Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG2 View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13075-019-2007-7

DOI

http://dx.doi.org/10.1186/s13075-019-2007-7

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1122142867

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/31661014


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/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1107", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Immunology", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1117", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Public Health and Health Services", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "ATP Binding Cassette Transporter, Subfamily G, Member 2", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Variation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gout", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hyperuricemia", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Neoplasm Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan", 
          "id": "http://www.grid.ac/institutes/grid.412708.8", 
          "name": [
            "Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Toyoda", 
        "givenName": "Yu", 
        "id": "sg:person.015351023711.29", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015351023711.29"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic", 
          "id": "http://www.grid.ac/institutes/grid.4491.8", 
          "name": [
            "Institute of Rheumatology, Na Slupi 4, 128 50, Prague 2, Czech Republic", 
            "Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pavelcov\u00e1", 
        "givenName": "Kate\u0159ina", 
        "id": "sg:person.012466563345.89", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012466563345.89"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic", 
          "id": "http://www.grid.ac/institutes/grid.4491.8", 
          "name": [
            "Institute of Rheumatology, Na Slupi 4, 128 50, Prague 2, Czech Republic", 
            "Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Klein", 
        "givenName": "Martin", 
        "id": "sg:person.01337134701.75", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01337134701.75"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan", 
          "id": "http://www.grid.ac/institutes/grid.412708.8", 
          "name": [
            "Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Suzuki", 
        "givenName": "Hiroshi", 
        "id": "sg:person.012555337103.96", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012555337103.96"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan", 
          "id": "http://www.grid.ac/institutes/grid.412708.8", 
          "name": [
            "Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Takada", 
        "givenName": "Tappei", 
        "id": "sg:person.01251420706.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01251420706.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic", 
          "id": "http://www.grid.ac/institutes/grid.411798.2", 
          "name": [
            "Institute of Rheumatology, Na Slupi 4, 128 50, Prague 2, Czech Republic", 
            "Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Stiburkova", 
        "givenName": "Blanka", 
        "id": "sg:person.0607776546.82", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0607776546.82"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1186/s13075-019-1860-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1112898340", 
          "https://doi.org/10.1186/s13075-019-1860-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/s41586-018-0680-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1108057873", 
          "https://doi.org/10.1038/s41586-018-0680-3"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2019-10-28", 
    "datePublishedReg": "2019-10-28", 
    "genre": "article", 
    "id": "sg:pub.10.1186/s13075-019-2007-7", 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.5862680", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.8419802", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.5900120", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.6895372", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.7852981", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1297499", 
        "issn": [
          "1478-6354", 
          "1478-6362"
        ], 
        "name": "Arthritis Research & Therapy", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "21"
      }
    ], 
    "keywords": [
      "early-onset hyperuricemia", 
      "dysfunctional variants", 
      "transporter ABCG2", 
      "hyperuricemia", 
      "gout", 
      "ABCG2", 
      "variants"
    ], 
    "name": "Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG2", 
    "pagination": "219", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1122142867"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s13075-019-2007-7"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "31661014"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s13075-019-2007-7", 
      "https://app.dimensions.ai/details/publication/pub.1122142867"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-09-02T16:03", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20220902/entities/gbq_results/article/article_819.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1186/s13075-019-2007-7"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/s13075-019-2007-7'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s13075-019-2007-7'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13075-019-2007-7'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13075-019-2007-7'


 

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

172 TRIPLES      20 PREDICATES      44 URIs      32 LITERALS      16 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s13075-019-2007-7 schema:about N0a968f9e3f674959a839e48e54d67094
2 N5e63285d0c454f289295becc768caa8c
3 N6b8c75cd21ff4a018537cba83e8edfff
4 N753e11ab9bfb417ca9114bc8f985529c
5 N79df35fd4972435bb6becbbc7af8f680
6 N7d5d3ce5b8ca4dc3887816569982cae9
7 Nb9ac83515dc34907adda91e5d33e178f
8 Nf8281284998a403a86558b88f31492a9
9 Nfa74293d534e42cba036eba8efd0a3e6
10 anzsrc-for:11
11 anzsrc-for:1103
12 anzsrc-for:1107
13 anzsrc-for:1117
14 schema:author N43be5c2fc22b40adbe908c99a271352e
15 schema:citation sg:pub.10.1038/s41586-018-0680-3
16 sg:pub.10.1186/s13075-019-1860-8
17 schema:datePublished 2019-10-28
18 schema:datePublishedReg 2019-10-28
19 schema:genre article
20 schema:isAccessibleForFree true
21 schema:isPartOf Nd434451f078c4c1586d575ba96ac0715
22 Ned732b50c3ad4773bb574d8f972225c5
23 sg:journal.1297499
24 schema:keywords ABCG2
25 dysfunctional variants
26 early-onset hyperuricemia
27 gout
28 hyperuricemia
29 transporter ABCG2
30 variants
31 schema:name Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG2
32 schema:pagination 219
33 schema:productId N022649a974974979865cd80ac5a82ab7
34 N2eb94224045f49ae87d88382a6436f0d
35 N35c695ddc83844519f95b9d83c193cd6
36 schema:sameAs https://app.dimensions.ai/details/publication/pub.1122142867
37 https://doi.org/10.1186/s13075-019-2007-7
38 schema:sdDatePublished 2022-09-02T16:03
39 schema:sdLicense https://scigraph.springernature.com/explorer/license/
40 schema:sdPublisher N713be1688b7f4555b9925dffcc58e66c
41 schema:url https://doi.org/10.1186/s13075-019-2007-7
42 sgo:license sg:explorer/license/
43 sgo:sdDataset articles
44 rdf:type schema:ScholarlyArticle
45 N022649a974974979865cd80ac5a82ab7 schema:name doi
46 schema:value 10.1186/s13075-019-2007-7
47 rdf:type schema:PropertyValue
48 N034a904d0a6f45cc850e3532dd7b2eb0 rdf:first sg:person.01337134701.75
49 rdf:rest N7133ed9719da4f048abfe124b9bf5da6
50 N0a968f9e3f674959a839e48e54d67094 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
51 schema:name Pedigree
52 rdf:type schema:DefinedTerm
53 N0e3a03f738a64baeabec36e63eb99c43 rdf:first sg:person.012466563345.89
54 rdf:rest N034a904d0a6f45cc850e3532dd7b2eb0
55 N2eb94224045f49ae87d88382a6436f0d schema:name dimensions_id
56 schema:value pub.1122142867
57 rdf:type schema:PropertyValue
58 N35c695ddc83844519f95b9d83c193cd6 schema:name pubmed_id
59 schema:value 31661014
60 rdf:type schema:PropertyValue
61 N43be5c2fc22b40adbe908c99a271352e rdf:first sg:person.015351023711.29
62 rdf:rest N0e3a03f738a64baeabec36e63eb99c43
63 N5e63285d0c454f289295becc768caa8c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
64 schema:name Genetic Variation
65 rdf:type schema:DefinedTerm
66 N6b8c75cd21ff4a018537cba83e8edfff schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
67 schema:name Humans
68 rdf:type schema:DefinedTerm
69 N7133ed9719da4f048abfe124b9bf5da6 rdf:first sg:person.012555337103.96
70 rdf:rest N78eabe6003b44ce58dcc09f33cb70edc
71 N713be1688b7f4555b9925dffcc58e66c schema:name Springer Nature - SN SciGraph project
72 rdf:type schema:Organization
73 N753e11ab9bfb417ca9114bc8f985529c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
74 schema:name Neoplasm Proteins
75 rdf:type schema:DefinedTerm
76 N78eabe6003b44ce58dcc09f33cb70edc rdf:first sg:person.01251420706.49
77 rdf:rest Nbbe0e08538e0433f853ed4f81f60eae3
78 N79df35fd4972435bb6becbbc7af8f680 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
79 schema:name Hyperuricemia
80 rdf:type schema:DefinedTerm
81 N7d5d3ce5b8ca4dc3887816569982cae9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
82 schema:name Male
83 rdf:type schema:DefinedTerm
84 Nb9ac83515dc34907adda91e5d33e178f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
85 schema:name ATP Binding Cassette Transporter, Subfamily G, Member 2
86 rdf:type schema:DefinedTerm
87 Nbbe0e08538e0433f853ed4f81f60eae3 rdf:first sg:person.0607776546.82
88 rdf:rest rdf:nil
89 Nd434451f078c4c1586d575ba96ac0715 schema:issueNumber 1
90 rdf:type schema:PublicationIssue
91 Ned732b50c3ad4773bb574d8f972225c5 schema:volumeNumber 21
92 rdf:type schema:PublicationVolume
93 Nf8281284998a403a86558b88f31492a9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
94 schema:name Gout
95 rdf:type schema:DefinedTerm
96 Nfa74293d534e42cba036eba8efd0a3e6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
97 schema:name Female
98 rdf:type schema:DefinedTerm
99 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
100 schema:name Medical and Health Sciences
101 rdf:type schema:DefinedTerm
102 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
103 schema:name Clinical Sciences
104 rdf:type schema:DefinedTerm
105 anzsrc-for:1107 schema:inDefinedTermSet anzsrc-for:
106 schema:name Immunology
107 rdf:type schema:DefinedTerm
108 anzsrc-for:1117 schema:inDefinedTermSet anzsrc-for:
109 schema:name Public Health and Health Services
110 rdf:type schema:DefinedTerm
111 sg:grant.5862680 http://pending.schema.org/fundedItem sg:pub.10.1186/s13075-019-2007-7
112 rdf:type schema:MonetaryGrant
113 sg:grant.5900120 http://pending.schema.org/fundedItem sg:pub.10.1186/s13075-019-2007-7
114 rdf:type schema:MonetaryGrant
115 sg:grant.6895372 http://pending.schema.org/fundedItem sg:pub.10.1186/s13075-019-2007-7
116 rdf:type schema:MonetaryGrant
117 sg:grant.7852981 http://pending.schema.org/fundedItem sg:pub.10.1186/s13075-019-2007-7
118 rdf:type schema:MonetaryGrant
119 sg:grant.8419802 http://pending.schema.org/fundedItem sg:pub.10.1186/s13075-019-2007-7
120 rdf:type schema:MonetaryGrant
121 sg:journal.1297499 schema:issn 1478-6354
122 1478-6362
123 schema:name Arthritis Research & Therapy
124 schema:publisher Springer Nature
125 rdf:type schema:Periodical
126 sg:person.012466563345.89 schema:affiliation grid-institutes:grid.4491.8
127 schema:familyName Pavelcová
128 schema:givenName Kateřina
129 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012466563345.89
130 rdf:type schema:Person
131 sg:person.01251420706.49 schema:affiliation grid-institutes:grid.412708.8
132 schema:familyName Takada
133 schema:givenName Tappei
134 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01251420706.49
135 rdf:type schema:Person
136 sg:person.012555337103.96 schema:affiliation grid-institutes:grid.412708.8
137 schema:familyName Suzuki
138 schema:givenName Hiroshi
139 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012555337103.96
140 rdf:type schema:Person
141 sg:person.01337134701.75 schema:affiliation grid-institutes:grid.4491.8
142 schema:familyName Klein
143 schema:givenName Martin
144 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01337134701.75
145 rdf:type schema:Person
146 sg:person.015351023711.29 schema:affiliation grid-institutes:grid.412708.8
147 schema:familyName Toyoda
148 schema:givenName Yu
149 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015351023711.29
150 rdf:type schema:Person
151 sg:person.0607776546.82 schema:affiliation grid-institutes:grid.411798.2
152 schema:familyName Stiburkova
153 schema:givenName Blanka
154 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0607776546.82
155 rdf:type schema:Person
156 sg:pub.10.1038/s41586-018-0680-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1108057873
157 https://doi.org/10.1038/s41586-018-0680-3
158 rdf:type schema:CreativeWork
159 sg:pub.10.1186/s13075-019-1860-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1112898340
160 https://doi.org/10.1186/s13075-019-1860-8
161 rdf:type schema:CreativeWork
162 grid-institutes:grid.411798.2 schema:alternateName Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic
163 schema:name Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic
164 Institute of Rheumatology, Na Slupi 4, 128 50, Prague 2, Czech Republic
165 rdf:type schema:Organization
166 grid-institutes:grid.412708.8 schema:alternateName Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan
167 schema:name Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan
168 rdf:type schema:Organization
169 grid-institutes:grid.4491.8 schema:alternateName Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic
170 schema:name Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic
171 Institute of Rheumatology, Na Slupi 4, 128 50, Prague 2, Czech Republic
172 rdf:type schema:Organization
 




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


...