A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2010-04-16

AUTHORS

Liat Ashkenazi-Hoffnung, Yael Lebenthal, Alexander W. Wyatt, Nicola K. Ragge, Sumito Dateki, Maki Fukami, Tsutomu Ogata, Moshe Phillip, Galia Gat-Yablonski

ABSTRACT

Heterozygous mutations of the gene encoding transcription factor OTX2 were recently shown to be responsible for ocular as well as pituitary abnormalities. Here, we describe a patient with unilateral anophthalmia and short stature. Endocrine evaluation of the hypothalamic–pituitary axis revealed isolated growth hormone deficiency (IGHD) with small anterior pituitary gland, invisible stalk, ectopic posterior lobe, and right anophthalmia on brain magnetic resonance imaging. DNA was analyzed for mutations in the HESX1, SOX2, and OTX2 genes. Molecular analysis yielded a novel heterozygous OTX2 mutation (c.270A>T, p.R90S) within the homeodomain. Functional analysis revealed that the mutation inhibited both the DNA binding and transactivation activities of the protein. This novel loss-of-function mutation is associated with anophthalmia and IGHD in a patient of Sephardic Jewish descent. We recommend that patients with GH deficiency and ocular malformation in whom genetic analysis for classic transcription factor genes (PROP1, POU1F1, HESX1, and LHX4) failed to identify alterations should be checked for the presence of mutations in the OTX2 gene. More... »

PAGES

721-729

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00439-010-0820-9

DOI

http://dx.doi.org/10.1007/s00439-010-0820-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1017677870

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/20396904


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/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological 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"
      }, 
      {
        "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/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Anophthalmos", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child, Preschool", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Eye Abnormalities", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Heterozygote", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Homeodomain Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Human Growth Hormone", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "LIM-Homeodomain Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation, Missense", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Otx Transcription Factors", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pituitary Gland, Anterior", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Transcription Factors", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "The Jesse Z and Sara Lea Shafer Institute of Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children\u2019s Medical Center of Israel, 14 Kaplan Street, 49202, Petach Tikva, Israel", 
          "id": "http://www.grid.ac/institutes/grid.414231.1", 
          "name": [
            "The Jesse Z and Sara Lea Shafer Institute of Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children\u2019s Medical Center of Israel, 14 Kaplan Street, 49202, Petach Tikva, Israel"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ashkenazi-Hoffnung", 
        "givenName": "Liat", 
        "id": "sg:person.0653604012.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653604012.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "The Jesse Z and Sara Lea Shafer Institute of Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children\u2019s Medical Center of Israel, 14 Kaplan Street, 49202, Petach Tikva, Israel", 
          "id": "http://www.grid.ac/institutes/grid.414231.1", 
          "name": [
            "The Jesse Z and Sara Lea Shafer Institute of Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children\u2019s Medical Center of Israel, 14 Kaplan Street, 49202, Petach Tikva, Israel"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lebenthal", 
        "givenName": "Yael", 
        "id": "sg:person.01104572451.85", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104572451.85"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Physiology, Anatomy and Genetics, University of Oxford, Le Gros Clark Building, OX1 3QX, Oxford, UK", 
          "id": "http://www.grid.ac/institutes/grid.4991.5", 
          "name": [
            "Department of Physiology, Anatomy and Genetics, University of Oxford, Le Gros Clark Building, OX1 3QX, Oxford, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wyatt", 
        "givenName": "Alexander W.", 
        "id": "sg:person.0670030555.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0670030555.24"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Moorfields Eye Hospital NHS Foundation Trust, EC1V 2PD, London, UK", 
          "id": "http://www.grid.ac/institutes/grid.436474.6", 
          "name": [
            "Department of Physiology, Anatomy and Genetics, University of Oxford, Le Gros Clark Building, OX1 3QX, Oxford, UK", 
            "Moorfields Eye Hospital NHS Foundation Trust, EC1V 2PD, London, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ragge", 
        "givenName": "Nicola K.", 
        "id": "sg:person.01152731344.29", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01152731344.29"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan", 
          "id": "http://www.grid.ac/institutes/grid.174567.6", 
          "name": [
            "Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan", 
            "Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dateki", 
        "givenName": "Sumito", 
        "id": "sg:person.01023477015.64", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01023477015.64"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan", 
          "id": "http://www.grid.ac/institutes/grid.63906.3a", 
          "name": [
            "Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fukami", 
        "givenName": "Maki", 
        "id": "sg:person.0773240517.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773240517.43"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan", 
          "id": "http://www.grid.ac/institutes/grid.63906.3a", 
          "name": [
            "Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ogata", 
        "givenName": "Tsutomu", 
        "id": "sg:person.01261555724.86", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01261555724.86"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel", 
          "id": "http://www.grid.ac/institutes/grid.12136.37", 
          "name": [
            "The Jesse Z and Sara Lea Shafer Institute of Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children\u2019s Medical Center of Israel, 14 Kaplan Street, 49202, Petach Tikva, Israel", 
            "Felsenstein Medical Research Center, 49202, Petah Tikva, Israel", 
            "Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Phillip", 
        "givenName": "Moshe", 
        "id": "sg:person.0742322200.68", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0742322200.68"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Felsenstein Medical Research Center, 49202, Petah Tikva, Israel", 
          "id": "http://www.grid.ac/institutes/grid.12136.37", 
          "name": [
            "The Jesse Z and Sara Lea Shafer Institute of Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children\u2019s Medical Center of Israel, 14 Kaplan Street, 49202, Petach Tikva, Israel", 
            "Felsenstein Medical Research Center, 49202, Petah Tikva, Israel"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gat-Yablonski", 
        "givenName": "Galia", 
        "id": "sg:person.0650304566.86", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0650304566.86"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/ng0298-147", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030737601", 
          "https://doi.org/10.1038/ng0298-147"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5201826", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005387426", 
          "https://doi.org/10.1038/sj.ejhg.5201826"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00109-006-0048-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032265859", 
          "https://doi.org/10.1007/s00109-006-0048-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/76041", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017863328", 
          "https://doi.org/10.1038/76041"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/477", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007603004", 
          "https://doi.org/10.1038/477"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1296-392", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001582944", 
          "https://doi.org/10.1038/ng1296-392"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1120", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017379368", 
          "https://doi.org/10.1038/ng1120"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1309", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012987561", 
          "https://doi.org/10.1038/ng1309"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2010-04-16", 
    "datePublishedReg": "2010-04-16", 
    "description": "Heterozygous mutations of the gene encoding transcription factor OTX2 were recently shown to be responsible for ocular as well as pituitary abnormalities. Here, we describe a patient with unilateral anophthalmia and short stature. Endocrine evaluation of the hypothalamic\u2013pituitary axis revealed isolated growth hormone deficiency (IGHD) with small anterior pituitary gland, invisible stalk, ectopic posterior lobe, and right anophthalmia on brain magnetic resonance imaging. DNA was analyzed for mutations in the HESX1, SOX2, and OTX2 genes. Molecular analysis yielded a novel heterozygous OTX2 mutation (c.270A>T, p.R90S) within the homeodomain. Functional analysis revealed that the mutation inhibited both the DNA binding and transactivation activities of the protein. This novel loss-of-function mutation is associated with anophthalmia and IGHD in a patient of Sephardic Jewish descent. We recommend that patients with GH deficiency and ocular malformation in whom genetic analysis for classic transcription factor genes (PROP1, POU1F1, HESX1, and LHX4) failed to identify alterations should be checked for the presence of mutations in the OTX2 gene.", 
    "genre": "article", 
    "id": "sg:pub.10.1007/s00439-010-0820-9", 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1085982", 
        "issn": [
          "0340-6717", 
          "1432-1203"
        ], 
        "name": "Human Genetics", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "6", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "127"
      }
    ], 
    "keywords": [
      "isolated growth hormone deficiency", 
      "growth hormone deficiency", 
      "hormone deficiency", 
      "small anterior pituitary gland", 
      "Otx2 gene", 
      "brain magnetic resonance imaging", 
      "hypothalamic-pituitary axis", 
      "ectopic posterior lobe", 
      "function mutations", 
      "anterior pituitary gland", 
      "transcription factor genes", 
      "magnetic resonance imaging", 
      "transcription factor Otx2", 
      "presence of mutations", 
      "right anophthalmia", 
      "endocrine evaluation", 
      "GH deficiency", 
      "pituitary abnormalities", 
      "ocular malformations", 
      "pituitary gland", 
      "patients", 
      "short stature", 
      "resonance imaging", 
      "unilateral anophthalmia", 
      "posterior lobe", 
      "heterozygous mutations", 
      "transactivation activity", 
      "DNA binding", 
      "factor genes", 
      "novel loss", 
      "anophthalmia", 
      "genetic analysis", 
      "functional analysis", 
      "OTX2 mutations", 
      "genes", 
      "molecular analysis", 
      "mutations", 
      "deficiency", 
      "Otx2", 
      "Jewish descent", 
      "malformations", 
      "abnormalities", 
      "homeodomain", 
      "gland", 
      "SOX2", 
      "HESX1", 
      "lobe", 
      "protein", 
      "DNA", 
      "alterations", 
      "stature", 
      "imaging", 
      "loss", 
      "binding", 
      "stalk", 
      "evaluation", 
      "activity", 
      "analysis", 
      "presence", 
      "axis", 
      "descent"
    ], 
    "name": "A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency", 
    "pagination": "721-729", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1017677870"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s00439-010-0820-9"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "20396904"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s00439-010-0820-9", 
      "https://app.dimensions.ai/details/publication/pub.1017677870"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-09-02T15:53", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20220902/entities/gbq_results/article/article_510.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1007/s00439-010-0820-9"
  }
]
 

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.10.1007/s00439-010-0820-9'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s00439-010-0820-9'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00439-010-0820-9'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00439-010-0820-9'


 

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

290 TRIPLES      21 PREDICATES      109 URIs      91 LITERALS      20 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s00439-010-0820-9 schema:about N2f781faa74cd44be8f9de9e307e6c4e9
2 N494cc081868f4eb7a7273bb734823759
3 N4ab684d993344fcc953c408172b9663b
4 N62326ba91b7c4f0997f00ae6c946c5a3
5 N62f370195928408a9b73ba53718ecd6d
6 N6415ca94ca7645f1a4b30f340bff6d50
7 N646422c90d8949ccaa199f4336ec5958
8 N684f3b9a6df44ac0b9ab27f758f85f46
9 N869213db469e4beca38cac4bf7da7af5
10 Nb91433bb156a4ffeb39a85772b9e39f2
11 Nc7898f35a3f346deb812f14d13fc9e55
12 Nd81c664955a04ca3847796cfe72affd6
13 Neb17c6c42b774087b631b89bcd668cde
14 anzsrc-for:06
15 anzsrc-for:0604
16 anzsrc-for:11
17 anzsrc-for:1103
18 schema:author N0809e8dc10c5425da8a91c11bad94a49
19 schema:citation sg:pub.10.1007/s00109-006-0048-2
20 sg:pub.10.1038/477
21 sg:pub.10.1038/76041
22 sg:pub.10.1038/ng0298-147
23 sg:pub.10.1038/ng1120
24 sg:pub.10.1038/ng1296-392
25 sg:pub.10.1038/ng1309
26 sg:pub.10.1038/sj.ejhg.5201826
27 schema:datePublished 2010-04-16
28 schema:datePublishedReg 2010-04-16
29 schema:description Heterozygous mutations of the gene encoding transcription factor OTX2 were recently shown to be responsible for ocular as well as pituitary abnormalities. Here, we describe a patient with unilateral anophthalmia and short stature. Endocrine evaluation of the hypothalamic–pituitary axis revealed isolated growth hormone deficiency (IGHD) with small anterior pituitary gland, invisible stalk, ectopic posterior lobe, and right anophthalmia on brain magnetic resonance imaging. DNA was analyzed for mutations in the HESX1, SOX2, and OTX2 genes. Molecular analysis yielded a novel heterozygous OTX2 mutation (c.270A>T, p.R90S) within the homeodomain. Functional analysis revealed that the mutation inhibited both the DNA binding and transactivation activities of the protein. This novel loss-of-function mutation is associated with anophthalmia and IGHD in a patient of Sephardic Jewish descent. We recommend that patients with GH deficiency and ocular malformation in whom genetic analysis for classic transcription factor genes (PROP1, POU1F1, HESX1, and LHX4) failed to identify alterations should be checked for the presence of mutations in the OTX2 gene.
30 schema:genre article
31 schema:isAccessibleForFree false
32 schema:isPartOf Nbe85a4b422594e2a9fab88616f5334cd
33 Ncce8cadfe40e4333b6e1c5fa16c2030a
34 sg:journal.1085982
35 schema:keywords DNA
36 DNA binding
37 GH deficiency
38 HESX1
39 Jewish descent
40 OTX2 mutations
41 Otx2
42 Otx2 gene
43 SOX2
44 abnormalities
45 activity
46 alterations
47 analysis
48 anophthalmia
49 anterior pituitary gland
50 axis
51 binding
52 brain magnetic resonance imaging
53 deficiency
54 descent
55 ectopic posterior lobe
56 endocrine evaluation
57 evaluation
58 factor genes
59 function mutations
60 functional analysis
61 genes
62 genetic analysis
63 gland
64 growth hormone deficiency
65 heterozygous mutations
66 homeodomain
67 hormone deficiency
68 hypothalamic-pituitary axis
69 imaging
70 isolated growth hormone deficiency
71 lobe
72 loss
73 magnetic resonance imaging
74 malformations
75 molecular analysis
76 mutations
77 novel loss
78 ocular malformations
79 patients
80 pituitary abnormalities
81 pituitary gland
82 posterior lobe
83 presence
84 presence of mutations
85 protein
86 resonance imaging
87 right anophthalmia
88 short stature
89 small anterior pituitary gland
90 stalk
91 stature
92 transactivation activity
93 transcription factor Otx2
94 transcription factor genes
95 unilateral anophthalmia
96 schema:name A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency
97 schema:pagination 721-729
98 schema:productId N74b94d699ec94f7f8841b9f15d109d94
99 Nc0377e2bd40842029714269ff72258a5
100 Nd7c5b22ec5514c7f951b261f172e6395
101 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017677870
102 https://doi.org/10.1007/s00439-010-0820-9
103 schema:sdDatePublished 2022-09-02T15:53
104 schema:sdLicense https://scigraph.springernature.com/explorer/license/
105 schema:sdPublisher Nb0b43962348e438bb81caf61d4aea320
106 schema:url https://doi.org/10.1007/s00439-010-0820-9
107 sgo:license sg:explorer/license/
108 sgo:sdDataset articles
109 rdf:type schema:ScholarlyArticle
110 N0809e8dc10c5425da8a91c11bad94a49 rdf:first sg:person.0653604012.52
111 rdf:rest Na9874ebe6f724d5981bc21e9a49284f4
112 N183f7fafaa824145b6bb68c5fd953904 rdf:first sg:person.0742322200.68
113 rdf:rest N513618ae7023435a9e60749bd7da595e
114 N1d0f0c50b063439f823279abc56464df rdf:first sg:person.01023477015.64
115 rdf:rest N87904fc5a87a4c37b9e8938671ba97ef
116 N2f781faa74cd44be8f9de9e307e6c4e9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
117 schema:name LIM-Homeodomain Proteins
118 rdf:type schema:DefinedTerm
119 N37a687605d1c47249bf7489579dc288c rdf:first sg:person.0670030555.24
120 rdf:rest Nafa7dc47785a42ce9685a92ff8f92c65
121 N494cc081868f4eb7a7273bb734823759 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
122 schema:name Eye Abnormalities
123 rdf:type schema:DefinedTerm
124 N4ab684d993344fcc953c408172b9663b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
125 schema:name Homeodomain Proteins
126 rdf:type schema:DefinedTerm
127 N513618ae7023435a9e60749bd7da595e rdf:first sg:person.0650304566.86
128 rdf:rest rdf:nil
129 N62326ba91b7c4f0997f00ae6c946c5a3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
130 schema:name Mutation, Missense
131 rdf:type schema:DefinedTerm
132 N62f370195928408a9b73ba53718ecd6d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
133 schema:name Male
134 rdf:type schema:DefinedTerm
135 N6415ca94ca7645f1a4b30f340bff6d50 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
136 schema:name Human Growth Hormone
137 rdf:type schema:DefinedTerm
138 N646422c90d8949ccaa199f4336ec5958 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
139 schema:name Anophthalmos
140 rdf:type schema:DefinedTerm
141 N684f3b9a6df44ac0b9ab27f758f85f46 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
142 schema:name Heterozygote
143 rdf:type schema:DefinedTerm
144 N6bf5117979214009869cdd685ff268c5 rdf:first sg:person.01261555724.86
145 rdf:rest N183f7fafaa824145b6bb68c5fd953904
146 N74b94d699ec94f7f8841b9f15d109d94 schema:name pubmed_id
147 schema:value 20396904
148 rdf:type schema:PropertyValue
149 N869213db469e4beca38cac4bf7da7af5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
150 schema:name Transcription Factors
151 rdf:type schema:DefinedTerm
152 N87904fc5a87a4c37b9e8938671ba97ef rdf:first sg:person.0773240517.43
153 rdf:rest N6bf5117979214009869cdd685ff268c5
154 Na9874ebe6f724d5981bc21e9a49284f4 rdf:first sg:person.01104572451.85
155 rdf:rest N37a687605d1c47249bf7489579dc288c
156 Nafa7dc47785a42ce9685a92ff8f92c65 rdf:first sg:person.01152731344.29
157 rdf:rest N1d0f0c50b063439f823279abc56464df
158 Nb0b43962348e438bb81caf61d4aea320 schema:name Springer Nature - SN SciGraph project
159 rdf:type schema:Organization
160 Nb91433bb156a4ffeb39a85772b9e39f2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
161 schema:name Pituitary Gland, Anterior
162 rdf:type schema:DefinedTerm
163 Nbe85a4b422594e2a9fab88616f5334cd schema:volumeNumber 127
164 rdf:type schema:PublicationVolume
165 Nc0377e2bd40842029714269ff72258a5 schema:name dimensions_id
166 schema:value pub.1017677870
167 rdf:type schema:PropertyValue
168 Nc7898f35a3f346deb812f14d13fc9e55 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
169 schema:name Child, Preschool
170 rdf:type schema:DefinedTerm
171 Ncce8cadfe40e4333b6e1c5fa16c2030a schema:issueNumber 6
172 rdf:type schema:PublicationIssue
173 Nd7c5b22ec5514c7f951b261f172e6395 schema:name doi
174 schema:value 10.1007/s00439-010-0820-9
175 rdf:type schema:PropertyValue
176 Nd81c664955a04ca3847796cfe72affd6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
177 schema:name Otx Transcription Factors
178 rdf:type schema:DefinedTerm
179 Neb17c6c42b774087b631b89bcd668cde schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
180 schema:name Humans
181 rdf:type schema:DefinedTerm
182 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
183 schema:name Biological Sciences
184 rdf:type schema:DefinedTerm
185 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
186 schema:name Genetics
187 rdf:type schema:DefinedTerm
188 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
189 schema:name Medical and Health Sciences
190 rdf:type schema:DefinedTerm
191 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
192 schema:name Clinical Sciences
193 rdf:type schema:DefinedTerm
194 sg:journal.1085982 schema:issn 0340-6717
195 1432-1203
196 schema:name Human Genetics
197 schema:publisher Springer Nature
198 rdf:type schema:Periodical
199 sg:person.01023477015.64 schema:affiliation grid-institutes:grid.174567.6
200 schema:familyName Dateki
201 schema:givenName Sumito
202 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01023477015.64
203 rdf:type schema:Person
204 sg:person.01104572451.85 schema:affiliation grid-institutes:grid.414231.1
205 schema:familyName Lebenthal
206 schema:givenName Yael
207 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104572451.85
208 rdf:type schema:Person
209 sg:person.01152731344.29 schema:affiliation grid-institutes:grid.436474.6
210 schema:familyName Ragge
211 schema:givenName Nicola K.
212 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01152731344.29
213 rdf:type schema:Person
214 sg:person.01261555724.86 schema:affiliation grid-institutes:grid.63906.3a
215 schema:familyName Ogata
216 schema:givenName Tsutomu
217 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01261555724.86
218 rdf:type schema:Person
219 sg:person.0650304566.86 schema:affiliation grid-institutes:grid.12136.37
220 schema:familyName Gat-Yablonski
221 schema:givenName Galia
222 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0650304566.86
223 rdf:type schema:Person
224 sg:person.0653604012.52 schema:affiliation grid-institutes:grid.414231.1
225 schema:familyName Ashkenazi-Hoffnung
226 schema:givenName Liat
227 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653604012.52
228 rdf:type schema:Person
229 sg:person.0670030555.24 schema:affiliation grid-institutes:grid.4991.5
230 schema:familyName Wyatt
231 schema:givenName Alexander W.
232 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0670030555.24
233 rdf:type schema:Person
234 sg:person.0742322200.68 schema:affiliation grid-institutes:grid.12136.37
235 schema:familyName Phillip
236 schema:givenName Moshe
237 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0742322200.68
238 rdf:type schema:Person
239 sg:person.0773240517.43 schema:affiliation grid-institutes:grid.63906.3a
240 schema:familyName Fukami
241 schema:givenName Maki
242 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773240517.43
243 rdf:type schema:Person
244 sg:pub.10.1007/s00109-006-0048-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032265859
245 https://doi.org/10.1007/s00109-006-0048-2
246 rdf:type schema:CreativeWork
247 sg:pub.10.1038/477 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007603004
248 https://doi.org/10.1038/477
249 rdf:type schema:CreativeWork
250 sg:pub.10.1038/76041 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017863328
251 https://doi.org/10.1038/76041
252 rdf:type schema:CreativeWork
253 sg:pub.10.1038/ng0298-147 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030737601
254 https://doi.org/10.1038/ng0298-147
255 rdf:type schema:CreativeWork
256 sg:pub.10.1038/ng1120 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017379368
257 https://doi.org/10.1038/ng1120
258 rdf:type schema:CreativeWork
259 sg:pub.10.1038/ng1296-392 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001582944
260 https://doi.org/10.1038/ng1296-392
261 rdf:type schema:CreativeWork
262 sg:pub.10.1038/ng1309 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012987561
263 https://doi.org/10.1038/ng1309
264 rdf:type schema:CreativeWork
265 sg:pub.10.1038/sj.ejhg.5201826 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005387426
266 https://doi.org/10.1038/sj.ejhg.5201826
267 rdf:type schema:CreativeWork
268 grid-institutes:grid.12136.37 schema:alternateName Felsenstein Medical Research Center, 49202, Petah Tikva, Israel
269 Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
270 schema:name Felsenstein Medical Research Center, 49202, Petah Tikva, Israel
271 Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
272 The Jesse Z and Sara Lea Shafer Institute of Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children’s Medical Center of Israel, 14 Kaplan Street, 49202, Petach Tikva, Israel
273 rdf:type schema:Organization
274 grid-institutes:grid.174567.6 schema:alternateName Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
275 schema:name Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
276 Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
277 rdf:type schema:Organization
278 grid-institutes:grid.414231.1 schema:alternateName The Jesse Z and Sara Lea Shafer Institute of Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children’s Medical Center of Israel, 14 Kaplan Street, 49202, Petach Tikva, Israel
279 schema:name The Jesse Z and Sara Lea Shafer Institute of Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children’s Medical Center of Israel, 14 Kaplan Street, 49202, Petach Tikva, Israel
280 rdf:type schema:Organization
281 grid-institutes:grid.436474.6 schema:alternateName Moorfields Eye Hospital NHS Foundation Trust, EC1V 2PD, London, UK
282 schema:name Department of Physiology, Anatomy and Genetics, University of Oxford, Le Gros Clark Building, OX1 3QX, Oxford, UK
283 Moorfields Eye Hospital NHS Foundation Trust, EC1V 2PD, London, UK
284 rdf:type schema:Organization
285 grid-institutes:grid.4991.5 schema:alternateName Department of Physiology, Anatomy and Genetics, University of Oxford, Le Gros Clark Building, OX1 3QX, Oxford, UK
286 schema:name Department of Physiology, Anatomy and Genetics, University of Oxford, Le Gros Clark Building, OX1 3QX, Oxford, UK
287 rdf:type schema:Organization
288 grid-institutes:grid.63906.3a schema:alternateName Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
289 schema:name Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
290 rdf:type schema:Organization
 




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


...