Ontology type: schema:ScholarlyArticle
2011-09
AUTHORSCaterina Pelosini, Silvia Martinelli, Brunella Bagattini, Enrico Pucci, Paola Fierabracci, Giovanna Scartabelli, Guido Salvetti, Paolo Vitti, Margherita Maffei, Aldo Pinchera, Ferruccio Santini
ABSTRACTA 54-year-old Italian female patient was admitted to our Department with the diagnosis of type 2 diabetes poorly controlled with insulin therapy. The patient was born by consanguineous parents (first degree cousins); she had acromegaloid features, diffuse lipoatrophy and muscular pseudo-hypertrophy since childhood. To confirm the clinical hypothesis of congenital generalized lipodystrophy (CGL) or Berardinelli-Seip syndrome, the sequences of AGPAT2 (encoding for 1-acyl-sn-glycerol-3-phosphate acyltransferase beta) and BSCL2 (encoding for seipin) candidate genes were analyzed. DNA analysis showed the presence of a homozygous mutation in exon 3 of the AGPAT2 gene (P112L). This is the first description of a Caucasian subject with CGL who carries the pathologic allelic variant P112L of the AGPAT2 gene. More... »
PAGES243
http://scigraph.springernature.com/pub.10.1007/s00592-011-0308-7
DOIhttp://dx.doi.org/10.1007/s00592-011-0308-7
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1028587093
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/21744063
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": "Acyltransferases",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Alleles",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Base Sequence",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Consanguinity",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "DNA Mutational Analysis",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "European Continental Ancestry Group",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetic Variation",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Lipodystrophy, Congenital Generalized",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Middle Aged",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Models, Biological",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Pedigree",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Azienda Ospedaliera Universitaria Pisana",
"id": "https://www.grid.ac/institutes/grid.144189.1",
"name": [
"Department of Endocrinology and Kidney, University Hospital of Pisa, Pisa, Italy"
],
"type": "Organization"
},
"familyName": "Pelosini",
"givenName": "Caterina",
"id": "sg:person.0661622357.30",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0661622357.30"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Azienda Ospedaliera Universitaria Pisana",
"id": "https://www.grid.ac/institutes/grid.144189.1",
"name": [
"Department of Endocrinology and Kidney, University Hospital of Pisa, Pisa, Italy"
],
"type": "Organization"
},
"familyName": "Martinelli",
"givenName": "Silvia",
"id": "sg:person.01055635307.91",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01055635307.91"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Azienda Ospedaliera Universitaria Pisana",
"id": "https://www.grid.ac/institutes/grid.144189.1",
"name": [
"Department of Endocrinology and Kidney, University Hospital of Pisa, Pisa, Italy"
],
"type": "Organization"
},
"familyName": "Bagattini",
"givenName": "Brunella",
"id": "sg:person.01011544036.84",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01011544036.84"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Azienda Ospedaliera Universitaria Pisana",
"id": "https://www.grid.ac/institutes/grid.144189.1",
"name": [
"Department of Endocrinology and Kidney, University Hospital of Pisa, Pisa, Italy"
],
"type": "Organization"
},
"familyName": "Pucci",
"givenName": "Enrico",
"id": "sg:person.0727541432.50",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0727541432.50"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Azienda Ospedaliera Universitaria Pisana",
"id": "https://www.grid.ac/institutes/grid.144189.1",
"name": [
"Department of Endocrinology and Kidney, University Hospital of Pisa, Pisa, Italy"
],
"type": "Organization"
},
"familyName": "Fierabracci",
"givenName": "Paola",
"id": "sg:person.01302451207.28",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01302451207.28"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Azienda Ospedaliera Universitaria Pisana",
"id": "https://www.grid.ac/institutes/grid.144189.1",
"name": [
"Department of Endocrinology and Kidney, University Hospital of Pisa, Pisa, Italy"
],
"type": "Organization"
},
"familyName": "Scartabelli",
"givenName": "Giovanna",
"id": "sg:person.01351643722.37",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01351643722.37"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Azienda Ospedaliera Universitaria Pisana",
"id": "https://www.grid.ac/institutes/grid.144189.1",
"name": [
"Department of Endocrinology and Kidney, University Hospital of Pisa, Pisa, Italy"
],
"type": "Organization"
},
"familyName": "Salvetti",
"givenName": "Guido",
"id": "sg:person.01313770306.19",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313770306.19"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Azienda Ospedaliera Universitaria Pisana",
"id": "https://www.grid.ac/institutes/grid.144189.1",
"name": [
"Department of Endocrinology and Kidney, University Hospital of Pisa, Pisa, Italy"
],
"type": "Organization"
},
"familyName": "Vitti",
"givenName": "Paolo",
"id": "sg:person.0777360014.47",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0777360014.47"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institute of Food Science",
"id": "https://www.grid.ac/institutes/grid.429574.9",
"name": [
"Department of Endocrinology and Kidney, University Hospital of Pisa, Pisa, Italy",
"Institute of Food Sciences, CNR, Avellino, Italy"
],
"type": "Organization"
},
"familyName": "Maffei",
"givenName": "Margherita",
"id": "sg:person.0631021407.67",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0631021407.67"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Azienda Ospedaliera Universitaria Pisana",
"id": "https://www.grid.ac/institutes/grid.144189.1",
"name": [
"Department of Endocrinology and Kidney, University Hospital of Pisa, Pisa, Italy"
],
"type": "Organization"
},
"familyName": "Pinchera",
"givenName": "Aldo",
"id": "sg:person.01344402654.02",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01344402654.02"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Azienda Ospedaliera Universitaria Pisana",
"id": "https://www.grid.ac/institutes/grid.144189.1",
"name": [
"Department of Endocrinology and Kidney, University Hospital of Pisa, Pisa, Italy"
],
"type": "Organization"
},
"familyName": "Santini",
"givenName": "Ferruccio",
"id": "sg:person.01226525757.06",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01226525757.06"
],
"type": "Person"
}
],
"citation": [
{
"id": "https://doi.org/10.1046/j.1365-2265.1998.00557.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1001594572"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00592-009-0126-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002489694",
"https://doi.org/10.1007/s00592-009-0126-3"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00592-009-0126-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002489694",
"https://doi.org/10.1007/s00592-009-0126-3"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00592-009-0126-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002489694",
"https://doi.org/10.1007/s00592-009-0126-3"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.metabol.2008.04.008",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004120289"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng880",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1007676747",
"https://doi.org/10.1038/ng880"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng880",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1007676747",
"https://doi.org/10.1038/ng880"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.2337/diabetes.52.6.1573",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1009586507"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/sj.ijo.0802487",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1009891034",
"https://doi.org/10.1038/sj.ijo.0802487"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/sj.ijo.0802487",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1009891034",
"https://doi.org/10.1038/sj.ijo.0802487"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.2337/dc07-0025",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1010162655"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf03346252",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011919873",
"https://doi.org/10.1007/bf03346252"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.cca.2008.12.032",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1015153433"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.4158/ep09155.ra",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1015193150"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1146/annurev.med.57.022605.114424",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1015362799"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1074/jbc.m509612200",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1025455096"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1056/nejmra025261",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1025659762"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/jmg.39.10.722",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1030437225"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00592-009-0129-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1036578255",
"https://doi.org/10.1007/s00592-009-0129-0"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00592-009-0129-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1036578255",
"https://doi.org/10.1007/s00592-009-0129-0"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1172/jci38660",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1052222542"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1172/jci38660",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1052222542"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1371/journal.pone.0007038",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1053655167"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1210/jc.2003-030415",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1064286841"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1210/jc.2003-030855",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1064287039"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1210/jc.2007-1328",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1064290119"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1210/jcem.87.2.8216",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1064324924"
],
"type": "CreativeWork"
}
],
"datePublished": "2011-09",
"datePublishedReg": "2011-09-01",
"description": "A 54-year-old Italian female patient was admitted to our Department with the diagnosis of type 2 diabetes poorly controlled with insulin therapy. The patient was born by consanguineous parents (first degree cousins); she had acromegaloid features, diffuse lipoatrophy and muscular pseudo-hypertrophy since childhood. To confirm the clinical hypothesis of congenital generalized lipodystrophy (CGL) or Berardinelli-Seip syndrome, the sequences of AGPAT2 (encoding for 1-acyl-sn-glycerol-3-phosphate acyltransferase beta) and BSCL2 (encoding for seipin) candidate genes were analyzed. DNA analysis showed the presence of a homozygous mutation in exon 3 of the AGPAT2 gene (P112L). This is the first description of a Caucasian subject with CGL who carries the pathologic allelic variant P112L of the AGPAT2 gene.",
"genre": "research_article",
"id": "sg:pub.10.1007/s00592-011-0308-7",
"inLanguage": [
"en"
],
"isAccessibleForFree": false,
"isPartOf": [
{
"id": "sg:journal.1008525",
"issn": [
"0940-5429",
"1432-5233"
],
"name": "Acta Diabetologica",
"type": "Periodical"
},
{
"issueNumber": "3",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "48"
}
],
"name": "Description of an AGPAT2 pathologic allelic variant in a 54-year-old Caucasian woman with Berardinelli-Seip syndrome",
"pagination": "243",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"882e4bdc1f5137a8bfda9e1c95a642e6a0ba55b15481b8dacd6b75fddaf9dba0"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"21744063"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"9200299"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1007/s00592-011-0308-7"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1028587093"
]
}
],
"sameAs": [
"https://doi.org/10.1007/s00592-011-0308-7",
"https://app.dimensions.ai/details/publication/pub.1028587093"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-10T13:17",
"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/v90/0000000001_0000000264/records_8659_00000513.jsonl",
"type": "ScholarlyArticle",
"url": "http://link.springer.com/10.1007%2Fs00592-011-0308-7"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
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/s00592-011-0308-7'
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/s00592-011-0308-7'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00592-011-0308-7'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00592-011-0308-7'
This table displays all metadata directly associated to this object as RDF triples.
263 TRIPLES
21 PREDICATES
63 URIs
34 LITERALS
22 BLANK NODES