    12 N73ced86de3974a0a9795399c3daff26b
    13 N78e4bf947dac4e469f14da5953d362c5
    14 N853b8e2d973e4bd2954e9d3e6267d173
    15 N8fc0a8944951425b9a48922f9dec6fe8
    16 N96dc60903fd5423593632dfc51ca667c
    17 Nafd81c262c0a4613874abbb8dc18ad7b
    18 Nb13409d2c81145f39a102e7cd7b8361d
    19 Nc1b24e4bb1074bcab476a2735b9e1a75
    20 Nd5622ad2de5544a7b92c676d189195cb
    21 Ne13763e84a1f422786343f15f6479fb7
    22 Ne2fc1c528a684a38b51f7e8c92e0234f
    23 anzsrc-for:06
    24 anzsrc-for:0604
    25 schema:author N48ce2f32f4584e0e827b8d6ca0fd3e23
    26 schema:citation sg:pub.10.1038/352077a0
    27 sg:pub.10.1038/355545a0
    28 sg:pub.10.1038/355547a0
    29 sg:pub.10.1038/355548a0
    30 sg:pub.10.1038/ng0193-88
    31 sg:pub.10.1038/ng0194-14
    32 sg:pub.10.1038/ng0194-9
    33 sg:pub.10.1038/ng0793-221
    34 sg:pub.10.1038/ng0793-295
    35 sg:pub.10.1038/ng0793-300
    36 sg:pub.10.1038/ng0893-387
    37 sg:pub.10.1038/ng0893-393
    38 sg:pub.10.1038/ng0893-398
    39 sg:pub.10.1038/ng1193-259
    40 schema:datePublished 1994-11
    41 schema:datePublishedReg 1994-11-01
    42 schema:description We have identified a novel gene containing CAG repeats and mapped it to chromosome 14q32.1, the genetic locus for Machado-Joseph disease (MJD). In normal individuals the gene contains between 13 and 36 CAG repeats, whereas most of the clinically diagnosed patients and all of the affected members of a family with the clinical and pathological diagnosis of MJD show expansion of the repeat-number (from 68–79). Southern blot analyses and genomic cloning demonstrates the existence of related genes. These results raise the possibility that similar abnormalities in related genes may give rise to diseases similar to MJD.
    43 schema:genre article
    44 schema:inLanguage en
    45 schema:isAccessibleForFree false
    46 schema:isPartOf N0835fabd10ae445981d21c146a8d835f
    47 Neae9e5b16e0041449fdd9e5d933c21fe
    48 sg:journal.1103138
    49 schema:keywords CAG expansion
    50 CAG repeats
    51 Machado-Joseph disease
    52 Southern blot analysis
    53 abnormalities
    54 affected members
    55 analysis
    56 blot analysis
    57 chromosome 14q32.1
    58 cloning
    59 diagnosis
    60 disease
    61 existence
    62 expansion
    63 family
    64 genes
    65 genetic loci
    66 genomic cloning
    67 individuals
    68 loci
    69 members
    70 normal individuals
    71 novel genes
    72 pathological diagnosis
    73 patients
    74 possibility
    75 related genes
    76 repeats
    77 results
    78 similar abnormalities
    79 schema:name CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    80 schema:pagination 221-228
    81 schema:productId N1697c3ec97ec4513992dcf6df155bd83
    82 N787a64fed94b4778bd9422f8a7fb6cd4
    83 Ncaecd0878a4a465880c2b766194c3670
    84 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036365552
    85 https://doi.org/10.1038/ng1194-221
    86 schema:sdDatePublished 2022-01-01T18:06
    87 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    88 schema:sdPublisher Nc44f9a8f584544f6b80e583dd0931016
    89 schema:url https://doi.org/10.1038/ng1194-221
    90 sgo:license sg:explorer/license/
    91 sgo:sdDataset articles
    92 rdf:type schema:ScholarlyArticle
    93 N0238c4686b844172b600f59ce90f23c8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    94 schema:name Minisatellite Repeats
    95 rdf:type schema:DefinedTerm
    96 N0835fabd10ae445981d21c146a8d835f schema:volumeNumber 8
    97 rdf:type schema:PublicationVolume
    98 N0a4448b640b4467b9275068c3528b99a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    99 schema:name Repressor Proteins
    100 rdf:type schema:DefinedTerm
    101 N12fe0d517f0147fa908709863075a2ad rdf:first sg:person.01074747512.07
    102 rdf:rest Nc91130fe562140d8b3b8376aba38e152
    103 N14cfda86cf8343049f6cf2cd5cae2ed5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    104 schema:name Adult
    105 rdf:type schema:DefinedTerm
    106 N1697c3ec97ec4513992dcf6df155bd83 schema:name pubmed_id
    107 schema:value 7874163
    108 rdf:type schema:PropertyValue
    109 N1db81b89c41c425ba7e562204575953f rdf:first sg:person.01230465775.34
    110 rdf:rest Ncd18246ee95c4fdcb85534bd9c9dab21
    111 N1e5a77ceaff54e94b224aa4ad958256e schema:affiliation grid-institutes:grid.258799.8
    112 schema:familyName Okamoto
    113 schema:givenName Toshihiro
    114 rdf:type schema:Person
    115 N2200cc85891c45f2a88b70c4df640691 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    116 schema:name Nuclear Proteins
    117 rdf:type schema:DefinedTerm
    118 N2946f542127240ad9b238f59a468d469 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    119 schema:name Male
    120 rdf:type schema:DefinedTerm
    121 N3660dd352ba0460eba59b5a277ab2e82 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    122 schema:name In Situ Hybridization, Fluorescence
    123 rdf:type schema:DefinedTerm
    124 N3c2a66584dc84c51aa6eb50a392d4130 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    125 schema:name Molecular Sequence Data
    126 rdf:type schema:DefinedTerm
    127 N3e88a036508647dd97428b4eb9ddf9b2 rdf:first sg:person.013177640161.16
    128 rdf:rest N7fa9ddbdfb8b401bbfc909fac8c191ee
    129 N3f9b9e3d538d46b3b75537f24f508da4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    130 schema:name Multigene Family
    131 rdf:type schema:DefinedTerm
    132 N48ce2f32f4584e0e827b8d6ca0fd3e23 rdf:first sg:person.016622614372.25
    133 rdf:rest Naeb4624033174269a5b15016eb46e7dd
    134 N50a81e9f09464531abb16060dc859395 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    135 schema:name Humans
    136 rdf:type schema:DefinedTerm
    137 N5a66e3d850014f21b1e8bb1848a8bac3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    138 schema:name Chromosomes, Human, Pair 14
    139 rdf:type schema:DefinedTerm
    140 N5bf9d4549638445ca1509c845693596d rdf:first sg:person.0767601751.11
    141 rdf:rest rdf:nil
    142 N5d6e60c4e13d432298e79698984bdc91 rdf:first Ne3d4707d36e94694984db269adf97cc5
    143 rdf:rest N3e88a036508647dd97428b4eb9ddf9b2
    144 N6742908ea0a842af8bb36f6a750bc12e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    145 schema:name Female
    146 rdf:type schema:DefinedTerm
    147 N73ced86de3974a0a9795399c3daff26b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    148 schema:name Ataxin-3
    149 rdf:type schema:DefinedTerm
    150 N776d809ad3994dada23ba1b133a67f97 rdf:first sg:person.07465006642.69
    151 rdf:rest N1db81b89c41c425ba7e562204575953f
    152 N787a64fed94b4778bd9422f8a7fb6cd4 schema:name dimensions_id
    153 schema:value pub.1036365552
    154 rdf:type schema:PropertyValue
    155 N78e4bf947dac4e469f14da5953d362c5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    156 schema:name Pedigree
    157 rdf:type schema:DefinedTerm
    158 N7fa9ddbdfb8b401bbfc909fac8c191ee rdf:first sg:person.0776453413.77
    159 rdf:rest N776d809ad3994dada23ba1b133a67f97
    160 N853b8e2d973e4bd2954e9d3e6267d173 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    161 schema:name Amino Acid Sequence
    162 rdf:type schema:DefinedTerm
    163 N8fc0a8944951425b9a48922f9dec6fe8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    164 schema:name Blotting, Southern
    165 rdf:type schema:DefinedTerm
    166 N96dc60903fd5423593632dfc51ca667c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    167 schema:name Nerve Tissue Proteins
    168 rdf:type schema:DefinedTerm
    169 Nac61d42c9e7d4e0189f9326c48523bea rdf:first sg:person.01124753676.60
    170 rdf:rest N5d6e60c4e13d432298e79698984bdc91
    171 Naeb4624033174269a5b15016eb46e7dd rdf:first N1e5a77ceaff54e94b224aa4ad958256e
    172 rdf:rest Nf5cac599ddfa4d16be4ef58a70956eed
    173 Nafd81c262c0a4613874abbb8dc18ad7b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    174 schema:name Base Sequence
    175 rdf:type schema:DefinedTerm
    176 Nb13409d2c81145f39a102e7cd7b8361d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    177 schema:name Genes
    178 rdf:type schema:DefinedTerm
    179 Nc1b24e4bb1074bcab476a2735b9e1a75 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    180 schema:name Proteins
    181 rdf:type schema:DefinedTerm
    182 Nc44f9a8f584544f6b80e583dd0931016 schema:name Springer Nature - SN SciGraph project
    183 rdf:type schema:Organization
    184 Nc91130fe562140d8b3b8376aba38e152 rdf:first sg:person.01122725670.71
    185 rdf:rest N5bf9d4549638445ca1509c845693596d
    186 Ncaecd0878a4a465880c2b766194c3670 schema:name doi
    187 schema:value 10.1038/ng1194-221
    188 rdf:type schema:PropertyValue
    189 Ncd18246ee95c4fdcb85534bd9c9dab21 rdf:first sg:person.0712612255.71
    190 rdf:rest N12fe0d517f0147fa908709863075a2ad
    191 Nd5622ad2de5544a7b92c676d189195cb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    192 schema:name Cloning, Molecular
    193 rdf:type schema:DefinedTerm
    194 Ne13763e84a1f422786343f15f6479fb7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    195 schema:name Middle Aged
    196 rdf:type schema:DefinedTerm
    197 Ne2fc1c528a684a38b51f7e8c92e0234f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    198 schema:name Machado-Joseph Disease
    199 rdf:type schema:DefinedTerm
    200 Ne3d4707d36e94694984db269adf97cc5 schema:affiliation grid-institutes:grid.258799.8
    201 schema:familyName Inoue
    202 schema:givenName Miho
    203 rdf:type schema:Person
    204 Neae9e5b16e0041449fdd9e5d933c21fe schema:issueNumber 3
    205 rdf:type schema:PublicationIssue
    206 Nf5cac599ddfa4d16be4ef58a70956eed rdf:first sg:person.01320436003.92
    207 rdf:rest Nac61d42c9e7d4e0189f9326c48523bea
    208 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    209 schema:name Biological Sciences
    210 rdf:type schema:DefinedTerm
    211 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    212 schema:name Genetics
    213 rdf:type schema:DefinedTerm
    214 sg:journal.1103138 schema:issn 1061-4036
    215 1546-1718
    216 schema:name Nature Genetics
    217 schema:publisher Springer Nature
    218 rdf:type schema:Periodical
    219 sg:person.01074747512.07 schema:affiliation grid-institutes:grid.258799.8
    220 schema:familyName Kimura
    221 schema:givenName Jun
    222 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01074747512.07
    223 rdf:type schema:Person
    224 sg:person.01122725670.71 schema:affiliation grid-institutes:grid.258799.8
    225 schema:familyName Narumiya
    226 schema:givenName Shuh
    227 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01122725670.71
    228 rdf:type schema:Person
    229 sg:person.01124753676.60 schema:affiliation grid-institutes:grid.258799.8
    230 schema:familyName Aizawa
    231 schema:givenName Megumi
    232 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01124753676.60
    233 rdf:type schema:Person
    234 sg:person.01230465775.34 schema:affiliation grid-institutes:grid.258799.8
    235 schema:familyName Nishimura
    236 schema:givenName Masaki
    237 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230465775.34
    238 rdf:type schema:Person
    239 sg:person.013177640161.16 schema:affiliation grid-institutes:grid.257022.0
    240 schema:familyName Katayama
    241 schema:givenName Sadao
    242 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013177640161.16
    243 rdf:type schema:Person
    244 sg:person.01320436003.92 schema:affiliation grid-institutes:grid.272458.e
    245 schema:familyName Taniwaki
    246 schema:givenName Masafumi
    247 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01320436003.92
    248 rdf:type schema:Person
    249 sg:person.016622614372.25 schema:affiliation grid-institutes:grid.258799.8
    250 schema:familyName Kawaguchi
    251 schema:givenName Yoshiya
    252 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016622614372.25
    253 rdf:type schema:Person
    254 sg:person.0712612255.71 schema:affiliation grid-institutes:grid.258799.8
    255 schema:familyName Akiguchi
    256 schema:givenName Ichiro
    257 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0712612255.71
    258 rdf:type schema:Person
    259 sg:person.07465006642.69 schema:affiliation grid-institutes:grid.257022.0
    260 schema:familyName Nakamura
    261 schema:givenName Shigenobu
    262 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07465006642.69
    263 rdf:type schema:Person
    264 sg:person.0767601751.11 schema:affiliation grid-institutes:grid.258799.8
    265 schema:familyName Kakizuka
    266 schema:givenName Akira
    267 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0767601751.11
    268 rdf:type schema:Person
    269 sg:person.0776453413.77 schema:affiliation grid-institutes:grid.257022.0
    270 schema:familyName Kawakami
    271 schema:givenName Hideshi
    272 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0776453413.77
    273 rdf:type schema:Person
    274 sg:pub.10.1038/352077a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039878884
    275 https://doi.org/10.1038/352077a0
    276 rdf:type schema:CreativeWork
    277 sg:pub.10.1038/355545a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030097475
    278 https://doi.org/10.1038/355545a0
    279 rdf:type schema:CreativeWork
    280 sg:pub.10.1038/355547a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025773144
    281 https://doi.org/10.1038/355547a0
    282 rdf:type schema:CreativeWork
    283 sg:pub.10.1038/355548a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039513377
    284 https://doi.org/10.1038/355548a0
    285 rdf:type schema:CreativeWork
    286 sg:pub.10.1038/ng0193-88 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004409179
    287 https://doi.org/10.1038/ng0193-88
    288 rdf:type schema:CreativeWork
    289 sg:pub.10.1038/ng0194-14 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020850683
    290 https://doi.org/10.1038/ng0194-14
    291 rdf:type schema:CreativeWork
    292 sg:pub.10.1038/ng0194-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037548529
    293 https://doi.org/10.1038/ng0194-9
    294 rdf:type schema:CreativeWork
    295 sg:pub.10.1038/ng0793-221 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024789892
    296 https://doi.org/10.1038/ng0793-221
    297 rdf:type schema:CreativeWork
    298 sg:pub.10.1038/ng0793-295 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013454954
    299 https://doi.org/10.1038/ng0793-295
    300 rdf:type schema:CreativeWork
    301 sg:pub.10.1038/ng0793-300 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051428769
    302 https://doi.org/10.1038/ng0793-300
    303 rdf:type schema:CreativeWork
    304 sg:pub.10.1038/ng0893-387 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048577444
    305 https://doi.org/10.1038/ng0893-387
    306 rdf:type schema:CreativeWork
    307 sg:pub.10.1038/ng0893-393 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018721600
    308 https://doi.org/10.1038/ng0893-393
    309 rdf:type schema:CreativeWork
    310 sg:pub.10.1038/ng0893-398 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001162353
    311 https://doi.org/10.1038/ng0893-398
    312 rdf:type schema:CreativeWork
    313 sg:pub.10.1038/ng1193-259 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046494495
    314 https://doi.org/10.1038/ng1193-259
    315 rdf:type schema:CreativeWork
    316 grid-institutes:grid.257022.0 schema:alternateName The 3rd Department of Internal Medicine, Hiroshima University School of Medicine, 734, Hiroshima, Japan
    317 schema:name The 3rd Department of Internal Medicine, Hiroshima University School of Medicine, 734, Hiroshima, Japan
    318 rdf:type schema:Organization
    319 grid-institutes:grid.258799.8 schema:alternateName Department of Neurology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan
    320 Department of Pharmacology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan
    321 schema:name Department of Neurology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan
    322 Department of Pharmacology, Kyoto University Faculty of Medicine, 606-01, Kyoto, Japan
    323 rdf:type schema:Organization
    324 grid-institutes:grid.272458.e schema:alternateName The 3rd Department of Internal Medicine, Kyoto Prefectural University of Medicine, 602, Kyoto, Japan
    325 schema:name The 3rd Department of Internal Medicine, Kyoto Prefectural University of Medicine, 602, Kyoto, Japan
    326 rdf:type schema:Organization
     




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


    ...