Permanent correction of an inherited ectodermal dysplasia with recombinant EDA View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2003-05

AUTHORS

Olivier Gaide, Pascal Schneider

ABSTRACT

X-linked hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is a genetic disorder characterized by absence or deficient function of hair, teeth and sweat glands. Affected children may experience life-threatening high fever resulting from reduced ability to sweat. Mice with the Tabby phenotype share many symptoms with human XLHED patients because both phenotypes are caused by mutations of the syntenic ectodysplasin A gene (Eda) on the X chromosome. Two main splice variants of Eda, encoding EDA1 and EDA2, engage the tumor necrosis factor (TNF) family receptors EDAR and XEDAR, respectively. The EDA1 protein, acting through EDAR, is essential for proper formation of skin appendages; the functions of EDA2 and XEDAR are not known. EDA1 must be proteolytically processed to a soluble form to be active. Here, we show that treatment of pregnant Tabby mice with a recombinant form of EDA1, engineered to cross the placental barrier, permanently rescues the Tabby phenotype in the offspring. Notably, sweat glands can also be induced by EDA1 after birth. This is the first example of a developmental genetic defect that can be permanently corrected by short-term treatment with a recombinant protein. More... »

PAGES

614-618

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/nm861

DOI

http://dx.doi.org/10.1038/nm861

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1021994509

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/12692542


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": "Amino Acid Sequence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Animals", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Ectodermal Dysplasia", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Membrane Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mice", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Molecular Sequence Data", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pregnancy", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Recombinant Fusion Proteins", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Lausanne", 
          "id": "https://www.grid.ac/institutes/grid.9851.5", 
          "name": [
            "Institute of Biochemistry, BIL Biomedical Research Center, University of Lausanne, CH-1066 Epalinges, Switzerland."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gaide", 
        "givenName": "Olivier", 
        "id": "sg:person.01310767000.95", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01310767000.95"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Schneider", 
        "givenName": "Pascal", 
        "id": "sg:person.0751222340.80", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0751222340.80"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1177/002215549804600301", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001402610"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/002215549804600301", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001402610"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320530207", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004159088"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320530207", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004159088"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.m101280200", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016105147"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.132636999", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028221388"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00006250-199911000-00021", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028341136"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00006250-199911000-00021", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028341136"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/85837", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029247068", 
          "https://doi.org/10.1038/85837"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/85837", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029247068", 
          "https://doi.org/10.1038/85837"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/03008200290000727", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029394681"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.m002691200", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031515418"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/intimm/9.11.1627", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035871250"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/adc.62.10.989", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036909080"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.94.24.13069", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037567305"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/414913a", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042703745", 
          "https://doi.org/10.1038/414913a"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/414913a", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042703745", 
          "https://doi.org/10.1038/414913a"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/10.26.2973", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046164018"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1128/mcb.23.4.1428-1440.2003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050046294"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/11937", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052497894", 
          "https://doi.org/10.1038/11937"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/11937", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052497894", 
          "https://doi.org/10.1038/11937"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0029-7844(99)00379-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1054598108"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/301984", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058609576"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.290.5491.523", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062571803"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/stke.2002.131.pe22", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062690924"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0076-6879(00)22031-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1074674522"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074710250", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074889498", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1075039885", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/oxfordjournals.humrep.a135906", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1082965811"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1083009471", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1083390437", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2003-05", 
    "datePublishedReg": "2003-05-01", 
    "description": "X-linked hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is a genetic disorder characterized by absence or deficient function of hair, teeth and sweat glands. Affected children may experience life-threatening high fever resulting from reduced ability to sweat. Mice with the Tabby phenotype share many symptoms with human XLHED patients because both phenotypes are caused by mutations of the syntenic ectodysplasin A gene (Eda) on the X chromosome. Two main splice variants of Eda, encoding EDA1 and EDA2, engage the tumor necrosis factor (TNF) family receptors EDAR and XEDAR, respectively. The EDA1 protein, acting through EDAR, is essential for proper formation of skin appendages; the functions of EDA2 and XEDAR are not known. EDA1 must be proteolytically processed to a soluble form to be active. Here, we show that treatment of pregnant Tabby mice with a recombinant form of EDA1, engineered to cross the placental barrier, permanently rescues the Tabby phenotype in the offspring. Notably, sweat glands can also be induced by EDA1 after birth. This is the first example of a developmental genetic defect that can be permanently corrected by short-term treatment with a recombinant protein.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/nm861", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1113716", 
        "issn": [
          "1078-8956", 
          "1546-170X"
        ], 
        "name": "Nature Medicine", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "5", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "9"
      }
    ], 
    "name": "Permanent correction of an inherited ectodermal dysplasia with recombinant EDA", 
    "pagination": "614-618", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "68c97b18e5a49bcc7012d36372125fb6268973e4991ae6ec57d90434415119da"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "12692542"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9502015"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/nm861"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1021994509"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/nm861", 
      "https://app.dimensions.ai/details/publication/pub.1021994509"
    ], 
    "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_87104_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/nm/journal/v9/n5/full/nm861.html"
  }
]
 

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/nm861'

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/nm861'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/nm861'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/nm861'


 

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

187 TRIPLES      21 PREDICATES      64 URIs      30 LITERALS      18 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/nm861 schema:about N0cd7776452d5478caee3f733a882b892
2 N488577ed310a40059fbcb75d1cc34cdf
3 N6ea06b2105ff447d9cd0ed5c552617d6
4 N6eb5ba13f5894964a462f8b0f08d12d7
5 N7223a71722f44b59bce038e8b7a85834
6 N81cb29a989c840c4bada0f67c2bb9fae
7 Nb8cda31c5bd74257b8e9f95470f0a442
8 Ne33ec49990b048d59eee6a0196786190
9 Nf47debe305e74d19b805fbae1b3d96fa
10 anzsrc-for:06
11 anzsrc-for:0604
12 schema:author N253d807aad0d44b3b5717a79f1dadc3e
13 schema:citation sg:pub.10.1038/11937
14 sg:pub.10.1038/414913a
15 sg:pub.10.1038/85837
16 https://app.dimensions.ai/details/publication/pub.1074710250
17 https://app.dimensions.ai/details/publication/pub.1074889498
18 https://app.dimensions.ai/details/publication/pub.1075039885
19 https://app.dimensions.ai/details/publication/pub.1083009471
20 https://app.dimensions.ai/details/publication/pub.1083390437
21 https://doi.org/10.1002/ajmg.1320530207
22 https://doi.org/10.1016/s0029-7844(99)00379-8
23 https://doi.org/10.1016/s0076-6879(00)22031-4
24 https://doi.org/10.1073/pnas.132636999
25 https://doi.org/10.1073/pnas.94.24.13069
26 https://doi.org/10.1074/jbc.m002691200
27 https://doi.org/10.1074/jbc.m101280200
28 https://doi.org/10.1080/03008200290000727
29 https://doi.org/10.1086/301984
30 https://doi.org/10.1093/hmg/10.26.2973
31 https://doi.org/10.1093/intimm/9.11.1627
32 https://doi.org/10.1093/oxfordjournals.humrep.a135906
33 https://doi.org/10.1097/00006250-199911000-00021
34 https://doi.org/10.1126/science.290.5491.523
35 https://doi.org/10.1126/stke.2002.131.pe22
36 https://doi.org/10.1128/mcb.23.4.1428-1440.2003
37 https://doi.org/10.1136/adc.62.10.989
38 https://doi.org/10.1177/002215549804600301
39 schema:datePublished 2003-05
40 schema:datePublishedReg 2003-05-01
41 schema:description X-linked hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is a genetic disorder characterized by absence or deficient function of hair, teeth and sweat glands. Affected children may experience life-threatening high fever resulting from reduced ability to sweat. Mice with the Tabby phenotype share many symptoms with human XLHED patients because both phenotypes are caused by mutations of the syntenic ectodysplasin A gene (Eda) on the X chromosome. Two main splice variants of Eda, encoding EDA1 and EDA2, engage the tumor necrosis factor (TNF) family receptors EDAR and XEDAR, respectively. The EDA1 protein, acting through EDAR, is essential for proper formation of skin appendages; the functions of EDA2 and XEDAR are not known. EDA1 must be proteolytically processed to a soluble form to be active. Here, we show that treatment of pregnant Tabby mice with a recombinant form of EDA1, engineered to cross the placental barrier, permanently rescues the Tabby phenotype in the offspring. Notably, sweat glands can also be induced by EDA1 after birth. This is the first example of a developmental genetic defect that can be permanently corrected by short-term treatment with a recombinant protein.
42 schema:genre research_article
43 schema:inLanguage en
44 schema:isAccessibleForFree true
45 schema:isPartOf N2451732166884253ac3f1f7e4ac3eac4
46 N9b24418d18fd43c1a1f1b2d96886486a
47 sg:journal.1113716
48 schema:name Permanent correction of an inherited ectodermal dysplasia with recombinant EDA
49 schema:pagination 614-618
50 schema:productId N1b9a3873ae2c4582ab12a706900862fe
51 N694f763946b0468294032c7c9741fb99
52 N9603f38f92884a2596809df1ac5956b7
53 N97bc4777dc444e66a6df4efe706e5bb9
54 Nc32257fd95e64e748af5da098e4bbd2e
55 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021994509
56 https://doi.org/10.1038/nm861
57 schema:sdDatePublished 2019-04-11T12:25
58 schema:sdLicense https://scigraph.springernature.com/explorer/license/
59 schema:sdPublisher N3054a74a685747738e727e521c3d5b3d
60 schema:url http://www.nature.com/nm/journal/v9/n5/full/nm861.html
61 sgo:license sg:explorer/license/
62 sgo:sdDataset articles
63 rdf:type schema:ScholarlyArticle
64 N0cd7776452d5478caee3f733a882b892 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
65 schema:name Amino Acid Sequence
66 rdf:type schema:DefinedTerm
67 N1b9a3873ae2c4582ab12a706900862fe schema:name dimensions_id
68 schema:value pub.1021994509
69 rdf:type schema:PropertyValue
70 N2451732166884253ac3f1f7e4ac3eac4 schema:issueNumber 5
71 rdf:type schema:PublicationIssue
72 N253d807aad0d44b3b5717a79f1dadc3e rdf:first sg:person.01310767000.95
73 rdf:rest Ne98111dac6aa4c66af839df3fa1dd025
74 N3054a74a685747738e727e521c3d5b3d schema:name Springer Nature - SN SciGraph project
75 rdf:type schema:Organization
76 N488577ed310a40059fbcb75d1cc34cdf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
77 schema:name Molecular Sequence Data
78 rdf:type schema:DefinedTerm
79 N694f763946b0468294032c7c9741fb99 schema:name readcube_id
80 schema:value 68c97b18e5a49bcc7012d36372125fb6268973e4991ae6ec57d90434415119da
81 rdf:type schema:PropertyValue
82 N6ea06b2105ff447d9cd0ed5c552617d6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
83 schema:name Mice
84 rdf:type schema:DefinedTerm
85 N6eb5ba13f5894964a462f8b0f08d12d7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
86 schema:name Recombinant Fusion Proteins
87 rdf:type schema:DefinedTerm
88 N7223a71722f44b59bce038e8b7a85834 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
89 schema:name Female
90 rdf:type schema:DefinedTerm
91 N81cb29a989c840c4bada0f67c2bb9fae schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
92 schema:name Animals
93 rdf:type schema:DefinedTerm
94 N9603f38f92884a2596809df1ac5956b7 schema:name pubmed_id
95 schema:value 12692542
96 rdf:type schema:PropertyValue
97 N97bc4777dc444e66a6df4efe706e5bb9 schema:name doi
98 schema:value 10.1038/nm861
99 rdf:type schema:PropertyValue
100 N9b24418d18fd43c1a1f1b2d96886486a schema:volumeNumber 9
101 rdf:type schema:PublicationVolume
102 Nb8cda31c5bd74257b8e9f95470f0a442 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
103 schema:name Ectodermal Dysplasia
104 rdf:type schema:DefinedTerm
105 Nc32257fd95e64e748af5da098e4bbd2e schema:name nlm_unique_id
106 schema:value 9502015
107 rdf:type schema:PropertyValue
108 Ne33ec49990b048d59eee6a0196786190 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
109 schema:name Membrane Proteins
110 rdf:type schema:DefinedTerm
111 Ne98111dac6aa4c66af839df3fa1dd025 rdf:first sg:person.0751222340.80
112 rdf:rest rdf:nil
113 Nf47debe305e74d19b805fbae1b3d96fa schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
114 schema:name Pregnancy
115 rdf:type schema:DefinedTerm
116 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
117 schema:name Biological Sciences
118 rdf:type schema:DefinedTerm
119 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
120 schema:name Genetics
121 rdf:type schema:DefinedTerm
122 sg:journal.1113716 schema:issn 1078-8956
123 1546-170X
124 schema:name Nature Medicine
125 rdf:type schema:Periodical
126 sg:person.01310767000.95 schema:affiliation https://www.grid.ac/institutes/grid.9851.5
127 schema:familyName Gaide
128 schema:givenName Olivier
129 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01310767000.95
130 rdf:type schema:Person
131 sg:person.0751222340.80 schema:familyName Schneider
132 schema:givenName Pascal
133 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0751222340.80
134 rdf:type schema:Person
135 sg:pub.10.1038/11937 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052497894
136 https://doi.org/10.1038/11937
137 rdf:type schema:CreativeWork
138 sg:pub.10.1038/414913a schema:sameAs https://app.dimensions.ai/details/publication/pub.1042703745
139 https://doi.org/10.1038/414913a
140 rdf:type schema:CreativeWork
141 sg:pub.10.1038/85837 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029247068
142 https://doi.org/10.1038/85837
143 rdf:type schema:CreativeWork
144 https://app.dimensions.ai/details/publication/pub.1074710250 schema:CreativeWork
145 https://app.dimensions.ai/details/publication/pub.1074889498 schema:CreativeWork
146 https://app.dimensions.ai/details/publication/pub.1075039885 schema:CreativeWork
147 https://app.dimensions.ai/details/publication/pub.1083009471 schema:CreativeWork
148 https://app.dimensions.ai/details/publication/pub.1083390437 schema:CreativeWork
149 https://doi.org/10.1002/ajmg.1320530207 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004159088
150 rdf:type schema:CreativeWork
151 https://doi.org/10.1016/s0029-7844(99)00379-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1054598108
152 rdf:type schema:CreativeWork
153 https://doi.org/10.1016/s0076-6879(00)22031-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1074674522
154 rdf:type schema:CreativeWork
155 https://doi.org/10.1073/pnas.132636999 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028221388
156 rdf:type schema:CreativeWork
157 https://doi.org/10.1073/pnas.94.24.13069 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037567305
158 rdf:type schema:CreativeWork
159 https://doi.org/10.1074/jbc.m002691200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031515418
160 rdf:type schema:CreativeWork
161 https://doi.org/10.1074/jbc.m101280200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016105147
162 rdf:type schema:CreativeWork
163 https://doi.org/10.1080/03008200290000727 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029394681
164 rdf:type schema:CreativeWork
165 https://doi.org/10.1086/301984 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609576
166 rdf:type schema:CreativeWork
167 https://doi.org/10.1093/hmg/10.26.2973 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046164018
168 rdf:type schema:CreativeWork
169 https://doi.org/10.1093/intimm/9.11.1627 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035871250
170 rdf:type schema:CreativeWork
171 https://doi.org/10.1093/oxfordjournals.humrep.a135906 schema:sameAs https://app.dimensions.ai/details/publication/pub.1082965811
172 rdf:type schema:CreativeWork
173 https://doi.org/10.1097/00006250-199911000-00021 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028341136
174 rdf:type schema:CreativeWork
175 https://doi.org/10.1126/science.290.5491.523 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062571803
176 rdf:type schema:CreativeWork
177 https://doi.org/10.1126/stke.2002.131.pe22 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062690924
178 rdf:type schema:CreativeWork
179 https://doi.org/10.1128/mcb.23.4.1428-1440.2003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050046294
180 rdf:type schema:CreativeWork
181 https://doi.org/10.1136/adc.62.10.989 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036909080
182 rdf:type schema:CreativeWork
183 https://doi.org/10.1177/002215549804600301 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001402610
184 rdf:type schema:CreativeWork
185 https://www.grid.ac/institutes/grid.9851.5 schema:alternateName University of Lausanne
186 schema:name Institute of Biochemistry, BIL Biomedical Research Center, University of Lausanne, CH-1066 Epalinges, Switzerland.
187 rdf:type schema:Organization
 




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


...