A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Hye Sun Hyun, Seong Heon Kim, Eujin Park, Myung Hyun Cho, Hee Gyung Kang, Hyun Soon Lee, Noriko Miyake, Naomichi Matsumoto, Hiroyasu Tsukaguchi, Hae Il Cheong

ABSTRACT

BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a rare hereditary renal-neurological disease characterized by early-onset steroid-resistant nephrotic syndrome in combination with microcephaly and brain anomalies. Recently, novel causative mutations for this disease have been identified in the genes encoding the four KEOPS subunits: OSGEP, TP53RK, TPRKB, and LAGE3. CASE PRESENTATION: We detected a novel homozygous TP53RK mutation (NM_033550, c.194A > T, p.Lys65Met) using whole exome sequencing in a familial case of GAMOS with three affected siblings. All three patients manifested similar phenotypes, including very early-onset nephrotic syndrome (8 days, 1 day, and 1 day after birth, respectively), microcephaly, dysmorphic faces, and early fatality (10 months, 21 days, and 25 days of age, respectively). One patient also showed hiatal hernia with gastric volvulus. Renal biopsy performed on one patient revealed focal segmental glomerulosclerosis with severe tubulo-interstitial changes. CONCLUSION: We report on a familial case of GAMOS with three affected siblings carrying a novel homozygous TP53RK mutation. To our knowledge, this is only the second report on GAMOS in association with a TP53RK mutation. More... »

PAGES

131

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s12881-018-0649-y

DOI

http://dx.doi.org/10.1186/s12881-018-0649-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1105880778

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30053862


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/2008/1109", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Neurosciences", 
        "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"
      }
    ], 
    "author": [
      {
        "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, 101 Daehak-Ro, Jongno-Gu, 03080, Seoul, South Korea"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hyun", 
        "givenName": "Hye Sun", 
        "id": "sg:person.016010156355.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016010156355.51"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Pediatrics, Pusan National University Children\u2019s Hospital, Yangsan, South 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": "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, 101 Daehak-Ro, Jongno-Gu, 03080, Seoul, South Korea"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Park", 
        "givenName": "Eujin", 
        "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 Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412482.9", 
          "name": [
            "Department of Pediatrics, Seoul National University Children\u2019s Hospital, 101 Daehak-Ro, Jongno-Gu, 03080, Seoul, South Korea"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cho", 
        "givenName": "Myung Hyun", 
        "id": "sg:person.015140730155.73", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015140730155.73"
        ], 
        "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, 101 Daehak-Ro, Jongno-Gu, 03080, Seoul, South Korea", 
            "Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, South 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": [
            "Renal Pathology Lab, Hankook Kidney and Diabetes Institute, Seoul, South Korea"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lee", 
        "givenName": "Hyun Soon", 
        "id": "sg:person.014357233714.08", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014357233714.08"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Yokohama City University", 
          "id": "https://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Miyake", 
        "givenName": "Noriko", 
        "id": "sg:person.01027727764.75", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027727764.75"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Yokohama City University", 
          "id": "https://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Matsumoto", 
        "givenName": "Naomichi", 
        "id": "sg:person.01020376771.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01020376771.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kansai Medical University", 
          "id": "https://www.grid.ac/institutes/grid.410783.9", 
          "name": [
            "Second Department of Internal Medicine, Kansai Medical University, Osaka, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tsukaguchi", 
        "givenName": "Hiroyasu", 
        "id": "sg:person.012721257551.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012721257551.39"
        ], 
        "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, 101 Daehak-Ro, Jongno-Gu, 03080, Seoul, South Korea", 
            "Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea", 
            "Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, South 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/10.1074/jbc.m200253200", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005402529"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/awv153", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007602488"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.22828", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011931689"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/jhg.2016.154", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014105971", 
          "https://doi.org/10.1038/jhg.2016.154"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2015.08.013", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015019482"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmedgenet-2014-102707", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024449358"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/pd.1183", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025692108"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/pd.1183", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025692108"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ki.1994.184", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026031111", 
          "https://doi.org/10.1038/ki.1994.184"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cca.2016.10.029", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029335660"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1038/emboj.2010.343", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029690973"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.5.4.319", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034243935"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320580310", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041851931"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320580310", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041851931"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2014.10.011", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042038964"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gkr178", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042697261"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1038/emboj.2010.363", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045004844"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.37533", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045242817"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gkw1181", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059932108"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/ndt/gfw103", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059933368"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1077519909", 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2017.30", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084127995", 
          "https://doi.org/10.1038/ejhg.2017.30"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmedgenet-2016-104237", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084225590"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1091/mbc.e17-01-0022", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1090778694"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3933", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091211992", 
          "https://doi.org/10.1038/ng.3933"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3933", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091211992", 
          "https://doi.org/10.1038/ng.3933"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2018-12", 
    "datePublishedReg": "2018-12-01", 
    "description": "BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a rare hereditary renal-neurological disease characterized by early-onset steroid-resistant nephrotic syndrome in combination with microcephaly and brain anomalies. Recently, novel causative mutations for this disease have been identified in the genes encoding the four KEOPS subunits: OSGEP, TP53RK, TPRKB, and LAGE3.\nCASE PRESENTATION: We detected a novel homozygous TP53RK mutation (NM_033550, c.194A\u2009>\u2009T, p.Lys65Met) using whole exome sequencing in a familial case of GAMOS with three affected siblings. All three patients manifested similar phenotypes, including very early-onset nephrotic syndrome (8\u00a0days, 1\u00a0day, and 1\u00a0day after birth, respectively), microcephaly, dysmorphic faces, and early fatality (10\u00a0months, 21\u00a0days, and 25\u00a0days of age, respectively). One patient also showed hiatal hernia with gastric volvulus. Renal biopsy performed on one patient revealed focal segmental glomerulosclerosis with severe tubulo-interstitial changes.\nCONCLUSION: We report on a familial case of GAMOS with three affected siblings carrying a novel homozygous TP53RK mutation. To our knowledge, this is only the second report on GAMOS in association with a TP53RK mutation.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/s12881-018-0649-y", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1024947", 
        "issn": [
          "1471-2350"
        ], 
        "name": "BMC Medical Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "19"
      }
    ], 
    "name": "A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report", 
    "pagination": "131", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "8a862a46fee716e79d7eb4998e9b9d73bb5884ef43510951194c3f6db4ff2e60"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30053862"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "100968552"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s12881-018-0649-y"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1105880778"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s12881-018-0649-y", 
      "https://app.dimensions.ai/details/publication/pub.1105880778"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T13:57", 
    "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/v90/0000000371_0000000371/records_130817_00000006.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1186%2Fs12881-018-0649-y"
  }
]
 

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.10.1186/s12881-018-0649-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.10.1186/s12881-018-0649-y'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s12881-018-0649-y'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s12881-018-0649-y'


 

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

222 TRIPLES      21 PREDICATES      52 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s12881-018-0649-y schema:about anzsrc-for:11
2 anzsrc-for:1109
3 schema:author N278f7092df5f478ea72c8bade5de6e1e
4 schema:citation sg:pub.10.1038/ejhg.2017.30
5 sg:pub.10.1038/jhg.2016.154
6 sg:pub.10.1038/ki.1994.184
7 sg:pub.10.1038/ng.3933
8 https://app.dimensions.ai/details/publication/pub.1077519909
9 https://doi.org/10.1002/ajmg.1320580310
10 https://doi.org/10.1002/ajmg.a.37533
11 https://doi.org/10.1002/humu.22828
12 https://doi.org/10.1002/pd.1183
13 https://doi.org/10.1016/j.ajhg.2014.10.011
14 https://doi.org/10.1016/j.ajhg.2015.08.013
15 https://doi.org/10.1016/j.cca.2016.10.029
16 https://doi.org/10.1038/emboj.2010.343
17 https://doi.org/10.1038/emboj.2010.363
18 https://doi.org/10.1074/jbc.m200253200
19 https://doi.org/10.1091/mbc.e17-01-0022
20 https://doi.org/10.1093/brain/awv153
21 https://doi.org/10.1093/nar/gkr178
22 https://doi.org/10.1093/nar/gkw1181
23 https://doi.org/10.1093/ndt/gfw103
24 https://doi.org/10.1136/jmedgenet-2014-102707
25 https://doi.org/10.1136/jmedgenet-2016-104237
26 https://doi.org/10.1136/jmg.5.4.319
27 schema:datePublished 2018-12
28 schema:datePublishedReg 2018-12-01
29 schema:description BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a rare hereditary renal-neurological disease characterized by early-onset steroid-resistant nephrotic syndrome in combination with microcephaly and brain anomalies. Recently, novel causative mutations for this disease have been identified in the genes encoding the four KEOPS subunits: OSGEP, TP53RK, TPRKB, and LAGE3. CASE PRESENTATION: We detected a novel homozygous TP53RK mutation (NM_033550, c.194A > T, p.Lys65Met) using whole exome sequencing in a familial case of GAMOS with three affected siblings. All three patients manifested similar phenotypes, including very early-onset nephrotic syndrome (8 days, 1 day, and 1 day after birth, respectively), microcephaly, dysmorphic faces, and early fatality (10 months, 21 days, and 25 days of age, respectively). One patient also showed hiatal hernia with gastric volvulus. Renal biopsy performed on one patient revealed focal segmental glomerulosclerosis with severe tubulo-interstitial changes. CONCLUSION: We report on a familial case of GAMOS with three affected siblings carrying a novel homozygous TP53RK mutation. To our knowledge, this is only the second report on GAMOS in association with a TP53RK mutation.
30 schema:genre research_article
31 schema:inLanguage en
32 schema:isAccessibleForFree true
33 schema:isPartOf N057688d4a2aa45799d3881dfa3543f91
34 N1047312959174621a515db3e0f22d879
35 sg:journal.1024947
36 schema:name A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report
37 schema:pagination 131
38 schema:productId N12450dfbdb31463e9ce944f0eb5b60b7
39 N30823486b4b74e8fb59f71b7979bec51
40 N44259a84f19640d2913913d5b8a8d359
41 N6b128bbe481c4e47bb4650b4c3f2a78c
42 Nb64fd327793f485d8c333e1d346c9e65
43 schema:sameAs https://app.dimensions.ai/details/publication/pub.1105880778
44 https://doi.org/10.1186/s12881-018-0649-y
45 schema:sdDatePublished 2019-04-11T13:57
46 schema:sdLicense https://scigraph.springernature.com/explorer/license/
47 schema:sdPublisher Nde24c74bae514111b5baf00dcae1db54
48 schema:url https://link.springer.com/10.1186%2Fs12881-018-0649-y
49 sgo:license sg:explorer/license/
50 sgo:sdDataset articles
51 rdf:type schema:ScholarlyArticle
52 N057688d4a2aa45799d3881dfa3543f91 schema:issueNumber 1
53 rdf:type schema:PublicationIssue
54 N1047312959174621a515db3e0f22d879 schema:volumeNumber 19
55 rdf:type schema:PublicationVolume
56 N1075f3bda25c48998d5edef21a542809 rdf:first sg:person.01264734630.65
57 rdf:rest N2283cffe5f814df688abfb9c5f934445
58 N12450dfbdb31463e9ce944f0eb5b60b7 schema:name nlm_unique_id
59 schema:value 100968552
60 rdf:type schema:PropertyValue
61 N12c1f2fae3ed41dbb0e05f3a009e96cb rdf:first sg:person.01135777524.13
62 rdf:rest rdf:nil
63 N168ee3521b1a4c5cb187393dc6e16ef8 rdf:first sg:person.01326241545.16
64 rdf:rest Nb038ecad07d04e8582dc20de4e2c3c6e
65 N2283cffe5f814df688abfb9c5f934445 rdf:first sg:person.015140730155.73
66 rdf:rest N168ee3521b1a4c5cb187393dc6e16ef8
67 N263e0a69fe3147baa4b30e25213826a7 rdf:first sg:person.01020376771.12
68 rdf:rest N28a3867bb2694375a17c8c13c563de64
69 N278f7092df5f478ea72c8bade5de6e1e rdf:first sg:person.016010156355.51
70 rdf:rest N83772d61d9e646debccea564a44a97fd
71 N28a3867bb2694375a17c8c13c563de64 rdf:first sg:person.012721257551.39
72 rdf:rest N12c1f2fae3ed41dbb0e05f3a009e96cb
73 N30823486b4b74e8fb59f71b7979bec51 schema:name doi
74 schema:value 10.1186/s12881-018-0649-y
75 rdf:type schema:PropertyValue
76 N44259a84f19640d2913913d5b8a8d359 schema:name pubmed_id
77 schema:value 30053862
78 rdf:type schema:PropertyValue
79 N6b128bbe481c4e47bb4650b4c3f2a78c schema:name dimensions_id
80 schema:value pub.1105880778
81 rdf:type schema:PropertyValue
82 N70e2efb98f064d60adab862aefe7f0e8 schema:name Renal Pathology Lab, Hankook Kidney and Diabetes Institute, Seoul, South Korea
83 rdf:type schema:Organization
84 N83772d61d9e646debccea564a44a97fd rdf:first sg:person.0604722030.24
85 rdf:rest N1075f3bda25c48998d5edef21a542809
86 N84dba83da9594890b44e28590b4f96a9 rdf:first sg:person.01027727764.75
87 rdf:rest N263e0a69fe3147baa4b30e25213826a7
88 Nafc51435b7ee4432949edcc3b90a0b1f schema:name Department of Pediatrics, Pusan National University Children’s Hospital, Yangsan, South Korea
89 rdf:type schema:Organization
90 Nb038ecad07d04e8582dc20de4e2c3c6e rdf:first sg:person.014357233714.08
91 rdf:rest N84dba83da9594890b44e28590b4f96a9
92 Nb64fd327793f485d8c333e1d346c9e65 schema:name readcube_id
93 schema:value 8a862a46fee716e79d7eb4998e9b9d73bb5884ef43510951194c3f6db4ff2e60
94 rdf:type schema:PropertyValue
95 Nde24c74bae514111b5baf00dcae1db54 schema:name Springer Nature - SN SciGraph project
96 rdf:type schema:Organization
97 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
98 schema:name Medical and Health Sciences
99 rdf:type schema:DefinedTerm
100 anzsrc-for:1109 schema:inDefinedTermSet anzsrc-for:
101 schema:name Neurosciences
102 rdf:type schema:DefinedTerm
103 sg:journal.1024947 schema:issn 1471-2350
104 schema:name BMC Medical Genetics
105 rdf:type schema:Periodical
106 sg:person.01020376771.12 schema:affiliation https://www.grid.ac/institutes/grid.268441.d
107 schema:familyName Matsumoto
108 schema:givenName Naomichi
109 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01020376771.12
110 rdf:type schema:Person
111 sg:person.01027727764.75 schema:affiliation https://www.grid.ac/institutes/grid.268441.d
112 schema:familyName Miyake
113 schema:givenName Noriko
114 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027727764.75
115 rdf:type schema:Person
116 sg:person.01135777524.13 schema:affiliation https://www.grid.ac/institutes/grid.31501.36
117 schema:familyName Cheong
118 schema:givenName Hae Il
119 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01135777524.13
120 rdf:type schema:Person
121 sg:person.01264734630.65 schema:affiliation https://www.grid.ac/institutes/grid.412482.9
122 schema:familyName Park
123 schema:givenName Eujin
124 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01264734630.65
125 rdf:type schema:Person
126 sg:person.012721257551.39 schema:affiliation https://www.grid.ac/institutes/grid.410783.9
127 schema:familyName Tsukaguchi
128 schema:givenName Hiroyasu
129 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012721257551.39
130 rdf:type schema:Person
131 sg:person.01326241545.16 schema:affiliation https://www.grid.ac/institutes/grid.412484.f
132 schema:familyName Kang
133 schema:givenName Hee Gyung
134 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01326241545.16
135 rdf:type schema:Person
136 sg:person.014357233714.08 schema:affiliation N70e2efb98f064d60adab862aefe7f0e8
137 schema:familyName Lee
138 schema:givenName Hyun Soon
139 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014357233714.08
140 rdf:type schema:Person
141 sg:person.015140730155.73 schema:affiliation https://www.grid.ac/institutes/grid.412482.9
142 schema:familyName Cho
143 schema:givenName Myung Hyun
144 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015140730155.73
145 rdf:type schema:Person
146 sg:person.016010156355.51 schema:affiliation https://www.grid.ac/institutes/grid.412482.9
147 schema:familyName Hyun
148 schema:givenName Hye Sun
149 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016010156355.51
150 rdf:type schema:Person
151 sg:person.0604722030.24 schema:affiliation Nafc51435b7ee4432949edcc3b90a0b1f
152 schema:familyName Kim
153 schema:givenName Seong Heon
154 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0604722030.24
155 rdf:type schema:Person
156 sg:pub.10.1038/ejhg.2017.30 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084127995
157 https://doi.org/10.1038/ejhg.2017.30
158 rdf:type schema:CreativeWork
159 sg:pub.10.1038/jhg.2016.154 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014105971
160 https://doi.org/10.1038/jhg.2016.154
161 rdf:type schema:CreativeWork
162 sg:pub.10.1038/ki.1994.184 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026031111
163 https://doi.org/10.1038/ki.1994.184
164 rdf:type schema:CreativeWork
165 sg:pub.10.1038/ng.3933 schema:sameAs https://app.dimensions.ai/details/publication/pub.1091211992
166 https://doi.org/10.1038/ng.3933
167 rdf:type schema:CreativeWork
168 https://app.dimensions.ai/details/publication/pub.1077519909 schema:CreativeWork
169 https://doi.org/10.1002/ajmg.1320580310 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041851931
170 rdf:type schema:CreativeWork
171 https://doi.org/10.1002/ajmg.a.37533 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045242817
172 rdf:type schema:CreativeWork
173 https://doi.org/10.1002/humu.22828 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011931689
174 rdf:type schema:CreativeWork
175 https://doi.org/10.1002/pd.1183 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025692108
176 rdf:type schema:CreativeWork
177 https://doi.org/10.1016/j.ajhg.2014.10.011 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042038964
178 rdf:type schema:CreativeWork
179 https://doi.org/10.1016/j.ajhg.2015.08.013 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015019482
180 rdf:type schema:CreativeWork
181 https://doi.org/10.1016/j.cca.2016.10.029 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029335660
182 rdf:type schema:CreativeWork
183 https://doi.org/10.1038/emboj.2010.343 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029690973
184 rdf:type schema:CreativeWork
185 https://doi.org/10.1038/emboj.2010.363 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045004844
186 rdf:type schema:CreativeWork
187 https://doi.org/10.1074/jbc.m200253200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005402529
188 rdf:type schema:CreativeWork
189 https://doi.org/10.1091/mbc.e17-01-0022 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090778694
190 rdf:type schema:CreativeWork
191 https://doi.org/10.1093/brain/awv153 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007602488
192 rdf:type schema:CreativeWork
193 https://doi.org/10.1093/nar/gkr178 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042697261
194 rdf:type schema:CreativeWork
195 https://doi.org/10.1093/nar/gkw1181 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059932108
196 rdf:type schema:CreativeWork
197 https://doi.org/10.1093/ndt/gfw103 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059933368
198 rdf:type schema:CreativeWork
199 https://doi.org/10.1136/jmedgenet-2014-102707 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024449358
200 rdf:type schema:CreativeWork
201 https://doi.org/10.1136/jmedgenet-2016-104237 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084225590
202 rdf:type schema:CreativeWork
203 https://doi.org/10.1136/jmg.5.4.319 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034243935
204 rdf:type schema:CreativeWork
205 https://www.grid.ac/institutes/grid.268441.d schema:alternateName Yokohama City University
206 schema:name Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
207 rdf:type schema:Organization
208 https://www.grid.ac/institutes/grid.31501.36 schema:alternateName Seoul National University
209 schema:name Department of Pediatrics, Seoul National University Children’s Hospital, 101 Daehak-Ro, Jongno-Gu, 03080, Seoul, South Korea
210 Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea
211 Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, South Korea
212 rdf:type schema:Organization
213 https://www.grid.ac/institutes/grid.410783.9 schema:alternateName Kansai Medical University
214 schema:name Second Department of Internal Medicine, Kansai Medical University, Osaka, Japan
215 rdf:type schema:Organization
216 https://www.grid.ac/institutes/grid.412482.9 schema:alternateName Seoul National University Children's Hospital
217 schema:name Department of Pediatrics, Seoul National University Children’s Hospital, 101 Daehak-Ro, Jongno-Gu, 03080, Seoul, South Korea
218 rdf:type schema:Organization
219 https://www.grid.ac/institutes/grid.412484.f schema:alternateName Seoul National University Hospital
220 schema:name Department of Pediatrics, Seoul National University Children’s Hospital, 101 Daehak-Ro, Jongno-Gu, 03080, Seoul, South Korea
221 Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, South Korea
222 rdf:type schema:Organization
 




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


...