Identification of mutations in FN1 leading to glomerulopathy with fibronectin deposits View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2016-09

AUTHORS

Hiromi Ohtsubo, Taro Okada, Kandai Nozu, Yutaka Takaoka, Akemi Shono, Katsuhiko Asanuma, Lifang Zhang, Koichi Nakanishi, Mariko Taniguchi-Ikeda, Hiroshi Kaito, Kazumoto Iijima, Shun-ichi Nakamura

ABSTRACT

BACKGROUND: Glomerulopathy with fibronectin deposits (GFND) is a rare autosomal dominant disease characterized by massive fibronectin deposits, leading to end-stage renal failure. Although mutations within the heparin-binding domains of the fibronectin 1 gene (FN1) have been associated with GFND, no mutations have been reported within the integrin-binding domains. METHODS: In this study, FN1 mutational analysis was conducted in 12 families with GFND. Biochemical and functional features of mutated proteins were examined using recombinant fibronectin fragments encompassing both the integrin- and heparin-binding domains. RESULTS: We report six FN1 mutations from 12 families with GFND, including five that are novel (p.Pro969Leu, p.Pro1472del, p.Trp1925Cys, p.Lys1953_Ile1961del, and p.Leu1974Pro). p.Pro1472del is localized in the integrin-binding domain of fibronectin, while the others are in heparin-binding domains. We detected p.Tyr973Cys, p.Pro1472del, and p.Leu1974Pro mutations in multiple families, and haplotype analysis implied that p.Pro1472del and p.Leu1974Pro are founder mutations. The protein encoded by the novel integrin-binding domain mutation p.Pro1472del showed decreased cell binding ability via the integrin-binding site. Most affected patients developed urine abnormalities during the first or second decade of life, and some mutation carriers were completely asymptomatic. CONCLUSIONS: This is the second large-scale analysis of GFND families and the first report of an integrin-binding domain mutation. These findings may help determine the pathogenesis of GFND. More... »

PAGES

1459-1467

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00467-016-3368-7

DOI

http://dx.doi.org/10.1007/s00467-016-3368-7

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1048258502

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27056061


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/2008/1103", 
        "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": "Adolescent", 
        "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": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cytokines", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Fibronectins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Glomerulonephritis, Membranoproliferative", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Heparin", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "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": "Middle Aged", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Kobe University", 
          "id": "https://www.grid.ac/institutes/grid.31432.37", 
          "name": [
            "Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo, 650-0017, Kobe, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ohtsubo", 
        "givenName": "Hiromi", 
        "id": "sg:person.01136610152.56", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01136610152.56"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kobe University", 
          "id": "https://www.grid.ac/institutes/grid.31432.37", 
          "name": [
            "Department of Biochemistry and Molecular Biology, Kobe University Graduate School of Medicine, 658-0072, Kobe, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Okada", 
        "givenName": "Taro", 
        "id": "sg:person.0734026020.91", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0734026020.91"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kobe University", 
          "id": "https://www.grid.ac/institutes/grid.31432.37", 
          "name": [
            "Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo, 650-0017, Kobe, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nozu", 
        "givenName": "Kandai", 
        "id": "sg:person.0717317506.56", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717317506.56"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kobe University Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411102.7", 
          "name": [
            "Division of Medical Informatics and Bioinformatics, Kobe University Hospital, 658-0072, Kobe, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Takaoka", 
        "givenName": "Yutaka", 
        "id": "sg:person.01036556540.70", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01036556540.70"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kobe University", 
          "id": "https://www.grid.ac/institutes/grid.31432.37", 
          "name": [
            "Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo, 650-0017, Kobe, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shono", 
        "givenName": "Akemi", 
        "id": "sg:person.0700562177.73", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0700562177.73"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kyoto University", 
          "id": "https://www.grid.ac/institutes/grid.258799.8", 
          "name": [
            "Medical Innovation Center, TMK project, Kyoto University Graduate School of Medicine, 606-8501, Kyoto, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Asanuma", 
        "givenName": "Katsuhiko", 
        "id": "sg:person.01366663157.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01366663157.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kobe University", 
          "id": "https://www.grid.ac/institutes/grid.31432.37", 
          "name": [
            "Department of Biochemistry and Molecular Biology, Kobe University Graduate School of Medicine, 658-0072, Kobe, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zhang", 
        "givenName": "Lifang", 
        "id": "sg:person.013124213511.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013124213511.43"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wakayama Medical University", 
          "id": "https://www.grid.ac/institutes/grid.412857.d", 
          "name": [
            "Department of Pediatrics, Wakayama Medical University, 641-8509, Wakayama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nakanishi", 
        "givenName": "Koichi", 
        "id": "sg:person.0611445101.47", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0611445101.47"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kobe University", 
          "id": "https://www.grid.ac/institutes/grid.31432.37", 
          "name": [
            "Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo, 650-0017, Kobe, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Taniguchi-Ikeda", 
        "givenName": "Mariko", 
        "id": "sg:person.01050471371.91", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01050471371.91"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kobe University", 
          "id": "https://www.grid.ac/institutes/grid.31432.37", 
          "name": [
            "Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo, 650-0017, Kobe, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kaito", 
        "givenName": "Hiroshi", 
        "id": "sg:person.01156350501.04", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01156350501.04"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kobe University", 
          "id": "https://www.grid.ac/institutes/grid.31432.37", 
          "name": [
            "Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo, 650-0017, Kobe, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Iijima", 
        "givenName": "Kazumoto", 
        "id": "sg:person.01360637141.54", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01360637141.54"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kobe University", 
          "id": "https://www.grid.ac/institutes/grid.31432.37", 
          "name": [
            "Department of Biochemistry and Molecular Biology, Kobe University Graduate School of Medicine, 658-0072, Kobe, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nakamura", 
        "givenName": "Shun-ichi", 
        "id": "sg:person.012555167661.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012555167661.25"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1042/bj2720605", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009978564"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1042/bj2720605", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009978564"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.80.1.137", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016611203"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0955-0674(91)90051-y", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025108140"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1146/annurev.bi.57.070188.002111", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028385246"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ki.1995.280", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029987785", 
          "https://doi.org/10.1038/ki.1995.280"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1083/jcb.111.6.2733", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038285133"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.0707730105", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040602876"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0014-4827(83)90320-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050869914"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.81.19.5985", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051187150"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0092-8674(88)90580-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053580602"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1021/bi00419a058", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1055175097"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1078055116", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/j.1460-2075.1986.tb04265.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1079909761"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082749157", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2016-09", 
    "datePublishedReg": "2016-09-01", 
    "description": "BACKGROUND: Glomerulopathy with fibronectin deposits (GFND) is a rare autosomal dominant disease characterized by massive fibronectin deposits, leading to end-stage renal failure. Although mutations within the heparin-binding domains of the fibronectin 1 gene (FN1) have been associated with GFND, no mutations have been reported within the integrin-binding domains.\nMETHODS: In this study, FN1 mutational analysis was conducted in 12 families with GFND. Biochemical and functional features of mutated proteins were examined using recombinant fibronectin fragments encompassing both the integrin- and heparin-binding domains.\nRESULTS: We report six FN1 mutations from 12 families with GFND, including five that are novel (p.Pro969Leu, p.Pro1472del, p.Trp1925Cys, p.Lys1953_Ile1961del, and p.Leu1974Pro). p.Pro1472del is localized in the integrin-binding domain of fibronectin, while the others are in heparin-binding domains. We detected p.Tyr973Cys, p.Pro1472del, and p.Leu1974Pro mutations in multiple families, and haplotype analysis implied that p.Pro1472del and p.Leu1974Pro are founder mutations. The protein encoded by the novel integrin-binding domain mutation p.Pro1472del showed decreased cell binding ability via the integrin-binding site. Most affected patients developed urine abnormalities during the first or second decade of life, and some mutation carriers were completely asymptomatic.\nCONCLUSIONS: This is the second large-scale analysis of GFND families and the first report of an integrin-binding domain mutation. These findings may help determine the pathogenesis of GFND.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s00467-016-3368-7", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.6101161", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.6145141", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.5923434", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1097267", 
        "issn": [
          "0931-041X", 
          "1432-198X"
        ], 
        "name": "Pediatric Nephrology", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "9", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "31"
      }
    ], 
    "name": "Identification of mutations in FN1 leading to glomerulopathy with fibronectin deposits", 
    "pagination": "1459-1467", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "e5e59ed44501f8bbf9e0347dad5c01f3dbd8a4b35db2fda5e1dd7138b110735b"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "27056061"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "8708728"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s00467-016-3368-7"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1048258502"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s00467-016-3368-7", 
      "https://app.dimensions.ai/details/publication/pub.1048258502"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T00:11", 
    "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_8695_00000491.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1007/s00467-016-3368-7"
  }
]
 

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.10.1007/s00467-016-3368-7'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s00467-016-3368-7'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00467-016-3368-7'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00467-016-3368-7'


 

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

259 TRIPLES      21 PREDICATES      57 URIs      35 LITERALS      23 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s00467-016-3368-7 schema:about N058eb0c9ab8b4fa39902d5badfbecd08
2 N05e184e0522642558d4c999d7f715fd6
3 N0609a0c4d793476799ccf2c5d7349465
4 N5f02db4249c849d496c699aeaf6bd4dc
5 N6fa734a8e3f54de4a47000bd22e59d6d
6 N7a6cbd2af4184b3f9f98e1a85dd736e3
7 N8d021cada92d42e0b41b3b1cd5e50a0b
8 N97a43830703b4bc68af0d822910d7011
9 Nb15ff1878fb54166a6883177be752a3e
10 Nbadca6fd273245109ac044bfbcddcaac
11 Ncb779ef7eb7e4d73a69024c1a0d5ab89
12 Ncf717da83ffd4d6bbc55f86c63e5da17
13 Neb05e3ea3c79449cbb0ca4c9e307015e
14 Nee65abb91af74a2083274d370cde3c8c
15 anzsrc-for:11
16 anzsrc-for:1103
17 schema:author N8663c46307624255b46c1e53219f3cde
18 schema:citation sg:pub.10.1038/ki.1995.280
19 https://app.dimensions.ai/details/publication/pub.1078055116
20 https://app.dimensions.ai/details/publication/pub.1082749157
21 https://doi.org/10.1002/j.1460-2075.1986.tb04265.x
22 https://doi.org/10.1016/0014-4827(83)90320-8
23 https://doi.org/10.1016/0092-8674(88)90580-6
24 https://doi.org/10.1016/0955-0674(91)90051-y
25 https://doi.org/10.1021/bi00419a058
26 https://doi.org/10.1042/bj2720605
27 https://doi.org/10.1073/pnas.0707730105
28 https://doi.org/10.1073/pnas.80.1.137
29 https://doi.org/10.1073/pnas.81.19.5985
30 https://doi.org/10.1083/jcb.111.6.2733
31 https://doi.org/10.1146/annurev.bi.57.070188.002111
32 schema:datePublished 2016-09
33 schema:datePublishedReg 2016-09-01
34 schema:description BACKGROUND: Glomerulopathy with fibronectin deposits (GFND) is a rare autosomal dominant disease characterized by massive fibronectin deposits, leading to end-stage renal failure. Although mutations within the heparin-binding domains of the fibronectin 1 gene (FN1) have been associated with GFND, no mutations have been reported within the integrin-binding domains. METHODS: In this study, FN1 mutational analysis was conducted in 12 families with GFND. Biochemical and functional features of mutated proteins were examined using recombinant fibronectin fragments encompassing both the integrin- and heparin-binding domains. RESULTS: We report six FN1 mutations from 12 families with GFND, including five that are novel (p.Pro969Leu, p.Pro1472del, p.Trp1925Cys, p.Lys1953_Ile1961del, and p.Leu1974Pro). p.Pro1472del is localized in the integrin-binding domain of fibronectin, while the others are in heparin-binding domains. We detected p.Tyr973Cys, p.Pro1472del, and p.Leu1974Pro mutations in multiple families, and haplotype analysis implied that p.Pro1472del and p.Leu1974Pro are founder mutations. The protein encoded by the novel integrin-binding domain mutation p.Pro1472del showed decreased cell binding ability via the integrin-binding site. Most affected patients developed urine abnormalities during the first or second decade of life, and some mutation carriers were completely asymptomatic. CONCLUSIONS: This is the second large-scale analysis of GFND families and the first report of an integrin-binding domain mutation. These findings may help determine the pathogenesis of GFND.
35 schema:genre research_article
36 schema:inLanguage en
37 schema:isAccessibleForFree false
38 schema:isPartOf Nf2b648d00740430eb55e0c703e9451ea
39 Nfa261620a1a446209672b3ffc76c45cd
40 sg:journal.1097267
41 schema:name Identification of mutations in FN1 leading to glomerulopathy with fibronectin deposits
42 schema:pagination 1459-1467
43 schema:productId N40569add84fc42a582eb7a8f9c759304
44 N8edf5985c2de4854b02e022f19aa8765
45 Nd1c569dc75bb4542986cc9339e6dbd99
46 Ne0950a80b43944b49942bdb52db183ee
47 Nf7abbcabadb7468681878cd90a227ad4
48 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048258502
49 https://doi.org/10.1007/s00467-016-3368-7
50 schema:sdDatePublished 2019-04-11T00:11
51 schema:sdLicense https://scigraph.springernature.com/explorer/license/
52 schema:sdPublisher N5fc2a53b06fd4d6caeec348f5745386f
53 schema:url http://link.springer.com/10.1007/s00467-016-3368-7
54 sgo:license sg:explorer/license/
55 sgo:sdDataset articles
56 rdf:type schema:ScholarlyArticle
57 N036a8b9279ed445c9cfc7ccc2797aa40 rdf:first sg:person.01156350501.04
58 rdf:rest Nbf752cdba1e94db088867e28368a10c5
59 N058eb0c9ab8b4fa39902d5badfbecd08 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
60 schema:name Middle Aged
61 rdf:type schema:DefinedTerm
62 N05e184e0522642558d4c999d7f715fd6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
63 schema:name Cytokines
64 rdf:type schema:DefinedTerm
65 N0609a0c4d793476799ccf2c5d7349465 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
66 schema:name Adolescent
67 rdf:type schema:DefinedTerm
68 N35c48050547d4d0fbb210e369194aa43 rdf:first sg:person.013124213511.43
69 rdf:rest Ndd46c08a310e453bbbb74254ff7e880d
70 N40569add84fc42a582eb7a8f9c759304 schema:name nlm_unique_id
71 schema:value 8708728
72 rdf:type schema:PropertyValue
73 N5f02db4249c849d496c699aeaf6bd4dc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
74 schema:name Humans
75 rdf:type schema:DefinedTerm
76 N5fc2a53b06fd4d6caeec348f5745386f schema:name Springer Nature - SN SciGraph project
77 rdf:type schema:Organization
78 N5fd83e3c59a84cbc9c58ed8f10b39356 rdf:first sg:person.01036556540.70
79 rdf:rest Nb3a64ebc583e44b7bf50a4256661f771
80 N68d387731e744819be1bb7ba24d01cb3 rdf:first sg:person.012555167661.25
81 rdf:rest rdf:nil
82 N6fa734a8e3f54de4a47000bd22e59d6d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
83 schema:name Kidney Failure, Chronic
84 rdf:type schema:DefinedTerm
85 N7a6cbd2af4184b3f9f98e1a85dd736e3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
86 schema:name Child
87 rdf:type schema:DefinedTerm
88 N8663c46307624255b46c1e53219f3cde rdf:first sg:person.01136610152.56
89 rdf:rest N9c9a725b7c1d4e99bc3eca3c5303b46e
90 N8d021cada92d42e0b41b3b1cd5e50a0b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
91 schema:name Mutation
92 rdf:type schema:DefinedTerm
93 N8edf5985c2de4854b02e022f19aa8765 schema:name doi
94 schema:value 10.1007/s00467-016-3368-7
95 rdf:type schema:PropertyValue
96 N97a43830703b4bc68af0d822910d7011 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
97 schema:name Glomerulonephritis, Membranoproliferative
98 rdf:type schema:DefinedTerm
99 N9c9a725b7c1d4e99bc3eca3c5303b46e rdf:first sg:person.0734026020.91
100 rdf:rest Nbd49e77651234b6897e53d319299ac08
101 Nb15ff1878fb54166a6883177be752a3e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
102 schema:name Aged
103 rdf:type schema:DefinedTerm
104 Nb3a64ebc583e44b7bf50a4256661f771 rdf:first sg:person.0700562177.73
105 rdf:rest Ne3b9b75b6e404c118d67be010c471528
106 Nbadca6fd273245109ac044bfbcddcaac schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
107 schema:name Male
108 rdf:type schema:DefinedTerm
109 Nbd49e77651234b6897e53d319299ac08 rdf:first sg:person.0717317506.56
110 rdf:rest N5fd83e3c59a84cbc9c58ed8f10b39356
111 Nbf752cdba1e94db088867e28368a10c5 rdf:first sg:person.01360637141.54
112 rdf:rest N68d387731e744819be1bb7ba24d01cb3
113 Ncb779ef7eb7e4d73a69024c1a0d5ab89 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
114 schema:name Heparin
115 rdf:type schema:DefinedTerm
116 Ncf717da83ffd4d6bbc55f86c63e5da17 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
117 schema:name Female
118 rdf:type schema:DefinedTerm
119 Nd1c569dc75bb4542986cc9339e6dbd99 schema:name pubmed_id
120 schema:value 27056061
121 rdf:type schema:PropertyValue
122 Nd1eaba9726204fc38db02dc67a674c2a rdf:first sg:person.01050471371.91
123 rdf:rest N036a8b9279ed445c9cfc7ccc2797aa40
124 Ndd46c08a310e453bbbb74254ff7e880d rdf:first sg:person.0611445101.47
125 rdf:rest Nd1eaba9726204fc38db02dc67a674c2a
126 Ne0950a80b43944b49942bdb52db183ee schema:name readcube_id
127 schema:value e5e59ed44501f8bbf9e0347dad5c01f3dbd8a4b35db2fda5e1dd7138b110735b
128 rdf:type schema:PropertyValue
129 Ne3b9b75b6e404c118d67be010c471528 rdf:first sg:person.01366663157.13
130 rdf:rest N35c48050547d4d0fbb210e369194aa43
131 Neb05e3ea3c79449cbb0ca4c9e307015e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
132 schema:name Fibronectins
133 rdf:type schema:DefinedTerm
134 Nee65abb91af74a2083274d370cde3c8c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
135 schema:name Adult
136 rdf:type schema:DefinedTerm
137 Nf2b648d00740430eb55e0c703e9451ea schema:volumeNumber 31
138 rdf:type schema:PublicationVolume
139 Nf7abbcabadb7468681878cd90a227ad4 schema:name dimensions_id
140 schema:value pub.1048258502
141 rdf:type schema:PropertyValue
142 Nfa261620a1a446209672b3ffc76c45cd schema:issueNumber 9
143 rdf:type schema:PublicationIssue
144 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
145 schema:name Medical and Health Sciences
146 rdf:type schema:DefinedTerm
147 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
148 schema:name Clinical Sciences
149 rdf:type schema:DefinedTerm
150 sg:grant.5923434 http://pending.schema.org/fundedItem sg:pub.10.1007/s00467-016-3368-7
151 rdf:type schema:MonetaryGrant
152 sg:grant.6101161 http://pending.schema.org/fundedItem sg:pub.10.1007/s00467-016-3368-7
153 rdf:type schema:MonetaryGrant
154 sg:grant.6145141 http://pending.schema.org/fundedItem sg:pub.10.1007/s00467-016-3368-7
155 rdf:type schema:MonetaryGrant
156 sg:journal.1097267 schema:issn 0931-041X
157 1432-198X
158 schema:name Pediatric Nephrology
159 rdf:type schema:Periodical
160 sg:person.01036556540.70 schema:affiliation https://www.grid.ac/institutes/grid.411102.7
161 schema:familyName Takaoka
162 schema:givenName Yutaka
163 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01036556540.70
164 rdf:type schema:Person
165 sg:person.01050471371.91 schema:affiliation https://www.grid.ac/institutes/grid.31432.37
166 schema:familyName Taniguchi-Ikeda
167 schema:givenName Mariko
168 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01050471371.91
169 rdf:type schema:Person
170 sg:person.01136610152.56 schema:affiliation https://www.grid.ac/institutes/grid.31432.37
171 schema:familyName Ohtsubo
172 schema:givenName Hiromi
173 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01136610152.56
174 rdf:type schema:Person
175 sg:person.01156350501.04 schema:affiliation https://www.grid.ac/institutes/grid.31432.37
176 schema:familyName Kaito
177 schema:givenName Hiroshi
178 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01156350501.04
179 rdf:type schema:Person
180 sg:person.012555167661.25 schema:affiliation https://www.grid.ac/institutes/grid.31432.37
181 schema:familyName Nakamura
182 schema:givenName Shun-ichi
183 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012555167661.25
184 rdf:type schema:Person
185 sg:person.013124213511.43 schema:affiliation https://www.grid.ac/institutes/grid.31432.37
186 schema:familyName Zhang
187 schema:givenName Lifang
188 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013124213511.43
189 rdf:type schema:Person
190 sg:person.01360637141.54 schema:affiliation https://www.grid.ac/institutes/grid.31432.37
191 schema:familyName Iijima
192 schema:givenName Kazumoto
193 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01360637141.54
194 rdf:type schema:Person
195 sg:person.01366663157.13 schema:affiliation https://www.grid.ac/institutes/grid.258799.8
196 schema:familyName Asanuma
197 schema:givenName Katsuhiko
198 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01366663157.13
199 rdf:type schema:Person
200 sg:person.0611445101.47 schema:affiliation https://www.grid.ac/institutes/grid.412857.d
201 schema:familyName Nakanishi
202 schema:givenName Koichi
203 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0611445101.47
204 rdf:type schema:Person
205 sg:person.0700562177.73 schema:affiliation https://www.grid.ac/institutes/grid.31432.37
206 schema:familyName Shono
207 schema:givenName Akemi
208 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0700562177.73
209 rdf:type schema:Person
210 sg:person.0717317506.56 schema:affiliation https://www.grid.ac/institutes/grid.31432.37
211 schema:familyName Nozu
212 schema:givenName Kandai
213 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717317506.56
214 rdf:type schema:Person
215 sg:person.0734026020.91 schema:affiliation https://www.grid.ac/institutes/grid.31432.37
216 schema:familyName Okada
217 schema:givenName Taro
218 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0734026020.91
219 rdf:type schema:Person
220 sg:pub.10.1038/ki.1995.280 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029987785
221 https://doi.org/10.1038/ki.1995.280
222 rdf:type schema:CreativeWork
223 https://app.dimensions.ai/details/publication/pub.1078055116 schema:CreativeWork
224 https://app.dimensions.ai/details/publication/pub.1082749157 schema:CreativeWork
225 https://doi.org/10.1002/j.1460-2075.1986.tb04265.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1079909761
226 rdf:type schema:CreativeWork
227 https://doi.org/10.1016/0014-4827(83)90320-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050869914
228 rdf:type schema:CreativeWork
229 https://doi.org/10.1016/0092-8674(88)90580-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053580602
230 rdf:type schema:CreativeWork
231 https://doi.org/10.1016/0955-0674(91)90051-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1025108140
232 rdf:type schema:CreativeWork
233 https://doi.org/10.1021/bi00419a058 schema:sameAs https://app.dimensions.ai/details/publication/pub.1055175097
234 rdf:type schema:CreativeWork
235 https://doi.org/10.1042/bj2720605 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009978564
236 rdf:type schema:CreativeWork
237 https://doi.org/10.1073/pnas.0707730105 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040602876
238 rdf:type schema:CreativeWork
239 https://doi.org/10.1073/pnas.80.1.137 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016611203
240 rdf:type schema:CreativeWork
241 https://doi.org/10.1073/pnas.81.19.5985 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051187150
242 rdf:type schema:CreativeWork
243 https://doi.org/10.1083/jcb.111.6.2733 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038285133
244 rdf:type schema:CreativeWork
245 https://doi.org/10.1146/annurev.bi.57.070188.002111 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028385246
246 rdf:type schema:CreativeWork
247 https://www.grid.ac/institutes/grid.258799.8 schema:alternateName Kyoto University
248 schema:name Medical Innovation Center, TMK project, Kyoto University Graduate School of Medicine, 606-8501, Kyoto, Japan
249 rdf:type schema:Organization
250 https://www.grid.ac/institutes/grid.31432.37 schema:alternateName Kobe University
251 schema:name Department of Biochemistry and Molecular Biology, Kobe University Graduate School of Medicine, 658-0072, Kobe, Japan
252 Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo, 650-0017, Kobe, Japan
253 rdf:type schema:Organization
254 https://www.grid.ac/institutes/grid.411102.7 schema:alternateName Kobe University Hospital
255 schema:name Division of Medical Informatics and Bioinformatics, Kobe University Hospital, 658-0072, Kobe, Japan
256 rdf:type schema:Organization
257 https://www.grid.ac/institutes/grid.412857.d schema:alternateName Wakayama Medical University
258 schema:name Department of Pediatrics, Wakayama Medical University, 641-8509, Wakayama, Japan
259 rdf:type schema:Organization
 




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


...