Familial STAG2 germline mutation defines a new human cohesinopathy View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-12

AUTHORS

Fernanda C. Soardi, Alice Machado-Silva, Natália D. Linhares, Ge Zheng, Qianhui Qu, Heloísa B. Pena, Thaís M. M. Martins, Helaine G. S. Vieira, Núbia B. Pereira, Raquel C. Melo-Minardi, Carolina C. Gomes, Ricardo S. Gomez, Dawidson A. Gomes, Douglas E. V. Pires, David B. Ascher, Hongtao Yu, Sérgio D. J. Pena

ABSTRACT

We characterize a novel human cohesinopathy originated from a familial germline mutation of the gene encoding the cohesin subunit STAG2, which we propose to call STAG2-related X-linked Intellectual Deficiency. Five individuals carry a STAG2 p.Ser327Asn (c.980 G > A) variant that perfectly cosegregates with a phenotype of syndromic mental retardation in a characteristic X-linked recessive pattern. Although patient-derived cells did not show overt sister-chromatid cohesion defects, they exhibited altered cell cycle profiles and gene expression patterns that were consistent with cohesin deficiency. The protein level of STAG2 in patient cells was normal. Interestingly, STAG2 S327 is located at a conserved site crucial for binding to SCC1 and cohesin regulators. When expressed in human cells, the STAG2 p.Ser327Asn mutant is defective in binding to SCC1 and other cohesin subunits and regulators. Thus, decreased amount of intact cohesin likely underlies the phenotypes of STAG2-SXLID. Intriguingly, recombinant STAG2 p.Ser327Asn binds normally to SCC1, WAPL, and SGO1 in vitro, suggesting the existence of unknown in vivo mechanisms that regulate the interaction between STAG2 and SCC1. More... »

PAGES

7

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41525-017-0009-4

DOI

http://dx.doi.org/10.1038/s41525-017-0009-4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1084130031

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29263825


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/2008/0601", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biochemistry and Cell Biology", 
        "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": "Universidade Federal de Minas Gerais", 
          "id": "https://www.grid.ac/institutes/grid.8430.f", 
          "name": [
            "GENE\u2014N\u00facleo de Gen\u00e9tica M\u00e9dica, Belo Horizonte, MG, Brazil", 
            "Departamento de Bioqu\u00edmica e Imunologia, Instituto de Ci\u00eancias Biol\u00f3gicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil", 
            "Faculdade de Medicina, Laborat\u00f3rio de Gen\u00f4mica Cl\u00ednica, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Soardi", 
        "givenName": "Fernanda C.", 
        "id": "sg:person.01253526033.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01253526033.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "GENE\u2014N\u00facleo de Gen\u00e9tica M\u00e9dica, Belo Horizonte, MG, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Machado-Silva", 
        "givenName": "Alice", 
        "id": "sg:person.01232547753.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01232547753.32"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Universidade Federal de Minas Gerais", 
          "id": "https://www.grid.ac/institutes/grid.8430.f", 
          "name": [
            "Departamento de Bioqu\u00edmica e Imunologia, Instituto de Ci\u00eancias Biol\u00f3gicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil", 
            "Faculdade de Medicina, Laborat\u00f3rio de Gen\u00f4mica Cl\u00ednica, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Linhares", 
        "givenName": "Nat\u00e1lia D.", 
        "id": "sg:person.01325117036.45", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325117036.45"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "The University of Texas Southwestern Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.267313.2", 
          "name": [
            "Department of Pharmacology, Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zheng", 
        "givenName": "Ge", 
        "id": "sg:person.0753513774.56", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0753513774.56"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "The University of Texas Southwestern Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.267313.2", 
          "name": [
            "Department of Pharmacology, Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Qu", 
        "givenName": "Qianhui", 
        "id": "sg:person.0602134430.30", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602134430.30"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "GENE\u2014N\u00facleo de Gen\u00e9tica M\u00e9dica, Belo Horizonte, MG, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pena", 
        "givenName": "Helo\u00edsa B.", 
        "id": "sg:person.0736527032.16", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0736527032.16"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Universidade Federal de Minas Gerais", 
          "id": "https://www.grid.ac/institutes/grid.8430.f", 
          "name": [
            "Departamento de Bioqu\u00edmica e Imunologia, Instituto de Ci\u00eancias Biol\u00f3gicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Martins", 
        "givenName": "Tha\u00eds M. M.", 
        "id": "sg:person.0635163676.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0635163676.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Universidade Federal de Minas Gerais", 
          "id": "https://www.grid.ac/institutes/grid.8430.f", 
          "name": [
            "Departamento de Bioqu\u00edmica e Imunologia, Instituto de Ci\u00eancias Biol\u00f3gicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Vieira", 
        "givenName": "Helaine G. S.", 
        "id": "sg:person.01335165564.10", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01335165564.10"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Universidade Federal de Minas Gerais", 
          "id": "https://www.grid.ac/institutes/grid.8430.f", 
          "name": [
            "Departamento de Patologia Geral, Instituto de Ci\u00eancias Biol\u00f3gicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pereira", 
        "givenName": "N\u00fabia B.", 
        "id": "sg:person.01124074763.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01124074763.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Universidade Federal de Minas Gerais", 
          "id": "https://www.grid.ac/institutes/grid.8430.f", 
          "name": [
            "Departamento de Ci\u00eancia da Computa\u00e7\u00e3o, Instituto de Ci\u00eancias Exatas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Melo-Minardi", 
        "givenName": "Raquel C.", 
        "id": "sg:person.01130324062.17", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01130324062.17"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Universidade Federal de Minas Gerais", 
          "id": "https://www.grid.ac/institutes/grid.8430.f", 
          "name": [
            "Departamento de Patologia Geral, Instituto de Ci\u00eancias Biol\u00f3gicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gomes", 
        "givenName": "Carolina C.", 
        "id": "sg:person.01161743033.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01161743033.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Universidade Federal de Minas Gerais", 
          "id": "https://www.grid.ac/institutes/grid.8430.f", 
          "name": [
            "Departamento de Cl\u00ednica, Patologia e Cirurgia Odontol\u00f3gicas, Faculdade de Odontologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gomez", 
        "givenName": "Ricardo S.", 
        "id": "sg:person.01024465545.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01024465545.24"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Universidade Federal de Minas Gerais", 
          "id": "https://www.grid.ac/institutes/grid.8430.f", 
          "name": [
            "Departamento de Bioqu\u00edmica e Imunologia, Instituto de Ci\u00eancias Biol\u00f3gicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gomes", 
        "givenName": "Dawidson A.", 
        "id": "sg:person.01237443114.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237443114.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Oswaldo Cruz Foundation", 
          "id": "https://www.grid.ac/institutes/grid.418068.3", 
          "name": [
            "Centro de Pesquisas Ren\u00e9 Rachou, Funda\u00e7\u00e3o Oswaldo Cruz, Belo Horizonte, MG, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pires", 
        "givenName": "Douglas E. V.", 
        "id": "sg:person.014366511554.99", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014366511554.99"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Melbourne", 
          "id": "https://www.grid.ac/institutes/grid.1008.9", 
          "name": [
            "Centro de Pesquisas Ren\u00e9 Rachou, Funda\u00e7\u00e3o Oswaldo Cruz, Belo Horizonte, MG, Brazil", 
            "Department of Biochemistry, University of Cambridge, Cambridge, UK", 
            "Department of Biochemistry, University of Melbourne, Victoria, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ascher", 
        "givenName": "David B.", 
        "id": "sg:person.01165376307.20", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165376307.20"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "The University of Texas Southwestern Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.267313.2", 
          "name": [
            "Department of Pharmacology, Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yu", 
        "givenName": "Hongtao", 
        "id": "sg:person.07650774340.45", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07650774340.45"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Universidade Federal de Minas Gerais", 
          "id": "https://www.grid.ac/institutes/grid.8430.f", 
          "name": [
            "GENE\u2014N\u00facleo de Gen\u00e9tica M\u00e9dica, Belo Horizonte, MG, Brazil", 
            "Departamento de Bioqu\u00edmica e Imunologia, Instituto de Ci\u00eancias Biol\u00f3gicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil", 
            "Faculdade de Medicina, Laborat\u00f3rio de Gen\u00f4mica Cl\u00ednica, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pena", 
        "givenName": "S\u00e9rgio D. J.", 
        "id": "sg:person.013544307052.92", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013544307052.92"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/j.molcel.2008.06.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001300280"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2015.60", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001682133", 
          "https://doi.org/10.1038/ejhg.2015.60"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1158/2159-8290.cd-14-1096", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004189975"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/srep29575", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004269651", 
          "https://doi.org/10.1038/srep29575"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.1505323112", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004482523"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.5483/bmbrep.2014.47.6.092", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007779597"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gku966", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008378617"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gad.1724308", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009643202"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cub.2015.05.017", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011090744"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1242/dev.090605", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013763162"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1157774", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015905780"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1146/annurev.cellbio.24.110707.175350", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017762510"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cub.2006.10.061", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017920106"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2013.02.029", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018538364"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/prot.21248", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019856990"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1084/jem.20140520", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020196812"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gkw390", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021543502"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2015.30", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022229472", 
          "https://doi.org/10.1038/gim.2015.30"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gku411", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023677786"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gad.1844309", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023694717"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.bbcan.2016.05.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023892525"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1083/jcb.200912129", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025877385"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1363", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026543582", 
          "https://doi.org/10.1038/ng1363"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1363", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026543582", 
          "https://doi.org/10.1038/ng1363"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/8904_2014_380", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029274773", 
          "https://doi.org/10.1007/8904_2014_380"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s12916-016-0575-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029320556", 
          "https://doi.org/10.1186/s12916-016-0575-9"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/jmbi.1993.1626", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030443070"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gkw458", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031475366"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.molcel.2009.02.028", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036146835"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nsmb.2880", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036178026", 
          "https://doi.org/10.1038/nsmb.2880"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1471-2105-16-s8-a2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036682870", 
          "https://doi.org/10.1186/1471-2105-16-s8-a2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2006.09.040", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036733718"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/srep19848", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037074439", 
          "https://doi.org/10.1038/srep19848"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2010.10.031", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040594378"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.22430", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041991668"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3113", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042448668", 
          "https://doi.org/10.1038/ng.3113"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2016.04.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044783759"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cub.2006.03.049", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044838259"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/2045-3701-2-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045409992", 
          "https://doi.org/10.1186/2045-3701-2-5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.molcel.2016.02.033", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048760229"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.molcel.2016.02.033", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048760229"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.pbiomolbio.2015.01.009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049449259"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.devcel.2014.09.010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049785658"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/btt691", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049922644"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/btt691", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049922644"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1146/annurev-genet-102108-134233", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051176398"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ncb2637", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052030362", 
          "https://doi.org/10.1038/ncb2637"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature12867", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052123326", 
          "https://doi.org/10.1038/nature12867"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddv414", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059645692"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1157880", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062457727"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2017-12", 
    "datePublishedReg": "2017-12-01", 
    "description": "We characterize a novel human cohesinopathy originated from a familial germline mutation of the gene encoding the cohesin subunit STAG2, which we propose to call STAG2-related X-linked Intellectual Deficiency. Five individuals carry a STAG2 p.Ser327Asn (c.980\u2009G\u2009>\u2009A) variant that perfectly cosegregates with a phenotype of syndromic mental retardation in a characteristic X-linked recessive pattern. Although patient-derived cells did not show overt sister-chromatid cohesion defects, they exhibited altered cell cycle profiles and gene expression patterns that were consistent with cohesin deficiency. The protein level of STAG2 in patient cells was normal. Interestingly, STAG2 S327 is located at a conserved site crucial for binding to SCC1 and cohesin regulators. When expressed in human cells, the STAG2 p.Ser327Asn mutant is defective in binding to SCC1 and other cohesin subunits and regulators. Thus, decreased amount of intact cohesin likely underlies the phenotypes of STAG2-SXLID. Intriguingly, recombinant STAG2 p.Ser327Asn binds normally to SCC1, WAPL, and SGO1 in vitro, suggesting the existence of unknown in vivo mechanisms that regulate the interaction between STAG2 and SCC1.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/s41525-017-0009-4", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.3956778", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.6725338", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.7051255", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.7051351", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1053748", 
        "issn": [
          "2056-7944"
        ], 
        "name": "npj Genomic Medicine", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "2"
      }
    ], 
    "name": "Familial STAG2 germline mutation defines a new human cohesinopathy", 
    "pagination": "7", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "60343f4115659bad98ded8228407a7d5d7a106209708bd96571466deeaec7bd4"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "29263825"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101685193"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/s41525-017-0009-4"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1084130031"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/s41525-017-0009-4", 
      "https://app.dimensions.ai/details/publication/pub.1084130031"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T23:20", 
    "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_8693_00000492.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/s41525-017-0009-4"
  }
]
 

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/s41525-017-0009-4'

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/s41525-017-0009-4'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41525-017-0009-4'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41525-017-0009-4'


 

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

362 TRIPLES      21 PREDICATES      76 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/s41525-017-0009-4 schema:about anzsrc-for:06
2 anzsrc-for:0601
3 schema:author Ne6721b82561f4bccb1a6d1dddd56307f
4 schema:citation sg:pub.10.1007/8904_2014_380
5 sg:pub.10.1038/ejhg.2015.60
6 sg:pub.10.1038/gim.2015.30
7 sg:pub.10.1038/nature12867
8 sg:pub.10.1038/ncb2637
9 sg:pub.10.1038/ng.3113
10 sg:pub.10.1038/ng1363
11 sg:pub.10.1038/nsmb.2880
12 sg:pub.10.1038/srep19848
13 sg:pub.10.1038/srep29575
14 sg:pub.10.1186/1471-2105-16-s8-a2
15 sg:pub.10.1186/2045-3701-2-5
16 sg:pub.10.1186/s12916-016-0575-9
17 https://doi.org/10.1002/humu.22430
18 https://doi.org/10.1002/prot.21248
19 https://doi.org/10.1006/jmbi.1993.1626
20 https://doi.org/10.1016/j.ajhg.2016.04.003
21 https://doi.org/10.1016/j.bbcan.2016.05.002
22 https://doi.org/10.1016/j.cell.2006.09.040
23 https://doi.org/10.1016/j.cell.2010.10.031
24 https://doi.org/10.1016/j.cell.2013.02.029
25 https://doi.org/10.1016/j.cub.2006.03.049
26 https://doi.org/10.1016/j.cub.2006.10.061
27 https://doi.org/10.1016/j.cub.2015.05.017
28 https://doi.org/10.1016/j.devcel.2014.09.010
29 https://doi.org/10.1016/j.molcel.2008.06.006
30 https://doi.org/10.1016/j.molcel.2009.02.028
31 https://doi.org/10.1016/j.molcel.2016.02.033
32 https://doi.org/10.1016/j.pbiomolbio.2015.01.009
33 https://doi.org/10.1073/pnas.1505323112
34 https://doi.org/10.1083/jcb.200912129
35 https://doi.org/10.1084/jem.20140520
36 https://doi.org/10.1093/bioinformatics/btt691
37 https://doi.org/10.1093/hmg/ddv414
38 https://doi.org/10.1093/nar/gku411
39 https://doi.org/10.1093/nar/gku966
40 https://doi.org/10.1093/nar/gkw390
41 https://doi.org/10.1093/nar/gkw458
42 https://doi.org/10.1101/gad.1724308
43 https://doi.org/10.1101/gad.1844309
44 https://doi.org/10.1126/science.1157774
45 https://doi.org/10.1126/science.1157880
46 https://doi.org/10.1146/annurev-genet-102108-134233
47 https://doi.org/10.1146/annurev.cellbio.24.110707.175350
48 https://doi.org/10.1158/2159-8290.cd-14-1096
49 https://doi.org/10.1242/dev.090605
50 https://doi.org/10.5483/bmbrep.2014.47.6.092
51 schema:datePublished 2017-12
52 schema:datePublishedReg 2017-12-01
53 schema:description We characterize a novel human cohesinopathy originated from a familial germline mutation of the gene encoding the cohesin subunit STAG2, which we propose to call <i>STAG2</i>-related X-linked Intellectual Deficiency. Five individuals carry a <i>STAG2</i> p.Ser327Asn (c.980 G &gt; A) variant that perfectly cosegregates with a phenotype of syndromic mental retardation in a characteristic X-linked recessive pattern. Although patient-derived cells did not show overt sister-chromatid cohesion defects, they exhibited altered cell cycle profiles and gene expression patterns that were consistent with cohesin deficiency. The protein level of STAG2 in patient cells was normal. Interestingly, STAG2 S327 is located at a conserved site crucial for binding to SCC1 and cohesin regulators. When expressed in human cells, the STAG2 p.Ser327Asn mutant is defective in binding to SCC1 and other cohesin subunits and regulators. Thus, decreased amount of intact cohesin likely underlies the phenotypes of <i>STAG2</i>-SXLID. Intriguingly, recombinant STAG2 p.Ser327Asn binds normally to SCC1, WAPL, and SGO1 in vitro, suggesting the existence of unknown in vivo mechanisms that regulate the interaction between STAG2 and SCC1.
54 schema:genre research_article
55 schema:inLanguage en
56 schema:isAccessibleForFree true
57 schema:isPartOf N4ce056cbd82442e693b5476442bb5a9c
58 N8c80b009184e41c7949a89ff3b4e8124
59 sg:journal.1053748
60 schema:name Familial STAG2 germline mutation defines a new human cohesinopathy
61 schema:pagination 7
62 schema:productId N7c2b94a76dbe4bce8e2b99aade46a2b8
63 N7ca37be646fb4769a1dcf86bb4f6c347
64 N85220078d8cc47d0b3de1b0bd1ada36a
65 N87bdf2f432554ad9aaa96891c4340a62
66 N89ec13973b754e4da64db2b6b22f5af1
67 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084130031
68 https://doi.org/10.1038/s41525-017-0009-4
69 schema:sdDatePublished 2019-04-10T23:20
70 schema:sdLicense https://scigraph.springernature.com/explorer/license/
71 schema:sdPublisher N9d8c9cac2b8e43cfae285936751c345e
72 schema:url https://www.nature.com/articles/s41525-017-0009-4
73 sgo:license sg:explorer/license/
74 sgo:sdDataset articles
75 rdf:type schema:ScholarlyArticle
76 N073d77ef5e1945858bd37a7dd086cd12 schema:name GENE—Núcleo de Genética Médica, Belo Horizonte, MG, Brazil
77 rdf:type schema:Organization
78 N0790744deada495da7b455ed4735162a rdf:first sg:person.01232547753.32
79 rdf:rest N2f0b6f9e65f04848a5ef1b0903180f99
80 N15b26dcf14df4e1bb8f551d70f017dc4 rdf:first sg:person.013544307052.92
81 rdf:rest rdf:nil
82 N2c6e13b93317465a949c59aab7cb5189 rdf:first sg:person.0753513774.56
83 rdf:rest Neb7ea8cbe83a4981ae0f944018e6799d
84 N2cda847fdf144eb08689d5bda8a4f01e rdf:first sg:person.01024465545.24
85 rdf:rest N740d882b6ec14e82a4c2de38dd5b12b4
86 N2f0b6f9e65f04848a5ef1b0903180f99 rdf:first sg:person.01325117036.45
87 rdf:rest N2c6e13b93317465a949c59aab7cb5189
88 N4ce056cbd82442e693b5476442bb5a9c schema:issueNumber 1
89 rdf:type schema:PublicationIssue
90 N4f391177df45496c8e372b33c44c1737 rdf:first sg:person.01335165564.10
91 rdf:rest Nae86b3aa2f4e4653b6b0d2d8188bb346
92 N740d882b6ec14e82a4c2de38dd5b12b4 rdf:first sg:person.01237443114.48
93 rdf:rest N7dc656ea490a41f7b0ba29c647c71745
94 N752f4de1b5d1485faa4673bfcb39e371 rdf:first sg:person.07650774340.45
95 rdf:rest N15b26dcf14df4e1bb8f551d70f017dc4
96 N7c2b94a76dbe4bce8e2b99aade46a2b8 schema:name pubmed_id
97 schema:value 29263825
98 rdf:type schema:PropertyValue
99 N7ca37be646fb4769a1dcf86bb4f6c347 schema:name dimensions_id
100 schema:value pub.1084130031
101 rdf:type schema:PropertyValue
102 N7dc656ea490a41f7b0ba29c647c71745 rdf:first sg:person.014366511554.99
103 rdf:rest Ncb4b3068d7ca475891c400d277526e0a
104 N85220078d8cc47d0b3de1b0bd1ada36a schema:name readcube_id
105 schema:value 60343f4115659bad98ded8228407a7d5d7a106209708bd96571466deeaec7bd4
106 rdf:type schema:PropertyValue
107 N87bdf2f432554ad9aaa96891c4340a62 schema:name doi
108 schema:value 10.1038/s41525-017-0009-4
109 rdf:type schema:PropertyValue
110 N89ec13973b754e4da64db2b6b22f5af1 schema:name nlm_unique_id
111 schema:value 101685193
112 rdf:type schema:PropertyValue
113 N8c80b009184e41c7949a89ff3b4e8124 schema:volumeNumber 2
114 rdf:type schema:PublicationVolume
115 N9149e90dd1c14af69e567437c13835d9 schema:name GENE—Núcleo de Genética Médica, Belo Horizonte, MG, Brazil
116 rdf:type schema:Organization
117 N9d8c9cac2b8e43cfae285936751c345e schema:name Springer Nature - SN SciGraph project
118 rdf:type schema:Organization
119 Nae86b3aa2f4e4653b6b0d2d8188bb346 rdf:first sg:person.01124074763.13
120 rdf:rest Nfc9ee71ef96b4d838a5c2ec78a33de42
121 Nb44213446cf041bba74a742a67f1f671 rdf:first sg:person.01161743033.19
122 rdf:rest N2cda847fdf144eb08689d5bda8a4f01e
123 Nbb2abb5a7b754f13a1e544a9f2083a87 rdf:first sg:person.0736527032.16
124 rdf:rest Nfefc27df12674c7cbe0daa56aa3bf6d1
125 Ncb4b3068d7ca475891c400d277526e0a rdf:first sg:person.01165376307.20
126 rdf:rest N752f4de1b5d1485faa4673bfcb39e371
127 Ne6721b82561f4bccb1a6d1dddd56307f rdf:first sg:person.01253526033.06
128 rdf:rest N0790744deada495da7b455ed4735162a
129 Neb7ea8cbe83a4981ae0f944018e6799d rdf:first sg:person.0602134430.30
130 rdf:rest Nbb2abb5a7b754f13a1e544a9f2083a87
131 Nfc9ee71ef96b4d838a5c2ec78a33de42 rdf:first sg:person.01130324062.17
132 rdf:rest Nb44213446cf041bba74a742a67f1f671
133 Nfefc27df12674c7cbe0daa56aa3bf6d1 rdf:first sg:person.0635163676.58
134 rdf:rest N4f391177df45496c8e372b33c44c1737
135 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
136 schema:name Biological Sciences
137 rdf:type schema:DefinedTerm
138 anzsrc-for:0601 schema:inDefinedTermSet anzsrc-for:
139 schema:name Biochemistry and Cell Biology
140 rdf:type schema:DefinedTerm
141 sg:grant.3956778 http://pending.schema.org/fundedItem sg:pub.10.1038/s41525-017-0009-4
142 rdf:type schema:MonetaryGrant
143 sg:grant.6725338 http://pending.schema.org/fundedItem sg:pub.10.1038/s41525-017-0009-4
144 rdf:type schema:MonetaryGrant
145 sg:grant.7051255 http://pending.schema.org/fundedItem sg:pub.10.1038/s41525-017-0009-4
146 rdf:type schema:MonetaryGrant
147 sg:grant.7051351 http://pending.schema.org/fundedItem sg:pub.10.1038/s41525-017-0009-4
148 rdf:type schema:MonetaryGrant
149 sg:journal.1053748 schema:issn 2056-7944
150 schema:name npj Genomic Medicine
151 rdf:type schema:Periodical
152 sg:person.01024465545.24 schema:affiliation https://www.grid.ac/institutes/grid.8430.f
153 schema:familyName Gomez
154 schema:givenName Ricardo S.
155 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01024465545.24
156 rdf:type schema:Person
157 sg:person.01124074763.13 schema:affiliation https://www.grid.ac/institutes/grid.8430.f
158 schema:familyName Pereira
159 schema:givenName Núbia B.
160 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01124074763.13
161 rdf:type schema:Person
162 sg:person.01130324062.17 schema:affiliation https://www.grid.ac/institutes/grid.8430.f
163 schema:familyName Melo-Minardi
164 schema:givenName Raquel C.
165 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01130324062.17
166 rdf:type schema:Person
167 sg:person.01161743033.19 schema:affiliation https://www.grid.ac/institutes/grid.8430.f
168 schema:familyName Gomes
169 schema:givenName Carolina C.
170 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01161743033.19
171 rdf:type schema:Person
172 sg:person.01165376307.20 schema:affiliation https://www.grid.ac/institutes/grid.1008.9
173 schema:familyName Ascher
174 schema:givenName David B.
175 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165376307.20
176 rdf:type schema:Person
177 sg:person.01232547753.32 schema:affiliation N073d77ef5e1945858bd37a7dd086cd12
178 schema:familyName Machado-Silva
179 schema:givenName Alice
180 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01232547753.32
181 rdf:type schema:Person
182 sg:person.01237443114.48 schema:affiliation https://www.grid.ac/institutes/grid.8430.f
183 schema:familyName Gomes
184 schema:givenName Dawidson A.
185 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237443114.48
186 rdf:type schema:Person
187 sg:person.01253526033.06 schema:affiliation https://www.grid.ac/institutes/grid.8430.f
188 schema:familyName Soardi
189 schema:givenName Fernanda C.
190 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01253526033.06
191 rdf:type schema:Person
192 sg:person.01325117036.45 schema:affiliation https://www.grid.ac/institutes/grid.8430.f
193 schema:familyName Linhares
194 schema:givenName Natália D.
195 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325117036.45
196 rdf:type schema:Person
197 sg:person.01335165564.10 schema:affiliation https://www.grid.ac/institutes/grid.8430.f
198 schema:familyName Vieira
199 schema:givenName Helaine G. S.
200 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01335165564.10
201 rdf:type schema:Person
202 sg:person.013544307052.92 schema:affiliation https://www.grid.ac/institutes/grid.8430.f
203 schema:familyName Pena
204 schema:givenName Sérgio D. J.
205 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013544307052.92
206 rdf:type schema:Person
207 sg:person.014366511554.99 schema:affiliation https://www.grid.ac/institutes/grid.418068.3
208 schema:familyName Pires
209 schema:givenName Douglas E. V.
210 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014366511554.99
211 rdf:type schema:Person
212 sg:person.0602134430.30 schema:affiliation https://www.grid.ac/institutes/grid.267313.2
213 schema:familyName Qu
214 schema:givenName Qianhui
215 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602134430.30
216 rdf:type schema:Person
217 sg:person.0635163676.58 schema:affiliation https://www.grid.ac/institutes/grid.8430.f
218 schema:familyName Martins
219 schema:givenName Thaís M. M.
220 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0635163676.58
221 rdf:type schema:Person
222 sg:person.0736527032.16 schema:affiliation N9149e90dd1c14af69e567437c13835d9
223 schema:familyName Pena
224 schema:givenName Heloísa B.
225 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0736527032.16
226 rdf:type schema:Person
227 sg:person.0753513774.56 schema:affiliation https://www.grid.ac/institutes/grid.267313.2
228 schema:familyName Zheng
229 schema:givenName Ge
230 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0753513774.56
231 rdf:type schema:Person
232 sg:person.07650774340.45 schema:affiliation https://www.grid.ac/institutes/grid.267313.2
233 schema:familyName Yu
234 schema:givenName Hongtao
235 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07650774340.45
236 rdf:type schema:Person
237 sg:pub.10.1007/8904_2014_380 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029274773
238 https://doi.org/10.1007/8904_2014_380
239 rdf:type schema:CreativeWork
240 sg:pub.10.1038/ejhg.2015.60 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001682133
241 https://doi.org/10.1038/ejhg.2015.60
242 rdf:type schema:CreativeWork
243 sg:pub.10.1038/gim.2015.30 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022229472
244 https://doi.org/10.1038/gim.2015.30
245 rdf:type schema:CreativeWork
246 sg:pub.10.1038/nature12867 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052123326
247 https://doi.org/10.1038/nature12867
248 rdf:type schema:CreativeWork
249 sg:pub.10.1038/ncb2637 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052030362
250 https://doi.org/10.1038/ncb2637
251 rdf:type schema:CreativeWork
252 sg:pub.10.1038/ng.3113 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042448668
253 https://doi.org/10.1038/ng.3113
254 rdf:type schema:CreativeWork
255 sg:pub.10.1038/ng1363 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026543582
256 https://doi.org/10.1038/ng1363
257 rdf:type schema:CreativeWork
258 sg:pub.10.1038/nsmb.2880 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036178026
259 https://doi.org/10.1038/nsmb.2880
260 rdf:type schema:CreativeWork
261 sg:pub.10.1038/srep19848 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037074439
262 https://doi.org/10.1038/srep19848
263 rdf:type schema:CreativeWork
264 sg:pub.10.1038/srep29575 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004269651
265 https://doi.org/10.1038/srep29575
266 rdf:type schema:CreativeWork
267 sg:pub.10.1186/1471-2105-16-s8-a2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036682870
268 https://doi.org/10.1186/1471-2105-16-s8-a2
269 rdf:type schema:CreativeWork
270 sg:pub.10.1186/2045-3701-2-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045409992
271 https://doi.org/10.1186/2045-3701-2-5
272 rdf:type schema:CreativeWork
273 sg:pub.10.1186/s12916-016-0575-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029320556
274 https://doi.org/10.1186/s12916-016-0575-9
275 rdf:type schema:CreativeWork
276 https://doi.org/10.1002/humu.22430 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041991668
277 rdf:type schema:CreativeWork
278 https://doi.org/10.1002/prot.21248 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019856990
279 rdf:type schema:CreativeWork
280 https://doi.org/10.1006/jmbi.1993.1626 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030443070
281 rdf:type schema:CreativeWork
282 https://doi.org/10.1016/j.ajhg.2016.04.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044783759
283 rdf:type schema:CreativeWork
284 https://doi.org/10.1016/j.bbcan.2016.05.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023892525
285 rdf:type schema:CreativeWork
286 https://doi.org/10.1016/j.cell.2006.09.040 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036733718
287 rdf:type schema:CreativeWork
288 https://doi.org/10.1016/j.cell.2010.10.031 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040594378
289 rdf:type schema:CreativeWork
290 https://doi.org/10.1016/j.cell.2013.02.029 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018538364
291 rdf:type schema:CreativeWork
292 https://doi.org/10.1016/j.cub.2006.03.049 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044838259
293 rdf:type schema:CreativeWork
294 https://doi.org/10.1016/j.cub.2006.10.061 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017920106
295 rdf:type schema:CreativeWork
296 https://doi.org/10.1016/j.cub.2015.05.017 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011090744
297 rdf:type schema:CreativeWork
298 https://doi.org/10.1016/j.devcel.2014.09.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049785658
299 rdf:type schema:CreativeWork
300 https://doi.org/10.1016/j.molcel.2008.06.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001300280
301 rdf:type schema:CreativeWork
302 https://doi.org/10.1016/j.molcel.2009.02.028 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036146835
303 rdf:type schema:CreativeWork
304 https://doi.org/10.1016/j.molcel.2016.02.033 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048760229
305 rdf:type schema:CreativeWork
306 https://doi.org/10.1016/j.pbiomolbio.2015.01.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049449259
307 rdf:type schema:CreativeWork
308 https://doi.org/10.1073/pnas.1505323112 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004482523
309 rdf:type schema:CreativeWork
310 https://doi.org/10.1083/jcb.200912129 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025877385
311 rdf:type schema:CreativeWork
312 https://doi.org/10.1084/jem.20140520 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020196812
313 rdf:type schema:CreativeWork
314 https://doi.org/10.1093/bioinformatics/btt691 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049922644
315 rdf:type schema:CreativeWork
316 https://doi.org/10.1093/hmg/ddv414 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059645692
317 rdf:type schema:CreativeWork
318 https://doi.org/10.1093/nar/gku411 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023677786
319 rdf:type schema:CreativeWork
320 https://doi.org/10.1093/nar/gku966 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008378617
321 rdf:type schema:CreativeWork
322 https://doi.org/10.1093/nar/gkw390 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021543502
323 rdf:type schema:CreativeWork
324 https://doi.org/10.1093/nar/gkw458 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031475366
325 rdf:type schema:CreativeWork
326 https://doi.org/10.1101/gad.1724308 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009643202
327 rdf:type schema:CreativeWork
328 https://doi.org/10.1101/gad.1844309 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023694717
329 rdf:type schema:CreativeWork
330 https://doi.org/10.1126/science.1157774 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015905780
331 rdf:type schema:CreativeWork
332 https://doi.org/10.1126/science.1157880 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062457727
333 rdf:type schema:CreativeWork
334 https://doi.org/10.1146/annurev-genet-102108-134233 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051176398
335 rdf:type schema:CreativeWork
336 https://doi.org/10.1146/annurev.cellbio.24.110707.175350 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017762510
337 rdf:type schema:CreativeWork
338 https://doi.org/10.1158/2159-8290.cd-14-1096 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004189975
339 rdf:type schema:CreativeWork
340 https://doi.org/10.1242/dev.090605 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013763162
341 rdf:type schema:CreativeWork
342 https://doi.org/10.5483/bmbrep.2014.47.6.092 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007779597
343 rdf:type schema:CreativeWork
344 https://www.grid.ac/institutes/grid.1008.9 schema:alternateName University of Melbourne
345 schema:name Centro de Pesquisas René Rachou, Fundação Oswaldo Cruz, Belo Horizonte, MG, Brazil
346 Department of Biochemistry, University of Cambridge, Cambridge, UK
347 Department of Biochemistry, University of Melbourne, Victoria, Australia
348 rdf:type schema:Organization
349 https://www.grid.ac/institutes/grid.267313.2 schema:alternateName The University of Texas Southwestern Medical Center
350 schema:name Department of Pharmacology, Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA
351 rdf:type schema:Organization
352 https://www.grid.ac/institutes/grid.418068.3 schema:alternateName Oswaldo Cruz Foundation
353 schema:name Centro de Pesquisas René Rachou, Fundação Oswaldo Cruz, Belo Horizonte, MG, Brazil
354 rdf:type schema:Organization
355 https://www.grid.ac/institutes/grid.8430.f schema:alternateName Universidade Federal de Minas Gerais
356 schema:name Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil
357 Departamento de Ciência da Computação, Instituto de Ciências Exatas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil
358 Departamento de Clínica, Patologia e Cirurgia Odontológicas, Faculdade de Odontologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil
359 Departamento de Patologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil
360 Faculdade de Medicina, Laboratório de Genômica Clínica, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil
361 GENE—Núcleo de Genética Médica, Belo Horizonte, MG, Brazil
362 rdf:type schema:Organization
 




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


...