TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1546-0096-12-s1-o21

DOI

http://dx.doi.org/10.1186/1546-0096-12-s1-o21

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1022077867


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/2008/1114", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Paediatrics and Reproductive Medicine", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "National Human Genome Research Institute, Bethesda, USA", 
          "id": "http://www.grid.ac/institutes/grid.280128.1", 
          "name": [
            "National Human Genome Research Institute, Bethesda, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Aksentijevich", 
        "givenName": "Ivona", 
        "id": "sg:person.01236442445.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01236442445.41"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Human Genome Research Institute, Bethesda, USA", 
          "id": "http://www.grid.ac/institutes/grid.280128.1", 
          "name": [
            "National Human Genome Research Institute, Bethesda, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zhou", 
        "givenName": "Qing", 
        "id": "sg:person.01261527420.71", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01261527420.71"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Institute for Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA", 
          "id": "http://www.grid.ac/institutes/grid.420086.8", 
          "name": [
            "National Institute for Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Giannelou", 
        "givenName": "Angeliki", 
        "id": "sg:person.0604333624.45", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0604333624.45"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Motol, Prague, Czech Republic", 
          "id": "http://www.grid.ac/institutes/grid.412826.b", 
          "name": [
            "University Hospital Motol, Prague, Czech Republic"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sediva", 
        "givenName": "Anna", 
        "id": "sg:person.0701003335.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701003335.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Human Genome Research Institute, Bethesda, USA", 
          "id": "http://www.grid.ac/institutes/grid.280128.1", 
          "name": [
            "National Human Genome Research Institute, Bethesda, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Stone", 
        "givenName": "Deborah", 
        "id": "sg:person.0656213020.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0656213020.46"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Institutes of Health, Bethesda, USA", 
          "id": "http://www.grid.ac/institutes/grid.94365.3d", 
          "name": [
            "National Institutes of Health, Bethesda, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rosenzweig", 
        "givenName": "Sergio", 
        "id": "sg:person.01155047434.95", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01155047434.95"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Institute for Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA", 
          "id": "http://www.grid.ac/institutes/grid.420086.8", 
          "name": [
            "National Institute for Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Edwan", 
        "givenName": "Jehad", 
        "id": "sg:person.01271055761.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01271055761.09"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Institute for Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA", 
          "id": "http://www.grid.ac/institutes/grid.420086.8", 
          "name": [
            "National Institute for Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pelletier", 
        "givenName": "Martin", 
        "id": "sg:person.01146524573.53", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01146524573.53"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Human Genome Research Institute, Bethesda, USA", 
          "id": "http://www.grid.ac/institutes/grid.280128.1", 
          "name": [
            "National Human Genome Research Institute, Bethesda, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Monique", 
        "givenName": "Stoffels", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Motol, Prague, Czech Republic", 
          "id": "http://www.grid.ac/institutes/grid.412826.b", 
          "name": [
            "University Hospital Motol, Prague, Czech Republic"
          ], 
          "type": "Organization"
        }, 
        "familyName": "\u0160r\u00e1mkov\u00e1", 
        "givenName": "Lucie", 
        "id": "sg:person.01046575577.33", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01046575577.33"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Human Genome Research Institute, Bethesda, USA", 
          "id": "http://www.grid.ac/institutes/grid.280128.1", 
          "name": [
            "National Human Genome Research Institute, Bethesda, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ombrello", 
        "givenName": "Amanda", 
        "id": "sg:person.0610077620.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0610077620.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Institute of Allergy and Infectious Diseases, Bethesda, USA", 
          "id": "http://www.grid.ac/institutes/grid.419681.3", 
          "name": [
            "National Institute of Allergy and Infectious Diseases, Bethesda, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Barron", 
        "givenName": "Karyl", 
        "id": "sg:person.01355245211.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01355245211.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Human Genome Research Institute, Bethesda, USA", 
          "id": "http://www.grid.ac/institutes/grid.280128.1", 
          "name": [
            "National Human Genome Research Institute, Bethesda, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kastner", 
        "givenName": "Daniel", 
        "id": "sg:person.012247544157.63", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012247544157.63"
        ], 
        "type": "Person"
      }
    ], 
    "datePublished": "2014-09-17", 
    "datePublishedReg": "2014-09-17", 
    "genre": "article", 
    "id": "sg:pub.10.1186/1546-0096-12-s1-o21", 
    "inLanguage": "en", 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1035460", 
        "issn": [
          "1546-0096"
        ], 
        "name": "Pediatric Rheumatology", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "Suppl 1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "12"
      }
    ], 
    "keywords": [
      "recurrent fever", 
      "severe anemia", 
      "cell immunodeficiency", 
      "autoinflammatory diseases", 
      "missense mutations", 
      "fever", 
      "anemia", 
      "immunodeficiency", 
      "disease", 
      "mutations", 
      "TRNT1 missense mutations"
    ], 
    "name": "TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency", 
    "pagination": "o21-o21", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1022077867"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/1546-0096-12-s1-o21"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/1546-0096-12-s1-o21", 
      "https://app.dimensions.ai/details/publication/pub.1022077867"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2021-11-01T18:23", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20211101/entities/gbq_results/article/article_643.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1186/1546-0096-12-s1-o21"
  }
]
 

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.10.1186/1546-0096-12-s1-o21'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/1546-0096-12-s1-o21'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/1546-0096-12-s1-o21'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/1546-0096-12-s1-o21'


 

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

166 TRIPLES      20 PREDICATES      36 URIs      27 LITERALS      6 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/1546-0096-12-s1-o21 schema:about anzsrc-for:11
2 anzsrc-for:1103
3 anzsrc-for:1114
4 schema:author N05c2280187aa4b77912392a48573e386
5 schema:datePublished 2014-09-17
6 schema:datePublishedReg 2014-09-17
7 schema:genre article
8 schema:inLanguage en
9 schema:isAccessibleForFree true
10 schema:isPartOf N8bf9b255f4974195bb2439bb37be682a
11 Na2050cfa47dc4f1ba053d40efe328b8e
12 sg:journal.1035460
13 schema:keywords TRNT1 missense mutations
14 anemia
15 autoinflammatory diseases
16 cell immunodeficiency
17 disease
18 fever
19 immunodeficiency
20 missense mutations
21 mutations
22 recurrent fever
23 severe anemia
24 schema:name TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency
25 schema:pagination o21-o21
26 schema:productId Nb805ea2b369449779c6cf4e37d0be43f
27 Nd4593f63ecb54d1796ea6a0ef96dc7ab
28 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022077867
29 https://doi.org/10.1186/1546-0096-12-s1-o21
30 schema:sdDatePublished 2021-11-01T18:23
31 schema:sdLicense https://scigraph.springernature.com/explorer/license/
32 schema:sdPublisher N63a25cfc67594b7d8e07b4e2823d28e2
33 schema:url https://doi.org/10.1186/1546-0096-12-s1-o21
34 sgo:license sg:explorer/license/
35 sgo:sdDataset articles
36 rdf:type schema:ScholarlyArticle
37 N05c2280187aa4b77912392a48573e386 rdf:first sg:person.01236442445.41
38 rdf:rest Nce4743e16c734b9f8819abf967189293
39 N074224381a394eb5ba65c77e664a2cfe rdf:first sg:person.01355245211.48
40 rdf:rest N86dadaea2dce4bda8b7724e57a9efa62
41 N3d36417dc3ad4007a4859dddcd6137c5 rdf:first sg:person.01146524573.53
42 rdf:rest N4f9bad6d711c4d359a688b78cd117db2
43 N4f9bad6d711c4d359a688b78cd117db2 rdf:first Nba174d3f61b144668459d94e3a5e6e6a
44 rdf:rest Nba72a48e97de460db06ee61a0e6e9e94
45 N508da0f8102f4b48924e3d64961e76b0 rdf:first sg:person.0656213020.46
46 rdf:rest Ne8576b59386944d5a03dd14a35b650d5
47 N63a25cfc67594b7d8e07b4e2823d28e2 schema:name Springer Nature - SN SciGraph project
48 rdf:type schema:Organization
49 N7a6c8361d6024c60990dea6b4875b8fc rdf:first sg:person.0701003335.14
50 rdf:rest N508da0f8102f4b48924e3d64961e76b0
51 N86dadaea2dce4bda8b7724e57a9efa62 rdf:first sg:person.012247544157.63
52 rdf:rest rdf:nil
53 N8bf9b255f4974195bb2439bb37be682a schema:volumeNumber 12
54 rdf:type schema:PublicationVolume
55 N8ec4c8d63e1c43f9a93ae3b81d7496fc rdf:first sg:person.01271055761.09
56 rdf:rest N3d36417dc3ad4007a4859dddcd6137c5
57 N9ec7d6d583184f15bf7673f3a1794e52 rdf:first sg:person.0610077620.19
58 rdf:rest N074224381a394eb5ba65c77e664a2cfe
59 Na2050cfa47dc4f1ba053d40efe328b8e schema:issueNumber Suppl 1
60 rdf:type schema:PublicationIssue
61 Nb805ea2b369449779c6cf4e37d0be43f schema:name doi
62 schema:value 10.1186/1546-0096-12-s1-o21
63 rdf:type schema:PropertyValue
64 Nba174d3f61b144668459d94e3a5e6e6a schema:affiliation grid-institutes:grid.280128.1
65 schema:familyName Monique
66 schema:givenName Stoffels
67 rdf:type schema:Person
68 Nba72a48e97de460db06ee61a0e6e9e94 rdf:first sg:person.01046575577.33
69 rdf:rest N9ec7d6d583184f15bf7673f3a1794e52
70 Nce4743e16c734b9f8819abf967189293 rdf:first sg:person.01261527420.71
71 rdf:rest Nfdd0d82db12c4cc9b762c364dbee8839
72 Nd4593f63ecb54d1796ea6a0ef96dc7ab schema:name dimensions_id
73 schema:value pub.1022077867
74 rdf:type schema:PropertyValue
75 Ne8576b59386944d5a03dd14a35b650d5 rdf:first sg:person.01155047434.95
76 rdf:rest N8ec4c8d63e1c43f9a93ae3b81d7496fc
77 Nfdd0d82db12c4cc9b762c364dbee8839 rdf:first sg:person.0604333624.45
78 rdf:rest N7a6c8361d6024c60990dea6b4875b8fc
79 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
80 schema:name Medical and Health Sciences
81 rdf:type schema:DefinedTerm
82 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
83 schema:name Clinical Sciences
84 rdf:type schema:DefinedTerm
85 anzsrc-for:1114 schema:inDefinedTermSet anzsrc-for:
86 schema:name Paediatrics and Reproductive Medicine
87 rdf:type schema:DefinedTerm
88 sg:journal.1035460 schema:issn 1546-0096
89 schema:name Pediatric Rheumatology
90 schema:publisher Springer Nature
91 rdf:type schema:Periodical
92 sg:person.01046575577.33 schema:affiliation grid-institutes:grid.412826.b
93 schema:familyName Šrámková
94 schema:givenName Lucie
95 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01046575577.33
96 rdf:type schema:Person
97 sg:person.01146524573.53 schema:affiliation grid-institutes:grid.420086.8
98 schema:familyName Pelletier
99 schema:givenName Martin
100 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01146524573.53
101 rdf:type schema:Person
102 sg:person.01155047434.95 schema:affiliation grid-institutes:grid.94365.3d
103 schema:familyName Rosenzweig
104 schema:givenName Sergio
105 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01155047434.95
106 rdf:type schema:Person
107 sg:person.012247544157.63 schema:affiliation grid-institutes:grid.280128.1
108 schema:familyName Kastner
109 schema:givenName Daniel
110 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012247544157.63
111 rdf:type schema:Person
112 sg:person.01236442445.41 schema:affiliation grid-institutes:grid.280128.1
113 schema:familyName Aksentijevich
114 schema:givenName Ivona
115 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01236442445.41
116 rdf:type schema:Person
117 sg:person.01261527420.71 schema:affiliation grid-institutes:grid.280128.1
118 schema:familyName Zhou
119 schema:givenName Qing
120 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01261527420.71
121 rdf:type schema:Person
122 sg:person.01271055761.09 schema:affiliation grid-institutes:grid.420086.8
123 schema:familyName Edwan
124 schema:givenName Jehad
125 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01271055761.09
126 rdf:type schema:Person
127 sg:person.01355245211.48 schema:affiliation grid-institutes:grid.419681.3
128 schema:familyName Barron
129 schema:givenName Karyl
130 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01355245211.48
131 rdf:type schema:Person
132 sg:person.0604333624.45 schema:affiliation grid-institutes:grid.420086.8
133 schema:familyName Giannelou
134 schema:givenName Angeliki
135 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0604333624.45
136 rdf:type schema:Person
137 sg:person.0610077620.19 schema:affiliation grid-institutes:grid.280128.1
138 schema:familyName Ombrello
139 schema:givenName Amanda
140 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0610077620.19
141 rdf:type schema:Person
142 sg:person.0656213020.46 schema:affiliation grid-institutes:grid.280128.1
143 schema:familyName Stone
144 schema:givenName Deborah
145 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0656213020.46
146 rdf:type schema:Person
147 sg:person.0701003335.14 schema:affiliation grid-institutes:grid.412826.b
148 schema:familyName Sediva
149 schema:givenName Anna
150 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701003335.14
151 rdf:type schema:Person
152 grid-institutes:grid.280128.1 schema:alternateName National Human Genome Research Institute, Bethesda, USA
153 schema:name National Human Genome Research Institute, Bethesda, USA
154 rdf:type schema:Organization
155 grid-institutes:grid.412826.b schema:alternateName University Hospital Motol, Prague, Czech Republic
156 schema:name University Hospital Motol, Prague, Czech Republic
157 rdf:type schema:Organization
158 grid-institutes:grid.419681.3 schema:alternateName National Institute of Allergy and Infectious Diseases, Bethesda, USA
159 schema:name National Institute of Allergy and Infectious Diseases, Bethesda, USA
160 rdf:type schema:Organization
161 grid-institutes:grid.420086.8 schema:alternateName National Institute for Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA
162 schema:name National Institute for Arthritis and Musculoskeletal and Skin Diseases, Bethesda, USA
163 rdf:type schema:Organization
164 grid-institutes:grid.94365.3d schema:alternateName National Institutes of Health, Bethesda, USA
165 schema:name National Institutes of Health, Bethesda, USA
166 rdf:type schema:Organization
 




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


...