EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2006-04

AUTHORS

Michiyo Okada, Rika Fujimaru, Noriko Morimoto, Kenichi Satomura, Yoshikazu Kaku, Kazuo Tsuzuki, Kandai Nozu, Torayuki Okuyama, Kazumoto Iijima

ABSTRACT

We isolated genomic DNA from 15 patients with branchio-oto-renal (BOR) syndrome or BOR-related conditions. Seven patients had BOR syndrome (two familial and five sporadic), and eight had deafness and renal malformations without branchial fistula (BOR-related conditions). We analyzed all exons and exon-intron boundaries of EYA1 and SIX1 using the polymerase chain reaction (PCR) direct sequencing, and characterized their mutations. In some patients, analysis of mRNA by reverse transcription (RT)-PCR was performed to examine whether the mutation affects the mRNA splicing. We identified five novel disease-causing heterozygous EYA1 mutations in five patients with BOR syndrome (two familial and three sporadic, 5/7=71%), but EYA1 and SIX1 mutations were not detected in the other two patients with BOR syndrome or any of the patients with BOR-related conditions. The detected EYA1 mutations were two nonsense mutations, two splicing acceptor-site mutations, and a point mutation (G>T) of the first base of exon 10. Analysis of mRNA by RT-PCR direct sequencing revealed that the latter point mutation led to the skipping of exon 10. In conclusion, (1) EYA1 mutations are a major cause of BOR syndrome in Japanese, (2) EYA1 and SIX1 mutations were not a major cause of BOR-related conditions, (3) we demonstrated for the first time that the point mutation (G>T) of the first base of the exon in EYA1 gene induced exon skipping. More... »

PAGES

475-481

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00467-006-0041-6

DOI

http://dx.doi.org/10.1007/s00467-006-0041-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1022935336

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16491411


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Abnormalities, Multiple", 
        "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": "Branchial Region", 
        "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": "DNA Mutational Analysis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Ear", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Homeodomain Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Intracellular Signaling Peptides and Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Japan", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Kidney", 
        "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": "Nuclear Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Protein Tyrosine Phosphatases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Syndrome", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "National Center For Child Health and Development", 
          "id": "https://www.grid.ac/institutes/grid.63906.3a", 
          "name": [
            "Department of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Okada", 
        "givenName": "Michiyo", 
        "id": "sg:person.0731602403.34", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0731602403.34"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Center For Child Health and Development", 
          "id": "https://www.grid.ac/institutes/grid.63906.3a", 
          "name": [
            "Department of Nephrology, National Children\u2019s Medical Center, National Center for Child Health and Development, 10-1, Okura 2chome, Setagaya-ku, 157-8535, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fujimaru", 
        "givenName": "Rika", 
        "id": "sg:person.01352761505.35", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01352761505.35"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Center For Child Health and Development", 
          "id": "https://www.grid.ac/institutes/grid.63906.3a", 
          "name": [
            "Department of Otolaryngology and Communication Disorder, National Center for Child Health and Development, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Morimoto", 
        "givenName": "Noriko", 
        "id": "sg:person.0721153065.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0721153065.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Osaka Medical Center and Research Institute for Maternal and Child Health", 
          "id": "https://www.grid.ac/institutes/grid.416629.e", 
          "name": [
            "Division of Pediatric Nephrology and Metabolisms, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Satomura", 
        "givenName": "Kenichi", 
        "id": "sg:person.01017574641.23", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01017574641.23"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Fukuoka Children's Hospital and Medical Center for Infectious Diseases", 
          "id": "https://www.grid.ac/institutes/grid.410810.c", 
          "name": [
            "Department of Nephrology, Fukuoka Children\u2019s Hospital, Fukuoka, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kaku", 
        "givenName": "Yoshikazu", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Chukyo Hospital", 
          "id": "https://www.grid.ac/institutes/grid.414470.2", 
          "name": [
            "Department of Pediatrics, Chukyo Hospital, Nagoya, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tsuzuki", 
        "givenName": "Kazuo", 
        "id": "sg:person.01367243227.07", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01367243227.07"
        ], 
        "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, 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": "National Center For Child Health and Development", 
          "id": "https://www.grid.ac/institutes/grid.63906.3a", 
          "name": [
            "Department of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Okuyama", 
        "givenName": "Torayuki", 
        "id": "sg:person.01205306652.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01205306652.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Center For Child Health and Development", 
          "id": "https://www.grid.ac/institutes/grid.63906.3a", 
          "name": [
            "Department of Nephrology, National Children\u2019s Medical Center, National Center for Child Health and Development, 10-1, Okura 2chome, Setagaya-ku, 157-8535, Tokyo, 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"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1073/pnas.0308475101", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002086374"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1442-200x.2004.01935.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015361481"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1681/asn.2004121083", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018755600"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1681/asn.2004121083", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018755600"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320020305", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018857776"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320020305", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018857776"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng0297-157", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019996401", 
          "https://doi.org/10.1038/ng0297-157"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/15.17.7155", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026177973"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/6.13.2247", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029835982"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.20048", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030720308"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/9.3.363", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031427384"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320580413", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033394971"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320580413", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033394971"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.1976.tb01546.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035226563"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s100380050156", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036783429", 
          "https://doi.org/10.1007/s100380050156"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0888-7543(05)80102-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038081278"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0888-7543(05)80102-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038081278"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.37.8.623", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040486522"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19980413)76:5<395::aid-ajmg6>3.0.co;2-m", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042251577"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1111/j.1523-1755.2005.00203.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044068778", 
          "https://doi.org/10.1111/j.1523-1755.2005.00203.x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19980923)79:3<209::aid-ajmg12>3.0.co;2-l", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044267087"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320510222", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044641614"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320510222", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044641614"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0925-4439(95)00059-d", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047324021"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1098-1004(1998)11:6<432::aid-humu3>3.0.co;2-z", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048663022"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/316939", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058621879"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1089/gte.1997.1.243", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059267015"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074845597", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074851639", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1076617910", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1081892413", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082932483", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2006-04", 
    "datePublishedReg": "2006-04-01", 
    "description": "We isolated genomic DNA from 15 patients with branchio-oto-renal (BOR) syndrome or BOR-related conditions. Seven patients had BOR syndrome (two familial and five sporadic), and eight had deafness and renal malformations without branchial fistula (BOR-related conditions). We analyzed all exons and exon-intron boundaries of EYA1 and SIX1 using the polymerase chain reaction (PCR) direct sequencing, and characterized their mutations. In some patients, analysis of mRNA by reverse transcription (RT)-PCR was performed to examine whether the mutation affects the mRNA splicing. We identified five novel disease-causing heterozygous EYA1 mutations in five patients with BOR syndrome (two familial and three sporadic, 5/7=71%), but EYA1 and SIX1 mutations were not detected in the other two patients with BOR syndrome or any of the patients with BOR-related conditions. The detected EYA1 mutations were two nonsense mutations, two splicing acceptor-site mutations, and a point mutation (G>T) of the first base of exon 10. Analysis of mRNA by RT-PCR direct sequencing revealed that the latter point mutation led to the skipping of exon 10. In conclusion, (1) EYA1 mutations are a major cause of BOR syndrome in Japanese, (2) EYA1 and SIX1 mutations were not a major cause of BOR-related conditions, (3) we demonstrated for the first time that the point mutation (G>T) of the first base of the exon in EYA1 gene induced exon skipping.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s00467-006-0041-6", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1097267", 
        "issn": [
          "0931-041X", 
          "1432-198X"
        ], 
        "name": "Pediatric Nephrology", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "21"
      }
    ], 
    "name": "EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions", 
    "pagination": "475-481", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "6d44c08f528c5f4e7c780cd452c7c0055a8eaf2155a1b9ff96571c105772c39c"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "16491411"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "8708728"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s00467-006-0041-6"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1022935336"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s00467-006-0041-6", 
      "https://app.dimensions.ai/details/publication/pub.1022935336"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T12:54", 
    "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/v90/0000000364_0000000364/records_72867_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1007/s00467-006-0041-6"
  }
]
 

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/s00467-006-0041-6'

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/s00467-006-0041-6'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00467-006-0041-6'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00467-006-0041-6'


 

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

297 TRIPLES      21 PREDICATES      76 URIs      41 LITERALS      29 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s00467-006-0041-6 schema:about N1d36be01d4114633a994e72183fcf698
2 N2357726ed5ec465a97dc828d9c5bd744
3 N259b44750e884b439b3d7aded3aa90f1
4 N30798179d5e94d2dbfee72a371aef971
5 N4468ccad54e84657a1af64a11331db17
6 N506fc8d4a3fc42a5a4fbf971de587def
7 N6455432b1f534d11933631aa51f79418
8 N728a280fdecc49f3b10d6f5aed04e5a5
9 N866422f42754403fbf0cd516d08be1d3
10 N8730b030986549cbbebc050da74e74b8
11 N96e70f84925d465fa630dd637c0fdd4b
12 Na877447f0f464e45a679bc00fdcc30ca
13 Naf37174439ff461695ed1f42669f356b
14 Nbc33da5a7333453ab02142b10c69162c
15 Nbece448e31a6444da158dcd53c8d28d1
16 Ncb2df137e51f4211baba3e261e4c4ba8
17 Nddb76329c7f84f219a988b72539dc07c
18 Ne02934bb914046ea9edfd5cc34080f25
19 Nf3f67f1c07ac4760872557f7987c5602
20 Nfa3d95edb05d4c08a8995db376b4097e
21 anzsrc-for:06
22 anzsrc-for:0604
23 schema:author N8cf8dec409aa4336b5faeeaea4174ba1
24 schema:citation sg:pub.10.1007/s100380050156
25 sg:pub.10.1038/ng0297-157
26 sg:pub.10.1111/j.1523-1755.2005.00203.x
27 https://app.dimensions.ai/details/publication/pub.1074845597
28 https://app.dimensions.ai/details/publication/pub.1074851639
29 https://app.dimensions.ai/details/publication/pub.1076617910
30 https://app.dimensions.ai/details/publication/pub.1081892413
31 https://app.dimensions.ai/details/publication/pub.1082932483
32 https://doi.org/10.1002/(sici)1096-8628(19980413)76:5<395::aid-ajmg6>3.0.co;2-m
33 https://doi.org/10.1002/(sici)1096-8628(19980923)79:3<209::aid-ajmg12>3.0.co;2-l
34 https://doi.org/10.1002/(sici)1098-1004(1998)11:6<432::aid-humu3>3.0.co;2-z
35 https://doi.org/10.1002/ajmg.1320020305
36 https://doi.org/10.1002/ajmg.1320510222
37 https://doi.org/10.1002/ajmg.1320580413
38 https://doi.org/10.1002/humu.20048
39 https://doi.org/10.1016/0925-4439(95)00059-d
40 https://doi.org/10.1016/s0888-7543(05)80102-8
41 https://doi.org/10.1073/pnas.0308475101
42 https://doi.org/10.1086/316939
43 https://doi.org/10.1089/gte.1997.1.243
44 https://doi.org/10.1093/hmg/6.13.2247
45 https://doi.org/10.1093/hmg/9.3.363
46 https://doi.org/10.1093/nar/15.17.7155
47 https://doi.org/10.1111/j.1399-0004.1976.tb01546.x
48 https://doi.org/10.1111/j.1442-200x.2004.01935.x
49 https://doi.org/10.1136/jmg.37.8.623
50 https://doi.org/10.1681/asn.2004121083
51 schema:datePublished 2006-04
52 schema:datePublishedReg 2006-04-01
53 schema:description We isolated genomic DNA from 15 patients with branchio-oto-renal (BOR) syndrome or BOR-related conditions. Seven patients had BOR syndrome (two familial and five sporadic), and eight had deafness and renal malformations without branchial fistula (BOR-related conditions). We analyzed all exons and exon-intron boundaries of EYA1 and SIX1 using the polymerase chain reaction (PCR) direct sequencing, and characterized their mutations. In some patients, analysis of mRNA by reverse transcription (RT)-PCR was performed to examine whether the mutation affects the mRNA splicing. We identified five novel disease-causing heterozygous EYA1 mutations in five patients with BOR syndrome (two familial and three sporadic, 5/7=71%), but EYA1 and SIX1 mutations were not detected in the other two patients with BOR syndrome or any of the patients with BOR-related conditions. The detected EYA1 mutations were two nonsense mutations, two splicing acceptor-site mutations, and a point mutation (G>T) of the first base of exon 10. Analysis of mRNA by RT-PCR direct sequencing revealed that the latter point mutation led to the skipping of exon 10. In conclusion, (1) EYA1 mutations are a major cause of BOR syndrome in Japanese, (2) EYA1 and SIX1 mutations were not a major cause of BOR-related conditions, (3) we demonstrated for the first time that the point mutation (G>T) of the first base of the exon in EYA1 gene induced exon skipping.
54 schema:genre research_article
55 schema:inLanguage en
56 schema:isAccessibleForFree false
57 schema:isPartOf N7b67c08b8b4a4415b30dcbf0bd2779a5
58 N7be45eaf68fe4ede85995c9638344f59
59 sg:journal.1097267
60 schema:name EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions
61 schema:pagination 475-481
62 schema:productId N0b39bae11f1d4d17a65b6bb0e8933ff3
63 N19b3b0ecc471455a976a5d9726dffd13
64 N56c6583b81dd461396487f13a5c75152
65 N5e81d664aeca49a3bda8a5b48f5094bd
66 N91943e268f3c4dc5949327ce3af8fa5a
67 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022935336
68 https://doi.org/10.1007/s00467-006-0041-6
69 schema:sdDatePublished 2019-04-11T12:54
70 schema:sdLicense https://scigraph.springernature.com/explorer/license/
71 schema:sdPublisher N2db662ffeb0d42e68c5512771343e463
72 schema:url http://link.springer.com/10.1007/s00467-006-0041-6
73 sgo:license sg:explorer/license/
74 sgo:sdDataset articles
75 rdf:type schema:ScholarlyArticle
76 N0b39bae11f1d4d17a65b6bb0e8933ff3 schema:name pubmed_id
77 schema:value 16491411
78 rdf:type schema:PropertyValue
79 N19b3b0ecc471455a976a5d9726dffd13 schema:name doi
80 schema:value 10.1007/s00467-006-0041-6
81 rdf:type schema:PropertyValue
82 N1d36be01d4114633a994e72183fcf698 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
83 schema:name Syndrome
84 rdf:type schema:DefinedTerm
85 N2357726ed5ec465a97dc828d9c5bd744 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
86 schema:name Child
87 rdf:type schema:DefinedTerm
88 N259b44750e884b439b3d7aded3aa90f1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
89 schema:name DNA Mutational Analysis
90 rdf:type schema:DefinedTerm
91 N2db662ffeb0d42e68c5512771343e463 schema:name Springer Nature - SN SciGraph project
92 rdf:type schema:Organization
93 N2f6975ac78d648ecb60deb761b5a44df rdf:first sg:person.01205306652.19
94 rdf:rest N85173fce41e44e9e9a2e6caab06ab662
95 N30798179d5e94d2dbfee72a371aef971 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
96 schema:name Kidney
97 rdf:type schema:DefinedTerm
98 N311f1ca256814604a45f681c8ea80341 rdf:first N6bbcc79548694f3ca5a8b9431b6182d3
99 rdf:rest N6033787239a2424b8d1f873f6c7ffcca
100 N4468ccad54e84657a1af64a11331db17 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
101 schema:name Ear
102 rdf:type schema:DefinedTerm
103 N506fc8d4a3fc42a5a4fbf971de587def schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
104 schema:name Pedigree
105 rdf:type schema:DefinedTerm
106 N56c6583b81dd461396487f13a5c75152 schema:name nlm_unique_id
107 schema:value 8708728
108 rdf:type schema:PropertyValue
109 N59d8d2cf3122487b94941d429f839687 rdf:first sg:person.0717317506.56
110 rdf:rest N2f6975ac78d648ecb60deb761b5a44df
111 N5c27a7a612354fd8a8b37b37c724139b rdf:first sg:person.01352761505.35
112 rdf:rest Ne61078ebf11a4a89aabef2159bafa6d7
113 N5e81d664aeca49a3bda8a5b48f5094bd schema:name dimensions_id
114 schema:value pub.1022935336
115 rdf:type schema:PropertyValue
116 N6033787239a2424b8d1f873f6c7ffcca rdf:first sg:person.01367243227.07
117 rdf:rest N59d8d2cf3122487b94941d429f839687
118 N6455432b1f534d11933631aa51f79418 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
119 schema:name Adolescent
120 rdf:type schema:DefinedTerm
121 N6bbcc79548694f3ca5a8b9431b6182d3 schema:affiliation https://www.grid.ac/institutes/grid.410810.c
122 schema:familyName Kaku
123 schema:givenName Yoshikazu
124 rdf:type schema:Person
125 N728a280fdecc49f3b10d6f5aed04e5a5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
126 schema:name Female
127 rdf:type schema:DefinedTerm
128 N7b67c08b8b4a4415b30dcbf0bd2779a5 schema:issueNumber 4
129 rdf:type schema:PublicationIssue
130 N7be45eaf68fe4ede85995c9638344f59 schema:volumeNumber 21
131 rdf:type schema:PublicationVolume
132 N85173fce41e44e9e9a2e6caab06ab662 rdf:first sg:person.01360637141.54
133 rdf:rest rdf:nil
134 N866422f42754403fbf0cd516d08be1d3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
135 schema:name Child, Preschool
136 rdf:type schema:DefinedTerm
137 N8730b030986549cbbebc050da74e74b8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
138 schema:name Homeodomain Proteins
139 rdf:type schema:DefinedTerm
140 N8cf8dec409aa4336b5faeeaea4174ba1 rdf:first sg:person.0731602403.34
141 rdf:rest N5c27a7a612354fd8a8b37b37c724139b
142 N91943e268f3c4dc5949327ce3af8fa5a schema:name readcube_id
143 schema:value 6d44c08f528c5f4e7c780cd452c7c0055a8eaf2155a1b9ff96571c105772c39c
144 rdf:type schema:PropertyValue
145 N96e70f84925d465fa630dd637c0fdd4b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
146 schema:name Intracellular Signaling Peptides and Proteins
147 rdf:type schema:DefinedTerm
148 Na877447f0f464e45a679bc00fdcc30ca schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
149 schema:name Humans
150 rdf:type schema:DefinedTerm
151 Naf37174439ff461695ed1f42669f356b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
152 schema:name Japan
153 rdf:type schema:DefinedTerm
154 Nbc33da5a7333453ab02142b10c69162c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
155 schema:name Abnormalities, Multiple
156 rdf:type schema:DefinedTerm
157 Nbece448e31a6444da158dcd53c8d28d1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
158 schema:name Nuclear Proteins
159 rdf:type schema:DefinedTerm
160 Ncb2df137e51f4211baba3e261e4c4ba8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
161 schema:name Adult
162 rdf:type schema:DefinedTerm
163 Nd5d38cf1773a42d994c1abbc5f07ab65 rdf:first sg:person.01017574641.23
164 rdf:rest N311f1ca256814604a45f681c8ea80341
165 Nddb76329c7f84f219a988b72539dc07c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
166 schema:name Protein Tyrosine Phosphatases
167 rdf:type schema:DefinedTerm
168 Ne02934bb914046ea9edfd5cc34080f25 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
169 schema:name Mutation
170 rdf:type schema:DefinedTerm
171 Ne61078ebf11a4a89aabef2159bafa6d7 rdf:first sg:person.0721153065.12
172 rdf:rest Nd5d38cf1773a42d994c1abbc5f07ab65
173 Nf3f67f1c07ac4760872557f7987c5602 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
174 schema:name Branchial Region
175 rdf:type schema:DefinedTerm
176 Nfa3d95edb05d4c08a8995db376b4097e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
177 schema:name Male
178 rdf:type schema:DefinedTerm
179 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
180 schema:name Biological Sciences
181 rdf:type schema:DefinedTerm
182 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
183 schema:name Genetics
184 rdf:type schema:DefinedTerm
185 sg:journal.1097267 schema:issn 0931-041X
186 1432-198X
187 schema:name Pediatric Nephrology
188 rdf:type schema:Periodical
189 sg:person.01017574641.23 schema:affiliation https://www.grid.ac/institutes/grid.416629.e
190 schema:familyName Satomura
191 schema:givenName Kenichi
192 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01017574641.23
193 rdf:type schema:Person
194 sg:person.01205306652.19 schema:affiliation https://www.grid.ac/institutes/grid.63906.3a
195 schema:familyName Okuyama
196 schema:givenName Torayuki
197 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01205306652.19
198 rdf:type schema:Person
199 sg:person.01352761505.35 schema:affiliation https://www.grid.ac/institutes/grid.63906.3a
200 schema:familyName Fujimaru
201 schema:givenName Rika
202 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01352761505.35
203 rdf:type schema:Person
204 sg:person.01360637141.54 schema:affiliation https://www.grid.ac/institutes/grid.63906.3a
205 schema:familyName Iijima
206 schema:givenName Kazumoto
207 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01360637141.54
208 rdf:type schema:Person
209 sg:person.01367243227.07 schema:affiliation https://www.grid.ac/institutes/grid.414470.2
210 schema:familyName Tsuzuki
211 schema:givenName Kazuo
212 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01367243227.07
213 rdf:type schema:Person
214 sg:person.0717317506.56 schema:affiliation https://www.grid.ac/institutes/grid.31432.37
215 schema:familyName Nozu
216 schema:givenName Kandai
217 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717317506.56
218 rdf:type schema:Person
219 sg:person.0721153065.12 schema:affiliation https://www.grid.ac/institutes/grid.63906.3a
220 schema:familyName Morimoto
221 schema:givenName Noriko
222 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0721153065.12
223 rdf:type schema:Person
224 sg:person.0731602403.34 schema:affiliation https://www.grid.ac/institutes/grid.63906.3a
225 schema:familyName Okada
226 schema:givenName Michiyo
227 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0731602403.34
228 rdf:type schema:Person
229 sg:pub.10.1007/s100380050156 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036783429
230 https://doi.org/10.1007/s100380050156
231 rdf:type schema:CreativeWork
232 sg:pub.10.1038/ng0297-157 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019996401
233 https://doi.org/10.1038/ng0297-157
234 rdf:type schema:CreativeWork
235 sg:pub.10.1111/j.1523-1755.2005.00203.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1044068778
236 https://doi.org/10.1111/j.1523-1755.2005.00203.x
237 rdf:type schema:CreativeWork
238 https://app.dimensions.ai/details/publication/pub.1074845597 schema:CreativeWork
239 https://app.dimensions.ai/details/publication/pub.1074851639 schema:CreativeWork
240 https://app.dimensions.ai/details/publication/pub.1076617910 schema:CreativeWork
241 https://app.dimensions.ai/details/publication/pub.1081892413 schema:CreativeWork
242 https://app.dimensions.ai/details/publication/pub.1082932483 schema:CreativeWork
243 https://doi.org/10.1002/(sici)1096-8628(19980413)76:5<395::aid-ajmg6>3.0.co;2-m schema:sameAs https://app.dimensions.ai/details/publication/pub.1042251577
244 rdf:type schema:CreativeWork
245 https://doi.org/10.1002/(sici)1096-8628(19980923)79:3<209::aid-ajmg12>3.0.co;2-l schema:sameAs https://app.dimensions.ai/details/publication/pub.1044267087
246 rdf:type schema:CreativeWork
247 https://doi.org/10.1002/(sici)1098-1004(1998)11:6<432::aid-humu3>3.0.co;2-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1048663022
248 rdf:type schema:CreativeWork
249 https://doi.org/10.1002/ajmg.1320020305 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018857776
250 rdf:type schema:CreativeWork
251 https://doi.org/10.1002/ajmg.1320510222 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044641614
252 rdf:type schema:CreativeWork
253 https://doi.org/10.1002/ajmg.1320580413 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033394971
254 rdf:type schema:CreativeWork
255 https://doi.org/10.1002/humu.20048 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030720308
256 rdf:type schema:CreativeWork
257 https://doi.org/10.1016/0925-4439(95)00059-d schema:sameAs https://app.dimensions.ai/details/publication/pub.1047324021
258 rdf:type schema:CreativeWork
259 https://doi.org/10.1016/s0888-7543(05)80102-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038081278
260 rdf:type schema:CreativeWork
261 https://doi.org/10.1073/pnas.0308475101 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002086374
262 rdf:type schema:CreativeWork
263 https://doi.org/10.1086/316939 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058621879
264 rdf:type schema:CreativeWork
265 https://doi.org/10.1089/gte.1997.1.243 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059267015
266 rdf:type schema:CreativeWork
267 https://doi.org/10.1093/hmg/6.13.2247 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029835982
268 rdf:type schema:CreativeWork
269 https://doi.org/10.1093/hmg/9.3.363 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031427384
270 rdf:type schema:CreativeWork
271 https://doi.org/10.1093/nar/15.17.7155 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026177973
272 rdf:type schema:CreativeWork
273 https://doi.org/10.1111/j.1399-0004.1976.tb01546.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1035226563
274 rdf:type schema:CreativeWork
275 https://doi.org/10.1111/j.1442-200x.2004.01935.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1015361481
276 rdf:type schema:CreativeWork
277 https://doi.org/10.1136/jmg.37.8.623 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040486522
278 rdf:type schema:CreativeWork
279 https://doi.org/10.1681/asn.2004121083 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018755600
280 rdf:type schema:CreativeWork
281 https://www.grid.ac/institutes/grid.31432.37 schema:alternateName Kobe University
282 schema:name Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan
283 rdf:type schema:Organization
284 https://www.grid.ac/institutes/grid.410810.c schema:alternateName Fukuoka Children's Hospital and Medical Center for Infectious Diseases
285 schema:name Department of Nephrology, Fukuoka Children’s Hospital, Fukuoka, Japan
286 rdf:type schema:Organization
287 https://www.grid.ac/institutes/grid.414470.2 schema:alternateName Chukyo Hospital
288 schema:name Department of Pediatrics, Chukyo Hospital, Nagoya, Japan
289 rdf:type schema:Organization
290 https://www.grid.ac/institutes/grid.416629.e schema:alternateName Osaka Medical Center and Research Institute for Maternal and Child Health
291 schema:name Division of Pediatric Nephrology and Metabolisms, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan
292 rdf:type schema:Organization
293 https://www.grid.ac/institutes/grid.63906.3a schema:alternateName National Center For Child Health and Development
294 schema:name Department of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, Tokyo, Japan
295 Department of Nephrology, National Children’s Medical Center, National Center for Child Health and Development, 10-1, Okura 2chome, Setagaya-ku, 157-8535, Tokyo, Japan
296 Department of Otolaryngology and Communication Disorder, National Center for Child Health and Development, Tokyo, Japan
297 rdf:type schema:Organization
 




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


...