Cohesin embraces new phenotypes View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-11

AUTHORS

Ian D Krantz

ABSTRACT

A new study identifies homozygous missense mutations in SGOL1, which encodes a component of the cohesin complex, in a newly described disorder termed Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome. These findings implicate cohesin in the regulation of intrinsic cardiac and intestinal rhythm and further expand the growing group of disorders termed the cohesinopathies. More... »

PAGES

1157-1158

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.3123

DOI

http://dx.doi.org/10.1038/ng.3123

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1004977578

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25352100


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/2008/1102", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Cardiorespiratory Medicine and Haematology", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Abnormalities, Multiple", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Animals", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Arrhythmias, Cardiac", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cell Cycle Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomal Proteins, Non-Histone", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Intestinal Diseases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Muscle Contraction", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Signal Transduction", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Pennsylvania", 
          "id": "https://www.grid.ac/institutes/grid.25879.31", 
          "name": [
            "Ian D. Krantz is in the Division of Human Molecular Genetics, The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Krantz", 
        "givenName": "Ian D", 
        "id": "sg:person.0716100466.73", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0716100466.73"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1371/journal.pgen.1000650", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001657428"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature11316", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002930651", 
          "https://doi.org/10.1038/nature11316"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature09380", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004695178", 
          "https://doi.org/10.1038/nature09380"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature09380", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004695178", 
          "https://doi.org/10.1038/nature09380"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrc3743", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007227647", 
          "https://doi.org/10.1038/nrc3743"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/978-1-4939-0888-2_11", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009174090", 
          "https://doi.org/10.1007/978-1-4939-0888-2_11"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/35048077", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011473338", 
          "https://doi.org/10.1038/35048077"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/35048077", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011473338", 
          "https://doi.org/10.1038/35048077"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00418488", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016871031", 
          "https://doi.org/10.1007/bf00418488"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00418488", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016871031", 
          "https://doi.org/10.1007/bf00418488"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cub.2010.09.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020801853"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ceb.2013.02.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038878430"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ceb.2013.02.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038878430"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3113", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042448668", 
          "https://doi.org/10.1038/ng.3113"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature06634", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045728553", 
          "https://doi.org/10.1038/nature06634"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1083/jcb.123.6.1635", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047073476"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ncb2349", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047221444", 
          "https://doi.org/10.1038/ncb2349"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ncb2637", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052030362", 
          "https://doi.org/10.1038/ncb2637"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074470337", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2014-11", 
    "datePublishedReg": "2014-11-01", 
    "description": "A new study identifies homozygous missense mutations in SGOL1, which encodes a component of the cohesin complex, in a newly described disorder termed Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome. These findings implicate cohesin in the regulation of intrinsic cardiac and intestinal rhythm and further expand the growing group of disorders termed the cohesinopathies. ", 
    "genre": "non_research_article", 
    "id": "sg:pub.10.1038/ng.3123", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2436633", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "11", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "46"
      }
    ], 
    "name": "Cohesin embraces new phenotypes", 
    "pagination": "1157-1158", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "17b81d40ea66baeab68aba8362e200b7510ef9f2b0c36e96d8cc69352730d26a"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "25352100"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng.3123"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1004977578"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng.3123", 
      "https://app.dimensions.ai/details/publication/pub.1004977578"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T00:03", 
    "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/v90/0000000001_0000000264/records_8695_00000421.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/ng.3123"
  }
]
 

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/ng.3123'

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/ng.3123'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng.3123'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng.3123'


 

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

161 TRIPLES      21 PREDICATES      53 URIs      30 LITERALS      18 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng.3123 schema:about N01affb3ef42b4faf869aac69baeafc15
2 N09f1839a8dda400889fd06c0af4f3a98
3 N12c8b5bb5ae14c22b4b171ed7b730906
4 N73cb93ced9744b00a615c1d7bdfd074d
5 Nd9dcab400cd34ad7bad863797894e61d
6 Ndda79b74252e42a286f4e1d5842fd32c
7 Ne096fce471274000b27e464bf3561718
8 Nec1a85d8949b4fc0bc4a831075053e55
9 Nf75da6aa020d4cc1bd876263119769ee
10 anzsrc-for:11
11 anzsrc-for:1102
12 schema:author N14d074a4a00549bf92aeb89b5d0cabd4
13 schema:citation sg:pub.10.1007/978-1-4939-0888-2_11
14 sg:pub.10.1007/bf00418488
15 sg:pub.10.1038/35048077
16 sg:pub.10.1038/nature06634
17 sg:pub.10.1038/nature09380
18 sg:pub.10.1038/nature11316
19 sg:pub.10.1038/ncb2349
20 sg:pub.10.1038/ncb2637
21 sg:pub.10.1038/ng.3113
22 sg:pub.10.1038/nrc3743
23 https://app.dimensions.ai/details/publication/pub.1074470337
24 https://doi.org/10.1016/j.ceb.2013.02.003
25 https://doi.org/10.1016/j.cub.2010.09.006
26 https://doi.org/10.1083/jcb.123.6.1635
27 https://doi.org/10.1371/journal.pgen.1000650
28 schema:datePublished 2014-11
29 schema:datePublishedReg 2014-11-01
30 schema:description A new study identifies homozygous missense mutations in SGOL1, which encodes a component of the cohesin complex, in a newly described disorder termed Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome. These findings implicate cohesin in the regulation of intrinsic cardiac and intestinal rhythm and further expand the growing group of disorders termed the cohesinopathies.
31 schema:genre non_research_article
32 schema:inLanguage en
33 schema:isAccessibleForFree true
34 schema:isPartOf N02c3a95a68af4c3ab14f06dbb21b0d2a
35 Na1aaaf45bc3c49b981c3fee6ea10c79a
36 sg:journal.1103138
37 schema:name Cohesin embraces new phenotypes
38 schema:pagination 1157-1158
39 schema:productId N2b87303f7aa240cf87b964039ea33d68
40 N2d68793ab57f440185a4dc2935eff6d8
41 N4373acc90ed64250907c9d4ab26b704c
42 Nefe07cf5233744788bba7ab4fd84c2d7
43 Nf368b3d3123c43d68c23033e5d2b22b6
44 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004977578
45 https://doi.org/10.1038/ng.3123
46 schema:sdDatePublished 2019-04-11T00:03
47 schema:sdLicense https://scigraph.springernature.com/explorer/license/
48 schema:sdPublisher N8e1b9f18fd9a42ee93fd1707567175f0
49 schema:url http://www.nature.com/articles/ng.3123
50 sgo:license sg:explorer/license/
51 sgo:sdDataset articles
52 rdf:type schema:ScholarlyArticle
53 N01affb3ef42b4faf869aac69baeafc15 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
54 schema:name Intestinal Diseases
55 rdf:type schema:DefinedTerm
56 N02c3a95a68af4c3ab14f06dbb21b0d2a schema:volumeNumber 46
57 rdf:type schema:PublicationVolume
58 N09f1839a8dda400889fd06c0af4f3a98 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
59 schema:name Cell Cycle Proteins
60 rdf:type schema:DefinedTerm
61 N12c8b5bb5ae14c22b4b171ed7b730906 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
62 schema:name Signal Transduction
63 rdf:type schema:DefinedTerm
64 N14d074a4a00549bf92aeb89b5d0cabd4 rdf:first sg:person.0716100466.73
65 rdf:rest rdf:nil
66 N2b87303f7aa240cf87b964039ea33d68 schema:name nlm_unique_id
67 schema:value 9216904
68 rdf:type schema:PropertyValue
69 N2d68793ab57f440185a4dc2935eff6d8 schema:name dimensions_id
70 schema:value pub.1004977578
71 rdf:type schema:PropertyValue
72 N4373acc90ed64250907c9d4ab26b704c schema:name doi
73 schema:value 10.1038/ng.3123
74 rdf:type schema:PropertyValue
75 N73cb93ced9744b00a615c1d7bdfd074d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
76 schema:name Arrhythmias, Cardiac
77 rdf:type schema:DefinedTerm
78 N8e1b9f18fd9a42ee93fd1707567175f0 schema:name Springer Nature - SN SciGraph project
79 rdf:type schema:Organization
80 Na1aaaf45bc3c49b981c3fee6ea10c79a schema:issueNumber 11
81 rdf:type schema:PublicationIssue
82 Nd9dcab400cd34ad7bad863797894e61d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
83 schema:name Humans
84 rdf:type schema:DefinedTerm
85 Ndda79b74252e42a286f4e1d5842fd32c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
86 schema:name Muscle Contraction
87 rdf:type schema:DefinedTerm
88 Ne096fce471274000b27e464bf3561718 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
89 schema:name Animals
90 rdf:type schema:DefinedTerm
91 Nec1a85d8949b4fc0bc4a831075053e55 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
92 schema:name Abnormalities, Multiple
93 rdf:type schema:DefinedTerm
94 Nefe07cf5233744788bba7ab4fd84c2d7 schema:name readcube_id
95 schema:value 17b81d40ea66baeab68aba8362e200b7510ef9f2b0c36e96d8cc69352730d26a
96 rdf:type schema:PropertyValue
97 Nf368b3d3123c43d68c23033e5d2b22b6 schema:name pubmed_id
98 schema:value 25352100
99 rdf:type schema:PropertyValue
100 Nf75da6aa020d4cc1bd876263119769ee schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
101 schema:name Chromosomal Proteins, Non-Histone
102 rdf:type schema:DefinedTerm
103 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
104 schema:name Medical and Health Sciences
105 rdf:type schema:DefinedTerm
106 anzsrc-for:1102 schema:inDefinedTermSet anzsrc-for:
107 schema:name Cardiorespiratory Medicine and Haematology
108 rdf:type schema:DefinedTerm
109 sg:grant.2436633 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.3123
110 rdf:type schema:MonetaryGrant
111 sg:journal.1103138 schema:issn 1061-4036
112 1546-1718
113 schema:name Nature Genetics
114 rdf:type schema:Periodical
115 sg:person.0716100466.73 schema:affiliation https://www.grid.ac/institutes/grid.25879.31
116 schema:familyName Krantz
117 schema:givenName Ian D
118 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0716100466.73
119 rdf:type schema:Person
120 sg:pub.10.1007/978-1-4939-0888-2_11 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009174090
121 https://doi.org/10.1007/978-1-4939-0888-2_11
122 rdf:type schema:CreativeWork
123 sg:pub.10.1007/bf00418488 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016871031
124 https://doi.org/10.1007/bf00418488
125 rdf:type schema:CreativeWork
126 sg:pub.10.1038/35048077 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011473338
127 https://doi.org/10.1038/35048077
128 rdf:type schema:CreativeWork
129 sg:pub.10.1038/nature06634 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045728553
130 https://doi.org/10.1038/nature06634
131 rdf:type schema:CreativeWork
132 sg:pub.10.1038/nature09380 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004695178
133 https://doi.org/10.1038/nature09380
134 rdf:type schema:CreativeWork
135 sg:pub.10.1038/nature11316 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002930651
136 https://doi.org/10.1038/nature11316
137 rdf:type schema:CreativeWork
138 sg:pub.10.1038/ncb2349 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047221444
139 https://doi.org/10.1038/ncb2349
140 rdf:type schema:CreativeWork
141 sg:pub.10.1038/ncb2637 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052030362
142 https://doi.org/10.1038/ncb2637
143 rdf:type schema:CreativeWork
144 sg:pub.10.1038/ng.3113 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042448668
145 https://doi.org/10.1038/ng.3113
146 rdf:type schema:CreativeWork
147 sg:pub.10.1038/nrc3743 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007227647
148 https://doi.org/10.1038/nrc3743
149 rdf:type schema:CreativeWork
150 https://app.dimensions.ai/details/publication/pub.1074470337 schema:CreativeWork
151 https://doi.org/10.1016/j.ceb.2013.02.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038878430
152 rdf:type schema:CreativeWork
153 https://doi.org/10.1016/j.cub.2010.09.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020801853
154 rdf:type schema:CreativeWork
155 https://doi.org/10.1083/jcb.123.6.1635 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047073476
156 rdf:type schema:CreativeWork
157 https://doi.org/10.1371/journal.pgen.1000650 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001657428
158 rdf:type schema:CreativeWork
159 https://www.grid.ac/institutes/grid.25879.31 schema:alternateName University of Pennsylvania
160 schema:name Ian D. Krantz is in the Division of Human Molecular Genetics, The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
161 rdf:type schema:Organization
 




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


...