Genome-wide methylation profiling of ADPKD identified epigenetically regulated genes associated with renal cyst development View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2014-03

AUTHORS

Yu Mi Woo, Jae-Bum Bae, Yeon-Hee Oh, Young-Gun Lee, Min Joo Lee, Eun Young Park, Jung-Kyoon Choi, Sunyoung Lee, Yubin Shin, Jaemyun Lyu, Hye-Yoon Jung, Yeon-Su Lee, Young-Hwan Hwang, Young-Joon Kim, Jong Hoon Park

ABSTRACT

Autosomal dominant polycystic kidney disease (ADPKD) is a common human genetic disease characterized by the formation of multiple fluid-filled cysts in bilateral kidneys. Although mutations in polycystic kidney disease 1 (PKD1) are predominantly responsible for ADPKD, the focal and sporadic property of individual cystogenesis suggests another molecular mechanism such as epigenetic alterations. To determine the epigenomic alterations in ADPKD and their functional relevance, ADPKD and non-ADPKD individuals were analyzed by unbiased methylation profiling genome-wide and compared with their expression data. Intriguingly, PKD1 and other genes related to ion transport and cell adhesion were hypermethylated in gene-body regions, and their expressions were downregulated in ADPKD, implicating epigenetic silencing as the key mechanism underlying cystogenesis. Especially, in patients with ADPKD, PKD1 was hypermethylated in gene-body region and it was associated with recruitment of methyl-CpG-binding domain 2 proteins. Moreover, treatment with DNA methylation inhibitors retarded cyst formation of Madin-Darby Canine Kidney cells, accompanied with the upregulation of Pkd1 expression. These results are consistent with previous studies that knock-down of PKD1 was sufficient for cystogenesis. Therefore, our results reveal a critical role for hypermethylation of PKD1 and cystogenesis-related regulatory genes in cyst development, suggesting epigenetic therapy as a potential treatment for ADPKD. More... »

PAGES

281-297

References to SciGraph publications

  • 2004-02. The history of cancer epigenetics in NATURE REVIEWS CANCER
  • 2009-11. Human DNA methylomes at base resolution show widespread epigenomic differences in NATURE
  • 1995-03. Gamete–specific methylation correlates with imprinting of the murine Xist gene in NATURE GENETICS
  • 2011-12. Identification of DNA methylation changes associated with human gastric cancer in BMC MEDICAL GENOMICS
  • 2008-03. Notch inhibition reverses kidney failure in NATURE MEDICINE
  • 2009-09. Nucleosome deposition and DNA methylation at coding region boundaries in GENOME BIOLOGY
  • 2003-05. DAVID: Database for Annotation, Visualization, and Integrated Discovery in GENOME BIOLOGY
  • 2010-07. Contrasting chromatin organization of CpG islands and exons in the human genome in GENOME BIOLOGY
  • 2009-12. Epithelial to mesenchymal transition and breast cancer in BREAST CANCER RESEARCH
  • 2010-11. L1 retrotransposition in neurons is modulated by MeCP2 in NATURE
  • 2000-07. Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007-09. DNA methylation analysis by pyrosequencing in NATURE PROTOCOLS
  • 2008-02. Polycystic kidney diseases: From molecular discoveries to targeted therapeutic strategies in CELLULAR AND MOLECULAR LIFE SCIENCES
  • 2010-04-15. CpG islands influence chromatin structure via the CpG-binding protein Cfp1 in NATURE
  • 1998-12. Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1 in HUMAN GENETICS
  • 2005-03. Combination therapy with ACE inhibitors and angiotensin II receptor blockers to halt progression of chronic renal disease: Pathophysiology and indications in KIDNEY INTERNATIONAL
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00439-013-1378-0

    DOI

    http://dx.doi.org/10.1007/s00439-013-1378-0

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1002714972

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/24129831


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

    JSON-LD is the canonical representation for SciGraph data.

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

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Animals", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cell Line", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Chromatin Immunoprecipitation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Comparative Genomic Hybridization", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Computational Biology", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cysts", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "DNA Methylation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Dogs", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Down-Regulation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Epigenesis, Genetic", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Gene Expression Profiling", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Gene Silencing", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genome-Wide Association Study", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Kidney", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Madin Darby Canine Kidney Cells", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mutation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Polycystic Kidney, Autosomal Dominant", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "RNA", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Sequence Analysis, DNA", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Signal Transduction", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "TRPP Cation Channels", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Transcription Factors", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Sookmyung Women's University", 
              "id": "https://www.grid.ac/institutes/grid.412670.6", 
              "name": [
                "Department of Biological Science, Sookmyung Women\u2019s University, 140-742, Seoul, Korea"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Woo", 
            "givenName": "Yu Mi", 
            "id": "sg:person.01031245117.16", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01031245117.16"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Korea National Institute of Health", 
              "id": "https://www.grid.ac/institutes/grid.415482.e", 
              "name": [
                "Department of Integrated Omics, Yonsei University, 120-749, Seoul, Korea", 
                "Division of Structural and Functional Genomics, Center for Genome Sciences, Korea National Institute of Health, Seoul, Korea"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bae", 
            "givenName": "Jae-Bum", 
            "id": "sg:person.01224177441.49", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01224177441.49"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Yonsei University", 
              "id": "https://www.grid.ac/institutes/grid.15444.30", 
              "name": [
                "Department of Integrated Omics, Yonsei University, 120-749, Seoul, Korea"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Oh", 
            "givenName": "Yeon-Hee", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Yonsei University", 
              "id": "https://www.grid.ac/institutes/grid.15444.30", 
              "name": [
                "Department of Integrated Omics, Yonsei University, 120-749, Seoul, Korea"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lee", 
            "givenName": "Young-Gun", 
            "id": "sg:person.01320245514.08", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01320245514.08"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Sookmyung Women's University", 
              "id": "https://www.grid.ac/institutes/grid.412670.6", 
              "name": [
                "Department of Biological Science, Sookmyung Women\u2019s University, 140-742, Seoul, Korea"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lee", 
            "givenName": "Min Joo", 
            "id": "sg:person.01174147744.71", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01174147744.71"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Sookmyung Women's University", 
              "id": "https://www.grid.ac/institutes/grid.412670.6", 
              "name": [
                "Department of Biological Science, Sookmyung Women\u2019s University, 140-742, Seoul, Korea"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Park", 
            "givenName": "Eun Young", 
            "id": "sg:person.0610726032.48", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0610726032.48"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Yonsei University", 
              "id": "https://www.grid.ac/institutes/grid.15444.30", 
              "name": [
                "Department of Integrated Omics, Yonsei University, 120-749, Seoul, Korea"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Choi", 
            "givenName": "Jung-Kyoon", 
            "id": "sg:person.01026736206.85", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026736206.85"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Sookmyung Women's University", 
              "id": "https://www.grid.ac/institutes/grid.412670.6", 
              "name": [
                "Department of Biological Science, Sookmyung Women\u2019s University, 140-742, Seoul, Korea"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lee", 
            "givenName": "Sunyoung", 
            "id": "sg:person.01125577542.50", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01125577542.50"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Sookmyung Women's University", 
              "id": "https://www.grid.ac/institutes/grid.412670.6", 
              "name": [
                "Department of Biological Science, Sookmyung Women\u2019s University, 140-742, Seoul, Korea"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Shin", 
            "givenName": "Yubin", 
            "id": "sg:person.01173712742.48", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01173712742.48"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Yonsei University", 
              "id": "https://www.grid.ac/institutes/grid.15444.30", 
              "name": [
                "Department of Integrated Omics, Yonsei University, 120-749, Seoul, Korea"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lyu", 
            "givenName": "Jaemyun", 
            "id": "sg:person.01204017114.51", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204017114.51"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Yonsei University", 
              "id": "https://www.grid.ac/institutes/grid.15444.30", 
              "name": [
                "Department of Integrated Omics, Yonsei University, 120-749, Seoul, Korea"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Jung", 
            "givenName": "Hye-Yoon", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "National Cancer Center", 
              "id": "https://www.grid.ac/institutes/grid.410914.9", 
              "name": [
                "Branch of Cancer Genomics, Research Institute, National Cancer Center, Goyang, Korea"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lee", 
            "givenName": "Yeon-Su", 
            "id": "sg:person.01174621145.24", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01174621145.24"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Eulji General Hospital", 
              "id": "https://www.grid.ac/institutes/grid.414642.1", 
              "name": [
                "Department of Internal Medicine, Eulji General Hospital, 139-892, Seoul, Korea"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hwang", 
            "givenName": "Young-Hwan", 
            "id": "sg:person.01327670401.92", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01327670401.92"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Yonsei University", 
              "id": "https://www.grid.ac/institutes/grid.15444.30", 
              "name": [
                "Department of Integrated Omics, Yonsei University, 120-749, Seoul, Korea"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kim", 
            "givenName": "Young-Joon", 
            "id": "sg:person.01232364133.44", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01232364133.44"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Sookmyung Women's University", 
              "id": "https://www.grid.ac/institutes/grid.412670.6", 
              "name": [
                "Department of Biological Science, Sookmyung Women\u2019s University, 140-742, Seoul, Korea"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Park", 
            "givenName": "Jong Hoon", 
            "id": "sg:person.01176632551.07", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01176632551.07"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1016/j.bbadis.2010.09.016", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000226310"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08514", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001394004", 
              "https://doi.org/10.1038/nature08514"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08514", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001394004", 
              "https://doi.org/10.1038/nature08514"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.84.17.6210", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002475227"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.ejhg.5200484", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003004303", 
              "https://doi.org/10.1038/sj.ejhg.5200484"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/sj.ejhg.5200484", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003004303", 
              "https://doi.org/10.1038/sj.ejhg.5200484"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1681/asn.2006121387", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003079996"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1681/asn.2006121387", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003079996"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08924", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003145346", 
              "https://doi.org/10.1038/nature08924"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature08924", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003145346", 
              "https://doi.org/10.1038/nature08924"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1101/gr.118703.110", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004511130"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0092-8674(02)01084-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005479566"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.2353/ajpath.2006.050342", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1006555495"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrc1279", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009116910", 
              "https://doi.org/10.1038/nrc1279"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrc1279", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009116910", 
              "https://doi.org/10.1038/nrc1279"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.cell.2007.01.029", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009285166"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddq513", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010596206"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.bbadis.2010.10.004", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1010747233"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1755-8794-4-82", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011376532", 
              "https://doi.org/10.1186/1755-8794-4-82"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1111/j.1523-1755.2005.00145.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1011440471", 
              "https://doi.org/10.1111/j.1523-1755.2005.00145.x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1074/jbc.m700011200", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012695025"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s004390050896", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014179124", 
              "https://doi.org/10.1007/s004390050896"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s004390050896", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014179124", 
              "https://doi.org/10.1007/s004390050896"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/9.3.447", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015743590"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.2215/cjn.01360210", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016573495"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng0395-312", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019388773", 
              "https://doi.org/10.1038/ng0395-312"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0092-8674(00)81793-6", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020543227"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/gb-2003-4-5-p3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021292424", 
              "https://doi.org/10.1186/gb-2003-4-5-p3"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/gb-2009-10-9-r89", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024974925", 
              "https://doi.org/10.1186/gb-2009-10-9-r89"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature09544", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025187721", 
              "https://doi.org/10.1038/nature09544"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature09544", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025187721", 
              "https://doi.org/10.1038/nature09544"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.semcdb.2010.08.010", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025996029"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nprot.2007.314", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027408047", 
              "https://doi.org/10.1038/nprot.2007.314"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddh336", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027846672"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.5483/bmbrep.2011.44.6.359", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029188650"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0272-6386(96)90378-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029665599"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1056/nejm199307293290508", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029778659"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/bcr2416", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032396702", 
              "https://doi.org/10.1186/bcr2416"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s1097-2765(00)00123-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035736569"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddp165", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036161424"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.bbadis.2010.10.008", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037780387"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nm0308-246", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040070745", 
              "https://doi.org/10.1038/nm0308-246"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1158/0008-5472.can-06-1888", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040337817"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1074/jbc.m805890200", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040635302"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.juro.2008.04.137", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042869142"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00018-007-7362-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045753983", 
              "https://doi.org/10.1007/s00018-007-7362-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00018-007-7362-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045753983", 
              "https://doi.org/10.1007/s00018-007-7362-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1681/asn.2009090925", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046350010"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1681/asn.2009090925", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046350010"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1172/jci119147", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047779182"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1083/jcb.201006173", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050239972"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0092-8674(00)80439-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051102871"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/gb-2010-11-7-r70", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052882599", 
              "https://doi.org/10.1186/gb-2010-11-7-r70"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/318188", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058622322"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1152/ajprenal.00310.2002", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1063197512"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2014-03", 
        "datePublishedReg": "2014-03-01", 
        "description": "Autosomal dominant polycystic kidney disease (ADPKD) is a common human genetic disease characterized by the formation of multiple fluid-filled cysts in bilateral kidneys. Although mutations in polycystic kidney disease 1 (PKD1) are predominantly responsible for ADPKD, the focal and sporadic property of individual cystogenesis suggests another molecular mechanism such as epigenetic alterations. To determine the epigenomic alterations in ADPKD and their functional relevance, ADPKD and non-ADPKD individuals were analyzed by unbiased methylation profiling genome-wide and compared with their expression data. Intriguingly, PKD1 and other genes related to ion transport and cell adhesion were hypermethylated in gene-body regions, and their expressions were downregulated in ADPKD, implicating epigenetic silencing as the key mechanism underlying cystogenesis. Especially, in patients with ADPKD, PKD1 was hypermethylated in gene-body region and it was associated with recruitment of methyl-CpG-binding domain 2 proteins. Moreover, treatment with DNA methylation inhibitors retarded cyst formation of Madin-Darby Canine Kidney cells, accompanied with the upregulation of Pkd1 expression. These results are consistent with previous studies that knock-down of PKD1 was sufficient for cystogenesis. Therefore, our results reveal a critical role for hypermethylation of PKD1 and cystogenesis-related regulatory genes in cyst development, suggesting epigenetic therapy as a potential treatment for ADPKD. ", 
        "genre": "research_article", 
        "id": "sg:pub.10.1007/s00439-013-1378-0", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": false, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.7485418", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1085982", 
            "issn": [
              "0340-6717", 
              "1432-1203"
            ], 
            "name": "Human Genetics", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "3", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "133"
          }
        ], 
        "name": "Genome-wide methylation profiling of ADPKD identified epigenetically regulated genes associated with renal cyst development", 
        "pagination": "281-297", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "0ced4074a582bb21bca673849dfbe2860e87321a25bfae63d56e1f9105cc4186"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "24129831"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "7613873"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1007/s00439-013-1378-0"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1002714972"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1007/s00439-013-1378-0", 
          "https://app.dimensions.ai/details/publication/pub.1002714972"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-11T10:01", 
        "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/v90/0000000347_0000000347/records_89819_00000000.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://link.springer.com/10.1007%2Fs00439-013-1378-0"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s00439-013-1378-0'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s00439-013-1378-0'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00439-013-1378-0'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00439-013-1378-0'


     

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

    426 TRIPLES      21 PREDICATES      98 URIs      44 LITERALS      32 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1007/s00439-013-1378-0 schema:about N02463e9c3e0c4facba735fa0fb58b2ac
    2 N133dba9ac24746f39663ca6548c3fcce
    3 N1459375aa7164769b59eedda150a4113
    4 N17e96ec891ea476ba87275c076b19a50
    5 N194eb74ed61f47f6a83e91c1e44c681b
    6 N20358219cdc746b6b2ae091464396913
    7 N2f5d602a15b94108949c6ea2e41db035
    8 N48278ff69c6f4352b00bd0cb8d386704
    9 N567147ae460e4055a2b0a3f712eb86d3
    10 N6f5fb73661434425a6f78b0d6a6c3cf6
    11 N70bea2bab3ee403eb6935fdb48354b7f
    12 N70d3430fee884eb7b7bfcd8840f81f10
    13 N8373e354e07d432d8a6074df95f86257
    14 N843340cafb294e08a3efd04725561edb
    15 N99604b38cacd4a1a9969fe67d276dc85
    16 N9ab1881cbbbd444fafee5d6162e48db9
    17 Na0405c8b1efc4d4992dc834c587b23e2
    18 Nc655be5a149242268bddd0d92a7845cf
    19 Nd5d246004d9f461086d5d6ef9b18c53b
    20 Nd7ab2e504d1542c8956fe5dcec362ff0
    21 Ndc9c14a2d26d48969f7885b11ad86b86
    22 Ne703916cca824ca9bfa91b58221e1491
    23 Nf041c94770124d11862682705e1cfd57
    24 anzsrc-for:06
    25 anzsrc-for:0604
    26 schema:author N793401c14bb542829b7255b353ded533
    27 schema:citation sg:pub.10.1007/s00018-007-7362-x
    28 sg:pub.10.1007/s004390050896
    29 sg:pub.10.1038/nature08514
    30 sg:pub.10.1038/nature08924
    31 sg:pub.10.1038/nature09544
    32 sg:pub.10.1038/ng0395-312
    33 sg:pub.10.1038/nm0308-246
    34 sg:pub.10.1038/nprot.2007.314
    35 sg:pub.10.1038/nrc1279
    36 sg:pub.10.1038/sj.ejhg.5200484
    37 sg:pub.10.1111/j.1523-1755.2005.00145.x
    38 sg:pub.10.1186/1755-8794-4-82
    39 sg:pub.10.1186/bcr2416
    40 sg:pub.10.1186/gb-2003-4-5-p3
    41 sg:pub.10.1186/gb-2009-10-9-r89
    42 sg:pub.10.1186/gb-2010-11-7-r70
    43 https://doi.org/10.1016/j.bbadis.2010.09.016
    44 https://doi.org/10.1016/j.bbadis.2010.10.004
    45 https://doi.org/10.1016/j.bbadis.2010.10.008
    46 https://doi.org/10.1016/j.cell.2007.01.029
    47 https://doi.org/10.1016/j.juro.2008.04.137
    48 https://doi.org/10.1016/j.semcdb.2010.08.010
    49 https://doi.org/10.1016/s0092-8674(00)80439-0
    50 https://doi.org/10.1016/s0092-8674(00)81793-6
    51 https://doi.org/10.1016/s0092-8674(02)01084-x
    52 https://doi.org/10.1016/s0272-6386(96)90378-9
    53 https://doi.org/10.1016/s1097-2765(00)00123-4
    54 https://doi.org/10.1056/nejm199307293290508
    55 https://doi.org/10.1073/pnas.84.17.6210
    56 https://doi.org/10.1074/jbc.m700011200
    57 https://doi.org/10.1074/jbc.m805890200
    58 https://doi.org/10.1083/jcb.201006173
    59 https://doi.org/10.1086/318188
    60 https://doi.org/10.1093/hmg/9.3.447
    61 https://doi.org/10.1093/hmg/ddh336
    62 https://doi.org/10.1093/hmg/ddp165
    63 https://doi.org/10.1093/hmg/ddq513
    64 https://doi.org/10.1101/gr.118703.110
    65 https://doi.org/10.1152/ajprenal.00310.2002
    66 https://doi.org/10.1158/0008-5472.can-06-1888
    67 https://doi.org/10.1172/jci119147
    68 https://doi.org/10.1681/asn.2006121387
    69 https://doi.org/10.1681/asn.2009090925
    70 https://doi.org/10.2215/cjn.01360210
    71 https://doi.org/10.2353/ajpath.2006.050342
    72 https://doi.org/10.5483/bmbrep.2011.44.6.359
    73 schema:datePublished 2014-03
    74 schema:datePublishedReg 2014-03-01
    75 schema:description Autosomal dominant polycystic kidney disease (ADPKD) is a common human genetic disease characterized by the formation of multiple fluid-filled cysts in bilateral kidneys. Although mutations in polycystic kidney disease 1 (PKD1) are predominantly responsible for ADPKD, the focal and sporadic property of individual cystogenesis suggests another molecular mechanism such as epigenetic alterations. To determine the epigenomic alterations in ADPKD and their functional relevance, ADPKD and non-ADPKD individuals were analyzed by unbiased methylation profiling genome-wide and compared with their expression data. Intriguingly, PKD1 and other genes related to ion transport and cell adhesion were hypermethylated in gene-body regions, and their expressions were downregulated in ADPKD, implicating epigenetic silencing as the key mechanism underlying cystogenesis. Especially, in patients with ADPKD, PKD1 was hypermethylated in gene-body region and it was associated with recruitment of methyl-CpG-binding domain 2 proteins. Moreover, treatment with DNA methylation inhibitors retarded cyst formation of Madin-Darby Canine Kidney cells, accompanied with the upregulation of Pkd1 expression. These results are consistent with previous studies that knock-down of PKD1 was sufficient for cystogenesis. Therefore, our results reveal a critical role for hypermethylation of PKD1 and cystogenesis-related regulatory genes in cyst development, suggesting epigenetic therapy as a potential treatment for ADPKD.
    76 schema:genre research_article
    77 schema:inLanguage en
    78 schema:isAccessibleForFree false
    79 schema:isPartOf Naf45b80b48834caa90dc6e046e6f49f9
    80 Nf315cdea7a4b4499be7a2b615d4e28ac
    81 sg:journal.1085982
    82 schema:name Genome-wide methylation profiling of ADPKD identified epigenetically regulated genes associated with renal cyst development
    83 schema:pagination 281-297
    84 schema:productId N44ec9087c9fc489bb32e3ba804e537b5
    85 N5a64b993af5e4e939fd6c4ed5c8b448c
    86 N84c7165332e24d12b62e910564821e2d
    87 Na1b06a4aac504bec9e7c3b04e88d3886
    88 Nbf4caa388ef34c42b069d8a06ae62acd
    89 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002714972
    90 https://doi.org/10.1007/s00439-013-1378-0
    91 schema:sdDatePublished 2019-04-11T10:01
    92 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    93 schema:sdPublisher Nca43a4200f894f0791e6cb593e9fe16c
    94 schema:url https://link.springer.com/10.1007%2Fs00439-013-1378-0
    95 sgo:license sg:explorer/license/
    96 sgo:sdDataset articles
    97 rdf:type schema:ScholarlyArticle
    98 N0085e2ef99ea49d8bd3ff384025ca2a3 schema:affiliation https://www.grid.ac/institutes/grid.15444.30
    99 schema:familyName Oh
    100 schema:givenName Yeon-Hee
    101 rdf:type schema:Person
    102 N02463e9c3e0c4facba735fa0fb58b2ac schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    103 schema:name Animals
    104 rdf:type schema:DefinedTerm
    105 N133dba9ac24746f39663ca6548c3fcce schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    106 schema:name Sequence Analysis, DNA
    107 rdf:type schema:DefinedTerm
    108 N1459375aa7164769b59eedda150a4113 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    109 schema:name Kidney
    110 rdf:type schema:DefinedTerm
    111 N17e96ec891ea476ba87275c076b19a50 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    112 schema:name Dogs
    113 rdf:type schema:DefinedTerm
    114 N194eb74ed61f47f6a83e91c1e44c681b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    115 schema:name Mutation
    116 rdf:type schema:DefinedTerm
    117 N20358219cdc746b6b2ae091464396913 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    118 schema:name DNA Methylation
    119 rdf:type schema:DefinedTerm
    120 N2f5d602a15b94108949c6ea2e41db035 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    121 schema:name Chromatin Immunoprecipitation
    122 rdf:type schema:DefinedTerm
    123 N3fbbedf0ef0f4461a898ee3dbd458c6a rdf:first sg:person.01232364133.44
    124 rdf:rest N835ae516624047a1ae1bccbad1a90860
    125 N414edc8f842a4b8d8981dc7997c4c3ea rdf:first sg:person.0610726032.48
    126 rdf:rest N9633913131ec46cb8eabaa71e9a6e653
    127 N44b967281a7b491595c24e972076e4f3 rdf:first sg:person.01174147744.71
    128 rdf:rest N414edc8f842a4b8d8981dc7997c4c3ea
    129 N44ec9087c9fc489bb32e3ba804e537b5 schema:name nlm_unique_id
    130 schema:value 7613873
    131 rdf:type schema:PropertyValue
    132 N48278ff69c6f4352b00bd0cb8d386704 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    133 schema:name Gene Silencing
    134 rdf:type schema:DefinedTerm
    135 N54642140411a4daa8868e42cf116201c rdf:first sg:person.01327670401.92
    136 rdf:rest N3fbbedf0ef0f4461a898ee3dbd458c6a
    137 N5643a86fe06d4931a3b21965d2d9a32f schema:affiliation https://www.grid.ac/institutes/grid.15444.30
    138 schema:familyName Jung
    139 schema:givenName Hye-Yoon
    140 rdf:type schema:Person
    141 N567147ae460e4055a2b0a3f712eb86d3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    142 schema:name Madin Darby Canine Kidney Cells
    143 rdf:type schema:DefinedTerm
    144 N5915338886f6457eb36cfc9d57f6086e rdf:first N5643a86fe06d4931a3b21965d2d9a32f
    145 rdf:rest N75a9e01c800e497d89d77c9a1d4b439a
    146 N5a64b993af5e4e939fd6c4ed5c8b448c schema:name readcube_id
    147 schema:value 0ced4074a582bb21bca673849dfbe2860e87321a25bfae63d56e1f9105cc4186
    148 rdf:type schema:PropertyValue
    149 N6493f6729394478a98e95bf6346dfa43 rdf:first sg:person.01173712742.48
    150 rdf:rest Nfd154beca62d4ac9a273c8b158827a14
    151 N68261597dd38415fb73bbe8ae7a08938 rdf:first sg:person.01224177441.49
    152 rdf:rest Nafd1353a12b147bc8a7a9986bb22fd92
    153 N6f5fb73661434425a6f78b0d6a6c3cf6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    154 schema:name Epigenesis, Genetic
    155 rdf:type schema:DefinedTerm
    156 N70bea2bab3ee403eb6935fdb48354b7f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    157 schema:name Humans
    158 rdf:type schema:DefinedTerm
    159 N70d3430fee884eb7b7bfcd8840f81f10 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    160 schema:name Down-Regulation
    161 rdf:type schema:DefinedTerm
    162 N75a9e01c800e497d89d77c9a1d4b439a rdf:first sg:person.01174621145.24
    163 rdf:rest N54642140411a4daa8868e42cf116201c
    164 N793401c14bb542829b7255b353ded533 rdf:first sg:person.01031245117.16
    165 rdf:rest N68261597dd38415fb73bbe8ae7a08938
    166 N835ae516624047a1ae1bccbad1a90860 rdf:first sg:person.01176632551.07
    167 rdf:rest rdf:nil
    168 N8373e354e07d432d8a6074df95f86257 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    169 schema:name Signal Transduction
    170 rdf:type schema:DefinedTerm
    171 N843340cafb294e08a3efd04725561edb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    172 schema:name Polycystic Kidney, Autosomal Dominant
    173 rdf:type schema:DefinedTerm
    174 N84c7165332e24d12b62e910564821e2d schema:name pubmed_id
    175 schema:value 24129831
    176 rdf:type schema:PropertyValue
    177 N9633913131ec46cb8eabaa71e9a6e653 rdf:first sg:person.01026736206.85
    178 rdf:rest Nddfb737af0e64455ba5e231eeee3408c
    179 N99604b38cacd4a1a9969fe67d276dc85 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    180 schema:name Gene Expression Profiling
    181 rdf:type schema:DefinedTerm
    182 N9ab1881cbbbd444fafee5d6162e48db9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    183 schema:name RNA
    184 rdf:type schema:DefinedTerm
    185 Na0405c8b1efc4d4992dc834c587b23e2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    186 schema:name Genome-Wide Association Study
    187 rdf:type schema:DefinedTerm
    188 Na1b06a4aac504bec9e7c3b04e88d3886 schema:name doi
    189 schema:value 10.1007/s00439-013-1378-0
    190 rdf:type schema:PropertyValue
    191 Naf45b80b48834caa90dc6e046e6f49f9 schema:issueNumber 3
    192 rdf:type schema:PublicationIssue
    193 Nafd1353a12b147bc8a7a9986bb22fd92 rdf:first N0085e2ef99ea49d8bd3ff384025ca2a3
    194 rdf:rest Ne0650c774e6747f48db51fa0f24632c8
    195 Nbf4caa388ef34c42b069d8a06ae62acd schema:name dimensions_id
    196 schema:value pub.1002714972
    197 rdf:type schema:PropertyValue
    198 Nc655be5a149242268bddd0d92a7845cf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    199 schema:name TRPP Cation Channels
    200 rdf:type schema:DefinedTerm
    201 Nca43a4200f894f0791e6cb593e9fe16c schema:name Springer Nature - SN SciGraph project
    202 rdf:type schema:Organization
    203 Nd5d246004d9f461086d5d6ef9b18c53b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    204 schema:name Cell Line
    205 rdf:type schema:DefinedTerm
    206 Nd7ab2e504d1542c8956fe5dcec362ff0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    207 schema:name Comparative Genomic Hybridization
    208 rdf:type schema:DefinedTerm
    209 Ndc9c14a2d26d48969f7885b11ad86b86 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    210 schema:name Transcription Factors
    211 rdf:type schema:DefinedTerm
    212 Nddfb737af0e64455ba5e231eeee3408c rdf:first sg:person.01125577542.50
    213 rdf:rest N6493f6729394478a98e95bf6346dfa43
    214 Ne0650c774e6747f48db51fa0f24632c8 rdf:first sg:person.01320245514.08
    215 rdf:rest N44b967281a7b491595c24e972076e4f3
    216 Ne703916cca824ca9bfa91b58221e1491 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    217 schema:name Computational Biology
    218 rdf:type schema:DefinedTerm
    219 Nf041c94770124d11862682705e1cfd57 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    220 schema:name Cysts
    221 rdf:type schema:DefinedTerm
    222 Nf315cdea7a4b4499be7a2b615d4e28ac schema:volumeNumber 133
    223 rdf:type schema:PublicationVolume
    224 Nfd154beca62d4ac9a273c8b158827a14 rdf:first sg:person.01204017114.51
    225 rdf:rest N5915338886f6457eb36cfc9d57f6086e
    226 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    227 schema:name Biological Sciences
    228 rdf:type schema:DefinedTerm
    229 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    230 schema:name Genetics
    231 rdf:type schema:DefinedTerm
    232 sg:grant.7485418 http://pending.schema.org/fundedItem sg:pub.10.1007/s00439-013-1378-0
    233 rdf:type schema:MonetaryGrant
    234 sg:journal.1085982 schema:issn 0340-6717
    235 1432-1203
    236 schema:name Human Genetics
    237 rdf:type schema:Periodical
    238 sg:person.01026736206.85 schema:affiliation https://www.grid.ac/institutes/grid.15444.30
    239 schema:familyName Choi
    240 schema:givenName Jung-Kyoon
    241 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01026736206.85
    242 rdf:type schema:Person
    243 sg:person.01031245117.16 schema:affiliation https://www.grid.ac/institutes/grid.412670.6
    244 schema:familyName Woo
    245 schema:givenName Yu Mi
    246 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01031245117.16
    247 rdf:type schema:Person
    248 sg:person.01125577542.50 schema:affiliation https://www.grid.ac/institutes/grid.412670.6
    249 schema:familyName Lee
    250 schema:givenName Sunyoung
    251 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01125577542.50
    252 rdf:type schema:Person
    253 sg:person.01173712742.48 schema:affiliation https://www.grid.ac/institutes/grid.412670.6
    254 schema:familyName Shin
    255 schema:givenName Yubin
    256 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01173712742.48
    257 rdf:type schema:Person
    258 sg:person.01174147744.71 schema:affiliation https://www.grid.ac/institutes/grid.412670.6
    259 schema:familyName Lee
    260 schema:givenName Min Joo
    261 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01174147744.71
    262 rdf:type schema:Person
    263 sg:person.01174621145.24 schema:affiliation https://www.grid.ac/institutes/grid.410914.9
    264 schema:familyName Lee
    265 schema:givenName Yeon-Su
    266 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01174621145.24
    267 rdf:type schema:Person
    268 sg:person.01176632551.07 schema:affiliation https://www.grid.ac/institutes/grid.412670.6
    269 schema:familyName Park
    270 schema:givenName Jong Hoon
    271 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01176632551.07
    272 rdf:type schema:Person
    273 sg:person.01204017114.51 schema:affiliation https://www.grid.ac/institutes/grid.15444.30
    274 schema:familyName Lyu
    275 schema:givenName Jaemyun
    276 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204017114.51
    277 rdf:type schema:Person
    278 sg:person.01224177441.49 schema:affiliation https://www.grid.ac/institutes/grid.415482.e
    279 schema:familyName Bae
    280 schema:givenName Jae-Bum
    281 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01224177441.49
    282 rdf:type schema:Person
    283 sg:person.01232364133.44 schema:affiliation https://www.grid.ac/institutes/grid.15444.30
    284 schema:familyName Kim
    285 schema:givenName Young-Joon
    286 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01232364133.44
    287 rdf:type schema:Person
    288 sg:person.01320245514.08 schema:affiliation https://www.grid.ac/institutes/grid.15444.30
    289 schema:familyName Lee
    290 schema:givenName Young-Gun
    291 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01320245514.08
    292 rdf:type schema:Person
    293 sg:person.01327670401.92 schema:affiliation https://www.grid.ac/institutes/grid.414642.1
    294 schema:familyName Hwang
    295 schema:givenName Young-Hwan
    296 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01327670401.92
    297 rdf:type schema:Person
    298 sg:person.0610726032.48 schema:affiliation https://www.grid.ac/institutes/grid.412670.6
    299 schema:familyName Park
    300 schema:givenName Eun Young
    301 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0610726032.48
    302 rdf:type schema:Person
    303 sg:pub.10.1007/s00018-007-7362-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1045753983
    304 https://doi.org/10.1007/s00018-007-7362-x
    305 rdf:type schema:CreativeWork
    306 sg:pub.10.1007/s004390050896 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014179124
    307 https://doi.org/10.1007/s004390050896
    308 rdf:type schema:CreativeWork
    309 sg:pub.10.1038/nature08514 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001394004
    310 https://doi.org/10.1038/nature08514
    311 rdf:type schema:CreativeWork
    312 sg:pub.10.1038/nature08924 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003145346
    313 https://doi.org/10.1038/nature08924
    314 rdf:type schema:CreativeWork
    315 sg:pub.10.1038/nature09544 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025187721
    316 https://doi.org/10.1038/nature09544
    317 rdf:type schema:CreativeWork
    318 sg:pub.10.1038/ng0395-312 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019388773
    319 https://doi.org/10.1038/ng0395-312
    320 rdf:type schema:CreativeWork
    321 sg:pub.10.1038/nm0308-246 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040070745
    322 https://doi.org/10.1038/nm0308-246
    323 rdf:type schema:CreativeWork
    324 sg:pub.10.1038/nprot.2007.314 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027408047
    325 https://doi.org/10.1038/nprot.2007.314
    326 rdf:type schema:CreativeWork
    327 sg:pub.10.1038/nrc1279 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009116910
    328 https://doi.org/10.1038/nrc1279
    329 rdf:type schema:CreativeWork
    330 sg:pub.10.1038/sj.ejhg.5200484 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003004303
    331 https://doi.org/10.1038/sj.ejhg.5200484
    332 rdf:type schema:CreativeWork
    333 sg:pub.10.1111/j.1523-1755.2005.00145.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1011440471
    334 https://doi.org/10.1111/j.1523-1755.2005.00145.x
    335 rdf:type schema:CreativeWork
    336 sg:pub.10.1186/1755-8794-4-82 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011376532
    337 https://doi.org/10.1186/1755-8794-4-82
    338 rdf:type schema:CreativeWork
    339 sg:pub.10.1186/bcr2416 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032396702
    340 https://doi.org/10.1186/bcr2416
    341 rdf:type schema:CreativeWork
    342 sg:pub.10.1186/gb-2003-4-5-p3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021292424
    343 https://doi.org/10.1186/gb-2003-4-5-p3
    344 rdf:type schema:CreativeWork
    345 sg:pub.10.1186/gb-2009-10-9-r89 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024974925
    346 https://doi.org/10.1186/gb-2009-10-9-r89
    347 rdf:type schema:CreativeWork
    348 sg:pub.10.1186/gb-2010-11-7-r70 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052882599
    349 https://doi.org/10.1186/gb-2010-11-7-r70
    350 rdf:type schema:CreativeWork
    351 https://doi.org/10.1016/j.bbadis.2010.09.016 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000226310
    352 rdf:type schema:CreativeWork
    353 https://doi.org/10.1016/j.bbadis.2010.10.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010747233
    354 rdf:type schema:CreativeWork
    355 https://doi.org/10.1016/j.bbadis.2010.10.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037780387
    356 rdf:type schema:CreativeWork
    357 https://doi.org/10.1016/j.cell.2007.01.029 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009285166
    358 rdf:type schema:CreativeWork
    359 https://doi.org/10.1016/j.juro.2008.04.137 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042869142
    360 rdf:type schema:CreativeWork
    361 https://doi.org/10.1016/j.semcdb.2010.08.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025996029
    362 rdf:type schema:CreativeWork
    363 https://doi.org/10.1016/s0092-8674(00)80439-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051102871
    364 rdf:type schema:CreativeWork
    365 https://doi.org/10.1016/s0092-8674(00)81793-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020543227
    366 rdf:type schema:CreativeWork
    367 https://doi.org/10.1016/s0092-8674(02)01084-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1005479566
    368 rdf:type schema:CreativeWork
    369 https://doi.org/10.1016/s0272-6386(96)90378-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029665599
    370 rdf:type schema:CreativeWork
    371 https://doi.org/10.1016/s1097-2765(00)00123-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035736569
    372 rdf:type schema:CreativeWork
    373 https://doi.org/10.1056/nejm199307293290508 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029778659
    374 rdf:type schema:CreativeWork
    375 https://doi.org/10.1073/pnas.84.17.6210 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002475227
    376 rdf:type schema:CreativeWork
    377 https://doi.org/10.1074/jbc.m700011200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012695025
    378 rdf:type schema:CreativeWork
    379 https://doi.org/10.1074/jbc.m805890200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040635302
    380 rdf:type schema:CreativeWork
    381 https://doi.org/10.1083/jcb.201006173 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050239972
    382 rdf:type schema:CreativeWork
    383 https://doi.org/10.1086/318188 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058622322
    384 rdf:type schema:CreativeWork
    385 https://doi.org/10.1093/hmg/9.3.447 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015743590
    386 rdf:type schema:CreativeWork
    387 https://doi.org/10.1093/hmg/ddh336 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027846672
    388 rdf:type schema:CreativeWork
    389 https://doi.org/10.1093/hmg/ddp165 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036161424
    390 rdf:type schema:CreativeWork
    391 https://doi.org/10.1093/hmg/ddq513 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010596206
    392 rdf:type schema:CreativeWork
    393 https://doi.org/10.1101/gr.118703.110 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004511130
    394 rdf:type schema:CreativeWork
    395 https://doi.org/10.1152/ajprenal.00310.2002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1063197512
    396 rdf:type schema:CreativeWork
    397 https://doi.org/10.1158/0008-5472.can-06-1888 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040337817
    398 rdf:type schema:CreativeWork
    399 https://doi.org/10.1172/jci119147 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047779182
    400 rdf:type schema:CreativeWork
    401 https://doi.org/10.1681/asn.2006121387 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003079996
    402 rdf:type schema:CreativeWork
    403 https://doi.org/10.1681/asn.2009090925 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046350010
    404 rdf:type schema:CreativeWork
    405 https://doi.org/10.2215/cjn.01360210 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016573495
    406 rdf:type schema:CreativeWork
    407 https://doi.org/10.2353/ajpath.2006.050342 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006555495
    408 rdf:type schema:CreativeWork
    409 https://doi.org/10.5483/bmbrep.2011.44.6.359 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029188650
    410 rdf:type schema:CreativeWork
    411 https://www.grid.ac/institutes/grid.15444.30 schema:alternateName Yonsei University
    412 schema:name Department of Integrated Omics, Yonsei University, 120-749, Seoul, Korea
    413 rdf:type schema:Organization
    414 https://www.grid.ac/institutes/grid.410914.9 schema:alternateName National Cancer Center
    415 schema:name Branch of Cancer Genomics, Research Institute, National Cancer Center, Goyang, Korea
    416 rdf:type schema:Organization
    417 https://www.grid.ac/institutes/grid.412670.6 schema:alternateName Sookmyung Women's University
    418 schema:name Department of Biological Science, Sookmyung Women’s University, 140-742, Seoul, Korea
    419 rdf:type schema:Organization
    420 https://www.grid.ac/institutes/grid.414642.1 schema:alternateName Eulji General Hospital
    421 schema:name Department of Internal Medicine, Eulji General Hospital, 139-892, Seoul, Korea
    422 rdf:type schema:Organization
    423 https://www.grid.ac/institutes/grid.415482.e schema:alternateName Korea National Institute of Health
    424 schema:name Department of Integrated Omics, Yonsei University, 120-749, Seoul, Korea
    425 Division of Structural and Functional Genomics, Center for Genome Sciences, Korea National Institute of Health, Seoul, Korea
    426 rdf:type schema:Organization
     




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


    ...