A deleterious MYH11 mutation causing familial thoracic aortic dissection View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-12

AUTHORS

Norifumi Takeda, Hiroyuki Morita, Daishi Fujita, Ryo Inuzuka, Yuki Taniguchi, Kan Nawata, Issei Komuro

ABSTRACT

The L1264P and R1275L heterozygous mutations of the myosin heavy chain 11 (MYH11) gene, which are on the same allele, have been reported to cause thoracic aortic aneurysms and/or dissections (TAAD) complicated with patent ductus arteriosus (PDA); however, their contributions to the pathogenesis of TAAD/PDA have not been elucidated. Here we report the first familial case of TAAD with only a MYH11 L1264P mutation, in which PDA was not observed, indicating that L1264P, not R1275L, is responsible for TAAD formation. More... »

PAGES

hgv201528

Journal

TITLE

Human Genome Variation

ISSUE

1

VOLUME

2

Author Affiliations

From Grant

  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/hgv.2015.28

    DOI

    http://dx.doi.org/10.1038/hgv.2015.28

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1003653030

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/27081537


    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"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "University of Tokyo Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412708.8", 
              "name": [
                "Department of Cardiovascular Medicine, The University of Tokyo Hospital, Tokyo, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Takeda", 
            "givenName": "Norifumi", 
            "id": "sg:person.01167245336.22", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167245336.22"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Tokyo Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412708.8", 
              "name": [
                "Department of Cardiovascular Medicine, The University of Tokyo Hospital, Tokyo, Japan", 
                "Department of Translational Research for Healthcare and Clinical Science, The University of Tokyo Hospital, Tokyo, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Morita", 
            "givenName": "Hiroyuki", 
            "id": "sg:person.01114416755.93", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01114416755.93"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Tokyo Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412708.8", 
              "name": [
                "Department of Cardiovascular Medicine, The University of Tokyo Hospital, Tokyo, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Fujita", 
            "givenName": "Daishi", 
            "id": "sg:person.01150107730.46", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01150107730.46"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Tokyo Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412708.8", 
              "name": [
                "Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Inuzuka", 
            "givenName": "Ryo", 
            "id": "sg:person.0754703647.73", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0754703647.73"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Tokyo Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412708.8", 
              "name": [
                "Department of Orthopedic Surgery, The University of Tokyo Hospital, Tokyo, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Taniguchi", 
            "givenName": "Yuki", 
            "id": "sg:person.01210446175.02", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01210446175.02"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Tokyo Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412708.8", 
              "name": [
                "Department of Cardiovascular Surgery, The University of Tokyo Hospital, Tokyo, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nawata", 
            "givenName": "Kan", 
            "id": "sg:person.01167447253.69", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167447253.69"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Tokyo Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412708.8", 
              "name": [
                "Department of Cardiovascular Medicine, The University of Tokyo Hospital, Tokyo, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Komuro", 
            "givenName": "Issei", 
            "id": "sg:person.01012024207.33", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01012024207.33"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1093/hmg/ddm201", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002149671"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2007.6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027803069", 
              "https://doi.org/10.1038/ng.2007.6"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ijcard.2011.08.079", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029316395"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ejhg.2012.206", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032486577", 
              "https://doi.org/10.1038/ejhg.2012.206"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1097/hco.0000000000000023", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035559914"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1097/hco.0000000000000023", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035559914"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1721", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036842259", 
              "https://doi.org/10.1038/ng1721"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1721", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036842259", 
              "https://doi.org/10.1038/ng1721"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.mcp.2012.10.002", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037322916"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ijcard.2015.05.178", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052485978"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.252.5009.1162", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1062542077"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2015-12", 
        "datePublishedReg": "2015-12-01", 
        "description": "The L1264P and R1275L heterozygous mutations of the myosin heavy chain 11 (MYH11) gene, which are on the same allele, have been reported to cause thoracic aortic aneurysms and/or dissections (TAAD) complicated with patent ductus arteriosus (PDA); however, their contributions to the pathogenesis of TAAD/PDA have not been elucidated. Here we report the first familial case of TAAD with only a MYH11 L1264P mutation, in which PDA was not observed, indicating that L1264P, not R1275L, is responsible for TAAD formation. ", 
        "genre": "research_article", 
        "id": "sg:pub.10.1038/hgv.2015.28", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.5871766", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1320608", 
            "issn": [
              "2054-345X"
            ], 
            "name": "Human Genome Variation", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "1", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "2"
          }
        ], 
        "name": "A deleterious MYH11 mutation causing familial thoracic aortic dissection", 
        "pagination": "hgv201528", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "1166d5d87740cf93066a1ea1f9fdb61eff64548edfa91db7e3f3bd36fa8c8476"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "27081537"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "101652445"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/hgv.2015.28"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1003653030"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/hgv.2015.28", 
          "https://app.dimensions.ai/details/publication/pub.1003653030"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-10T15:07", 
        "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_8663_00000549.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "http://www.nature.com/articles/hgv201528"
      }
    ]
     

    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/hgv.2015.28'

    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/hgv.2015.28'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/hgv.2015.28'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/hgv.2015.28'


     

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

    146 TRIPLES      21 PREDICATES      38 URIs      21 LITERALS      9 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/hgv.2015.28 schema:about anzsrc-for:06
    2 anzsrc-for:0604
    3 schema:author N5dd59a7b2efd495ba1e3f8a702200859
    4 schema:citation sg:pub.10.1038/ejhg.2012.206
    5 sg:pub.10.1038/ng.2007.6
    6 sg:pub.10.1038/ng1721
    7 https://doi.org/10.1016/j.ijcard.2011.08.079
    8 https://doi.org/10.1016/j.ijcard.2015.05.178
    9 https://doi.org/10.1016/j.mcp.2012.10.002
    10 https://doi.org/10.1093/hmg/ddm201
    11 https://doi.org/10.1097/hco.0000000000000023
    12 https://doi.org/10.1126/science.252.5009.1162
    13 schema:datePublished 2015-12
    14 schema:datePublishedReg 2015-12-01
    15 schema:description The L1264P and R1275L heterozygous mutations of the myosin heavy chain 11 (MYH11) gene, which are on the same allele, have been reported to cause thoracic aortic aneurysms and/or dissections (TAAD) complicated with patent ductus arteriosus (PDA); however, their contributions to the pathogenesis of TAAD/PDA have not been elucidated. Here we report the first familial case of TAAD with only a MYH11 L1264P mutation, in which PDA was not observed, indicating that L1264P, not R1275L, is responsible for TAAD formation.
    16 schema:genre research_article
    17 schema:inLanguage en
    18 schema:isAccessibleForFree true
    19 schema:isPartOf N3368d9c3d8634074bcf5a50c568e2a07
    20 Nfd0a610805794268bfb9ec4d5ab60f3e
    21 sg:journal.1320608
    22 schema:name A deleterious MYH11 mutation causing familial thoracic aortic dissection
    23 schema:pagination hgv201528
    24 schema:productId N157454cfbb154e91900766ef24f3e625
    25 N662b38689d7244eb93b92a79c48b428e
    26 N8a829ffc2bd24816acd7d15b5e4e9ded
    27 Nd0a1db5548de4222bc53c66a3e079e62
    28 Nd0ea2aa448d545ac9eb4986a8de9a7c4
    29 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003653030
    30 https://doi.org/10.1038/hgv.2015.28
    31 schema:sdDatePublished 2019-04-10T15:07
    32 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    33 schema:sdPublisher N4a3d931a7fd64c5ba43466c08908c835
    34 schema:url http://www.nature.com/articles/hgv201528
    35 sgo:license sg:explorer/license/
    36 sgo:sdDataset articles
    37 rdf:type schema:ScholarlyArticle
    38 N157454cfbb154e91900766ef24f3e625 schema:name readcube_id
    39 schema:value 1166d5d87740cf93066a1ea1f9fdb61eff64548edfa91db7e3f3bd36fa8c8476
    40 rdf:type schema:PropertyValue
    41 N3368d9c3d8634074bcf5a50c568e2a07 schema:volumeNumber 2
    42 rdf:type schema:PublicationVolume
    43 N4a3d931a7fd64c5ba43466c08908c835 schema:name Springer Nature - SN SciGraph project
    44 rdf:type schema:Organization
    45 N5d000d2226ed4d57802445687b5c0a8c rdf:first sg:person.01150107730.46
    46 rdf:rest Ne565b82cb993447b82b315a269f6c16a
    47 N5dd59a7b2efd495ba1e3f8a702200859 rdf:first sg:person.01167245336.22
    48 rdf:rest Nd8b145eff60a4d8aaecb1556eb2501f4
    49 N662b38689d7244eb93b92a79c48b428e schema:name dimensions_id
    50 schema:value pub.1003653030
    51 rdf:type schema:PropertyValue
    52 N801e402349094e27be5d815d9791fffb rdf:first sg:person.01210446175.02
    53 rdf:rest N987525f55d6940ecbee717d1ec714f0e
    54 N8a829ffc2bd24816acd7d15b5e4e9ded schema:name doi
    55 schema:value 10.1038/hgv.2015.28
    56 rdf:type schema:PropertyValue
    57 N987525f55d6940ecbee717d1ec714f0e rdf:first sg:person.01167447253.69
    58 rdf:rest Nf2f17770454f4df98b1c05960311dbd8
    59 Nd0a1db5548de4222bc53c66a3e079e62 schema:name pubmed_id
    60 schema:value 27081537
    61 rdf:type schema:PropertyValue
    62 Nd0ea2aa448d545ac9eb4986a8de9a7c4 schema:name nlm_unique_id
    63 schema:value 101652445
    64 rdf:type schema:PropertyValue
    65 Nd8b145eff60a4d8aaecb1556eb2501f4 rdf:first sg:person.01114416755.93
    66 rdf:rest N5d000d2226ed4d57802445687b5c0a8c
    67 Ne565b82cb993447b82b315a269f6c16a rdf:first sg:person.0754703647.73
    68 rdf:rest N801e402349094e27be5d815d9791fffb
    69 Nf2f17770454f4df98b1c05960311dbd8 rdf:first sg:person.01012024207.33
    70 rdf:rest rdf:nil
    71 Nfd0a610805794268bfb9ec4d5ab60f3e schema:issueNumber 1
    72 rdf:type schema:PublicationIssue
    73 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    74 schema:name Biological Sciences
    75 rdf:type schema:DefinedTerm
    76 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    77 schema:name Genetics
    78 rdf:type schema:DefinedTerm
    79 sg:grant.5871766 http://pending.schema.org/fundedItem sg:pub.10.1038/hgv.2015.28
    80 rdf:type schema:MonetaryGrant
    81 sg:journal.1320608 schema:issn 2054-345X
    82 schema:name Human Genome Variation
    83 rdf:type schema:Periodical
    84 sg:person.01012024207.33 schema:affiliation https://www.grid.ac/institutes/grid.412708.8
    85 schema:familyName Komuro
    86 schema:givenName Issei
    87 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01012024207.33
    88 rdf:type schema:Person
    89 sg:person.01114416755.93 schema:affiliation https://www.grid.ac/institutes/grid.412708.8
    90 schema:familyName Morita
    91 schema:givenName Hiroyuki
    92 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01114416755.93
    93 rdf:type schema:Person
    94 sg:person.01150107730.46 schema:affiliation https://www.grid.ac/institutes/grid.412708.8
    95 schema:familyName Fujita
    96 schema:givenName Daishi
    97 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01150107730.46
    98 rdf:type schema:Person
    99 sg:person.01167245336.22 schema:affiliation https://www.grid.ac/institutes/grid.412708.8
    100 schema:familyName Takeda
    101 schema:givenName Norifumi
    102 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167245336.22
    103 rdf:type schema:Person
    104 sg:person.01167447253.69 schema:affiliation https://www.grid.ac/institutes/grid.412708.8
    105 schema:familyName Nawata
    106 schema:givenName Kan
    107 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167447253.69
    108 rdf:type schema:Person
    109 sg:person.01210446175.02 schema:affiliation https://www.grid.ac/institutes/grid.412708.8
    110 schema:familyName Taniguchi
    111 schema:givenName Yuki
    112 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01210446175.02
    113 rdf:type schema:Person
    114 sg:person.0754703647.73 schema:affiliation https://www.grid.ac/institutes/grid.412708.8
    115 schema:familyName Inuzuka
    116 schema:givenName Ryo
    117 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0754703647.73
    118 rdf:type schema:Person
    119 sg:pub.10.1038/ejhg.2012.206 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032486577
    120 https://doi.org/10.1038/ejhg.2012.206
    121 rdf:type schema:CreativeWork
    122 sg:pub.10.1038/ng.2007.6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027803069
    123 https://doi.org/10.1038/ng.2007.6
    124 rdf:type schema:CreativeWork
    125 sg:pub.10.1038/ng1721 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036842259
    126 https://doi.org/10.1038/ng1721
    127 rdf:type schema:CreativeWork
    128 https://doi.org/10.1016/j.ijcard.2011.08.079 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029316395
    129 rdf:type schema:CreativeWork
    130 https://doi.org/10.1016/j.ijcard.2015.05.178 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052485978
    131 rdf:type schema:CreativeWork
    132 https://doi.org/10.1016/j.mcp.2012.10.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037322916
    133 rdf:type schema:CreativeWork
    134 https://doi.org/10.1093/hmg/ddm201 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002149671
    135 rdf:type schema:CreativeWork
    136 https://doi.org/10.1097/hco.0000000000000023 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035559914
    137 rdf:type schema:CreativeWork
    138 https://doi.org/10.1126/science.252.5009.1162 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062542077
    139 rdf:type schema:CreativeWork
    140 https://www.grid.ac/institutes/grid.412708.8 schema:alternateName University of Tokyo Hospital
    141 schema:name Department of Cardiovascular Medicine, The University of Tokyo Hospital, Tokyo, Japan
    142 Department of Cardiovascular Surgery, The University of Tokyo Hospital, Tokyo, Japan
    143 Department of Orthopedic Surgery, The University of Tokyo Hospital, Tokyo, Japan
    144 Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan
    145 Department of Translational Research for Healthcare and Clinical Science, The University of Tokyo Hospital, Tokyo, Japan
    146 rdf:type schema:Organization
     




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


    ...