A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1999-08-01

AUTHORS

N. Okamoto, Makoto Yagi, Kenji Imura, Yoshinao Wada

ABSTRACT

Simpson-Golabi-Behmel syndrome (SGBS) is one of the overgrowth syndromes. Microdeletions of the glypican-3 (GPC3) gene were described by Pilia et al. (1996). Glypican-3 encodes a putative extracellular proteoglycan which is expressed in embryonic mesodermal tissues and plays an important role in embryonal growth. We report a Japanese patient with SGBS who had a single base deletion in the exon 7 of the GPC3 gene. This is the first report of a single base deletion of the GPC3 gene. More... »

PAGES

327-329

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s100380050170

DOI

http://dx.doi.org/10.1007/s100380050170

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1002083858

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/10496077


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/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Abnormalities, Multiple", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Amino Acid Sequence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Base Sequence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Exons", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Glypicans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Growth Disorders", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Heparan Sulfate Proteoglycans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Heparitin Sulfate", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hernia, Diaphragmatic", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant, Newborn", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Proteoglycans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Radiography", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sequence Deletion", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Syndrome", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka 594-1101, Japan Tel. +81-725-56-1220; Fax +81-725-56-5682 e-mail: yb9n-okmt@asahi-net.or.jp, Japan", 
          "id": "http://www.grid.ac/institutes/grid.416629.e", 
          "name": [
            "Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka 594-1101, Japan Tel. +81-725-56-1220; Fax +81-725-56-5682 e-mail: yb9n-okmt@asahi-net.or.jp, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Okamoto", 
        "givenName": "N.", 
        "id": "sg:person.01050753065.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01050753065.21"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pediatric Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan, Japan", 
          "id": "http://www.grid.ac/institutes/grid.416629.e", 
          "name": [
            "Department of Pediatric Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yagi", 
        "givenName": "Makoto", 
        "id": "sg:person.01037237504.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037237504.40"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pediatric Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan, Japan", 
          "id": "http://www.grid.ac/institutes/grid.416629.e", 
          "name": [
            "Department of Pediatric Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Imura", 
        "givenName": "Kenji", 
        "id": "sg:person.0771124304.75", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0771124304.75"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Molecular Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan, Japan", 
          "id": "http://www.grid.ac/institutes/grid.416629.e", 
          "name": [
            "Department of Molecular Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wada", 
        "givenName": "Yoshinao", 
        "id": "sg:person.0700671623.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0700671623.13"
        ], 
        "type": "Person"
      }
    ], 
    "datePublished": "1999-08-01", 
    "datePublishedReg": "1999-08-01", 
    "description": "Abstract Simpson-Golabi-Behmel syndrome (SGBS) is one of the overgrowth syndromes. Microdeletions of the glypican-3 (GPC3) gene were described by Pilia et al. (1996). Glypican-3 encodes a putative extracellular proteoglycan which is expressed in embryonic mesodermal tissues and plays an important role in embryonal growth. We report a Japanese patient with SGBS who had a single base deletion in the exon 7 of the GPC3 gene. This is the first report of a single base deletion of the GPC3 gene.", 
    "genre": "article", 
    "id": "sg:pub.10.1007/s100380050170", 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1294984", 
        "issn": [
          "1434-5161", 
          "1435-232X"
        ], 
        "name": "Journal of Human Genetics", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "5", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "44"
      }
    ], 
    "keywords": [
      "single base deletion", 
      "base deletion", 
      "GPC3 gene", 
      "Simpson-Golabi", 
      "Behmel syndrome", 
      "glypican-3 gene", 
      "mesodermal tissues", 
      "extracellular proteoglycans", 
      "molecular studies", 
      "genes", 
      "exon 7", 
      "embryonal growth", 
      "deletion", 
      "embryonic mesodermal tissues", 
      "first report", 
      "important role", 
      "proteoglycans", 
      "SGBS", 
      "glypican-3", 
      "microdeletion", 
      "growth", 
      "tissue", 
      "role", 
      "overgrowth", 
      "syndrome", 
      "study", 
      "report", 
      "et al", 
      "Japanese patients", 
      "al", 
      "patients"
    ], 
    "name": "A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome", 
    "pagination": "327-329", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1002083858"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s100380050170"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "10496077"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s100380050170", 
      "https://app.dimensions.ai/details/publication/pub.1002083858"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-11-24T20:48", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20221124/entities/gbq_results/article/article_331.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1007/s100380050170"
  }
]
 

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/s100380050170'

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/s100380050170'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s100380050170'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s100380050170'


 

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

181 TRIPLES      20 PREDICATES      72 URIs      64 LITERALS      23 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s100380050170 schema:about N61c98cccd35f407aac6a0c83dce400eb
2 N6d0f4fee2306449ea127661bf57fa6d8
3 N77e8fa1d75fe4f729037a7f592ccceaf
4 N88d0c0919b9b44c598d8d82120bcabf5
5 N8ce17ce8bf2940f189c585835cee78b0
6 N8e3fb91dadea48dabc87ac21ce06a975
7 N8f27b26d81e24967b40367c91162ad7e
8 N916e983df9a7456f961ba7df592ce53f
9 Na158246a97564bf08ceb2de0e6cbc479
10 Na938a3ef8e394ac8ac11754ac49bcbcd
11 Nb922375d009b44d8a4d25a8f83c52996
12 Nbe4c63b3d11f425b9fc0b89c9446f5e6
13 Nd00a7c33bb7643b2b8a28f538ae31892
14 Nf33a8e3207cd4b45b5da9f642421d128
15 Nfc3adb6e6e624c5ebbe5dae5030e8c9d
16 Nfc851fb8e1c6413fa99e1b6502d20b5a
17 anzsrc-for:06
18 anzsrc-for:0604
19 schema:author Nc88debc2f5cc4eeca505e5a5539d4522
20 schema:datePublished 1999-08-01
21 schema:datePublishedReg 1999-08-01
22 schema:description Abstract Simpson-Golabi-Behmel syndrome (SGBS) is one of the overgrowth syndromes. Microdeletions of the glypican-3 (GPC3) gene were described by Pilia et al. (1996). Glypican-3 encodes a putative extracellular proteoglycan which is expressed in embryonic mesodermal tissues and plays an important role in embryonal growth. We report a Japanese patient with SGBS who had a single base deletion in the exon 7 of the GPC3 gene. This is the first report of a single base deletion of the GPC3 gene.
23 schema:genre article
24 schema:isAccessibleForFree true
25 schema:isPartOf N07933df1481343fdbe81ed24aa18be22
26 N818133dd0c6f46c8b7681598d7c97f1a
27 sg:journal.1294984
28 schema:keywords Behmel syndrome
29 GPC3 gene
30 Japanese patients
31 SGBS
32 Simpson-Golabi
33 al
34 base deletion
35 deletion
36 embryonal growth
37 embryonic mesodermal tissues
38 et al
39 exon 7
40 extracellular proteoglycans
41 first report
42 genes
43 glypican-3
44 glypican-3 gene
45 growth
46 important role
47 mesodermal tissues
48 microdeletion
49 molecular studies
50 overgrowth
51 patients
52 proteoglycans
53 report
54 role
55 single base deletion
56 study
57 syndrome
58 tissue
59 schema:name A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome
60 schema:pagination 327-329
61 schema:productId N47f748d4642b4a7aa25fec299b8873bd
62 N5cda0daa76fd40d3a886960eea51645c
63 Na61f506121cf44bcac44fd13cc4515f2
64 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002083858
65 https://doi.org/10.1007/s100380050170
66 schema:sdDatePublished 2022-11-24T20:48
67 schema:sdLicense https://scigraph.springernature.com/explorer/license/
68 schema:sdPublisher N9f281427b6dd4901a30f9188aaaa8108
69 schema:url https://doi.org/10.1007/s100380050170
70 sgo:license sg:explorer/license/
71 sgo:sdDataset articles
72 rdf:type schema:ScholarlyArticle
73 N07933df1481343fdbe81ed24aa18be22 schema:issueNumber 5
74 rdf:type schema:PublicationIssue
75 N2df92a44eada41b198c901a7a425ecb9 rdf:first sg:person.0771124304.75
76 rdf:rest Nd590a63a91ea4570a77dba73116f7cf8
77 N47f748d4642b4a7aa25fec299b8873bd schema:name pubmed_id
78 schema:value 10496077
79 rdf:type schema:PropertyValue
80 N4bda65d4ccd94b7b9e77ea88c967704b rdf:first sg:person.01037237504.40
81 rdf:rest N2df92a44eada41b198c901a7a425ecb9
82 N5cda0daa76fd40d3a886960eea51645c schema:name doi
83 schema:value 10.1007/s100380050170
84 rdf:type schema:PropertyValue
85 N61c98cccd35f407aac6a0c83dce400eb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
86 schema:name Infant, Newborn
87 rdf:type schema:DefinedTerm
88 N6d0f4fee2306449ea127661bf57fa6d8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
89 schema:name Radiography
90 rdf:type schema:DefinedTerm
91 N77e8fa1d75fe4f729037a7f592ccceaf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
92 schema:name Proteoglycans
93 rdf:type schema:DefinedTerm
94 N818133dd0c6f46c8b7681598d7c97f1a schema:volumeNumber 44
95 rdf:type schema:PublicationVolume
96 N88d0c0919b9b44c598d8d82120bcabf5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
97 schema:name Base Sequence
98 rdf:type schema:DefinedTerm
99 N8ce17ce8bf2940f189c585835cee78b0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
100 schema:name Exons
101 rdf:type schema:DefinedTerm
102 N8e3fb91dadea48dabc87ac21ce06a975 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
103 schema:name Sequence Deletion
104 rdf:type schema:DefinedTerm
105 N8f27b26d81e24967b40367c91162ad7e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Hernia, Diaphragmatic
107 rdf:type schema:DefinedTerm
108 N916e983df9a7456f961ba7df592ce53f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
109 schema:name Growth Disorders
110 rdf:type schema:DefinedTerm
111 N9f281427b6dd4901a30f9188aaaa8108 schema:name Springer Nature - SN SciGraph project
112 rdf:type schema:Organization
113 Na158246a97564bf08ceb2de0e6cbc479 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
114 schema:name Glypicans
115 rdf:type schema:DefinedTerm
116 Na61f506121cf44bcac44fd13cc4515f2 schema:name dimensions_id
117 schema:value pub.1002083858
118 rdf:type schema:PropertyValue
119 Na938a3ef8e394ac8ac11754ac49bcbcd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
120 schema:name Amino Acid Sequence
121 rdf:type schema:DefinedTerm
122 Nb922375d009b44d8a4d25a8f83c52996 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
123 schema:name Humans
124 rdf:type schema:DefinedTerm
125 Nbe4c63b3d11f425b9fc0b89c9446f5e6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
126 schema:name Syndrome
127 rdf:type schema:DefinedTerm
128 Nc88debc2f5cc4eeca505e5a5539d4522 rdf:first sg:person.01050753065.21
129 rdf:rest N4bda65d4ccd94b7b9e77ea88c967704b
130 Nd00a7c33bb7643b2b8a28f538ae31892 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
131 schema:name Male
132 rdf:type schema:DefinedTerm
133 Nd590a63a91ea4570a77dba73116f7cf8 rdf:first sg:person.0700671623.13
134 rdf:rest rdf:nil
135 Nf33a8e3207cd4b45b5da9f642421d128 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
136 schema:name Heparitin Sulfate
137 rdf:type schema:DefinedTerm
138 Nfc3adb6e6e624c5ebbe5dae5030e8c9d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
139 schema:name Abnormalities, Multiple
140 rdf:type schema:DefinedTerm
141 Nfc851fb8e1c6413fa99e1b6502d20b5a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
142 schema:name Heparan Sulfate Proteoglycans
143 rdf:type schema:DefinedTerm
144 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
145 schema:name Biological Sciences
146 rdf:type schema:DefinedTerm
147 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
148 schema:name Genetics
149 rdf:type schema:DefinedTerm
150 sg:journal.1294984 schema:issn 1434-5161
151 1435-232X
152 schema:name Journal of Human Genetics
153 schema:publisher Springer Nature
154 rdf:type schema:Periodical
155 sg:person.01037237504.40 schema:affiliation grid-institutes:grid.416629.e
156 schema:familyName Yagi
157 schema:givenName Makoto
158 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037237504.40
159 rdf:type schema:Person
160 sg:person.01050753065.21 schema:affiliation grid-institutes:grid.416629.e
161 schema:familyName Okamoto
162 schema:givenName N.
163 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01050753065.21
164 rdf:type schema:Person
165 sg:person.0700671623.13 schema:affiliation grid-institutes:grid.416629.e
166 schema:familyName Wada
167 schema:givenName Yoshinao
168 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0700671623.13
169 rdf:type schema:Person
170 sg:person.0771124304.75 schema:affiliation grid-institutes:grid.416629.e
171 schema:familyName Imura
172 schema:givenName Kenji
173 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0771124304.75
174 rdf:type schema:Person
175 grid-institutes:grid.416629.e schema:alternateName Department of Molecular Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan, Japan
176 Department of Pediatric Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan, Japan
177 Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka 594-1101, Japan Tel. +81-725-56-1220; Fax +81-725-56-5682 e-mail: yb9n-okmt@asahi-net.or.jp, Japan
178 schema:name Department of Molecular Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan, Japan
179 Department of Pediatric Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan, Japan
180 Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka 594-1101, Japan Tel. +81-725-56-1220; Fax +81-725-56-5682 e-mail: yb9n-okmt@asahi-net.or.jp, Japan
181 rdf:type schema:Organization
 




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


...