Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2000-09

AUTHORS

L S Kirschner, J A Carney, S D Pack, S E Taymans, C Giatzakis, Y S Cho, Y S Cho-Chung, C A Stratakis

ABSTRACT

Carney complex (CNC) is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumours and psammomatous melanotic schwannomas. CNC is inherited as an autosomal dominant trait and the genes responsible have been mapped to 2p16 and 17q22-24 (refs 6, 7). Because of its similarities to the McCune-Albright syndrome and other features, such as paradoxical responses to endocrine signals, genes implicated in cyclic nucleotide-dependent signalling have been considered candidates for causing CNC (ref. 10). In CNC families mapping to 17q, we detected loss of heterozygosity (LOH) in the vicinity of the gene (PRKAR1A) encoding protein kinase A regulatory subunit 1-alpha (RIalpha), including a polymorphic site within its 5' region. We subsequently identified three unrelated kindreds with an identical mutation in the coding region of PRKAR1A. Analysis of additional cases revealed the same mutation in a sporadic case of CNC, and different mutations in three other families, including one with isolated inherited cardiac myxomas. Analysis of PKA activity in CNC tumours demonstrated a decreased basal activity, but an increase in cAMP-stimulated activity compared with non-CNC tumours. We conclude that germline mutations in PRKAR1A, an apparent tumour-suppressor gene, are responsible for the CNC phenotype in a subset of patients with this disease. More... »

PAGES

89-92

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/79238

DOI

http://dx.doi.org/10.1038/79238

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1034260511

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/10973256


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": "Acromegaly", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Alleles", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Blotting, Western", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromatography, High Pressure Liquid", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, Pair 17", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, Pair 2", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cyclic AMP", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cyclic AMP-Dependent Protein Kinases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Mutational Analysis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA, Complementary", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Endocrine Gland Neoplasms", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Exons", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Expressed Sequence Tags", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Family Health", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Germ-Line Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Homozygote", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Introns", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Loss of Heterozygosity", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Microsatellite Repeats", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Molecular Sequence Data", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Myxoma", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Neoplasms", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Neurilemmoma", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Nucleic Acid Heteroduplexes", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Genetic", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Skin Pigmentation", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "National Institute of Child Health and Human Development", 
          "id": "https://www.grid.ac/institutes/grid.420089.7", 
          "name": [
            "Unit on Genetics & Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, Maryland, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kirschner", 
        "givenName": "L S", 
        "id": "sg:person.0631020245.88", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0631020245.88"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Carney", 
        "givenName": "J A", 
        "id": "sg:person.01043240177.11", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01043240177.11"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Pack", 
        "givenName": "S D", 
        "id": "sg:person.01343700457.56", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01343700457.56"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Taymans", 
        "givenName": "S E", 
        "id": "sg:person.01267301476.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01267301476.48"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Giatzakis", 
        "givenName": "C", 
        "type": "Person"
      }, 
      {
        "familyName": "Cho", 
        "givenName": "Y S", 
        "id": "sg:person.01156223300.35", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01156223300.35"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Cho-Chung", 
        "givenName": "Y S", 
        "id": "sg:person.0104651646.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0104651646.31"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Stratakis", 
        "givenName": "C A", 
        "id": "sg:person.011151216517.08", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011151216517.08"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1161/01.cir.98.23.2560", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003319927"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/geno.1998.5411", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012271430"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/382622a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013301219", 
          "https://doi.org/10.1038/382622a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0005-2744(70)90180-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016837597"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0005-2744(70)90180-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016837597"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004390050187", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017255962", 
          "https://doi.org/10.1007/s004390050187"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004390050187", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017255962", 
          "https://doi.org/10.1007/s004390050187"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0025-6196(12)61843-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022149364"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.95.17.10009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023067110"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.89.10.4726", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025501504"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00019616-199201000-00003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027521465"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00019616-199201000-00003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027521465"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/17.16.6463", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027589315"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.272.7.3993", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028795955"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/archinte.1987.00370030047011", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033798949"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm199112123252403", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034803167"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<183::aid-ajmg19>3.0.co;2-i", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037163812"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1172/jci118467", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040696280"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0163-7258(91)90075-w", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043133768"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0163-7258(91)90075-w", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043133768"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/archinte.147.3.443", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1054111577"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1085-5629(05)80003-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1054681310"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/endo.138.1.4864", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064281220"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.81.10.3607", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064298540"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jcem.81.10.8855810", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064319836"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jcem.83.8.5042", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064322014"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.2741/stratakis", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1070918546"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.7326/0003-4819-131-8-199910190-00006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1073703639"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074500492", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1075251846", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1081679227", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2000-09", 
    "datePublishedReg": "2000-09-01", 
    "description": "Carney complex (CNC) is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumours and psammomatous melanotic schwannomas. CNC is inherited as an autosomal dominant trait and the genes responsible have been mapped to 2p16 and 17q22-24 (refs 6, 7). Because of its similarities to the McCune-Albright syndrome and other features, such as paradoxical responses to endocrine signals, genes implicated in cyclic nucleotide-dependent signalling have been considered candidates for causing CNC (ref. 10). In CNC families mapping to 17q, we detected loss of heterozygosity (LOH) in the vicinity of the gene (PRKAR1A) encoding protein kinase A regulatory subunit 1-alpha (RIalpha), including a polymorphic site within its 5' region. We subsequently identified three unrelated kindreds with an identical mutation in the coding region of PRKAR1A. Analysis of additional cases revealed the same mutation in a sporadic case of CNC, and different mutations in three other families, including one with isolated inherited cardiac myxomas. Analysis of PKA activity in CNC tumours demonstrated a decreased basal activity, but an increase in cAMP-stimulated activity compared with non-CNC tumours. We conclude that germline mutations in PRKAR1A, an apparent tumour-suppressor gene, are responsible for the CNC phenotype in a subset of patients with this disease.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/79238", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2718221", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2725507", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "26"
      }
    ], 
    "name": "Mutations of the gene encoding the protein kinase A type I-\u03b1 regulatory\nsubunit in patients with the Carney complex", 
    "pagination": "89-92", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "a3342ce280a047126711f4066bc0dd61ede76dd26b674e8a6c88a616239021f2"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "10973256"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/79238"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1034260511"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/79238", 
      "https://app.dimensions.ai/details/publication/pub.1034260511"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T12:13", 
    "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/v90/0000000361_0000000361/records_53998_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/ng/journal/v26/n1/full/ng0900_89.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.10.1038/79238'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/79238'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/79238'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/79238'


 

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

326 TRIPLES      21 PREDICATES      89 URIs      54 LITERALS      42 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/79238 schema:about N0e7104b059c1498badc6f9524d69165f
2 N159cdf51ff374fb9b8735365a79992a9
3 N1fdf1b555194467eac5214b52dba1353
4 N21b1d2eaf23f4267945ae5d7b08f7e85
5 N26bb52e6b2944310a3b78dd4d25e504e
6 N384e578ec1b945bd909dbd39b865a25b
7 N385a87a1fc5e4a1ca9572c39e15236fc
8 N408603bc0d75488c8cd93cdac115a7a2
9 N4a8187dadc6847658093983fdef7f9aa
10 N51fdf19f8b2f47558afa09832038229d
11 N5a5ab573bf804f959b89b9af154e958f
12 N6c7c6d77492a4a5e82dd2a87232218dd
13 N6d4d0ca735d2475495200557aa32e1a7
14 N70ebfa16ac3441ceb3711155fc8bcc5d
15 N727958044b8a4c0cb8e03abfae3f9201
16 N758f940537564c1ebca993b8ff2fd7a0
17 N81df647c80544abd86969666a8842746
18 N879e0bb3a71f4e6a848814b7d22bde70
19 N8c9bb42350fd4ef68e1a1861ac8d9a44
20 N8e2367b74b934feeb8401205007a9d8a
21 N9527e9d8a4234bf4830e8af2d7e379d2
22 Na43bb82b062346af9fe74c2734e2ee8a
23 Naaaa7577b3d84617ba6bfa5c1e53843d
24 Nb64320e0498442e18be184ba87436624
25 Nca24ffc30799469e818c3f71e2a5bf0d
26 Nccff3dcb27ff4fb4ade27e3262360c39
27 Ncf0c42d7f9284590a4edd2967d52f4fe
28 Nd7bcfed7c6b64078b2c8de4fe9a5e962
29 Nda2c68ace38648e5abdb59cfdfec7d10
30 Ne5f440dd79234fd99edc17f61b286104
31 Neae2e902d72d4ef38ca76fecfb956490
32 Nefa07f354530455299abc489cbe2ff7a
33 Nff3d733701e54d108a87015cc96a60c8
34 anzsrc-for:06
35 anzsrc-for:0604
36 schema:author Nb3f9193630394b479b63d3090fc2548e
37 schema:citation sg:pub.10.1007/s004390050187
38 sg:pub.10.1038/382622a0
39 https://app.dimensions.ai/details/publication/pub.1074500492
40 https://app.dimensions.ai/details/publication/pub.1075251846
41 https://app.dimensions.ai/details/publication/pub.1081679227
42 https://doi.org/10.1001/archinte.147.3.443
43 https://doi.org/10.1001/archinte.1987.00370030047011
44 https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<183::aid-ajmg19>3.0.co;2-i
45 https://doi.org/10.1006/geno.1998.5411
46 https://doi.org/10.1016/0005-2744(70)90180-4
47 https://doi.org/10.1016/0163-7258(91)90075-w
48 https://doi.org/10.1016/s0025-6196(12)61843-6
49 https://doi.org/10.1016/s1085-5629(05)80003-3
50 https://doi.org/10.1056/nejm199112123252403
51 https://doi.org/10.1073/pnas.89.10.4726
52 https://doi.org/10.1073/pnas.95.17.10009
53 https://doi.org/10.1074/jbc.272.7.3993
54 https://doi.org/10.1093/nar/17.16.6463
55 https://doi.org/10.1097/00019616-199201000-00003
56 https://doi.org/10.1161/01.cir.98.23.2560
57 https://doi.org/10.1172/jci118467
58 https://doi.org/10.1210/endo.138.1.4864
59 https://doi.org/10.1210/jc.81.10.3607
60 https://doi.org/10.1210/jcem.81.10.8855810
61 https://doi.org/10.1210/jcem.83.8.5042
62 https://doi.org/10.2741/stratakis
63 https://doi.org/10.7326/0003-4819-131-8-199910190-00006
64 schema:datePublished 2000-09
65 schema:datePublishedReg 2000-09-01
66 schema:description Carney complex (CNC) is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumours and psammomatous melanotic schwannomas. CNC is inherited as an autosomal dominant trait and the genes responsible have been mapped to 2p16 and 17q22-24 (refs 6, 7). Because of its similarities to the McCune-Albright syndrome and other features, such as paradoxical responses to endocrine signals, genes implicated in cyclic nucleotide-dependent signalling have been considered candidates for causing CNC (ref. 10). In CNC families mapping to 17q, we detected loss of heterozygosity (LOH) in the vicinity of the gene (PRKAR1A) encoding protein kinase A regulatory subunit 1-alpha (RIalpha), including a polymorphic site within its 5' region. We subsequently identified three unrelated kindreds with an identical mutation in the coding region of PRKAR1A. Analysis of additional cases revealed the same mutation in a sporadic case of CNC, and different mutations in three other families, including one with isolated inherited cardiac myxomas. Analysis of PKA activity in CNC tumours demonstrated a decreased basal activity, but an increase in cAMP-stimulated activity compared with non-CNC tumours. We conclude that germline mutations in PRKAR1A, an apparent tumour-suppressor gene, are responsible for the CNC phenotype in a subset of patients with this disease.
67 schema:genre research_article
68 schema:inLanguage en
69 schema:isAccessibleForFree false
70 schema:isPartOf N36726e4697d74099a9eb309bc2b1e32b
71 Nb4dd4af1e5504645bcb4f2ad063748a5
72 sg:journal.1103138
73 schema:name Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex
74 schema:pagination 89-92
75 schema:productId N29e2843a3d4844708fcd36be7eff990c
76 N383d68d82c64403ba9727f7393a44678
77 N4fc521ff9d0b45669c8ef2fb35efc84a
78 Nb9dc366ac33a408db53c960233b4ccb3
79 Ncf612191d848431c805dde7c3770e111
80 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034260511
81 https://doi.org/10.1038/79238
82 schema:sdDatePublished 2019-04-11T12:13
83 schema:sdLicense https://scigraph.springernature.com/explorer/license/
84 schema:sdPublisher Na8d6d136eb54475d9181520273a81c6d
85 schema:url http://www.nature.com/ng/journal/v26/n1/full/ng0900_89.html
86 sgo:license sg:explorer/license/
87 sgo:sdDataset articles
88 rdf:type schema:ScholarlyArticle
89 N0477e46baee2426f9513a3d8846cfd16 rdf:first sg:person.01043240177.11
90 rdf:rest N90e2b876933c4f47ab6bd6ca64769b33
91 N089ef0cfcf3f45989d7115ab90ec0504 rdf:first sg:person.011151216517.08
92 rdf:rest rdf:nil
93 N0e7104b059c1498badc6f9524d69165f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
94 schema:name Alleles
95 rdf:type schema:DefinedTerm
96 N159cdf51ff374fb9b8735365a79992a9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
97 schema:name DNA, Complementary
98 rdf:type schema:DefinedTerm
99 N1fdf1b555194467eac5214b52dba1353 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
100 schema:name Family Health
101 rdf:type schema:DefinedTerm
102 N21b1d2eaf23f4267945ae5d7b08f7e85 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
103 schema:name Myxoma
104 rdf:type schema:DefinedTerm
105 N26bb52e6b2944310a3b78dd4d25e504e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Loss of Heterozygosity
107 rdf:type schema:DefinedTerm
108 N29e2843a3d4844708fcd36be7eff990c schema:name dimensions_id
109 schema:value pub.1034260511
110 rdf:type schema:PropertyValue
111 N361c124291364da78a1e224d7875b17f rdf:first sg:person.0104651646.31
112 rdf:rest N089ef0cfcf3f45989d7115ab90ec0504
113 N36726e4697d74099a9eb309bc2b1e32b schema:issueNumber 1
114 rdf:type schema:PublicationIssue
115 N383d68d82c64403ba9727f7393a44678 schema:name nlm_unique_id
116 schema:value 9216904
117 rdf:type schema:PropertyValue
118 N384e578ec1b945bd909dbd39b865a25b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
119 schema:name Nucleic Acid Heteroduplexes
120 rdf:type schema:DefinedTerm
121 N385a87a1fc5e4a1ca9572c39e15236fc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
122 schema:name Blotting, Western
123 rdf:type schema:DefinedTerm
124 N408603bc0d75488c8cd93cdac115a7a2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
125 schema:name Pedigree
126 rdf:type schema:DefinedTerm
127 N476192652809456392b539b83cc2b25b rdf:first sg:person.01156223300.35
128 rdf:rest N361c124291364da78a1e224d7875b17f
129 N4a8187dadc6847658093983fdef7f9aa schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
130 schema:name Female
131 rdf:type schema:DefinedTerm
132 N4fc521ff9d0b45669c8ef2fb35efc84a schema:name doi
133 schema:value 10.1038/79238
134 rdf:type schema:PropertyValue
135 N51fdf19f8b2f47558afa09832038229d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
136 schema:name Chromosomes, Human, Pair 2
137 rdf:type schema:DefinedTerm
138 N5a5ab573bf804f959b89b9af154e958f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
139 schema:name Introns
140 rdf:type schema:DefinedTerm
141 N6c7c6d77492a4a5e82dd2a87232218dd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
142 schema:name Homozygote
143 rdf:type schema:DefinedTerm
144 N6d4d0ca735d2475495200557aa32e1a7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
145 schema:name Neurilemmoma
146 rdf:type schema:DefinedTerm
147 N70ebfa16ac3441ceb3711155fc8bcc5d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
148 schema:name Humans
149 rdf:type schema:DefinedTerm
150 N727958044b8a4c0cb8e03abfae3f9201 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
151 schema:name Neoplasms
152 rdf:type schema:DefinedTerm
153 N758f940537564c1ebca993b8ff2fd7a0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
154 schema:name Phenotype
155 rdf:type schema:DefinedTerm
156 N7973da3384fa4e49ab79fa360523d58f schema:familyName Giatzakis
157 schema:givenName C
158 rdf:type schema:Person
159 N81df647c80544abd86969666a8842746 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
160 schema:name Molecular Sequence Data
161 rdf:type schema:DefinedTerm
162 N879e0bb3a71f4e6a848814b7d22bde70 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
163 schema:name Male
164 rdf:type schema:DefinedTerm
165 N8c9bb42350fd4ef68e1a1861ac8d9a44 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
166 schema:name Mutation
167 rdf:type schema:DefinedTerm
168 N8e2367b74b934feeb8401205007a9d8a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
169 schema:name Germ-Line Mutation
170 rdf:type schema:DefinedTerm
171 N90e2b876933c4f47ab6bd6ca64769b33 rdf:first sg:person.01343700457.56
172 rdf:rest Nb70dba186431430ba18defa0f4202a1d
173 N9527e9d8a4234bf4830e8af2d7e379d2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
174 schema:name Chromosomes, Human, Pair 17
175 rdf:type schema:DefinedTerm
176 N9e253ef4e71a41caa1a8f49e114869f0 rdf:first N7973da3384fa4e49ab79fa360523d58f
177 rdf:rest N476192652809456392b539b83cc2b25b
178 Na43bb82b062346af9fe74c2734e2ee8a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
179 schema:name Exons
180 rdf:type schema:DefinedTerm
181 Na8d6d136eb54475d9181520273a81c6d schema:name Springer Nature - SN SciGraph project
182 rdf:type schema:Organization
183 Naaaa7577b3d84617ba6bfa5c1e53843d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
184 schema:name Expressed Sequence Tags
185 rdf:type schema:DefinedTerm
186 Nb3f9193630394b479b63d3090fc2548e rdf:first sg:person.0631020245.88
187 rdf:rest N0477e46baee2426f9513a3d8846cfd16
188 Nb4dd4af1e5504645bcb4f2ad063748a5 schema:volumeNumber 26
189 rdf:type schema:PublicationVolume
190 Nb64320e0498442e18be184ba87436624 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
191 schema:name Microsatellite Repeats
192 rdf:type schema:DefinedTerm
193 Nb70dba186431430ba18defa0f4202a1d rdf:first sg:person.01267301476.48
194 rdf:rest N9e253ef4e71a41caa1a8f49e114869f0
195 Nb9dc366ac33a408db53c960233b4ccb3 schema:name readcube_id
196 schema:value a3342ce280a047126711f4066bc0dd61ede76dd26b674e8a6c88a616239021f2
197 rdf:type schema:PropertyValue
198 Nca24ffc30799469e818c3f71e2a5bf0d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
199 schema:name Acromegaly
200 rdf:type schema:DefinedTerm
201 Nccff3dcb27ff4fb4ade27e3262360c39 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
202 schema:name Cyclic AMP
203 rdf:type schema:DefinedTerm
204 Ncf0c42d7f9284590a4edd2967d52f4fe schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
205 schema:name Skin Pigmentation
206 rdf:type schema:DefinedTerm
207 Ncf612191d848431c805dde7c3770e111 schema:name pubmed_id
208 schema:value 10973256
209 rdf:type schema:PropertyValue
210 Nd7bcfed7c6b64078b2c8de4fe9a5e962 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
211 schema:name Cyclic AMP-Dependent Protein Kinases
212 rdf:type schema:DefinedTerm
213 Nda2c68ace38648e5abdb59cfdfec7d10 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
214 schema:name DNA Mutational Analysis
215 rdf:type schema:DefinedTerm
216 Ne5f440dd79234fd99edc17f61b286104 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
217 schema:name Chromatography, High Pressure Liquid
218 rdf:type schema:DefinedTerm
219 Neae2e902d72d4ef38ca76fecfb956490 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
220 schema:name Endocrine Gland Neoplasms
221 rdf:type schema:DefinedTerm
222 Nefa07f354530455299abc489cbe2ff7a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
223 schema:name Polymorphism, Genetic
224 rdf:type schema:DefinedTerm
225 Nff3d733701e54d108a87015cc96a60c8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
226 schema:name Genotype
227 rdf:type schema:DefinedTerm
228 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
229 schema:name Biological Sciences
230 rdf:type schema:DefinedTerm
231 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
232 schema:name Genetics
233 rdf:type schema:DefinedTerm
234 sg:grant.2718221 http://pending.schema.org/fundedItem sg:pub.10.1038/79238
235 rdf:type schema:MonetaryGrant
236 sg:grant.2725507 http://pending.schema.org/fundedItem sg:pub.10.1038/79238
237 rdf:type schema:MonetaryGrant
238 sg:journal.1103138 schema:issn 1061-4036
239 1546-1718
240 schema:name Nature Genetics
241 rdf:type schema:Periodical
242 sg:person.01043240177.11 schema:familyName Carney
243 schema:givenName J A
244 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01043240177.11
245 rdf:type schema:Person
246 sg:person.0104651646.31 schema:familyName Cho-Chung
247 schema:givenName Y S
248 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0104651646.31
249 rdf:type schema:Person
250 sg:person.011151216517.08 schema:familyName Stratakis
251 schema:givenName C A
252 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011151216517.08
253 rdf:type schema:Person
254 sg:person.01156223300.35 schema:familyName Cho
255 schema:givenName Y S
256 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01156223300.35
257 rdf:type schema:Person
258 sg:person.01267301476.48 schema:familyName Taymans
259 schema:givenName S E
260 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01267301476.48
261 rdf:type schema:Person
262 sg:person.01343700457.56 schema:familyName Pack
263 schema:givenName S D
264 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01343700457.56
265 rdf:type schema:Person
266 sg:person.0631020245.88 schema:affiliation https://www.grid.ac/institutes/grid.420089.7
267 schema:familyName Kirschner
268 schema:givenName L S
269 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0631020245.88
270 rdf:type schema:Person
271 sg:pub.10.1007/s004390050187 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017255962
272 https://doi.org/10.1007/s004390050187
273 rdf:type schema:CreativeWork
274 sg:pub.10.1038/382622a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013301219
275 https://doi.org/10.1038/382622a0
276 rdf:type schema:CreativeWork
277 https://app.dimensions.ai/details/publication/pub.1074500492 schema:CreativeWork
278 https://app.dimensions.ai/details/publication/pub.1075251846 schema:CreativeWork
279 https://app.dimensions.ai/details/publication/pub.1081679227 schema:CreativeWork
280 https://doi.org/10.1001/archinte.147.3.443 schema:sameAs https://app.dimensions.ai/details/publication/pub.1054111577
281 rdf:type schema:CreativeWork
282 https://doi.org/10.1001/archinte.1987.00370030047011 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033798949
283 rdf:type schema:CreativeWork
284 https://doi.org/10.1002/(sici)1096-8628(19981102)80:2<183::aid-ajmg19>3.0.co;2-i schema:sameAs https://app.dimensions.ai/details/publication/pub.1037163812
285 rdf:type schema:CreativeWork
286 https://doi.org/10.1006/geno.1998.5411 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012271430
287 rdf:type schema:CreativeWork
288 https://doi.org/10.1016/0005-2744(70)90180-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016837597
289 rdf:type schema:CreativeWork
290 https://doi.org/10.1016/0163-7258(91)90075-w schema:sameAs https://app.dimensions.ai/details/publication/pub.1043133768
291 rdf:type schema:CreativeWork
292 https://doi.org/10.1016/s0025-6196(12)61843-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022149364
293 rdf:type schema:CreativeWork
294 https://doi.org/10.1016/s1085-5629(05)80003-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1054681310
295 rdf:type schema:CreativeWork
296 https://doi.org/10.1056/nejm199112123252403 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034803167
297 rdf:type schema:CreativeWork
298 https://doi.org/10.1073/pnas.89.10.4726 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025501504
299 rdf:type schema:CreativeWork
300 https://doi.org/10.1073/pnas.95.17.10009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023067110
301 rdf:type schema:CreativeWork
302 https://doi.org/10.1074/jbc.272.7.3993 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028795955
303 rdf:type schema:CreativeWork
304 https://doi.org/10.1093/nar/17.16.6463 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027589315
305 rdf:type schema:CreativeWork
306 https://doi.org/10.1097/00019616-199201000-00003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027521465
307 rdf:type schema:CreativeWork
308 https://doi.org/10.1161/01.cir.98.23.2560 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003319927
309 rdf:type schema:CreativeWork
310 https://doi.org/10.1172/jci118467 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040696280
311 rdf:type schema:CreativeWork
312 https://doi.org/10.1210/endo.138.1.4864 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064281220
313 rdf:type schema:CreativeWork
314 https://doi.org/10.1210/jc.81.10.3607 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064298540
315 rdf:type schema:CreativeWork
316 https://doi.org/10.1210/jcem.81.10.8855810 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064319836
317 rdf:type schema:CreativeWork
318 https://doi.org/10.1210/jcem.83.8.5042 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064322014
319 rdf:type schema:CreativeWork
320 https://doi.org/10.2741/stratakis schema:sameAs https://app.dimensions.ai/details/publication/pub.1070918546
321 rdf:type schema:CreativeWork
322 https://doi.org/10.7326/0003-4819-131-8-199910190-00006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1073703639
323 rdf:type schema:CreativeWork
324 https://www.grid.ac/institutes/grid.420089.7 schema:alternateName National Institute of Child Health and Human Development
325 schema:name Unit on Genetics & Endocrinology, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, Maryland, USA.
326 rdf:type schema:Organization
 




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


...