Ontology type: schema:ScholarlyArticle
2017-01
AUTHORSYo Han Ahn, Eu Jin Park, Hee Gyung Kang, Seong Heon Kim, Hee Yeon Cho, Jae Il Shin, Joo Hoon Lee, Young Seo Park, Kyo Sun Kim, Il-Soo Ha, Hae Il Cheong
ABSTRACTBACKGROUND: WT1 is one of the genes commonly reported as mutated in children with steroid-resistant nephrotic syndrome (SRNS). We analyzed genotype-phenotype correlations in pediatric SRNS patients with WT1 mutations. METHODS: From 2001 to 2015, WT1 mutations were detected in 21 out of 354 children with SRNS by genetic screening (5.9 %). The patients were grouped into missense (n = 11) and KTS splicing (n = 10) mutation groups. RESULTS: Nine (82 %) patients with missense mutations presented with congenital/infantile nephrotic syndrome, while 8 (80 %) with KTS splicing mutations presented with childhood-onset SRNS. Progression to end-stage renal disease (ESRD) was noted in all patients with missense mutations (median age, 2.6 months; interquartile range [IQR], 0.8 months to 1.7 years) and in 5 patients with KTS splicing mutations (median, 9.3 years; IQR, 3.3-16.5 years). Disorders of sexual development (DSDs) were noted in all 12 patients with a 46, XY karyotype and in only 1 of the 8 patients with a 46, XX karyotype. One patient developed a Wilms tumor and another developed gonadoblastoma. Three patients had a diaphragmatic defect or hernia. CONCLUSIONS: WT1 mutations manifest as a wide spectrum of renal and extra-renal phenotypes. Genetic diagnosis is essential for overall management and to predict the genotype-specific risk of DSDs and the development of malignancies. More... »
PAGES81-89
http://scigraph.springernature.com/pub.10.1007/s00467-016-3395-4
DOIhttp://dx.doi.org/10.1007/s00467-016-3395-4
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1052319392
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/27300205
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": "Adolescent",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Child",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Child, Preschool",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Disorders of Sex Development",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Drug Resistance",
"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": "Glomerulonephritis",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Gonadoblastoma",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Infant",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Infant, Newborn",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Kidney Failure, Chronic",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Male",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Mutation",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Mutation, Missense",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Nephrotic Syndrome",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Ovarian Neoplasms",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Phenotype",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Republic of Korea",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Survival Analysis",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Treatment Outcome",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "WT1 Proteins",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Wilms Tumor",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Hallym University Kangnam Sacred Heart Hospital",
"id": "https://www.grid.ac/institutes/grid.477505.4",
"name": [
"Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul, Korea",
"Hallym University Kangnam Sacred Heart Hospital, Seoul, Korea"
],
"type": "Organization"
},
"familyName": "Ahn",
"givenName": "Yo Han",
"id": "sg:person.01214031446.67",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01214031446.67"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Seoul National University Children's Hospital",
"id": "https://www.grid.ac/institutes/grid.412482.9",
"name": [
"Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul, Korea"
],
"type": "Organization"
},
"familyName": "Park",
"givenName": "Eu Jin",
"id": "sg:person.01264734630.65",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01264734630.65"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Seoul National University Hospital",
"id": "https://www.grid.ac/institutes/grid.412484.f",
"name": [
"Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul, Korea",
"Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea"
],
"type": "Organization"
},
"familyName": "Kang",
"givenName": "Hee Gyung",
"id": "sg:person.01326241545.16",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01326241545.16"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"Department of Pediatrics, Pusan National University Children\u2019s Hospital, Yangsan, Korea"
],
"type": "Organization"
},
"familyName": "Kim",
"givenName": "Seong Heon",
"id": "sg:person.0604722030.24",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0604722030.24"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Samsung Medical Center",
"id": "https://www.grid.ac/institutes/grid.414964.a",
"name": [
"Department of Pediatrics, Samsung Medical Center, Seoul, Korea"
],
"type": "Organization"
},
"familyName": "Cho",
"givenName": "Hee Yeon",
"id": "sg:person.01354231465.21",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354231465.21"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Yonsei University",
"id": "https://www.grid.ac/institutes/grid.15444.30",
"name": [
"Department of Pediatrics, Yonsei University College of Medicine, Severance Children\u2019s Hospital, Seoul, Korea"
],
"type": "Organization"
},
"familyName": "Shin",
"givenName": "Jae Il",
"id": "sg:person.01310007635.50",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01310007635.50"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Asan Medical Center",
"id": "https://www.grid.ac/institutes/grid.413967.e",
"name": [
"Department of Pediatrics, Asan Medical Center, Seoul, Korea"
],
"type": "Organization"
},
"familyName": "Lee",
"givenName": "Joo Hoon",
"id": "sg:person.0651440345.36",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0651440345.36"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Asan Medical Center",
"id": "https://www.grid.ac/institutes/grid.413967.e",
"name": [
"Department of Pediatrics, Asan Medical Center, Seoul, Korea"
],
"type": "Organization"
},
"familyName": "Park",
"givenName": "Young Seo",
"id": "sg:person.015520252124.19",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015520252124.19"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Konkuk University Medical Center",
"id": "https://www.grid.ac/institutes/grid.411120.7",
"name": [
"Department of Pediatrics, Konkuk University Hospital, Seoul, Korea"
],
"type": "Organization"
},
"familyName": "Kim",
"givenName": "Kyo Sun",
"id": "sg:person.0614060613.20",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0614060613.20"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Seoul National University",
"id": "https://www.grid.ac/institutes/grid.31501.36",
"name": [
"Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul, Korea",
"Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea"
],
"type": "Organization"
},
"familyName": "Ha",
"givenName": "Il-Soo",
"id": "sg:person.0602635445.45",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602635445.45"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Seoul National University",
"id": "https://www.grid.ac/institutes/grid.31501.36",
"name": [
"Department of Pediatrics, Seoul National University Children\u2019s Hospital, Seoul, Korea",
"Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea",
"Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea"
],
"type": "Organization"
},
"familyName": "Cheong",
"givenName": "Hae Il",
"id": "sg:person.01135777524.13",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01135777524.13"
],
"type": "Person"
}
],
"citation": [
{
"id": "https://doi.org/10.1111/ajt.12004",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1000150633"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.a.32168",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1001552133"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.1320410420",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1003816397"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.1320410420",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1003816397"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.mce.2015.01.009",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004819866"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1053/j.ajkd.2011.09.007",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005120131"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.2215/cjn.06260614",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005253336"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00431-011-1450-5",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005577578",
"https://doi.org/10.1007/s00431-011-1450-5"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.3346/jkms.2006.21.1.160",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005868337"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.3346/jkms.2006.21.1.160",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005868337"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1046/j.1523-1755.1998.00948.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1010192085",
"https://doi.org/10.1046/j.1523-1755.1998.00948.x"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng1297-467",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1013162213",
"https://doi.org/10.1038/ng1297-467"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/ndtplus/sfp176",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1015605811"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1152/ajprenal.00597.2007",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1019573968"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ki.2013.519",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1021934932",
"https://doi.org/10.1038/ki.2013.519"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00467-006-0208-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022484112",
"https://doi.org/10.1007/s00467-006-0208-1"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00467-006-0208-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022484112",
"https://doi.org/10.1007/s00467-006-0208-1"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.urolonc.2015.07.002",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024718308"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/pbc.21759",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1025353821"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.2215/cjn.09351209",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1026634295"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s004670000537",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1037775281",
"https://doi.org/10.1007/s004670000537"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ki.2015.198",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1038382956",
"https://doi.org/10.1038/ki.2015.198"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/346194a0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1038446786",
"https://doi.org/10.1038/346194a0"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.a.30015",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1039835855"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00467-006-0273-5",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041058646",
"https://doi.org/10.1007/s00467-006-0273-5"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00467-006-0273-5",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041058646",
"https://doi.org/10.1007/s00467-006-0273-5"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.a.31924",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041449609"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1681/asn.2014050489",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1042932747"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1681/asn.2014050489",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1042932747"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.2215/cjn.10141014",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047454321"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.1320570120",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049401963"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.1320570120",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049401963"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0022-3476(05)80839-x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1050449754"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00467-007-0620-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1053444254",
"https://doi.org/10.1007/s00467-007-0620-1"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00467-007-0620-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1053444254",
"https://doi.org/10.1007/s00467-007-0620-1"
],
"type": "CreativeWork"
}
],
"datePublished": "2017-01",
"datePublishedReg": "2017-01-01",
"description": "BACKGROUND: WT1 is one of the genes commonly reported as mutated in children with steroid-resistant nephrotic syndrome (SRNS). We analyzed genotype-phenotype correlations in pediatric SRNS patients with WT1 mutations.\nMETHODS: From 2001 to 2015, WT1 mutations were detected in 21 out of 354 children with SRNS by genetic screening (5.9\u00a0%). The patients were grouped into missense (n\u2009=\u200911) and KTS splicing (n\u2009=\u200910) mutation groups.\nRESULTS: Nine (82\u00a0%) patients with missense mutations presented with congenital/infantile nephrotic syndrome, while 8 (80\u00a0%) with KTS splicing mutations presented with childhood-onset SRNS. Progression to end-stage renal disease (ESRD) was noted in all patients with missense mutations (median age, 2.6\u00a0months; interquartile range [IQR], 0.8\u00a0months to 1.7\u00a0years) and in 5 patients with KTS splicing mutations (median, 9.3\u00a0years; IQR, 3.3-16.5\u00a0years). Disorders of sexual development (DSDs) were noted in all 12 patients with a 46, XY karyotype and in only 1 of the 8 patients with a 46, XX karyotype. One patient developed a Wilms tumor and another developed gonadoblastoma. Three patients had a diaphragmatic defect or hernia.\nCONCLUSIONS: WT1 mutations manifest as a wide spectrum of renal and extra-renal phenotypes. Genetic diagnosis is essential for overall management and to predict the genotype-specific risk of DSDs and the development of malignancies.",
"genre": "research_article",
"id": "sg:pub.10.1007/s00467-016-3395-4",
"inLanguage": [
"en"
],
"isAccessibleForFree": false,
"isPartOf": [
{
"id": "sg:journal.1097267",
"issn": [
"0931-041X",
"1432-198X"
],
"name": "Pediatric Nephrology",
"type": "Periodical"
},
{
"issueNumber": "1",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "32"
}
],
"name": "Genotype\u2013phenotype analysis of pediatric patients with WT1 glomerulopathy",
"pagination": "81-89",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"f937262350d755664d083575a22501d9c8a565a9b6ed3bde3b9401cfba22dcdd"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"27300205"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"8708728"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1007/s00467-016-3395-4"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1052319392"
]
}
],
"sameAs": [
"https://doi.org/10.1007/s00467-016-3395-4",
"https://app.dimensions.ai/details/publication/pub.1052319392"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-11T12:36",
"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/v90/0000000363_0000000363/records_70028_00000002.jsonl",
"type": "ScholarlyArticle",
"url": "https://link.springer.com/10.1007%2Fs00467-016-3395-4"
}
]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/s00467-016-3395-4'
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/s00467-016-3395-4'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00467-016-3395-4'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00467-016-3395-4'
This table displays all metadata directly associated to this object as RDF triples.
356 TRIPLES
21 PREDICATES
81 URIs
45 LITERALS
33 BLANK NODES