Ontology type: schema:ScholarlyArticle
2002-10
AUTHORSTerho Latvala, Eila Mustonen, Raimo Uusitalo, Kari Majamaa
ABSTRACTBACKGROUND: Our objective was to determine the penetrance of retinal pigment epithelium (RPE) abnormalities and other ophthalmologic manifestations in patients with the 3243A-->G mutation in mitochondrial DNA. METHODS: Adult members in two generations were examined from a population-based cohort of 13 pedigrees with 3243A-->G. Twenty-six patients underwent a thorough ophthalmological examination. A chart review was carried out on an additional 44 patients. RESULTS: Paramacular RPE atrophy and areas of hyperpigmentation were found in 10 patients (38%; 95% confidence interval 20-59%). Electroretinography was normal in only one of the eight patients tested, whereas dark adaptation was abnormal in two. RPE abnormalities were associated with more severe clinical phenotypes and higher degrees of 3243A-->G mutation heteroplasmy in muscle. Ten patients had diabetes mellitus, nine of whom had also RPE abnormalities. This finding, however, reflected the severity of the phenotype, and diabetic retinopathy was confidently diagnosed in only two patients. External ophthalmoplegia was detected in occasional patients. CONCLUSION: RPE abnormalities were found in this population-based cohort at a frequency that was lower than that reported earlier. RPE abnormalities were associated with more severe phenotypes, suggesting that they are expressed in patients with syndromic features. RPE abnormalities and diabetes mellitus co-occurred frequently, but diabetic retinopathy was not common. More... »
PAGES795-801
http://scigraph.springernature.com/pub.10.1007/s00417-002-0555-y
DOIhttp://dx.doi.org/10.1007/s00417-002-0555-y
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1001452609
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/12397426
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/2008/1103",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Clinical 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"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Adult",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Aged",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Alanine",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "DNA, Mitochondrial",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Eye Diseases",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Glycine",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "MELAS Syndrome",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Male",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Middle Aged",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Mutation",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Pigment Epithelium of Eye",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Retinal Diseases",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "University of Oulu",
"id": "https://www.grid.ac/institutes/grid.10858.34",
"name": [
"Department of Ophthalmology, University of Oulu, Oulu, Finland"
],
"type": "Organization"
},
"familyName": "Latvala",
"givenName": "Terho",
"id": "sg:person.0757327014.83",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0757327014.83"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Oulu",
"id": "https://www.grid.ac/institutes/grid.10858.34",
"name": [
"Department of Ophthalmology, University of Oulu, Oulu, Finland"
],
"type": "Organization"
},
"familyName": "Mustonen",
"givenName": "Eila",
"id": "sg:person.046752761.94",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.046752761.94"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Jorvi Hospital",
"id": "https://www.grid.ac/institutes/grid.414747.5",
"name": [
"Department of Ophthalmology, Jorvi Hospital, Espoo, Finland"
],
"type": "Organization"
},
"familyName": "Uusitalo",
"givenName": "Raimo",
"id": "sg:person.01220065640.85",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01220065640.85"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Oulu",
"id": "https://www.grid.ac/institutes/grid.10858.34",
"name": [
"Department of Neurology, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland"
],
"type": "Organization"
},
"familyName": "Majamaa",
"givenName": "Kari",
"id": "sg:person.01315203771.62",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01315203771.62"
],
"type": "Person"
}
],
"citation": [
{
"id": "https://doi.org/10.1016/s1357-4310(00)01805-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1000062054"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1006/exer.1994.1144",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1000595297"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1600-0749.1999.tb00755.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1007956064"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0161-6420(99)90244-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011184920"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0161-6420(99)90244-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011184920"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/331717a0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1012494215",
"https://doi.org/10.1038/331717a0"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/00006982-199705000-00008",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1013076038"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/00006982-199705000-00008",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1013076038"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1056/nejm199404073301403",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1015652303"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s004390100475",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1017573548",
"https://doi.org/10.1007/s004390100475"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s004390100475",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1017573548",
"https://doi.org/10.1007/s004390100475"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1006/exer.1997.0402",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1019054315"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1034/j.1600-0420.1998.760103.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1019113476"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1001/archopht.1958.00940080296016",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1026160589"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ana.410160409",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1026282205"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/348651a0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1027941299",
"https://doi.org/10.1038/348651a0"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1469-7793.1999.00745.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1028533817"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/bf00878873",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1029606048",
"https://doi.org/10.1007/bf00878873"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1001/archopht.1987.01060050083043",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1030282718"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0002-9394(14)70787-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1033287739"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0161-6420(99)90356-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1033348893"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0161-6420(99)90356-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1033348893"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0925-4439(99)00081-2",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1035447995"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0098-2997(97)00041-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1038713842"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1001/archopht.1993.01090090106028",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1040166742"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1001/archneur.1993.00540090074013",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1044015178"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1006/exer.1999.0766",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1045723221"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0002-9394(14)72615-7",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047311670"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0002-9394(99)00057-4",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047992471"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0161-6420(13)31404-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1050154292"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0925-4439(95)00020-5",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1053287990"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1055/s-2008-1046280",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1057540319"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/301959",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058609552"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1126/science.3201231",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1062598995"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1212/wnl.49.4.1013",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1064375371"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1212/wnl.49.4.1013",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1064375371"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1212/wnl.49.4.1013",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1064375371"
],
"type": "CreativeWork"
}
],
"datePublished": "2002-10",
"datePublishedReg": "2002-10-01",
"description": "BACKGROUND: Our objective was to determine the penetrance of retinal pigment epithelium (RPE) abnormalities and other ophthalmologic manifestations in patients with the 3243A-->G mutation in mitochondrial DNA.\nMETHODS: Adult members in two generations were examined from a population-based cohort of 13 pedigrees with 3243A-->G. Twenty-six patients underwent a thorough ophthalmological examination. A chart review was carried out on an additional 44 patients.\nRESULTS: Paramacular RPE atrophy and areas of hyperpigmentation were found in 10 patients (38%; 95% confidence interval 20-59%). Electroretinography was normal in only one of the eight patients tested, whereas dark adaptation was abnormal in two. RPE abnormalities were associated with more severe clinical phenotypes and higher degrees of 3243A-->G mutation heteroplasmy in muscle. Ten patients had diabetes mellitus, nine of whom had also RPE abnormalities. This finding, however, reflected the severity of the phenotype, and diabetic retinopathy was confidently diagnosed in only two patients. External ophthalmoplegia was detected in occasional patients.\nCONCLUSION: RPE abnormalities were found in this population-based cohort at a frequency that was lower than that reported earlier. RPE abnormalities were associated with more severe phenotypes, suggesting that they are expressed in patients with syndromic features. RPE abnormalities and diabetes mellitus co-occurred frequently, but diabetic retinopathy was not common.",
"genre": "research_article",
"id": "sg:pub.10.1007/s00417-002-0555-y",
"inLanguage": [
"en"
],
"isAccessibleForFree": false,
"isPartOf": [
{
"id": "sg:journal.1005670",
"issn": [
"0941-2921",
"1435-702X"
],
"name": "Graefe's Archive for Clinical and Experimental Ophthalmology",
"type": "Periodical"
},
{
"issueNumber": "10",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "240"
}
],
"name": "Pigmentary retinopathy in patients with the MELAS mutation 3243A\u2192G in mitochondrial DNA",
"pagination": "795-801",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"06eb9df0d0f28922d9b157bb27864787db858fd405cc398d84b77c11fac429d2"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"12397426"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"8205248"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1007/s00417-002-0555-y"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1001452609"
]
}
],
"sameAs": [
"https://doi.org/10.1007/s00417-002-0555-y",
"https://app.dimensions.ai/details/publication/pub.1001452609"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-10T23:18",
"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_8693_00000485.jsonl",
"type": "ScholarlyArticle",
"url": "http://link.springer.com/10.1007/s00417-002-0555-y"
}
]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/s00417-002-0555-y'
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/s00417-002-0555-y'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00417-002-0555-y'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00417-002-0555-y'
This table displays all metadata directly associated to this object as RDF triples.
247 TRIPLES
21 PREDICATES
74 URIs
35 LITERALS
23 BLANK NODES