Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2006-04

AUTHORS

Colin N A Palmer, Alan D Irvine, Ana Terron-Kwiatkowski, Yiwei Zhao, Haihui Liao, Simon P Lee, David R Goudie, Aileen Sandilands, Linda E Campbell, Frances J D Smith, Gráinne M O'Regan, Rosemarie M Watson, Jo E Cecil, Sherri J Bale, John G Compton, John J DiGiovanna, Philip Fleckman, Sue Lewis-Jones, Gehan Arseculeratne, Ann Sergeant, Colin S Munro, Brahim El Houate, Ken McElreavey, Liselotte B Halkjaer, Hans Bisgaard, Somnath Mukhopadhyay, W H Irwin McLean

ABSTRACT

Atopic disease, including atopic dermatitis (eczema), allergy and asthma, has increased in frequency in recent decades and now affects approximately 20% of the population in the developed world. Twin and family studies have shown that predisposition to atopic disease is highly heritable. Although most genetic studies have focused on immunological mechanisms, a primary epithelial barrier defect has been anticipated. Filaggrin is a key protein that facilitates terminal differentiation of the epidermis and formation of the skin barrier. Here we show that two independent loss-of-function genetic variants (R510X and 2282del4) in the gene encoding filaggrin (FLG) are very strong predisposing factors for atopic dermatitis. These variants are carried by approximately 9% of people of European origin. These variants also show highly significant association with asthma occurring in the context of atopic dermatitis. This work establishes a key role for impaired skin barrier function in the development of atopic disease. More... »

PAGES

441-446

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1767

DOI

http://dx.doi.org/10.1038/ng1767

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1037606618

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16550169


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/2008/1107", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Immunology", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Alleles", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Asthma", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cohort Studies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Dermatitis, Atopic", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Predisposition to Disease", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Intermediate Filament Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Skin Physiological Phenomena", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "name": [
            "Population Pharmacogenetics Group, Biomedical Research Centre, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Palmer", 
        "givenName": "Colin N A", 
        "id": "sg:person.01016372227.74", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01016372227.74"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Our Lady's Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.417322.1", 
          "name": [
            "Department of Paediatric Dermatology, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Irvine", 
        "givenName": "Alan D", 
        "id": "sg:person.010621045547.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010621045547.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Terron-Kwiatkowski", 
        "givenName": "Ana", 
        "id": "sg:person.0667236004.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0667236004.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zhao", 
        "givenName": "Yiwei", 
        "id": "sg:person.0747244177.75", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747244177.75"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Liao", 
        "givenName": "Haihui", 
        "id": "sg:person.01063472577.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01063472577.24"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Population Pharmacogenetics Group, Biomedical Research Centre, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lee", 
        "givenName": "Simon P", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ninewells Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416266.1", 
          "name": [
            "Clinical Genetics, Tayside University Hospitals NHS Trust, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Goudie", 
        "givenName": "David R", 
        "id": "sg:person.01026627674.97", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026627674.97"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sandilands", 
        "givenName": "Aileen", 
        "id": "sg:person.01267754172.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01267754172.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Campbell", 
        "givenName": "Linda E", 
        "id": "sg:person.01224360635.70", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01224360635.70"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Smith", 
        "givenName": "Frances J D", 
        "id": "sg:person.011612133312.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011612133312.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Our Lady's Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.417322.1", 
          "name": [
            "Department of Paediatric Dermatology, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland."
          ], 
          "type": "Organization"
        }, 
        "familyName": "O'Regan", 
        "givenName": "Gr\u00e1inne M", 
        "id": "sg:person.01223715651.47", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01223715651.47"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Our Lady's Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.417322.1", 
          "name": [
            "Department of Paediatric Dermatology, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Watson", 
        "givenName": "Rosemarie M", 
        "id": "sg:person.01340607235.96", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01340607235.96"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of St Andrews", 
          "id": "https://www.grid.ac/institutes/grid.11914.3c", 
          "name": [
            "The Bute Medical School, University of St. Andrews, St. Andrews, Fife, Scotland, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cecil", 
        "givenName": "Jo E", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "OPKO Health (United States)", 
          "id": "https://www.grid.ac/institutes/grid.428467.b", 
          "name": [
            "GeneDx, Gaithersburg, Maryland 20877, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bale", 
        "givenName": "Sherri J", 
        "id": "sg:person.0727325552.70", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0727325552.70"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "OPKO Health (United States)", 
          "id": "https://www.grid.ac/institutes/grid.428467.b", 
          "name": [
            "GeneDx, Gaithersburg, Maryland 20877, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Compton", 
        "givenName": "John G", 
        "id": "sg:person.0771577652.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0771577652.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Institutes of Health", 
          "id": "https://www.grid.ac/institutes/grid.94365.3d", 
          "name": [
            "Division of Dermatopharmacology, Department of Dermatology, Brown Medical School and Rhode Island Hospital, Providence, Rhode Island 02903, USA.", 
            "Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "DiGiovanna", 
        "givenName": "John J", 
        "id": "sg:person.01346765043.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01346765043.51"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Washington", 
          "id": "https://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Division of Dermatology, Department of Medicine, University of Washington, Seattle, Washington 98195, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fleckman", 
        "givenName": "Philip", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ninewells Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416266.1", 
          "name": [
            "Dermatology, Tayside University Hospitals NHS Trust, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lewis-Jones", 
        "givenName": "Sue", 
        "id": "sg:person.01370052143.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01370052143.46"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ninewells Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416266.1", 
          "name": [
            "Dermatology, Tayside University Hospitals NHS Trust, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Arseculeratne", 
        "givenName": "Gehan", 
        "id": "sg:person.01101676571.81", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101676571.81"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "NHS Greater Glasgow and Clyde", 
          "id": "https://www.grid.ac/institutes/grid.413301.4", 
          "name": [
            "Department of Dermatology, South Glasgow University Hospitals NHS Trust, Glasgow G51 4TF, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sergeant", 
        "givenName": "Ann", 
        "id": "sg:person.01347740423.86", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01347740423.86"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "NHS Greater Glasgow and Clyde", 
          "id": "https://www.grid.ac/institutes/grid.413301.4", 
          "name": [
            "Department of Dermatology, South Glasgow University Hospitals NHS Trust, Glasgow G51 4TF, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Munro", 
        "givenName": "Colin S", 
        "id": "sg:person.0743377731.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0743377731.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institut Pasteur", 
          "id": "https://www.grid.ac/institutes/grid.428999.7", 
          "name": [
            "Reproduction, Fertility and Populations, Institut Pasteur, 75724 Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Houate", 
        "givenName": "Brahim El", 
        "id": "sg:person.015667527745.81", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015667527745.81"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institut Pasteur", 
          "id": "https://www.grid.ac/institutes/grid.428999.7", 
          "name": [
            "Reproduction, Fertility and Populations, Institut Pasteur, 75724 Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "McElreavey", 
        "givenName": "Ken", 
        "id": "sg:person.01230331566.93", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230331566.93"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Danish Paediatric Asthma Centre, Copenhagen, University Hospital, DK-2900 Gentofte, Copenhagen, Denmark."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Halkjaer", 
        "givenName": "Liselotte B", 
        "id": "sg:person.0773243023.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773243023.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Danish Paediatric Asthma Centre, Copenhagen, University Hospital, DK-2900 Gentofte, Copenhagen, Denmark."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bisgaard", 
        "givenName": "Hans", 
        "id": "sg:person.0713540153.74", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0713540153.74"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Danish Paediatric Asthma Centre, Copenhagen, University Hospital, DK-2900 Gentofte, Copenhagen, Denmark."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mukhopadhyay", 
        "givenName": "Somnath", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "McLean", 
        "givenName": "W H Irwin", 
        "id": "sg:person.013705635017.95", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013705635017.95"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/nature00878", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000571676", 
          "https://doi.org/10.1038/nature00878"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature00878", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000571676", 
          "https://doi.org/10.1038/nature00878"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/10454411000110040101", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001886730"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/10454411000110040101", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001886730"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1111/j.0022-202x.2004.22621.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002025464", 
          "https://doi.org/10.1111/j.0022-202x.2004.22621.x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1398-9995.2005.00646.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006128464"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1398-9995.2005.00646.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006128464"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0091-679x(04)78028-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009356493"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1034/j.1600-0625.2002.110604.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014171938"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2133.1994.tb08530.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014679220"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1365-2133.2000.03300.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016126777"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/86867", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018492984", 
          "https://doi.org/10.1038/86867"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/86867", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018492984", 
          "https://doi.org/10.1038/86867"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf02505232", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018859083", 
          "https://doi.org/10.1007/bf02505232"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf02505232", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018859083", 
          "https://doi.org/10.1007/bf02505232"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00125-005-1817-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021286254", 
          "https://doi.org/10.1007/s00125-005-1817-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00125-005-1817-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021286254", 
          "https://doi.org/10.1007/s00125-005-1817-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00125-005-1817-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021286254", 
          "https://doi.org/10.1007/s00125-005-1817-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/bmj.1.5493.947", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027610444"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jaci.2003.09.033", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028911901"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrm1619", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031545491", 
          "https://doi.org/10.1038/nrm1619"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrm1619", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031545491", 
          "https://doi.org/10.1038/nrm1619"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1172/jci1647", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032847095"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2133.1994.tb08532.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040076056"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1743", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041094404", 
          "https://doi.org/10.1038/ng1743"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1743", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041094404", 
          "https://doi.org/10.1038/ng1743"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2133.2005.06352.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043386570"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00130832-200210000-00003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043428833"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1398-9995.2004.00526.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044252503"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/35037000", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046012534", 
          "https://doi.org/10.1038/35037000"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/35037000", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046012534", 
          "https://doi.org/10.1038/35037000"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00403-005-0590-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047147671", 
          "https://doi.org/10.1007/s00403-005-0590-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00403-005-0590-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047147671", 
          "https://doi.org/10.1007/s00403-005-0590-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1081-1206(10)61398-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047855057"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1021/bi00492a018", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1055178165"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/000155598441792", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058255315"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074598116", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1075316089", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1080953368", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082900147", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2006-04", 
    "datePublishedReg": "2006-04-01", 
    "description": "Atopic disease, including atopic dermatitis (eczema), allergy and asthma, has increased in frequency in recent decades and now affects approximately 20% of the population in the developed world. Twin and family studies have shown that predisposition to atopic disease is highly heritable. Although most genetic studies have focused on immunological mechanisms, a primary epithelial barrier defect has been anticipated. Filaggrin is a key protein that facilitates terminal differentiation of the epidermis and formation of the skin barrier. Here we show that two independent loss-of-function genetic variants (R510X and 2282del4) in the gene encoding filaggrin (FLG) are very strong predisposing factors for atopic dermatitis. These variants are carried by approximately 9% of people of European origin. These variants also show highly significant association with asthma occurring in the context of atopic dermatitis. This work establishes a key role for impaired skin barrier function in the development of atopic disease.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ng1767", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2753264", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "38"
      }
    ], 
    "name": "Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis", 
    "pagination": "441-446", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "b3253f672d27370fde48504e6e66aaf63c2274603ba41e5b062e1a3820417e1e"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "16550169"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng1767"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1037606618"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng1767", 
      "https://app.dimensions.ai/details/publication/pub.1037606618"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T12:22", 
    "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/v90/0000000362_0000000362/records_87083_00000001.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/ng1767"
  }
]
 

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/ng1767'

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/ng1767'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng1767'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng1767'


 

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

440 TRIPLES      21 PREDICATES      71 URIs      34 LITERALS      22 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng1767 schema:about N027ab54a456740808906fb8e5407de76
2 N373ca147506a42dfaa3c1b317bf77ac5
3 N69c40228a41546ab9d80dd117c643782
4 N6b8400d656044500907ff22bd8f6de66
5 N906c3f5a9b7745f4bb89a5550271011b
6 Na047f3adb6ae4a8b92a976964096e0df
7 Naa71a087efb44948b4588130f8ffe917
8 Nb027dc30aaca45f0887f1ec61cc5f4c5
9 Nc673e840ce004ec0a88a303635dc8420
10 Nc82718e66ee74267b44bbd1ab1022641
11 Nccacd8fb3464421b9a898b721681ecab
12 Nd965abcdf43840a4af973ac9aa26d53a
13 Nebdcf437cdd046d083d1f4133fc7c2a9
14 anzsrc-for:11
15 anzsrc-for:1107
16 schema:author N19f3725702954b80a41042abcf00f1c8
17 schema:citation sg:pub.10.1007/bf02505232
18 sg:pub.10.1007/s00125-005-1817-0
19 sg:pub.10.1007/s00403-005-0590-8
20 sg:pub.10.1038/35037000
21 sg:pub.10.1038/86867
22 sg:pub.10.1038/nature00878
23 sg:pub.10.1038/ng1743
24 sg:pub.10.1038/nrm1619
25 sg:pub.10.1111/j.0022-202x.2004.22621.x
26 https://app.dimensions.ai/details/publication/pub.1074598116
27 https://app.dimensions.ai/details/publication/pub.1075316089
28 https://app.dimensions.ai/details/publication/pub.1080953368
29 https://app.dimensions.ai/details/publication/pub.1082900147
30 https://doi.org/10.1016/j.jaci.2003.09.033
31 https://doi.org/10.1016/s0091-679x(04)78028-0
32 https://doi.org/10.1016/s1081-1206(10)61398-1
33 https://doi.org/10.1021/bi00492a018
34 https://doi.org/10.1034/j.1600-0625.2002.110604.x
35 https://doi.org/10.1046/j.1365-2133.2000.03300.x
36 https://doi.org/10.1080/000155598441792
37 https://doi.org/10.1097/00130832-200210000-00003
38 https://doi.org/10.1111/j.1365-2133.1994.tb08530.x
39 https://doi.org/10.1111/j.1365-2133.1994.tb08532.x
40 https://doi.org/10.1111/j.1365-2133.2005.06352.x
41 https://doi.org/10.1111/j.1398-9995.2004.00526.x
42 https://doi.org/10.1111/j.1398-9995.2005.00646.x
43 https://doi.org/10.1136/bmj.1.5493.947
44 https://doi.org/10.1172/jci1647
45 https://doi.org/10.1177/10454411000110040101
46 schema:datePublished 2006-04
47 schema:datePublishedReg 2006-04-01
48 schema:description Atopic disease, including atopic dermatitis (eczema), allergy and asthma, has increased in frequency in recent decades and now affects approximately 20% of the population in the developed world. Twin and family studies have shown that predisposition to atopic disease is highly heritable. Although most genetic studies have focused on immunological mechanisms, a primary epithelial barrier defect has been anticipated. Filaggrin is a key protein that facilitates terminal differentiation of the epidermis and formation of the skin barrier. Here we show that two independent loss-of-function genetic variants (R510X and 2282del4) in the gene encoding filaggrin (FLG) are very strong predisposing factors for atopic dermatitis. These variants are carried by approximately 9% of people of European origin. These variants also show highly significant association with asthma occurring in the context of atopic dermatitis. This work establishes a key role for impaired skin barrier function in the development of atopic disease.
49 schema:genre research_article
50 schema:inLanguage en
51 schema:isAccessibleForFree false
52 schema:isPartOf Nbbc282c87de74bb0ae4afeec30fe640c
53 Nce4b15bc41db4365aafc1ef83fc46016
54 sg:journal.1103138
55 schema:name Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
56 schema:pagination 441-446
57 schema:productId N07de95d280be4d8885adfb3e10fc8a9a
58 N0eac6323047b4c4fa675216542ce790c
59 N2b5fe46138514068995220c0f75ea463
60 Na8213df89b404b9bacd1ef6d540080e1
61 Nd403bc55d07c49a2bf9818f000626878
62 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037606618
63 https://doi.org/10.1038/ng1767
64 schema:sdDatePublished 2019-04-11T12:22
65 schema:sdLicense https://scigraph.springernature.com/explorer/license/
66 schema:sdPublisher Naa4761445ebe415cbe8c760a722a90f9
67 schema:url http://www.nature.com/articles/ng1767
68 sgo:license sg:explorer/license/
69 sgo:sdDataset articles
70 rdf:type schema:ScholarlyArticle
71 N027ab54a456740808906fb8e5407de76 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
72 schema:name Dermatitis, Atopic
73 rdf:type schema:DefinedTerm
74 N03d266d1114c4ee2b862925408281c3d rdf:first sg:person.0713540153.74
75 rdf:rest Nc1fdd31dbcf84728a84e0ae1e7f0363c
76 N0666196123bf409b95465c95956acc01 rdf:first sg:person.011612133312.19
77 rdf:rest Nf0fbb0ba5fab41fe85796ce2168f8710
78 N07de95d280be4d8885adfb3e10fc8a9a schema:name nlm_unique_id
79 schema:value 9216904
80 rdf:type schema:PropertyValue
81 N0eac6323047b4c4fa675216542ce790c schema:name doi
82 schema:value 10.1038/ng1767
83 rdf:type schema:PropertyValue
84 N18363bb9bc3443799259ed01fe04a533 schema:name Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.
85 rdf:type schema:Organization
86 N19f3725702954b80a41042abcf00f1c8 rdf:first sg:person.01016372227.74
87 rdf:rest N57174c26c8474f099e694bead36396cc
88 N2261294094d745b5b9af924e1d892c3d rdf:first sg:person.0773243023.18
89 rdf:rest N03d266d1114c4ee2b862925408281c3d
90 N25536ff20cb94c029af101e044f4572e rdf:first sg:person.01224360635.70
91 rdf:rest N0666196123bf409b95465c95956acc01
92 N2b5fe46138514068995220c0f75ea463 schema:name readcube_id
93 schema:value b3253f672d27370fde48504e6e66aaf63c2274603ba41e5b062e1a3820417e1e
94 rdf:type schema:PropertyValue
95 N2f3062d8bc644421a2b18292a4e1df79 rdf:first Nebfb2fc79fdb46399597199af2bdb510
96 rdf:rest Nd2c248fd311c436ca01d98319c4ed619
97 N2fce76f95e214a38a1d9b1020a91275a schema:name Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.
98 rdf:type schema:Organization
99 N30123c04d09b4409a6b71d65521d3efb rdf:first sg:person.01370052143.46
100 rdf:rest Nd163107bb7154c669ea5b6bcc7ed2e7e
101 N373ca147506a42dfaa3c1b317bf77ac5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
102 schema:name Child
103 rdf:type schema:DefinedTerm
104 N3bffa55507564c99952643b086a88c6c schema:name Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.
105 rdf:type schema:Organization
106 N3e88e59d83644ba48d70b06812523e11 schema:name Population Pharmacogenetics Group, Biomedical Research Centre, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.
107 rdf:type schema:Organization
108 N44055dfea4ba4445b44c96d7b63dd810 rdf:first sg:person.0747244177.75
109 rdf:rest Na9bab73f08db452e8eee13469082c18b
110 N475e610d31ca440e94bb6a03a603170c schema:name Population Pharmacogenetics Group, Biomedical Research Centre, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.
111 rdf:type schema:Organization
112 N57174c26c8474f099e694bead36396cc rdf:first sg:person.010621045547.38
113 rdf:rest N5f01b853330e4a6da0005f49a1d344c9
114 N5990d689e3fa43dfbf75c6d0b04db795 schema:name Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.
115 rdf:type schema:Organization
116 N5ac1ee79abb140b8836585fc8a1c9b8e rdf:first sg:person.015667527745.81
117 rdf:rest Nb34ce6859de840219a124afe9e7c4c33
118 N5f01b853330e4a6da0005f49a1d344c9 rdf:first sg:person.0667236004.31
119 rdf:rest N44055dfea4ba4445b44c96d7b63dd810
120 N673773093d794913821e499ec868e478 schema:name Danish Paediatric Asthma Centre, Copenhagen, University Hospital, DK-2900 Gentofte, Copenhagen, Denmark.
121 rdf:type schema:Organization
122 N6980fdb934e74b84826dcbaec384a2ae schema:affiliation Nbf4475aa19bd42dabe7977716aa91689
123 schema:familyName Mukhopadhyay
124 schema:givenName Somnath
125 rdf:type schema:Person
126 N69c40228a41546ab9d80dd117c643782 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
127 schema:name Humans
128 rdf:type schema:DefinedTerm
129 N6b8400d656044500907ff22bd8f6de66 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
130 schema:name Asthma
131 rdf:type schema:DefinedTerm
132 N789ce8e9518e4be09275b31f474b0779 schema:name Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.
133 rdf:type schema:Organization
134 N7d49d4e783b3495ca4b922295f97f7a1 schema:affiliation https://www.grid.ac/institutes/grid.11914.3c
135 schema:familyName Cecil
136 schema:givenName Jo E
137 rdf:type schema:Person
138 N8244a31b46ac4b4db7b5b80ef6a7fdb5 rdf:first sg:person.0727325552.70
139 rdf:rest Nb947c17b797741aca8ef0f4ef0d9cdfd
140 N906c3f5a9b7745f4bb89a5550271011b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
141 schema:name Intermediate Filament Proteins
142 rdf:type schema:DefinedTerm
143 Na047f3adb6ae4a8b92a976964096e0df schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
144 schema:name Genetic Predisposition to Disease
145 rdf:type schema:DefinedTerm
146 Na3b4fb9cf55043deb39784834ebdb09a rdf:first sg:person.01346765043.51
147 rdf:rest Ne673ed14f1174c39beed09d46e921b78
148 Na4bfd51af61449a5a3596dc509218a46 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
149 schema:familyName Fleckman
150 schema:givenName Philip
151 rdf:type schema:Person
152 Na541010f95a74dea900831fa4e1a1ae4 rdf:first sg:person.01347740423.86
153 rdf:rest Nc03a6d35c337448a9df67f75c3ffea26
154 Na8213df89b404b9bacd1ef6d540080e1 schema:name pubmed_id
155 schema:value 16550169
156 rdf:type schema:PropertyValue
157 Na9bab73f08db452e8eee13469082c18b rdf:first sg:person.01063472577.24
158 rdf:rest N2f3062d8bc644421a2b18292a4e1df79
159 Naa4761445ebe415cbe8c760a722a90f9 schema:name Springer Nature - SN SciGraph project
160 rdf:type schema:Organization
161 Naa71a087efb44948b4588130f8ffe917 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
162 schema:name Mutation
163 rdf:type schema:DefinedTerm
164 Nb027dc30aaca45f0887f1ec61cc5f4c5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
165 schema:name Male
166 rdf:type schema:DefinedTerm
167 Nb34ce6859de840219a124afe9e7c4c33 rdf:first sg:person.01230331566.93
168 rdf:rest N2261294094d745b5b9af924e1d892c3d
169 Nb947c17b797741aca8ef0f4ef0d9cdfd rdf:first sg:person.0771577652.15
170 rdf:rest Na3b4fb9cf55043deb39784834ebdb09a
171 Nbbc282c87de74bb0ae4afeec30fe640c schema:volumeNumber 38
172 rdf:type schema:PublicationVolume
173 Nbf4475aa19bd42dabe7977716aa91689 schema:name Danish Paediatric Asthma Centre, Copenhagen, University Hospital, DK-2900 Gentofte, Copenhagen, Denmark.
174 rdf:type schema:Organization
175 Nc03a6d35c337448a9df67f75c3ffea26 rdf:first sg:person.0743377731.49
176 rdf:rest N5ac1ee79abb140b8836585fc8a1c9b8e
177 Nc1fdd31dbcf84728a84e0ae1e7f0363c rdf:first N6980fdb934e74b84826dcbaec384a2ae
178 rdf:rest Ndf6af8d9ab2f4381af8c29d3e672723e
179 Nc673e840ce004ec0a88a303635dc8420 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
180 schema:name Cohort Studies
181 rdf:type schema:DefinedTerm
182 Nc82718e66ee74267b44bbd1ab1022641 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
183 schema:name Alleles
184 rdf:type schema:DefinedTerm
185 Ncab7d335a2814484b0e72ebc188c5fc2 rdf:first N7d49d4e783b3495ca4b922295f97f7a1
186 rdf:rest N8244a31b46ac4b4db7b5b80ef6a7fdb5
187 Nccacd8fb3464421b9a898b721681ecab schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
188 schema:name Pedigree
189 rdf:type schema:DefinedTerm
190 Nce4b15bc41db4365aafc1ef83fc46016 schema:issueNumber 4
191 rdf:type schema:PublicationIssue
192 Ncf4015afbc534c58b1ad1ac0efe7cfe8 schema:name Danish Paediatric Asthma Centre, Copenhagen, University Hospital, DK-2900 Gentofte, Copenhagen, Denmark.
193 rdf:type schema:Organization
194 Nd0af04368d7d4e508f2651e677810190 rdf:first sg:person.01340607235.96
195 rdf:rest Ncab7d335a2814484b0e72ebc188c5fc2
196 Nd163107bb7154c669ea5b6bcc7ed2e7e rdf:first sg:person.01101676571.81
197 rdf:rest Na541010f95a74dea900831fa4e1a1ae4
198 Nd2c248fd311c436ca01d98319c4ed619 rdf:first sg:person.01026627674.97
199 rdf:rest Ne63bb29d4843495cbb7db08479c92737
200 Nd403bc55d07c49a2bf9818f000626878 schema:name dimensions_id
201 schema:value pub.1037606618
202 rdf:type schema:PropertyValue
203 Nd71d07983c0c4cc29d698a91e1d4bd45 schema:name Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.
204 rdf:type schema:Organization
205 Nd965abcdf43840a4af973ac9aa26d53a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
206 schema:name Female
207 rdf:type schema:DefinedTerm
208 Ndf6af8d9ab2f4381af8c29d3e672723e rdf:first sg:person.013705635017.95
209 rdf:rest rdf:nil
210 Ne63bb29d4843495cbb7db08479c92737 rdf:first sg:person.01267754172.49
211 rdf:rest N25536ff20cb94c029af101e044f4572e
212 Ne673ed14f1174c39beed09d46e921b78 rdf:first Na4bfd51af61449a5a3596dc509218a46
213 rdf:rest N30123c04d09b4409a6b71d65521d3efb
214 Ne98a4407b901443aadc40a1119779464 schema:name Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.
215 rdf:type schema:Organization
216 Nebdcf437cdd046d083d1f4133fc7c2a9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
217 schema:name Skin Physiological Phenomena
218 rdf:type schema:DefinedTerm
219 Nebfb2fc79fdb46399597199af2bdb510 schema:affiliation N475e610d31ca440e94bb6a03a603170c
220 schema:familyName Lee
221 schema:givenName Simon P
222 rdf:type schema:Person
223 Nf0fbb0ba5fab41fe85796ce2168f8710 rdf:first sg:person.01223715651.47
224 rdf:rest Nd0af04368d7d4e508f2651e677810190
225 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
226 schema:name Medical and Health Sciences
227 rdf:type schema:DefinedTerm
228 anzsrc-for:1107 schema:inDefinedTermSet anzsrc-for:
229 schema:name Immunology
230 rdf:type schema:DefinedTerm
231 sg:grant.2753264 http://pending.schema.org/fundedItem sg:pub.10.1038/ng1767
232 rdf:type schema:MonetaryGrant
233 sg:journal.1103138 schema:issn 1061-4036
234 1546-1718
235 schema:name Nature Genetics
236 rdf:type schema:Periodical
237 sg:person.01016372227.74 schema:affiliation N3e88e59d83644ba48d70b06812523e11
238 schema:familyName Palmer
239 schema:givenName Colin N A
240 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01016372227.74
241 rdf:type schema:Person
242 sg:person.01026627674.97 schema:affiliation https://www.grid.ac/institutes/grid.416266.1
243 schema:familyName Goudie
244 schema:givenName David R
245 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026627674.97
246 rdf:type schema:Person
247 sg:person.010621045547.38 schema:affiliation https://www.grid.ac/institutes/grid.417322.1
248 schema:familyName Irvine
249 schema:givenName Alan D
250 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010621045547.38
251 rdf:type schema:Person
252 sg:person.01063472577.24 schema:affiliation N5990d689e3fa43dfbf75c6d0b04db795
253 schema:familyName Liao
254 schema:givenName Haihui
255 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01063472577.24
256 rdf:type schema:Person
257 sg:person.01101676571.81 schema:affiliation https://www.grid.ac/institutes/grid.416266.1
258 schema:familyName Arseculeratne
259 schema:givenName Gehan
260 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101676571.81
261 rdf:type schema:Person
262 sg:person.011612133312.19 schema:affiliation Nd71d07983c0c4cc29d698a91e1d4bd45
263 schema:familyName Smith
264 schema:givenName Frances J D
265 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011612133312.19
266 rdf:type schema:Person
267 sg:person.01223715651.47 schema:affiliation https://www.grid.ac/institutes/grid.417322.1
268 schema:familyName O'Regan
269 schema:givenName Gráinne M
270 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01223715651.47
271 rdf:type schema:Person
272 sg:person.01224360635.70 schema:affiliation N3bffa55507564c99952643b086a88c6c
273 schema:familyName Campbell
274 schema:givenName Linda E
275 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01224360635.70
276 rdf:type schema:Person
277 sg:person.01230331566.93 schema:affiliation https://www.grid.ac/institutes/grid.428999.7
278 schema:familyName McElreavey
279 schema:givenName Ken
280 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230331566.93
281 rdf:type schema:Person
282 sg:person.01267754172.49 schema:affiliation N2fce76f95e214a38a1d9b1020a91275a
283 schema:familyName Sandilands
284 schema:givenName Aileen
285 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01267754172.49
286 rdf:type schema:Person
287 sg:person.01340607235.96 schema:affiliation https://www.grid.ac/institutes/grid.417322.1
288 schema:familyName Watson
289 schema:givenName Rosemarie M
290 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01340607235.96
291 rdf:type schema:Person
292 sg:person.01346765043.51 schema:affiliation https://www.grid.ac/institutes/grid.94365.3d
293 schema:familyName DiGiovanna
294 schema:givenName John J
295 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01346765043.51
296 rdf:type schema:Person
297 sg:person.01347740423.86 schema:affiliation https://www.grid.ac/institutes/grid.413301.4
298 schema:familyName Sergeant
299 schema:givenName Ann
300 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01347740423.86
301 rdf:type schema:Person
302 sg:person.01370052143.46 schema:affiliation https://www.grid.ac/institutes/grid.416266.1
303 schema:familyName Lewis-Jones
304 schema:givenName Sue
305 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01370052143.46
306 rdf:type schema:Person
307 sg:person.013705635017.95 schema:affiliation N789ce8e9518e4be09275b31f474b0779
308 schema:familyName McLean
309 schema:givenName W H Irwin
310 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013705635017.95
311 rdf:type schema:Person
312 sg:person.015667527745.81 schema:affiliation https://www.grid.ac/institutes/grid.428999.7
313 schema:familyName Houate
314 schema:givenName Brahim El
315 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015667527745.81
316 rdf:type schema:Person
317 sg:person.0667236004.31 schema:affiliation Ne98a4407b901443aadc40a1119779464
318 schema:familyName Terron-Kwiatkowski
319 schema:givenName Ana
320 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0667236004.31
321 rdf:type schema:Person
322 sg:person.0713540153.74 schema:affiliation N673773093d794913821e499ec868e478
323 schema:familyName Bisgaard
324 schema:givenName Hans
325 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0713540153.74
326 rdf:type schema:Person
327 sg:person.0727325552.70 schema:affiliation https://www.grid.ac/institutes/grid.428467.b
328 schema:familyName Bale
329 schema:givenName Sherri J
330 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0727325552.70
331 rdf:type schema:Person
332 sg:person.0743377731.49 schema:affiliation https://www.grid.ac/institutes/grid.413301.4
333 schema:familyName Munro
334 schema:givenName Colin S
335 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0743377731.49
336 rdf:type schema:Person
337 sg:person.0747244177.75 schema:affiliation N18363bb9bc3443799259ed01fe04a533
338 schema:familyName Zhao
339 schema:givenName Yiwei
340 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747244177.75
341 rdf:type schema:Person
342 sg:person.0771577652.15 schema:affiliation https://www.grid.ac/institutes/grid.428467.b
343 schema:familyName Compton
344 schema:givenName John G
345 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0771577652.15
346 rdf:type schema:Person
347 sg:person.0773243023.18 schema:affiliation Ncf4015afbc534c58b1ad1ac0efe7cfe8
348 schema:familyName Halkjaer
349 schema:givenName Liselotte B
350 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773243023.18
351 rdf:type schema:Person
352 sg:pub.10.1007/bf02505232 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018859083
353 https://doi.org/10.1007/bf02505232
354 rdf:type schema:CreativeWork
355 sg:pub.10.1007/s00125-005-1817-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021286254
356 https://doi.org/10.1007/s00125-005-1817-0
357 rdf:type schema:CreativeWork
358 sg:pub.10.1007/s00403-005-0590-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047147671
359 https://doi.org/10.1007/s00403-005-0590-8
360 rdf:type schema:CreativeWork
361 sg:pub.10.1038/35037000 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046012534
362 https://doi.org/10.1038/35037000
363 rdf:type schema:CreativeWork
364 sg:pub.10.1038/86867 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018492984
365 https://doi.org/10.1038/86867
366 rdf:type schema:CreativeWork
367 sg:pub.10.1038/nature00878 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000571676
368 https://doi.org/10.1038/nature00878
369 rdf:type schema:CreativeWork
370 sg:pub.10.1038/ng1743 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041094404
371 https://doi.org/10.1038/ng1743
372 rdf:type schema:CreativeWork
373 sg:pub.10.1038/nrm1619 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031545491
374 https://doi.org/10.1038/nrm1619
375 rdf:type schema:CreativeWork
376 sg:pub.10.1111/j.0022-202x.2004.22621.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1002025464
377 https://doi.org/10.1111/j.0022-202x.2004.22621.x
378 rdf:type schema:CreativeWork
379 https://app.dimensions.ai/details/publication/pub.1074598116 schema:CreativeWork
380 https://app.dimensions.ai/details/publication/pub.1075316089 schema:CreativeWork
381 https://app.dimensions.ai/details/publication/pub.1080953368 schema:CreativeWork
382 https://app.dimensions.ai/details/publication/pub.1082900147 schema:CreativeWork
383 https://doi.org/10.1016/j.jaci.2003.09.033 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028911901
384 rdf:type schema:CreativeWork
385 https://doi.org/10.1016/s0091-679x(04)78028-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009356493
386 rdf:type schema:CreativeWork
387 https://doi.org/10.1016/s1081-1206(10)61398-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047855057
388 rdf:type schema:CreativeWork
389 https://doi.org/10.1021/bi00492a018 schema:sameAs https://app.dimensions.ai/details/publication/pub.1055178165
390 rdf:type schema:CreativeWork
391 https://doi.org/10.1034/j.1600-0625.2002.110604.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1014171938
392 rdf:type schema:CreativeWork
393 https://doi.org/10.1046/j.1365-2133.2000.03300.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1016126777
394 rdf:type schema:CreativeWork
395 https://doi.org/10.1080/000155598441792 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058255315
396 rdf:type schema:CreativeWork
397 https://doi.org/10.1097/00130832-200210000-00003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043428833
398 rdf:type schema:CreativeWork
399 https://doi.org/10.1111/j.1365-2133.1994.tb08530.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1014679220
400 rdf:type schema:CreativeWork
401 https://doi.org/10.1111/j.1365-2133.1994.tb08532.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1040076056
402 rdf:type schema:CreativeWork
403 https://doi.org/10.1111/j.1365-2133.2005.06352.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1043386570
404 rdf:type schema:CreativeWork
405 https://doi.org/10.1111/j.1398-9995.2004.00526.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1044252503
406 rdf:type schema:CreativeWork
407 https://doi.org/10.1111/j.1398-9995.2005.00646.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1006128464
408 rdf:type schema:CreativeWork
409 https://doi.org/10.1136/bmj.1.5493.947 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027610444
410 rdf:type schema:CreativeWork
411 https://doi.org/10.1172/jci1647 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032847095
412 rdf:type schema:CreativeWork
413 https://doi.org/10.1177/10454411000110040101 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001886730
414 rdf:type schema:CreativeWork
415 https://www.grid.ac/institutes/grid.11914.3c schema:alternateName University of St Andrews
416 schema:name The Bute Medical School, University of St. Andrews, St. Andrews, Fife, Scotland, UK.
417 rdf:type schema:Organization
418 https://www.grid.ac/institutes/grid.34477.33 schema:alternateName University of Washington
419 schema:name Division of Dermatology, Department of Medicine, University of Washington, Seattle, Washington 98195, USA.
420 rdf:type schema:Organization
421 https://www.grid.ac/institutes/grid.413301.4 schema:alternateName NHS Greater Glasgow and Clyde
422 schema:name Department of Dermatology, South Glasgow University Hospitals NHS Trust, Glasgow G51 4TF, UK.
423 rdf:type schema:Organization
424 https://www.grid.ac/institutes/grid.416266.1 schema:alternateName Ninewells Hospital
425 schema:name Clinical Genetics, Tayside University Hospitals NHS Trust, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.
426 Dermatology, Tayside University Hospitals NHS Trust, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.
427 rdf:type schema:Organization
428 https://www.grid.ac/institutes/grid.417322.1 schema:alternateName Our Lady's Children's Hospital
429 schema:name Department of Paediatric Dermatology, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland.
430 rdf:type schema:Organization
431 https://www.grid.ac/institutes/grid.428467.b schema:alternateName OPKO Health (United States)
432 schema:name GeneDx, Gaithersburg, Maryland 20877, USA.
433 rdf:type schema:Organization
434 https://www.grid.ac/institutes/grid.428999.7 schema:alternateName Institut Pasteur
435 schema:name Reproduction, Fertility and Populations, Institut Pasteur, 75724 Paris, France.
436 rdf:type schema:Organization
437 https://www.grid.ac/institutes/grid.94365.3d schema:alternateName National Institutes of Health
438 schema:name Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
439 Division of Dermatopharmacology, Department of Dermatology, Brown Medical School and Rhode Island Hospital, Providence, Rhode Island 02903, USA.
440 rdf:type schema:Organization
 




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


...