Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2001-03

AUTHORS

E A Lindsay, F Vitelli, H Su, M Morishima, T Huynh, T Pramparo, V Jurecic, G Ogunrinu, H F Sutherland, P J Scambler, A Bradley, A Baldini

ABSTRACT

DiGeorge syndrome is characterized by cardiovascular, thymus and parathyroid defects and craniofacial anomalies, and is usually caused by a heterozygous deletion of chromosomal region 22q11.2 (del22q11) (ref. 1). A targeted, heterozygous deletion, named Df(16)1, encompassing around 1 megabase of the homologous region in mouse causes cardiovascular abnormalities characteristic of the human disease. Here we have used a combination of chromosome engineering and P1 artificial chromosome transgenesis to localize the haploinsufficient gene in the region, Tbx1. We show that Tbx1, a member of the T-box transcription factor family, is required for normal development of the pharyngeal arch arteries in a gene dosage-dependent manner. Deletion of one copy of Tbx1 affects the development of the fourth pharyngeal arch arteries, whereas homozygous mutation severely disrupts the pharyngeal arch artery system. Our data show that haploinsufficiency of Tbx1 is sufficient to generate at least one important component of the DiGeorge syndrome phenotype in mice, and demonstrate the suitability of the mouse for the genetic dissection of microdeletion syndromes. More... »

PAGES

97

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/35065105

DOI

http://dx.doi.org/10.1038/35065105

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1011836103

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11242049


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/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Animals", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Aorta, Thoracic", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cell Line", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DiGeorge Syndrome", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gene Deletion", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gene Targeting", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Haplotypes", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mice", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mice, Inbred C57BL", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mice, Transgenic", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Molecular Sequence Data", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutagenesis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "T-Box Domain Proteins", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Baylor College of Medicine", 
          "id": "https://www.grid.ac/institutes/grid.39382.33", 
          "name": [
            "Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lindsay", 
        "givenName": "E A", 
        "id": "sg:person.0701435321.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701435321.39"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Vitelli", 
        "givenName": "F", 
        "id": "sg:person.0631647042.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0631647042.13"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Su", 
        "givenName": "H", 
        "id": "sg:person.01351332630.37", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01351332630.37"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Morishima", 
        "givenName": "M", 
        "id": "sg:person.014043633135.02", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014043633135.02"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Huynh", 
        "givenName": "T", 
        "id": "sg:person.01251603330.02", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01251603330.02"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Pramparo", 
        "givenName": "T", 
        "id": "sg:person.0706362164.80", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0706362164.80"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Jurecic", 
        "givenName": "V", 
        "id": "sg:person.0741570033.71", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0741570033.71"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Ogunrinu", 
        "givenName": "G", 
        "id": "sg:person.01042105052.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01042105052.49"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Sutherland", 
        "givenName": "H F", 
        "id": "sg:person.01340426302.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01340426302.06"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Scambler", 
        "givenName": "P J", 
        "id": "sg:person.07363616154.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07363616154.55"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Bradley", 
        "givenName": "A", 
        "id": "sg:person.01241363521.63", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01241363521.63"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Baldini", 
        "givenName": "A", 
        "id": "sg:person.0747550521.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747550521.13"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/ng0197-30", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000860960", 
          "https://doi.org/10.1038/ng0197-30"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1097-0177(199608)206:4<379::aid-aja4>3.0.co;2-f", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002111240"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/43900", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007642836", 
          "https://doi.org/10.1038/43900"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/43900", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007642836", 
          "https://doi.org/10.1038/43900"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200399", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007750865", 
          "https://doi.org/10.1038/sj.ejhg.5200399"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200399", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007750865", 
          "https://doi.org/10.1038/sj.ejhg.5200399"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/378720a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008766122", 
          "https://doi.org/10.1038/378720a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s003359900606", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013235164", 
          "https://doi.org/10.1007/s003359900606"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.94.26.14608", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016181153"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<27::aid-ajmg6>3.0.co;2-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019529304"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0002-9297(07)64250-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023777676"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng0797-311", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026685934", 
          "https://doi.org/10.1038/ng0797-311"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0959-437x(97)80073-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027679068"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.97.18.10090", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028881323"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.7.1.17", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035418555"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/9.16.2421", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038236667"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng0197-21", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040161535", 
          "https://doi.org/10.1038/ng0197-21"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s003359901019", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041292595", 
          "https://doi.org/10.1007/s003359901019"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/geno.1997.4829", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044231064"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/71756", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046201088", 
          "https://doi.org/10.1038/71756"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/71756", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046201088", 
          "https://doi.org/10.1038/71756"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/geno.1998.5414", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046740945"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1097-0177(199701)208:1<34::aid-aja4>3.0.co;2-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048450856"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1385/0-89603-280-9:75", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048923982", 
          "https://doi.org/10.1385/0-89603-280-9:75"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0167-4781(00)00189-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051042656"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/360313a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052319710", 
          "https://doi.org/10.1038/360313a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082554725", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1083382728", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2001-03", 
    "datePublishedReg": "2001-03-01", 
    "description": "DiGeorge syndrome is characterized by cardiovascular, thymus and parathyroid defects and craniofacial anomalies, and is usually caused by a heterozygous deletion of chromosomal region 22q11.2 (del22q11) (ref. 1). A targeted, heterozygous deletion, named Df(16)1, encompassing around 1 megabase of the homologous region in mouse causes cardiovascular abnormalities characteristic of the human disease. Here we have used a combination of chromosome engineering and P1 artificial chromosome transgenesis to localize the haploinsufficient gene in the region, Tbx1. We show that Tbx1, a member of the T-box transcription factor family, is required for normal development of the pharyngeal arch arteries in a gene dosage-dependent manner. Deletion of one copy of Tbx1 affects the development of the fourth pharyngeal arch arteries, whereas homozygous mutation severely disrupts the pharyngeal arch artery system. Our data show that haploinsufficiency of Tbx1 is sufficient to generate at least one important component of the DiGeorge syndrome phenotype in mice, and demonstrate the suitability of the mouse for the genetic dissection of microdeletion syndromes.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/35065105", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1018957", 
        "issn": [
          "0090-0028", 
          "1476-4687"
        ], 
        "name": "Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "6824", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "410"
      }
    ], 
    "name": "Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice", 
    "pagination": "97", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "3864b8489035bf5b2525393fbcd8a700935b01a4268f7b7f1019c6f5b9947082"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "11242049"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "0410462"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/35065105"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1011836103"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/35065105", 
      "https://app.dimensions.ai/details/publication/pub.1011836103"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T12:25", 
    "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/v90/0000000362_0000000362/records_87106_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/35065105"
  }
]
 

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.10.1038/35065105'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/35065105'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/35065105'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/35065105'


 

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

275 TRIPLES      21 PREDICATES      68 URIs      35 LITERALS      23 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/35065105 schema:about N09bff6526c5a4a0f816fbe0ed6362233
2 N0f55bff830da47aa87015fbd14b65e8b
3 N1164c2b8a15b4eaa927bdbe170d312be
4 N230dc57643564e92a698f004c5a95c67
5 N3ebb17aed5c34caea86559fccc5761f1
6 N5761dcdb4df440029ef3c53d31669388
7 N71951a9753b348e6b76314382fdf0a8d
8 N8243e9b1059346e9b834508b67b7924c
9 N9d5b486009d444908f64857a421c0c2d
10 Ncfd2460f9ebc4213b143ff7238996ec7
11 Nd73d2681ae264a5a972271e0c924f59d
12 Nf566229edcc84818856d1602394a829c
13 Nf74576d86faa4a9d992b91e23fc94872
14 Nfcf2fee2664f4fdc80b12c11e5e4162b
15 anzsrc-for:06
16 anzsrc-for:0604
17 schema:author N0d1d9d9977ac4679847c040d0d8af4fb
18 schema:citation sg:pub.10.1007/s003359900606
19 sg:pub.10.1007/s003359901019
20 sg:pub.10.1038/360313a0
21 sg:pub.10.1038/378720a0
22 sg:pub.10.1038/43900
23 sg:pub.10.1038/71756
24 sg:pub.10.1038/ng0197-21
25 sg:pub.10.1038/ng0197-30
26 sg:pub.10.1038/ng0797-311
27 sg:pub.10.1038/sj.ejhg.5200399
28 sg:pub.10.1385/0-89603-280-9:75
29 https://app.dimensions.ai/details/publication/pub.1082554725
30 https://app.dimensions.ai/details/publication/pub.1083382728
31 https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<27::aid-ajmg6>3.0.co;2-7
32 https://doi.org/10.1002/(sici)1097-0177(199608)206:4<379::aid-aja4>3.0.co;2-f
33 https://doi.org/10.1002/(sici)1097-0177(199701)208:1<34::aid-aja4>3.0.co;2-2
34 https://doi.org/10.1006/geno.1997.4829
35 https://doi.org/10.1006/geno.1998.5414
36 https://doi.org/10.1016/s0002-9297(07)64250-5
37 https://doi.org/10.1016/s0167-4781(00)00189-5
38 https://doi.org/10.1016/s0959-437x(97)80073-1
39 https://doi.org/10.1073/pnas.94.26.14608
40 https://doi.org/10.1073/pnas.97.18.10090
41 https://doi.org/10.1093/hmg/9.16.2421
42 https://doi.org/10.1101/gr.7.1.17
43 schema:datePublished 2001-03
44 schema:datePublishedReg 2001-03-01
45 schema:description DiGeorge syndrome is characterized by cardiovascular, thymus and parathyroid defects and craniofacial anomalies, and is usually caused by a heterozygous deletion of chromosomal region 22q11.2 (del22q11) (ref. 1). A targeted, heterozygous deletion, named Df(16)1, encompassing around 1 megabase of the homologous region in mouse causes cardiovascular abnormalities characteristic of the human disease. Here we have used a combination of chromosome engineering and P1 artificial chromosome transgenesis to localize the haploinsufficient gene in the region, Tbx1. We show that Tbx1, a member of the T-box transcription factor family, is required for normal development of the pharyngeal arch arteries in a gene dosage-dependent manner. Deletion of one copy of Tbx1 affects the development of the fourth pharyngeal arch arteries, whereas homozygous mutation severely disrupts the pharyngeal arch artery system. Our data show that haploinsufficiency of Tbx1 is sufficient to generate at least one important component of the DiGeorge syndrome phenotype in mice, and demonstrate the suitability of the mouse for the genetic dissection of microdeletion syndromes.
46 schema:genre research_article
47 schema:inLanguage en
48 schema:isAccessibleForFree false
49 schema:isPartOf N522b0cf87d024c83a73fb0704bfeb308
50 N81438de801f94498959715c5c356ff0e
51 sg:journal.1018957
52 schema:name Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
53 schema:pagination 97
54 schema:productId N10a4b6d0eee741d68078e8ee2ce815b2
55 N84ea71c4bf8a494083beb2ce197f0d79
56 N950a230bc06d48e6a6a0d76a7879a127
57 Nab83c17cc7414fca9c42bd5c5d3e9046
58 Nbbcef1cbcf754c5997fbe307d9c93587
59 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011836103
60 https://doi.org/10.1038/35065105
61 schema:sdDatePublished 2019-04-11T12:25
62 schema:sdLicense https://scigraph.springernature.com/explorer/license/
63 schema:sdPublisher Ndef8582e4ee74725b3e1d91f03c611c3
64 schema:url https://www.nature.com/articles/35065105
65 sgo:license sg:explorer/license/
66 sgo:sdDataset articles
67 rdf:type schema:ScholarlyArticle
68 N09bff6526c5a4a0f816fbe0ed6362233 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
69 schema:name Mice
70 rdf:type schema:DefinedTerm
71 N0bfbaec16d7c46da90ea79076a29112d rdf:first sg:person.01042105052.49
72 rdf:rest N5df3b92820e24bd8a44cde53daab7430
73 N0d1d9d9977ac4679847c040d0d8af4fb rdf:first sg:person.0701435321.39
74 rdf:rest N2b1ea556e0364857897f851f412b4a78
75 N0f55bff830da47aa87015fbd14b65e8b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
76 schema:name DiGeorge Syndrome
77 rdf:type schema:DefinedTerm
78 N10a4b6d0eee741d68078e8ee2ce815b2 schema:name dimensions_id
79 schema:value pub.1011836103
80 rdf:type schema:PropertyValue
81 N1164c2b8a15b4eaa927bdbe170d312be schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
82 schema:name Mutagenesis
83 rdf:type schema:DefinedTerm
84 N132aed8146324a2f8fc4a9ca5e13df03 rdf:first sg:person.07363616154.55
85 rdf:rest N9ec9485252454cefa05579d794f5fc10
86 N20b1961f2b1943ba94c72f69b9deebb3 rdf:first sg:person.0741570033.71
87 rdf:rest N0bfbaec16d7c46da90ea79076a29112d
88 N230dc57643564e92a698f004c5a95c67 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
89 schema:name Gene Deletion
90 rdf:type schema:DefinedTerm
91 N23660212751641ee8f30e1fd77bb973e rdf:first sg:person.0706362164.80
92 rdf:rest N20b1961f2b1943ba94c72f69b9deebb3
93 N265117a0d8104878bd8a81c888689339 rdf:first sg:person.014043633135.02
94 rdf:rest Nf528ffb213f547d48a12c89ddf3eada9
95 N2b1ea556e0364857897f851f412b4a78 rdf:first sg:person.0631647042.13
96 rdf:rest Nd6ef9929edfd448a9415e737545fbb6e
97 N3ebb17aed5c34caea86559fccc5761f1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
98 schema:name Molecular Sequence Data
99 rdf:type schema:DefinedTerm
100 N522b0cf87d024c83a73fb0704bfeb308 schema:issueNumber 6824
101 rdf:type schema:PublicationIssue
102 N5761dcdb4df440029ef3c53d31669388 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
103 schema:name Mice, Inbred C57BL
104 rdf:type schema:DefinedTerm
105 N5df3b92820e24bd8a44cde53daab7430 rdf:first sg:person.01340426302.06
106 rdf:rest N132aed8146324a2f8fc4a9ca5e13df03
107 N718f0f2dd4dc45fbabe1e920040d9afe rdf:first sg:person.0747550521.13
108 rdf:rest rdf:nil
109 N71951a9753b348e6b76314382fdf0a8d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
110 schema:name Cell Line
111 rdf:type schema:DefinedTerm
112 N81438de801f94498959715c5c356ff0e schema:volumeNumber 410
113 rdf:type schema:PublicationVolume
114 N8243e9b1059346e9b834508b67b7924c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
115 schema:name Mice, Transgenic
116 rdf:type schema:DefinedTerm
117 N84ea71c4bf8a494083beb2ce197f0d79 schema:name doi
118 schema:value 10.1038/35065105
119 rdf:type schema:PropertyValue
120 N950a230bc06d48e6a6a0d76a7879a127 schema:name nlm_unique_id
121 schema:value 0410462
122 rdf:type schema:PropertyValue
123 N9d5b486009d444908f64857a421c0c2d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
124 schema:name T-Box Domain Proteins
125 rdf:type schema:DefinedTerm
126 N9ec9485252454cefa05579d794f5fc10 rdf:first sg:person.01241363521.63
127 rdf:rest N718f0f2dd4dc45fbabe1e920040d9afe
128 Nab83c17cc7414fca9c42bd5c5d3e9046 schema:name pubmed_id
129 schema:value 11242049
130 rdf:type schema:PropertyValue
131 Nbbcef1cbcf754c5997fbe307d9c93587 schema:name readcube_id
132 schema:value 3864b8489035bf5b2525393fbcd8a700935b01a4268f7b7f1019c6f5b9947082
133 rdf:type schema:PropertyValue
134 Ncfd2460f9ebc4213b143ff7238996ec7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
135 schema:name Animals
136 rdf:type schema:DefinedTerm
137 Nd6ef9929edfd448a9415e737545fbb6e rdf:first sg:person.01351332630.37
138 rdf:rest N265117a0d8104878bd8a81c888689339
139 Nd73d2681ae264a5a972271e0c924f59d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
140 schema:name Haplotypes
141 rdf:type schema:DefinedTerm
142 Ndef8582e4ee74725b3e1d91f03c611c3 schema:name Springer Nature - SN SciGraph project
143 rdf:type schema:Organization
144 Nf528ffb213f547d48a12c89ddf3eada9 rdf:first sg:person.01251603330.02
145 rdf:rest N23660212751641ee8f30e1fd77bb973e
146 Nf566229edcc84818856d1602394a829c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
147 schema:name Gene Targeting
148 rdf:type schema:DefinedTerm
149 Nf74576d86faa4a9d992b91e23fc94872 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
150 schema:name Humans
151 rdf:type schema:DefinedTerm
152 Nfcf2fee2664f4fdc80b12c11e5e4162b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
153 schema:name Aorta, Thoracic
154 rdf:type schema:DefinedTerm
155 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
156 schema:name Biological Sciences
157 rdf:type schema:DefinedTerm
158 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
159 schema:name Genetics
160 rdf:type schema:DefinedTerm
161 sg:journal.1018957 schema:issn 0090-0028
162 1476-4687
163 schema:name Nature
164 rdf:type schema:Periodical
165 sg:person.01042105052.49 schema:familyName Ogunrinu
166 schema:givenName G
167 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01042105052.49
168 rdf:type schema:Person
169 sg:person.01241363521.63 schema:familyName Bradley
170 schema:givenName A
171 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01241363521.63
172 rdf:type schema:Person
173 sg:person.01251603330.02 schema:familyName Huynh
174 schema:givenName T
175 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01251603330.02
176 rdf:type schema:Person
177 sg:person.01340426302.06 schema:familyName Sutherland
178 schema:givenName H F
179 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01340426302.06
180 rdf:type schema:Person
181 sg:person.01351332630.37 schema:familyName Su
182 schema:givenName H
183 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01351332630.37
184 rdf:type schema:Person
185 sg:person.014043633135.02 schema:familyName Morishima
186 schema:givenName M
187 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014043633135.02
188 rdf:type schema:Person
189 sg:person.0631647042.13 schema:familyName Vitelli
190 schema:givenName F
191 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0631647042.13
192 rdf:type schema:Person
193 sg:person.0701435321.39 schema:affiliation https://www.grid.ac/institutes/grid.39382.33
194 schema:familyName Lindsay
195 schema:givenName E A
196 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701435321.39
197 rdf:type schema:Person
198 sg:person.0706362164.80 schema:familyName Pramparo
199 schema:givenName T
200 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0706362164.80
201 rdf:type schema:Person
202 sg:person.07363616154.55 schema:familyName Scambler
203 schema:givenName P J
204 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07363616154.55
205 rdf:type schema:Person
206 sg:person.0741570033.71 schema:familyName Jurecic
207 schema:givenName V
208 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0741570033.71
209 rdf:type schema:Person
210 sg:person.0747550521.13 schema:familyName Baldini
211 schema:givenName A
212 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747550521.13
213 rdf:type schema:Person
214 sg:pub.10.1007/s003359900606 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013235164
215 https://doi.org/10.1007/s003359900606
216 rdf:type schema:CreativeWork
217 sg:pub.10.1007/s003359901019 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041292595
218 https://doi.org/10.1007/s003359901019
219 rdf:type schema:CreativeWork
220 sg:pub.10.1038/360313a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052319710
221 https://doi.org/10.1038/360313a0
222 rdf:type schema:CreativeWork
223 sg:pub.10.1038/378720a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008766122
224 https://doi.org/10.1038/378720a0
225 rdf:type schema:CreativeWork
226 sg:pub.10.1038/43900 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007642836
227 https://doi.org/10.1038/43900
228 rdf:type schema:CreativeWork
229 sg:pub.10.1038/71756 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046201088
230 https://doi.org/10.1038/71756
231 rdf:type schema:CreativeWork
232 sg:pub.10.1038/ng0197-21 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040161535
233 https://doi.org/10.1038/ng0197-21
234 rdf:type schema:CreativeWork
235 sg:pub.10.1038/ng0197-30 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000860960
236 https://doi.org/10.1038/ng0197-30
237 rdf:type schema:CreativeWork
238 sg:pub.10.1038/ng0797-311 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026685934
239 https://doi.org/10.1038/ng0797-311
240 rdf:type schema:CreativeWork
241 sg:pub.10.1038/sj.ejhg.5200399 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007750865
242 https://doi.org/10.1038/sj.ejhg.5200399
243 rdf:type schema:CreativeWork
244 sg:pub.10.1385/0-89603-280-9:75 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048923982
245 https://doi.org/10.1385/0-89603-280-9:75
246 rdf:type schema:CreativeWork
247 https://app.dimensions.ai/details/publication/pub.1082554725 schema:CreativeWork
248 https://app.dimensions.ai/details/publication/pub.1083382728 schema:CreativeWork
249 https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<27::aid-ajmg6>3.0.co;2-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019529304
250 rdf:type schema:CreativeWork
251 https://doi.org/10.1002/(sici)1097-0177(199608)206:4<379::aid-aja4>3.0.co;2-f schema:sameAs https://app.dimensions.ai/details/publication/pub.1002111240
252 rdf:type schema:CreativeWork
253 https://doi.org/10.1002/(sici)1097-0177(199701)208:1<34::aid-aja4>3.0.co;2-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048450856
254 rdf:type schema:CreativeWork
255 https://doi.org/10.1006/geno.1997.4829 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044231064
256 rdf:type schema:CreativeWork
257 https://doi.org/10.1006/geno.1998.5414 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046740945
258 rdf:type schema:CreativeWork
259 https://doi.org/10.1016/s0002-9297(07)64250-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023777676
260 rdf:type schema:CreativeWork
261 https://doi.org/10.1016/s0167-4781(00)00189-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051042656
262 rdf:type schema:CreativeWork
263 https://doi.org/10.1016/s0959-437x(97)80073-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027679068
264 rdf:type schema:CreativeWork
265 https://doi.org/10.1073/pnas.94.26.14608 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016181153
266 rdf:type schema:CreativeWork
267 https://doi.org/10.1073/pnas.97.18.10090 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028881323
268 rdf:type schema:CreativeWork
269 https://doi.org/10.1093/hmg/9.16.2421 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038236667
270 rdf:type schema:CreativeWork
271 https://doi.org/10.1101/gr.7.1.17 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035418555
272 rdf:type schema:CreativeWork
273 https://www.grid.ac/institutes/grid.39382.33 schema:alternateName Baylor College of Medicine
274 schema:name Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.
275 rdf:type schema:Organization
 




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


...