The in vitro functional analysis of single-nucleotide polymorphisms associated with growth hormone (GH) response in children with GH deficiency View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-04

AUTHORS

Chiara De Leonibus, Philip Murray, Terence Garner, Daniel Hanson, Peter Clayton, Adam Stevens

ABSTRACT

Response to recombinant human growth hormone (r-hGH) in the first year of therapy has been associated with single-nucleotide polymorphisms (SNPs) in children with GH deficiency (GHD). Associated SNPs were screened for regulatory function using a combination of in silico techniques. Four SNPs in regulatory sequences were selected for the analysis of in vitro transcriptional activity (TA). There was an additive effect of the alleles in the four genes associated with good growth response. For rs3110697 within IGFBP3, rs1045992 in CYP19A1 and rs2888586 in SOS1, the variant associated with better growth response showed higher TA with r-hGH treatment. For rs1024531 in GRB10, a negative regulator of IGF-I signalling and growth, the variant associated with better growth response had a significantly lower TA on r-hGH stimulation. These results indicate that specific SNP variants have effects on TA that provide a rationale for their clinical impact on growth response to r-hGH therapy. More... »

PAGES

200-210

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41397-018-0026-4

DOI

http://dx.doi.org/10.1038/s41397-018-0026-4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1104301914

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29855605


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/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Manchester", 
          "id": "https://www.grid.ac/institutes/grid.5379.8", 
          "name": [
            "Division of Developmental Biology & Medicine, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "De Leonibus", 
        "givenName": "Chiara", 
        "id": "sg:person.01112544235.27", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112544235.27"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Royal Manchester Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.415910.8", 
          "name": [
            "Division of Developmental Biology & Medicine, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, UK", 
            "Royal Manchester Children\u2019s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre (MAHSC), Manchester, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Murray", 
        "givenName": "Philip", 
        "id": "sg:person.01154730046.60", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154730046.60"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Manchester", 
          "id": "https://www.grid.ac/institutes/grid.5379.8", 
          "name": [
            "Division of Developmental Biology & Medicine, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Garner", 
        "givenName": "Terence", 
        "id": "sg:person.016607464023.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016607464023.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Manchester", 
          "id": "https://www.grid.ac/institutes/grid.5379.8", 
          "name": [
            "Division of Developmental Biology & Medicine, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hanson", 
        "givenName": "Daniel", 
        "id": "sg:person.01260537504.01", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01260537504.01"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Royal Manchester Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.415910.8", 
          "name": [
            "Division of Developmental Biology & Medicine, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, UK", 
            "Royal Manchester Children\u2019s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre (MAHSC), Manchester, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Clayton", 
        "givenName": "Peter", 
        "id": "sg:person.013660606272.91", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013660606272.91"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Manchester", 
          "id": "https://www.grid.ac/institutes/grid.5379.8", 
          "name": [
            "Division of Developmental Biology & Medicine, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Stevens", 
        "givenName": "Adam", 
        "id": "sg:person.01144311104.54", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144311104.54"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/j.ejmg.2012.09.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003703289"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gks1172", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003865873"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2265.2009.03681.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004466765"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2265.2009.03681.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004466765"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000271913", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005987941"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3097", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006357119", 
          "https://doi.org/10.1038/ng.3097"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/excr.1997.3789", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006367319"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1530/eje-13-0069", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008540336"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/tpj.2015.67", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008615577", 
          "https://doi.org/10.1038/tpj.2015.67"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/tpj.2011.13", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009172990", 
          "https://doi.org/10.1038/tpj.2011.13"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf03346720", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010138591", 
          "https://doi.org/10.1007/bf03346720"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0030153", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012819971"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1379", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013129277", 
          "https://doi.org/10.1038/ng1379"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1379", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013129277", 
          "https://doi.org/10.1038/ng1379"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1530/eje-07-0631", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017116875"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000339468", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017929164"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2265.2007.03140.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021754599"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1530/eje-16-0357", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021855747"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gkt1168", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023238985"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1742-4658.2006.05347.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028747777"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pbio.1001046", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031377769"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10142-008-0086-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037630560", 
          "https://doi.org/10.1007/s10142-008-0086-7"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10142-008-0086-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037630560", 
          "https://doi.org/10.1007/s10142-008-0086-7"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature09410", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037714920", 
          "https://doi.org/10.1038/nature09410"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature09410", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037714920", 
          "https://doi.org/10.1038/nature09410"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2013.274", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038144621", 
          "https://doi.org/10.1038/ejhg.2013.274"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1530/eje-15-0474", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038778330"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000103005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043385886"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2265.2007.03090.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043536437"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/aje/kwr408", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046703297"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1128/mcb.06170-11", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049983620"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s11033-014-3046-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052891638", 
          "https://doi.org/10.1007/s11033-014-3046-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s11033-014-3046-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052891638", 
          "https://doi.org/10.1007/s11033-014-3046-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/tpj.2013.14", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052943321", 
          "https://doi.org/10.1038/tpj.2013.14"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gkw1134", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059932075"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gkw1134", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059932075"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gkw1134", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059932075"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.2005-2005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064288814"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.2007-1182", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064290081"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.2008-1608", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064290902"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.2009-0425", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064291287"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.2014-1744", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064295132"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.86.3.1274", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064301792"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jcem.84.4.5634", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064322589"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1078547853", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1083124263", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2019-04", 
    "datePublishedReg": "2019-04-01", 
    "description": "Response to recombinant human growth hormone (r-hGH) in the first year of therapy has been associated with single-nucleotide polymorphisms (SNPs) in children with GH deficiency (GHD). Associated SNPs were screened for regulatory function using a combination of in silico techniques. Four SNPs in regulatory sequences were selected for the analysis of in vitro transcriptional activity (TA). There was an additive effect of the alleles in the four genes associated with good growth response. For rs3110697 within IGFBP3, rs1045992 in CYP19A1 and rs2888586 in SOS1, the variant associated with better growth response showed higher TA with r-hGH treatment. For rs1024531 in GRB10, a negative regulator of IGF-I signalling and growth, the variant associated with better growth response had a significantly lower TA on r-hGH stimulation. These results indicate that specific SNP variants have effects on TA that provide a rationale for their clinical impact on growth response to r-hGH therapy.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/s41397-018-0026-4", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1027238", 
        "issn": [
          "1470-269X", 
          "1473-1150"
        ], 
        "name": "The Pharmacogenomics Journal", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "2", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "19"
      }
    ], 
    "name": "The in vitro functional analysis of single-nucleotide polymorphisms associated with growth hormone (GH) response in children with GH deficiency", 
    "pagination": "200-210", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "c004b5d2d183106e68e4095e1364cbcba9d96c9e689e918d3a5158c7bbb9cf2d"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "29855605"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101083949"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/s41397-018-0026-4"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1104301914"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/s41397-018-0026-4", 
      "https://app.dimensions.ai/details/publication/pub.1104301914"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T14:26", 
    "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/v90/0000000373_0000000373/records_13069_00000002.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/s41397-018-0026-4"
  }
]
 

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/s41397-018-0026-4'

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/s41397-018-0026-4'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41397-018-0026-4'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41397-018-0026-4'


 

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

233 TRIPLES      21 PREDICATES      68 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/s41397-018-0026-4 schema:about anzsrc-for:11
2 anzsrc-for:1103
3 schema:author N94411b6576964662a417f4a4f2271b39
4 schema:citation sg:pub.10.1007/bf03346720
5 sg:pub.10.1007/s10142-008-0086-7
6 sg:pub.10.1007/s11033-014-3046-4
7 sg:pub.10.1038/ejhg.2013.274
8 sg:pub.10.1038/nature09410
9 sg:pub.10.1038/ng.3097
10 sg:pub.10.1038/ng1379
11 sg:pub.10.1038/tpj.2011.13
12 sg:pub.10.1038/tpj.2013.14
13 sg:pub.10.1038/tpj.2015.67
14 https://app.dimensions.ai/details/publication/pub.1078547853
15 https://app.dimensions.ai/details/publication/pub.1083124263
16 https://doi.org/10.1006/excr.1997.3789
17 https://doi.org/10.1016/j.ejmg.2012.09.003
18 https://doi.org/10.1093/aje/kwr408
19 https://doi.org/10.1093/nar/gks1172
20 https://doi.org/10.1093/nar/gkt1168
21 https://doi.org/10.1093/nar/gkw1134
22 https://doi.org/10.1111/j.1365-2265.2007.03090.x
23 https://doi.org/10.1111/j.1365-2265.2007.03140.x
24 https://doi.org/10.1111/j.1365-2265.2009.03681.x
25 https://doi.org/10.1111/j.1742-4658.2006.05347.x
26 https://doi.org/10.1128/mcb.06170-11
27 https://doi.org/10.1159/000103005
28 https://doi.org/10.1159/000271913
29 https://doi.org/10.1159/000339468
30 https://doi.org/10.1210/jc.2005-2005
31 https://doi.org/10.1210/jc.2007-1182
32 https://doi.org/10.1210/jc.2008-1608
33 https://doi.org/10.1210/jc.2009-0425
34 https://doi.org/10.1210/jc.2014-1744
35 https://doi.org/10.1210/jc.86.3.1274
36 https://doi.org/10.1210/jcem.84.4.5634
37 https://doi.org/10.1371/journal.pbio.1001046
38 https://doi.org/10.1371/journal.pone.0030153
39 https://doi.org/10.1530/eje-07-0631
40 https://doi.org/10.1530/eje-13-0069
41 https://doi.org/10.1530/eje-15-0474
42 https://doi.org/10.1530/eje-16-0357
43 schema:datePublished 2019-04
44 schema:datePublishedReg 2019-04-01
45 schema:description Response to recombinant human growth hormone (r-hGH) in the first year of therapy has been associated with single-nucleotide polymorphisms (SNPs) in children with GH deficiency (GHD). Associated SNPs were screened for regulatory function using a combination of in silico techniques. Four SNPs in regulatory sequences were selected for the analysis of in vitro transcriptional activity (TA). There was an additive effect of the alleles in the four genes associated with good growth response. For rs3110697 within IGFBP3, rs1045992 in CYP19A1 and rs2888586 in SOS1, the variant associated with better growth response showed higher TA with r-hGH treatment. For rs1024531 in GRB10, a negative regulator of IGF-I signalling and growth, the variant associated with better growth response had a significantly lower TA on r-hGH stimulation. These results indicate that specific SNP variants have effects on TA that provide a rationale for their clinical impact on growth response to r-hGH therapy.
46 schema:genre research_article
47 schema:inLanguage en
48 schema:isAccessibleForFree true
49 schema:isPartOf N013a765afb70481186156cdba85465a9
50 Nb1e0326e7cfe44089b5272b5227c9700
51 sg:journal.1027238
52 schema:name The in vitro functional analysis of single-nucleotide polymorphisms associated with growth hormone (GH) response in children with GH deficiency
53 schema:pagination 200-210
54 schema:productId N82640a46f28949caa0bfec9ae5fc9c8e
55 N98a64dedbf1448269b16c9c40eb6baf0
56 N9cc24c7a8c79420dbaac66342de87a7a
57 Na5c82db64d6c455888d964089a72efc9
58 Na5d97ab438d54872891742a6b25e5fec
59 schema:sameAs https://app.dimensions.ai/details/publication/pub.1104301914
60 https://doi.org/10.1038/s41397-018-0026-4
61 schema:sdDatePublished 2019-04-11T14:26
62 schema:sdLicense https://scigraph.springernature.com/explorer/license/
63 schema:sdPublisher N61c62a7b79984617b6258646871b437a
64 schema:url https://www.nature.com/articles/s41397-018-0026-4
65 sgo:license sg:explorer/license/
66 sgo:sdDataset articles
67 rdf:type schema:ScholarlyArticle
68 N013a765afb70481186156cdba85465a9 schema:issueNumber 2
69 rdf:type schema:PublicationIssue
70 N12b76b49db36401d96a5f56e46f2266d rdf:first sg:person.01154730046.60
71 rdf:rest Nf502bfdaeeb349ba84541dad5e93cfaf
72 N1c87f079e4f8418a8c9daf710358cb1f rdf:first sg:person.01260537504.01
73 rdf:rest Ndda43fafe4a3477cb65d83e38c79460f
74 N61c62a7b79984617b6258646871b437a schema:name Springer Nature - SN SciGraph project
75 rdf:type schema:Organization
76 N82640a46f28949caa0bfec9ae5fc9c8e schema:name pubmed_id
77 schema:value 29855605
78 rdf:type schema:PropertyValue
79 N94411b6576964662a417f4a4f2271b39 rdf:first sg:person.01112544235.27
80 rdf:rest N12b76b49db36401d96a5f56e46f2266d
81 N98a64dedbf1448269b16c9c40eb6baf0 schema:name doi
82 schema:value 10.1038/s41397-018-0026-4
83 rdf:type schema:PropertyValue
84 N9cc24c7a8c79420dbaac66342de87a7a schema:name nlm_unique_id
85 schema:value 101083949
86 rdf:type schema:PropertyValue
87 Na5c82db64d6c455888d964089a72efc9 schema:name readcube_id
88 schema:value c004b5d2d183106e68e4095e1364cbcba9d96c9e689e918d3a5158c7bbb9cf2d
89 rdf:type schema:PropertyValue
90 Na5d97ab438d54872891742a6b25e5fec schema:name dimensions_id
91 schema:value pub.1104301914
92 rdf:type schema:PropertyValue
93 Na875591c71e946a9959548205b61ebda rdf:first sg:person.01144311104.54
94 rdf:rest rdf:nil
95 Nb1e0326e7cfe44089b5272b5227c9700 schema:volumeNumber 19
96 rdf:type schema:PublicationVolume
97 Ndda43fafe4a3477cb65d83e38c79460f rdf:first sg:person.013660606272.91
98 rdf:rest Na875591c71e946a9959548205b61ebda
99 Nf502bfdaeeb349ba84541dad5e93cfaf rdf:first sg:person.016607464023.25
100 rdf:rest N1c87f079e4f8418a8c9daf710358cb1f
101 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
102 schema:name Medical and Health Sciences
103 rdf:type schema:DefinedTerm
104 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
105 schema:name Clinical Sciences
106 rdf:type schema:DefinedTerm
107 sg:journal.1027238 schema:issn 1470-269X
108 1473-1150
109 schema:name The Pharmacogenomics Journal
110 rdf:type schema:Periodical
111 sg:person.01112544235.27 schema:affiliation https://www.grid.ac/institutes/grid.5379.8
112 schema:familyName De Leonibus
113 schema:givenName Chiara
114 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112544235.27
115 rdf:type schema:Person
116 sg:person.01144311104.54 schema:affiliation https://www.grid.ac/institutes/grid.5379.8
117 schema:familyName Stevens
118 schema:givenName Adam
119 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144311104.54
120 rdf:type schema:Person
121 sg:person.01154730046.60 schema:affiliation https://www.grid.ac/institutes/grid.415910.8
122 schema:familyName Murray
123 schema:givenName Philip
124 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154730046.60
125 rdf:type schema:Person
126 sg:person.01260537504.01 schema:affiliation https://www.grid.ac/institutes/grid.5379.8
127 schema:familyName Hanson
128 schema:givenName Daniel
129 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01260537504.01
130 rdf:type schema:Person
131 sg:person.013660606272.91 schema:affiliation https://www.grid.ac/institutes/grid.415910.8
132 schema:familyName Clayton
133 schema:givenName Peter
134 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013660606272.91
135 rdf:type schema:Person
136 sg:person.016607464023.25 schema:affiliation https://www.grid.ac/institutes/grid.5379.8
137 schema:familyName Garner
138 schema:givenName Terence
139 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016607464023.25
140 rdf:type schema:Person
141 sg:pub.10.1007/bf03346720 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010138591
142 https://doi.org/10.1007/bf03346720
143 rdf:type schema:CreativeWork
144 sg:pub.10.1007/s10142-008-0086-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037630560
145 https://doi.org/10.1007/s10142-008-0086-7
146 rdf:type schema:CreativeWork
147 sg:pub.10.1007/s11033-014-3046-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052891638
148 https://doi.org/10.1007/s11033-014-3046-4
149 rdf:type schema:CreativeWork
150 sg:pub.10.1038/ejhg.2013.274 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038144621
151 https://doi.org/10.1038/ejhg.2013.274
152 rdf:type schema:CreativeWork
153 sg:pub.10.1038/nature09410 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037714920
154 https://doi.org/10.1038/nature09410
155 rdf:type schema:CreativeWork
156 sg:pub.10.1038/ng.3097 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006357119
157 https://doi.org/10.1038/ng.3097
158 rdf:type schema:CreativeWork
159 sg:pub.10.1038/ng1379 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013129277
160 https://doi.org/10.1038/ng1379
161 rdf:type schema:CreativeWork
162 sg:pub.10.1038/tpj.2011.13 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009172990
163 https://doi.org/10.1038/tpj.2011.13
164 rdf:type schema:CreativeWork
165 sg:pub.10.1038/tpj.2013.14 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052943321
166 https://doi.org/10.1038/tpj.2013.14
167 rdf:type schema:CreativeWork
168 sg:pub.10.1038/tpj.2015.67 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008615577
169 https://doi.org/10.1038/tpj.2015.67
170 rdf:type schema:CreativeWork
171 https://app.dimensions.ai/details/publication/pub.1078547853 schema:CreativeWork
172 https://app.dimensions.ai/details/publication/pub.1083124263 schema:CreativeWork
173 https://doi.org/10.1006/excr.1997.3789 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006367319
174 rdf:type schema:CreativeWork
175 https://doi.org/10.1016/j.ejmg.2012.09.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003703289
176 rdf:type schema:CreativeWork
177 https://doi.org/10.1093/aje/kwr408 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046703297
178 rdf:type schema:CreativeWork
179 https://doi.org/10.1093/nar/gks1172 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003865873
180 rdf:type schema:CreativeWork
181 https://doi.org/10.1093/nar/gkt1168 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023238985
182 rdf:type schema:CreativeWork
183 https://doi.org/10.1093/nar/gkw1134 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059932075
184 rdf:type schema:CreativeWork
185 https://doi.org/10.1111/j.1365-2265.2007.03090.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1043536437
186 rdf:type schema:CreativeWork
187 https://doi.org/10.1111/j.1365-2265.2007.03140.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1021754599
188 rdf:type schema:CreativeWork
189 https://doi.org/10.1111/j.1365-2265.2009.03681.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1004466765
190 rdf:type schema:CreativeWork
191 https://doi.org/10.1111/j.1742-4658.2006.05347.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1028747777
192 rdf:type schema:CreativeWork
193 https://doi.org/10.1128/mcb.06170-11 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049983620
194 rdf:type schema:CreativeWork
195 https://doi.org/10.1159/000103005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043385886
196 rdf:type schema:CreativeWork
197 https://doi.org/10.1159/000271913 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005987941
198 rdf:type schema:CreativeWork
199 https://doi.org/10.1159/000339468 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017929164
200 rdf:type schema:CreativeWork
201 https://doi.org/10.1210/jc.2005-2005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064288814
202 rdf:type schema:CreativeWork
203 https://doi.org/10.1210/jc.2007-1182 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064290081
204 rdf:type schema:CreativeWork
205 https://doi.org/10.1210/jc.2008-1608 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064290902
206 rdf:type schema:CreativeWork
207 https://doi.org/10.1210/jc.2009-0425 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064291287
208 rdf:type schema:CreativeWork
209 https://doi.org/10.1210/jc.2014-1744 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064295132
210 rdf:type schema:CreativeWork
211 https://doi.org/10.1210/jc.86.3.1274 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064301792
212 rdf:type schema:CreativeWork
213 https://doi.org/10.1210/jcem.84.4.5634 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064322589
214 rdf:type schema:CreativeWork
215 https://doi.org/10.1371/journal.pbio.1001046 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031377769
216 rdf:type schema:CreativeWork
217 https://doi.org/10.1371/journal.pone.0030153 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012819971
218 rdf:type schema:CreativeWork
219 https://doi.org/10.1530/eje-07-0631 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017116875
220 rdf:type schema:CreativeWork
221 https://doi.org/10.1530/eje-13-0069 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008540336
222 rdf:type schema:CreativeWork
223 https://doi.org/10.1530/eje-15-0474 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038778330
224 rdf:type schema:CreativeWork
225 https://doi.org/10.1530/eje-16-0357 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021855747
226 rdf:type schema:CreativeWork
227 https://www.grid.ac/institutes/grid.415910.8 schema:alternateName Royal Manchester Children's Hospital
228 schema:name Division of Developmental Biology & Medicine, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, UK
229 Royal Manchester Children’s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre (MAHSC), Manchester, UK
230 rdf:type schema:Organization
231 https://www.grid.ac/institutes/grid.5379.8 schema:alternateName University of Manchester
232 schema:name Division of Developmental Biology & Medicine, Faculty of Biology, Medicine & Health, University of Manchester, Manchester, UK
233 rdf:type schema:Organization
 




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


...