A homozygous NOP14 variant is likely to cause recurrent pregnancy loss View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-02-13

AUTHORS

Toshifumi Suzuki, Mahdiyeh Behnam, Firooze Ronasian, Mansoor Salehi, Masaaki Shiina, Eriko Koshimizu, Atsushi Fujita, Futoshi Sekiguchi, Satoko Miyatake, Takeshi Mizuguchi, Mitsuko Nakashima, Kazuhiro Ogata, Satoru Takeda, Naomichi Matsumoto, Noriko Miyake

ABSTRACT

Recurrent pregnancy loss is newly defined as more than two consecutive miscarriages. Recurrent pregnancy loss occurs in <5% of total pregnancies. The cause in approximately 40–60% of recurrent pregnancy loss cases remains elusive and must be determined. We investigated two unrelated Iranian consanguineous families with recurrent pregnancy loss. We performed exome sequencing using DNA from a miscarriage tissue and identified a homozygous NOP14 missense variant (c.[136C>G];[136C>G]) in both families. NOP14 is an evolutionally conserved protein among eukaryotes and is required for 18S rRNA processing and 40S ribosome biogenesis. Interestingly, in zebrafish, homozygous mutation of nop14 (possibly loss of function) resulting from retrovirus-mediated insertional mutagenesis led to embryonic lethality at 5 days after fertilization, mimicking early pregnancy loss in humans. Similarly, it is known that the nop14-null yeast is inviable. These data suggest that the homozygous NOP14 mutation is likely to cause recurrent pregnancy loss. Furthermore, this study shows that exome sequencing is very useful to determine the etiology of unsolved recurrent pregnancy loss. More... »

PAGES

425-430

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s10038-018-0410-6

DOI

http://dx.doi.org/10.1038/s10038-018-0410-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1101006467

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29440706


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/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1114", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Paediatrics and Reproductive Medicine", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Abortion, Habitual", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Alleles", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Amino Acid Substitution", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosome Mapping", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Consanguinity", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Copy Number Variations", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Association Studies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Predisposition to Disease", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Homozygote", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Iran", 
        "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": "Phenotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pregnancy", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Whole Exome Sequencing", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan", 
          "id": "http://www.grid.ac/institutes/grid.258269.2", 
          "name": [
            "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan", 
            "Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Suzuki", 
        "givenName": "Toshifumi", 
        "id": "sg:person.0666061116.10", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0666061116.10"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Medical Genetics Center of Genome, Isfahan, Iran", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Medical Genetics Center of Genome, Isfahan, Iran"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Behnam", 
        "givenName": "Mahdiyeh", 
        "id": "sg:person.01344075176.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01344075176.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Medical Genetics Center of Genome, Isfahan, Iran", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Medical Genetics Center of Genome, Isfahan, Iran"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ronasian", 
        "givenName": "Firooze", 
        "id": "sg:person.0755412447.53", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755412447.53"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Division of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran", 
          "id": "http://www.grid.ac/institutes/grid.411036.1", 
          "name": [
            "Division of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Salehi", 
        "givenName": "Mansoor", 
        "id": "sg:person.01067566362.76", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01067566362.76"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shiina", 
        "givenName": "Masaaki", 
        "id": "sg:person.01256113406.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01256113406.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Koshimizu", 
        "givenName": "Eriko", 
        "id": "sg:person.01150200674.87", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01150200674.87"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fujita", 
        "givenName": "Atsushi", 
        "id": "sg:person.0665566724.29", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0665566724.29"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Obstetrics and Gynecology, Yokohama City University Graduate School of Medicine, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan", 
            "Department of Obstetrics and Gynecology, Yokohama City University Graduate School of Medicine, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sekiguchi", 
        "givenName": "Futoshi", 
        "id": "sg:person.07674142554.07", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07674142554.07"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.470126.6", 
          "name": [
            "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan", 
            "Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Miyatake", 
        "givenName": "Satoko", 
        "id": "sg:person.0661323161.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0661323161.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mizuguchi", 
        "givenName": "Takeshi", 
        "id": "sg:person.01213474560.37", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01213474560.37"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nakashima", 
        "givenName": "Mitsuko", 
        "id": "sg:person.01337752440.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01337752440.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ogata", 
        "givenName": "Kazuhiro", 
        "id": "sg:person.0737306417.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0737306417.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan", 
          "id": "http://www.grid.ac/institutes/grid.258269.2", 
          "name": [
            "Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Takeda", 
        "givenName": "Satoru", 
        "id": "sg:person.01341765554.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01341765554.43"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan", 
          "id": "http://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": "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan", 
          "id": "http://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"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/jhg.2016.39", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012229243", 
          "https://doi.org/10.1038/jhg.2016.39"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/jhg.2014.124", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050739581", 
          "https://doi.org/10.1038/jhg.2014.124"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2014.120", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039898690", 
          "https://doi.org/10.1038/ejhg.2014.120"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature19057", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022281897", 
          "https://doi.org/10.1038/nature19057"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10815-008-9216-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002938487", 
          "https://doi.org/10.1007/s10815-008-9216-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/jhg.2016.12", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016186613", 
          "https://doi.org/10.1038/jhg.2016.12"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3592", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046411369", 
          "https://doi.org/10.1038/ng.3592"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2012.130", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048083049", 
          "https://doi.org/10.1038/gim.2012.130"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ncomms5011", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048014942", 
          "https://doi.org/10.1038/ncomms5011"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2018-02-13", 
    "datePublishedReg": "2018-02-13", 
    "description": "Recurrent pregnancy loss is newly defined as more than two consecutive miscarriages. Recurrent pregnancy loss occurs in <5% of total pregnancies. The cause in approximately 40\u201360% of recurrent pregnancy loss cases remains elusive and must be determined. We investigated two unrelated Iranian consanguineous families with recurrent pregnancy loss. We performed exome sequencing using DNA from a miscarriage tissue and identified a homozygous NOP14 missense variant (c.[136C>G];[136C>G]) in both families. NOP14 is an evolutionally conserved protein among eukaryotes and is required for 18S rRNA processing and 40S ribosome biogenesis. Interestingly, in zebrafish, homozygous mutation of nop14 (possibly loss of function) resulting from retrovirus-mediated insertional mutagenesis led to embryonic lethality at 5 days after fertilization, mimicking early pregnancy loss in humans. Similarly, it is known that the nop14-null yeast is inviable. These data suggest that the homozygous NOP14 mutation is likely to cause recurrent pregnancy loss. Furthermore, this study shows that exome sequencing is very useful to determine the etiology of unsolved recurrent pregnancy loss.", 
    "genre": "article", 
    "id": "sg:pub.10.1038/s10038-018-0410-6", 
    "inLanguage": "en", 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.6819771", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.5907324", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.6841052", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.9339507", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.9339869", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.9338676", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.5901650", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.7702180", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1294984", 
        "issn": [
          "1434-5161", 
          "1435-232X"
        ], 
        "name": "Journal of Human Genetics", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "63"
      }
    ], 
    "keywords": [
      "recurrent pregnancy loss", 
      "pregnancy loss", 
      "recurrent pregnancy loss cases", 
      "early pregnancy loss", 
      "exome sequencing", 
      "total pregnancies", 
      "consecutive miscarriages", 
      "miscarriage tissue", 
      "missense variants", 
      "homozygous mutation", 
      "consanguineous family", 
      "Iranian consanguineous family", 
      "NOP14", 
      "loss cases", 
      "pregnancy", 
      "miscarriage", 
      "etiology", 
      "loss", 
      "mutations", 
      "cause", 
      "variants", 
      "embryonic lethality", 
      "tissue", 
      "days", 
      "retroviruses", 
      "sequencing", 
      "humans", 
      "lethality", 
      "family", 
      "study", 
      "cases", 
      "protein", 
      "insertional mutagenesis", 
      "fertilization", 
      "data", 
      "DNA", 
      "biogenesis", 
      "mutagenesis", 
      "ribosome biogenesis", 
      "processing", 
      "yeast", 
      "rRNA processing", 
      "eukaryotes", 
      "pregnancy loss cases", 
      "unrelated Iranian consanguineous families", 
      "homozygous NOP14 missense variant", 
      "NOP14 missense variant", 
      "nop14-null yeast", 
      "homozygous NOP14 mutation", 
      "NOP14 mutation", 
      "unsolved recurrent pregnancy loss", 
      "homozygous NOP14 variant", 
      "NOP14 variant"
    ], 
    "name": "A homozygous NOP14 variant is likely to cause recurrent pregnancy loss", 
    "pagination": "425-430", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1101006467"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/s10038-018-0410-6"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "29440706"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/s10038-018-0410-6", 
      "https://app.dimensions.ai/details/publication/pub.1101006467"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2021-12-01T19:43", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20211201/entities/gbq_results/article/article_789.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1038/s10038-018-0410-6"
  }
]
 

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.10.1038/s10038-018-0410-6'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s10038-018-0410-6'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s10038-018-0410-6'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s10038-018-0410-6'


 

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

355 TRIPLES      22 PREDICATES      106 URIs      89 LITERALS      25 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/s10038-018-0410-6 schema:about N07d72427ea3e4fc4820864e005ed9139
2 N1c2f96b59c304d9d8ed037f5e0a19c46
3 N1ea88f7237c54341b3494c8970f67688
4 N2952f7d142d840c5944e9311e9801ec7
5 N3ca00a2cc3144803bcd2eb5db7dc1a1b
6 N52802b1ab9ba46d2a9e06b1d9576092d
7 N54aea825321243d9910b49bd074e1baf
8 N560e6ec957e94088b67f87dae3dd9f38
9 N5cd53a8b714842178eb2f804f152e66a
10 N666ace6ced30432d904c178c7842ba7c
11 N8beee9e4847e4e69ad2a15b6789c1bdd
12 Nb78fc0f6458f478d85f7abc9e1fa1d19
13 Ncd7dfbd20e954e66871af3551726b6cd
14 Ne57c8953a5c04394883b2cbfbeb4839f
15 Ne5ac65fe31924a8386d5f5eba044d9a5
16 Ne93711e32584452a84ed952bb4063adb
17 Nfb370cd1eee74f6aad5b1ddf7ec31149
18 Nfbc9de6301204c929543ab57466ea0ef
19 anzsrc-for:11
20 anzsrc-for:1114
21 schema:author N3e1088d298a243408add52b08daca3ca
22 schema:citation sg:pub.10.1007/s10815-008-9216-3
23 sg:pub.10.1038/ejhg.2014.120
24 sg:pub.10.1038/gim.2012.130
25 sg:pub.10.1038/jhg.2014.124
26 sg:pub.10.1038/jhg.2016.12
27 sg:pub.10.1038/jhg.2016.39
28 sg:pub.10.1038/nature19057
29 sg:pub.10.1038/ncomms5011
30 sg:pub.10.1038/ng.3592
31 schema:datePublished 2018-02-13
32 schema:datePublishedReg 2018-02-13
33 schema:description Recurrent pregnancy loss is newly defined as more than two consecutive miscarriages. Recurrent pregnancy loss occurs in <5% of total pregnancies. The cause in approximately 40–60% of recurrent pregnancy loss cases remains elusive and must be determined. We investigated two unrelated Iranian consanguineous families with recurrent pregnancy loss. We performed exome sequencing using DNA from a miscarriage tissue and identified a homozygous NOP14 missense variant (c.[136C>G];[136C>G]) in both families. NOP14 is an evolutionally conserved protein among eukaryotes and is required for 18S rRNA processing and 40S ribosome biogenesis. Interestingly, in zebrafish, homozygous mutation of nop14 (possibly loss of function) resulting from retrovirus-mediated insertional mutagenesis led to embryonic lethality at 5 days after fertilization, mimicking early pregnancy loss in humans. Similarly, it is known that the nop14-null yeast is inviable. These data suggest that the homozygous NOP14 mutation is likely to cause recurrent pregnancy loss. Furthermore, this study shows that exome sequencing is very useful to determine the etiology of unsolved recurrent pregnancy loss.
34 schema:genre article
35 schema:inLanguage en
36 schema:isAccessibleForFree false
37 schema:isPartOf N3ec8213d00aa40d09c43b5e9409a7a5b
38 Nad177708f6c54523bde5a1aa1d8ae505
39 sg:journal.1294984
40 schema:keywords DNA
41 Iranian consanguineous family
42 NOP14
43 NOP14 missense variant
44 NOP14 mutation
45 NOP14 variant
46 biogenesis
47 cases
48 cause
49 consanguineous family
50 consecutive miscarriages
51 data
52 days
53 early pregnancy loss
54 embryonic lethality
55 etiology
56 eukaryotes
57 exome sequencing
58 family
59 fertilization
60 homozygous NOP14 missense variant
61 homozygous NOP14 mutation
62 homozygous NOP14 variant
63 homozygous mutation
64 humans
65 insertional mutagenesis
66 lethality
67 loss
68 loss cases
69 miscarriage
70 miscarriage tissue
71 missense variants
72 mutagenesis
73 mutations
74 nop14-null yeast
75 pregnancy
76 pregnancy loss
77 pregnancy loss cases
78 processing
79 protein
80 rRNA processing
81 recurrent pregnancy loss
82 recurrent pregnancy loss cases
83 retroviruses
84 ribosome biogenesis
85 sequencing
86 study
87 tissue
88 total pregnancies
89 unrelated Iranian consanguineous families
90 unsolved recurrent pregnancy loss
91 variants
92 yeast
93 schema:name A homozygous NOP14 variant is likely to cause recurrent pregnancy loss
94 schema:pagination 425-430
95 schema:productId N358bbf06886c47e1a3d320499edd00bb
96 N67a6a7f3c5e34955b4352cc122a9a2d8
97 Nd5afdb1c92fb424c9e326dfab52d7d5e
98 schema:sameAs https://app.dimensions.ai/details/publication/pub.1101006467
99 https://doi.org/10.1038/s10038-018-0410-6
100 schema:sdDatePublished 2021-12-01T19:43
101 schema:sdLicense https://scigraph.springernature.com/explorer/license/
102 schema:sdPublisher N87689820bf1f4944aa87d90c024a7a79
103 schema:url https://doi.org/10.1038/s10038-018-0410-6
104 sgo:license sg:explorer/license/
105 sgo:sdDataset articles
106 rdf:type schema:ScholarlyArticle
107 N07d72427ea3e4fc4820864e005ed9139 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
108 schema:name Humans
109 rdf:type schema:DefinedTerm
110 N0aff3ba22677459486479bc2e404c3dc rdf:first sg:person.01020376771.12
111 rdf:rest Na6ab52c933fb48e581d1e73bb5a77ec4
112 N1c2f96b59c304d9d8ed037f5e0a19c46 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
113 schema:name Genetic Association Studies
114 rdf:type schema:DefinedTerm
115 N1ea88f7237c54341b3494c8970f67688 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
116 schema:name Iran
117 rdf:type schema:DefinedTerm
118 N2952f7d142d840c5944e9311e9801ec7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
119 schema:name Pregnancy
120 rdf:type schema:DefinedTerm
121 N2f14ca99e793467bbb61aa881ed86c33 rdf:first sg:person.01256113406.31
122 rdf:rest Nb3126510582c4d99af4f35b125d48063
123 N34410e0b204141da8fa208950839eaec rdf:first sg:person.01213474560.37
124 rdf:rest Ne3af6ba2827944ee805027f26550b3fe
125 N358bbf06886c47e1a3d320499edd00bb schema:name pubmed_id
126 schema:value 29440706
127 rdf:type schema:PropertyValue
128 N3ca00a2cc3144803bcd2eb5db7dc1a1b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
129 schema:name Abortion, Habitual
130 rdf:type schema:DefinedTerm
131 N3e1088d298a243408add52b08daca3ca rdf:first sg:person.0666061116.10
132 rdf:rest N9d78cd1cf6c74deca3127b596c505a30
133 N3ec8213d00aa40d09c43b5e9409a7a5b schema:volumeNumber 63
134 rdf:type schema:PublicationVolume
135 N50eaf15bf3a745ba83a5923248812c19 rdf:first sg:person.01067566362.76
136 rdf:rest N2f14ca99e793467bbb61aa881ed86c33
137 N52802b1ab9ba46d2a9e06b1d9576092d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
138 schema:name Homozygote
139 rdf:type schema:DefinedTerm
140 N54aea825321243d9910b49bd074e1baf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
141 schema:name Chromosome Mapping
142 rdf:type schema:DefinedTerm
143 N560e6ec957e94088b67f87dae3dd9f38 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
144 schema:name Female
145 rdf:type schema:DefinedTerm
146 N5cd53a8b714842178eb2f804f152e66a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
147 schema:name Genetic Predisposition to Disease
148 rdf:type schema:DefinedTerm
149 N5e2270883b6341fa87b6b629856d7014 rdf:first sg:person.0755412447.53
150 rdf:rest N50eaf15bf3a745ba83a5923248812c19
151 N666ace6ced30432d904c178c7842ba7c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
152 schema:name Alleles
153 rdf:type schema:DefinedTerm
154 N67a6a7f3c5e34955b4352cc122a9a2d8 schema:name doi
155 schema:value 10.1038/s10038-018-0410-6
156 rdf:type schema:PropertyValue
157 N87689820bf1f4944aa87d90c024a7a79 schema:name Springer Nature - SN SciGraph project
158 rdf:type schema:Organization
159 N8beee9e4847e4e69ad2a15b6789c1bdd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
160 schema:name Nuclear Proteins
161 rdf:type schema:DefinedTerm
162 N9d78cd1cf6c74deca3127b596c505a30 rdf:first sg:person.01344075176.14
163 rdf:rest N5e2270883b6341fa87b6b629856d7014
164 Na30b7a242e484e8e8fce598077dfb3ba rdf:first sg:person.0661323161.22
165 rdf:rest N34410e0b204141da8fa208950839eaec
166 Na6ab52c933fb48e581d1e73bb5a77ec4 rdf:first sg:person.01027727764.75
167 rdf:rest rdf:nil
168 Nad177708f6c54523bde5a1aa1d8ae505 schema:issueNumber 4
169 rdf:type schema:PublicationIssue
170 Nb3126510582c4d99af4f35b125d48063 rdf:first sg:person.01150200674.87
171 rdf:rest Nd422297754f34c478a1b449064472d33
172 Nb78fc0f6458f478d85f7abc9e1fa1d19 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
173 schema:name Whole Exome Sequencing
174 rdf:type schema:DefinedTerm
175 Ncd7dfbd20e954e66871af3551726b6cd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
176 schema:name Pedigree
177 rdf:type schema:DefinedTerm
178 Nce3c780c59744ffcbedb44bef63b841f rdf:first sg:person.07674142554.07
179 rdf:rest Na30b7a242e484e8e8fce598077dfb3ba
180 Nd422297754f34c478a1b449064472d33 rdf:first sg:person.0665566724.29
181 rdf:rest Nce3c780c59744ffcbedb44bef63b841f
182 Nd5afdb1c92fb424c9e326dfab52d7d5e schema:name dimensions_id
183 schema:value pub.1101006467
184 rdf:type schema:PropertyValue
185 Nd8ed05d1fc924605821686d07032dc95 rdf:first sg:person.01341765554.43
186 rdf:rest N0aff3ba22677459486479bc2e404c3dc
187 Ne3af6ba2827944ee805027f26550b3fe rdf:first sg:person.01337752440.22
188 rdf:rest Nfe8cbf9c689b4b028a6ea81d563a6abe
189 Ne57c8953a5c04394883b2cbfbeb4839f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
190 schema:name Phenotype
191 rdf:type schema:DefinedTerm
192 Ne5ac65fe31924a8386d5f5eba044d9a5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
193 schema:name DNA Copy Number Variations
194 rdf:type schema:DefinedTerm
195 Ne93711e32584452a84ed952bb4063adb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
196 schema:name Mutation
197 rdf:type schema:DefinedTerm
198 Nfb370cd1eee74f6aad5b1ddf7ec31149 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
199 schema:name Consanguinity
200 rdf:type schema:DefinedTerm
201 Nfbc9de6301204c929543ab57466ea0ef schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
202 schema:name Amino Acid Substitution
203 rdf:type schema:DefinedTerm
204 Nfe8cbf9c689b4b028a6ea81d563a6abe rdf:first sg:person.0737306417.00
205 rdf:rest Nd8ed05d1fc924605821686d07032dc95
206 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
207 schema:name Medical and Health Sciences
208 rdf:type schema:DefinedTerm
209 anzsrc-for:1114 schema:inDefinedTermSet anzsrc-for:
210 schema:name Paediatrics and Reproductive Medicine
211 rdf:type schema:DefinedTerm
212 sg:grant.5901650 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-018-0410-6
213 rdf:type schema:MonetaryGrant
214 sg:grant.5907324 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-018-0410-6
215 rdf:type schema:MonetaryGrant
216 sg:grant.6819771 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-018-0410-6
217 rdf:type schema:MonetaryGrant
218 sg:grant.6841052 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-018-0410-6
219 rdf:type schema:MonetaryGrant
220 sg:grant.7702180 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-018-0410-6
221 rdf:type schema:MonetaryGrant
222 sg:grant.9338676 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-018-0410-6
223 rdf:type schema:MonetaryGrant
224 sg:grant.9339507 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-018-0410-6
225 rdf:type schema:MonetaryGrant
226 sg:grant.9339869 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-018-0410-6
227 rdf:type schema:MonetaryGrant
228 sg:journal.1294984 schema:issn 1434-5161
229 1435-232X
230 schema:name Journal of Human Genetics
231 schema:publisher Springer Nature
232 rdf:type schema:Periodical
233 sg:person.01020376771.12 schema:affiliation grid-institutes:grid.268441.d
234 schema:familyName Matsumoto
235 schema:givenName Naomichi
236 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01020376771.12
237 rdf:type schema:Person
238 sg:person.01027727764.75 schema:affiliation grid-institutes:grid.268441.d
239 schema:familyName Miyake
240 schema:givenName Noriko
241 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027727764.75
242 rdf:type schema:Person
243 sg:person.01067566362.76 schema:affiliation grid-institutes:grid.411036.1
244 schema:familyName Salehi
245 schema:givenName Mansoor
246 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01067566362.76
247 rdf:type schema:Person
248 sg:person.01150200674.87 schema:affiliation grid-institutes:grid.268441.d
249 schema:familyName Koshimizu
250 schema:givenName Eriko
251 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01150200674.87
252 rdf:type schema:Person
253 sg:person.01213474560.37 schema:affiliation grid-institutes:grid.268441.d
254 schema:familyName Mizuguchi
255 schema:givenName Takeshi
256 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01213474560.37
257 rdf:type schema:Person
258 sg:person.01256113406.31 schema:affiliation grid-institutes:grid.268441.d
259 schema:familyName Shiina
260 schema:givenName Masaaki
261 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01256113406.31
262 rdf:type schema:Person
263 sg:person.01337752440.22 schema:affiliation grid-institutes:grid.268441.d
264 schema:familyName Nakashima
265 schema:givenName Mitsuko
266 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01337752440.22
267 rdf:type schema:Person
268 sg:person.01341765554.43 schema:affiliation grid-institutes:grid.258269.2
269 schema:familyName Takeda
270 schema:givenName Satoru
271 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01341765554.43
272 rdf:type schema:Person
273 sg:person.01344075176.14 schema:affiliation grid-institutes:None
274 schema:familyName Behnam
275 schema:givenName Mahdiyeh
276 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01344075176.14
277 rdf:type schema:Person
278 sg:person.0661323161.22 schema:affiliation grid-institutes:grid.470126.6
279 schema:familyName Miyatake
280 schema:givenName Satoko
281 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0661323161.22
282 rdf:type schema:Person
283 sg:person.0665566724.29 schema:affiliation grid-institutes:grid.268441.d
284 schema:familyName Fujita
285 schema:givenName Atsushi
286 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0665566724.29
287 rdf:type schema:Person
288 sg:person.0666061116.10 schema:affiliation grid-institutes:grid.258269.2
289 schema:familyName Suzuki
290 schema:givenName Toshifumi
291 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0666061116.10
292 rdf:type schema:Person
293 sg:person.0737306417.00 schema:affiliation grid-institutes:grid.268441.d
294 schema:familyName Ogata
295 schema:givenName Kazuhiro
296 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0737306417.00
297 rdf:type schema:Person
298 sg:person.0755412447.53 schema:affiliation grid-institutes:None
299 schema:familyName Ronasian
300 schema:givenName Firooze
301 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755412447.53
302 rdf:type schema:Person
303 sg:person.07674142554.07 schema:affiliation grid-institutes:grid.268441.d
304 schema:familyName Sekiguchi
305 schema:givenName Futoshi
306 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07674142554.07
307 rdf:type schema:Person
308 sg:pub.10.1007/s10815-008-9216-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002938487
309 https://doi.org/10.1007/s10815-008-9216-3
310 rdf:type schema:CreativeWork
311 sg:pub.10.1038/ejhg.2014.120 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039898690
312 https://doi.org/10.1038/ejhg.2014.120
313 rdf:type schema:CreativeWork
314 sg:pub.10.1038/gim.2012.130 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048083049
315 https://doi.org/10.1038/gim.2012.130
316 rdf:type schema:CreativeWork
317 sg:pub.10.1038/jhg.2014.124 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050739581
318 https://doi.org/10.1038/jhg.2014.124
319 rdf:type schema:CreativeWork
320 sg:pub.10.1038/jhg.2016.12 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016186613
321 https://doi.org/10.1038/jhg.2016.12
322 rdf:type schema:CreativeWork
323 sg:pub.10.1038/jhg.2016.39 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012229243
324 https://doi.org/10.1038/jhg.2016.39
325 rdf:type schema:CreativeWork
326 sg:pub.10.1038/nature19057 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022281897
327 https://doi.org/10.1038/nature19057
328 rdf:type schema:CreativeWork
329 sg:pub.10.1038/ncomms5011 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048014942
330 https://doi.org/10.1038/ncomms5011
331 rdf:type schema:CreativeWork
332 sg:pub.10.1038/ng.3592 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046411369
333 https://doi.org/10.1038/ng.3592
334 rdf:type schema:CreativeWork
335 grid-institutes:None schema:alternateName Medical Genetics Center of Genome, Isfahan, Iran
336 schema:name Medical Genetics Center of Genome, Isfahan, Iran
337 rdf:type schema:Organization
338 grid-institutes:grid.258269.2 schema:alternateName Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan
339 schema:name Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
340 Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan
341 rdf:type schema:Organization
342 grid-institutes:grid.268441.d schema:alternateName Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan
343 Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
344 Department of Obstetrics and Gynecology, Yokohama City University Graduate School of Medicine, Yokohama, Japan
345 schema:name Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan
346 Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
347 Department of Obstetrics and Gynecology, Yokohama City University Graduate School of Medicine, Yokohama, Japan
348 rdf:type schema:Organization
349 grid-institutes:grid.411036.1 schema:alternateName Division of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
350 schema:name Division of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
351 rdf:type schema:Organization
352 grid-institutes:grid.470126.6 schema:alternateName Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan
353 schema:name Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan
354 Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
355 rdf:type schema:Organization
 




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


...