Fine-Mapping of Restless Legs Locus 4 (RLS4) Identifies a Haplotype over the SPATS2L and KCTD18 Genes View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2013-03

AUTHORS

Irene Pichler, Christine Schwienbacher, Alessandra Zanon, Christian Fuchsberger, Alice Serafin, Maurizio F. Facheris, Fabio Marroni, Cristian Pattaro, Yiping Shen, Christian Tellgren-Roth, Ulf Gyllensten, James F. Gusella, Andrew A. Hicks, Peter P. Pramstaller

ABSTRACT

Restless legs syndrome (RLS) is a sleep-related movement disorder that affects up to 15 % of the population. Linkage studies have identified several genomic loci in single families (12q, 14q, 9p, 2q, 20p and 16p, respectively). However, confirmation of these loci has not always been achieved, and causative mutations have not yet been identified. The locus on chromosome 2q33 (RLS4) was identified in two South Tyrolean families who shared a haplotype of microsatellite marker alleles across an 8.2-cM region. To pinpoint the gene localisation within RLS4, additional families from the same geographic region were evaluated, and linkage was replicated in one family. Within the candidate region, we initially found a haplotype of 23 single nucleotide polymorphism markers spanning 131.6 Kb shared by all affected members of the three linked families. Using a next generation sequencing approach, we further restricted the shared candidate region to 46.9 Kb over the potassium channel-related gene KCTD18 and exons 10-13 of SPATS2L. More... »

PAGES

600-605

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s12031-012-9891-5

DOI

http://dx.doi.org/10.1007/s12031-012-9891-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1053670511

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23054586


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": "Chromosome Mapping", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, Pair 2", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Comparative Genomic Hybridization", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Exons", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Markers", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Haplotypes", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "INDEL Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Lod Score", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Microsatellite Repeats", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Single Nucleotide", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Potassium Channels", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Restless Legs Syndrome", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sequence Analysis, DNA", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "European Academy of Bozen", 
          "id": "https://www.grid.ac/institutes/grid.418908.c", 
          "name": [
            "Center for Biomedicine, European Academy Bozen/Bolzano (EURAC) (Affiliated institute of the University of L\u00fcbeck), Drususallee 1, 39100, Bozen/Bolzano, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pichler", 
        "givenName": "Irene", 
        "id": "sg:person.01202643715.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01202643715.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Ferrara", 
          "id": "https://www.grid.ac/institutes/grid.8484.0", 
          "name": [
            "Center for Biomedicine, European Academy Bozen/Bolzano (EURAC) (Affiliated institute of the University of L\u00fcbeck), Drususallee 1, 39100, Bozen/Bolzano, Italy", 
            "Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schwienbacher", 
        "givenName": "Christine", 
        "id": "sg:person.0756472060.36", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0756472060.36"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "European Academy of Bozen", 
          "id": "https://www.grid.ac/institutes/grid.418908.c", 
          "name": [
            "Center for Biomedicine, European Academy Bozen/Bolzano (EURAC) (Affiliated institute of the University of L\u00fcbeck), Drususallee 1, 39100, Bozen/Bolzano, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zanon", 
        "givenName": "Alessandra", 
        "id": "sg:person.01331742124.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01331742124.21"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Michigan\u2013Ann Arbor", 
          "id": "https://www.grid.ac/institutes/grid.214458.e", 
          "name": [
            "Center for Statistical Genetics, University of Michigan, 48109, Ann Arbor, MI, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fuchsberger", 
        "givenName": "Christian", 
        "id": "sg:person.01337503212.77", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01337503212.77"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "European Academy of Bozen", 
          "id": "https://www.grid.ac/institutes/grid.418908.c", 
          "name": [
            "Center for Biomedicine, European Academy Bozen/Bolzano (EURAC) (Affiliated institute of the University of L\u00fcbeck), Drususallee 1, 39100, Bozen/Bolzano, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Serafin", 
        "givenName": "Alice", 
        "id": "sg:person.0747352254.07", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747352254.07"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "European Academy of Bozen", 
          "id": "https://www.grid.ac/institutes/grid.418908.c", 
          "name": [
            "Center for Biomedicine, European Academy Bozen/Bolzano (EURAC) (Affiliated institute of the University of L\u00fcbeck), Drususallee 1, 39100, Bozen/Bolzano, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Facheris", 
        "givenName": "Maurizio F.", 
        "id": "sg:person.01274542031.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01274542031.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Istituto di Genomica Applicata", 
          "id": "https://www.grid.ac/institutes/grid.452691.d", 
          "name": [
            "Institute of Applied Genomics, Udine, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Marroni", 
        "givenName": "Fabio", 
        "id": "sg:person.01141742270.34", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01141742270.34"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "European Academy of Bozen", 
          "id": "https://www.grid.ac/institutes/grid.418908.c", 
          "name": [
            "Center for Biomedicine, European Academy Bozen/Bolzano (EURAC) (Affiliated institute of the University of L\u00fcbeck), Drususallee 1, 39100, Bozen/Bolzano, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pattaro", 
        "givenName": "Cristian", 
        "id": "sg:person.01073627070.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01073627070.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Shanghai Jiao Tong University", 
          "id": "https://www.grid.ac/institutes/grid.16821.3c", 
          "name": [
            "Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA", 
            "Department of Laboratory Medicine, Children\u2019s Hospital Boston, Boston, MA, USA", 
            "Department of Pathology, Harvard Medical School, Boston, MA, USA", 
            "Shanghai Children\u2019s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shen", 
        "givenName": "Yiping", 
        "id": "sg:person.01237302754.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237302754.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Uppsala University", 
          "id": "https://www.grid.ac/institutes/grid.8993.b", 
          "name": [
            "Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, SciLifeLab Uppsala, Uppsala University, Uppsala, Sweden"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tellgren-Roth", 
        "givenName": "Christian", 
        "id": "sg:person.01103131751.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01103131751.55"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Uppsala University", 
          "id": "https://www.grid.ac/institutes/grid.8993.b", 
          "name": [
            "Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, SciLifeLab Uppsala, Uppsala University, Uppsala, Sweden"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gyllensten", 
        "givenName": "Ulf", 
        "id": "sg:person.0755334151.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755334151.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Harvard University", 
          "id": "https://www.grid.ac/institutes/grid.38142.3c", 
          "name": [
            "Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA", 
            "Department of Genetics, Harvard Medical School, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gusella", 
        "givenName": "James F.", 
        "id": "sg:person.012250725157.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012250725157.32"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "European Academy of Bozen", 
          "id": "https://www.grid.ac/institutes/grid.418908.c", 
          "name": [
            "Center for Biomedicine, European Academy Bozen/Bolzano (EURAC) (Affiliated institute of the University of L\u00fcbeck), Drususallee 1, 39100, Bozen/Bolzano, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hicks", 
        "givenName": "Andrew A.", 
        "id": "sg:person.01117411306.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117411306.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of L\u00fcbeck", 
          "id": "https://www.grid.ac/institutes/grid.4562.5", 
          "name": [
            "Center for Biomedicine, European Academy Bozen/Bolzano (EURAC) (Affiliated institute of the University of L\u00fcbeck), Drususallee 1, 39100, Bozen/Bolzano, Italy", 
            "Department of Neurology, General Central Hospital, Bolzano, Italy", 
            "Department of Neurology, University of L\u00fcbeck, L\u00fcbeck, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pramstaller", 
        "givenName": "Peter P.", 
        "id": "sg:person.01206221725.56", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01206221725.56"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/j.smrv.2011.05.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003561644"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1389-9457(03)00010-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019199147"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1389-9457(03)00010-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019199147"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.190", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026411789", 
          "https://doi.org/10.1038/ng.190"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejmoa072743", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031414693"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng2099", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040391330", 
          "https://doi.org/10.1038/ng2099"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng786", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041343500", 
          "https://doi.org/10.1038/ng786"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng786", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041343500", 
          "https://doi.org/10.1038/ng786"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/mds.22263", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042331998"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/awg137", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048096771"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pgen.1002171", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049228604"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/mds.20922", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050219197"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1471-2350-8-29", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050940295", 
          "https://doi.org/10.1186/1471-2350-8-29"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/324649", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058624595"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/420772", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058711772"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/507875", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058786051"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000233991.20410.b6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064348459"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000233991.20410.b6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064348459"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000233991.20410.b6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064348459"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082894760", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2013-03", 
    "datePublishedReg": "2013-03-01", 
    "description": "Restless legs syndrome (RLS) is a sleep-related movement disorder that affects up to 15 % of the population. Linkage studies have identified several genomic loci in single families (12q, 14q, 9p, 2q, 20p and 16p, respectively). However, confirmation of these loci has not always been achieved, and causative mutations have not yet been identified. The locus on chromosome 2q33 (RLS4) was identified in two South Tyrolean families who shared a haplotype of microsatellite marker alleles across an 8.2-cM region. To pinpoint the gene localisation within RLS4, additional families from the same geographic region were evaluated, and linkage was replicated in one family. Within the candidate region, we initially found a haplotype of 23 single nucleotide polymorphism markers spanning 131.6 Kb shared by all affected members of the three linked families. Using a next generation sequencing approach, we further restricted the shared candidate region to 46.9 Kb over the potassium channel-related gene KCTD18 and exons 10-13 of SPATS2L.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s12031-012-9891-5", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1094289", 
        "issn": [
          "0895-8696", 
          "2168-8729"
        ], 
        "name": "Journal of Molecular Neuroscience", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "3", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "49"
      }
    ], 
    "name": "Fine-Mapping of Restless Legs Locus 4 (RLS4) Identifies a Haplotype over the SPATS2L and KCTD18 Genes", 
    "pagination": "600-605", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "ffa3b30c78fd29ac2b8a74d9d0571940cbb2339ea84c3ff45fe2f2cb95cf5fd5"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "23054586"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9002991"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s12031-012-9891-5"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1053670511"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s12031-012-9891-5", 
      "https://app.dimensions.ai/details/publication/pub.1053670511"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T18:23", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8675_00000524.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1007%2Fs12031-012-9891-5"
  }
]
 

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/s12031-012-9891-5'

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/s12031-012-9891-5'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s12031-012-9891-5'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s12031-012-9891-5'


 

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

311 TRIPLES      21 PREDICATES      63 URIs      39 LITERALS      27 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s12031-012-9891-5 schema:about N00ec3f161dc9459eb425c943307a8d72
2 N034df9f0c93048958688be3044f845da
3 N1bdd63e139c84c948c4508b546e9bcb8
4 N2d6e7f42b91d4ab8a62575dda3526064
5 N3be0a7beafc7455bb4faadc2f241e83e
6 N4ec157e7258d4abbbb4ae07217a2e481
7 N4edd603425a341e4944c7bc22cdef0b4
8 N5d7d015016ac4ce5897ad1cc9fb837fe
9 N6f8a4f4903f7488cb0853caa10654d40
10 N7fe30c1beaab484e888c15aa6772a006
11 N8930d7efceca49868c9f6cfea63e6f86
12 N9042e21f62a244aa9c05edecd9eabdde
13 N90dff694c2b84323aab3b3e023879f8d
14 N912d374dbe3649e680b7b3cde378c467
15 N973d39f50a3b46f5ae72f239dbd66ae0
16 Nd3fbc2e8849a4a2588f92c055ee4ae72
17 Nd8d65c1edb4d466db416838cf227f432
18 Nf360743b705549cea03c614bb27f57e6
19 anzsrc-for:06
20 anzsrc-for:0604
21 schema:author Nd79389e7cf0245829ff1f30586c5022b
22 schema:citation sg:pub.10.1038/ng.190
23 sg:pub.10.1038/ng2099
24 sg:pub.10.1038/ng786
25 sg:pub.10.1186/1471-2350-8-29
26 https://app.dimensions.ai/details/publication/pub.1082894760
27 https://doi.org/10.1002/mds.20922
28 https://doi.org/10.1002/mds.22263
29 https://doi.org/10.1016/j.smrv.2011.05.002
30 https://doi.org/10.1016/s1389-9457(03)00010-8
31 https://doi.org/10.1056/nejmoa072743
32 https://doi.org/10.1086/324649
33 https://doi.org/10.1086/420772
34 https://doi.org/10.1086/507875
35 https://doi.org/10.1093/brain/awg137
36 https://doi.org/10.1212/01.wnl.0000233991.20410.b6
37 https://doi.org/10.1371/journal.pgen.1002171
38 schema:datePublished 2013-03
39 schema:datePublishedReg 2013-03-01
40 schema:description Restless legs syndrome (RLS) is a sleep-related movement disorder that affects up to 15 % of the population. Linkage studies have identified several genomic loci in single families (12q, 14q, 9p, 2q, 20p and 16p, respectively). However, confirmation of these loci has not always been achieved, and causative mutations have not yet been identified. The locus on chromosome 2q33 (RLS4) was identified in two South Tyrolean families who shared a haplotype of microsatellite marker alleles across an 8.2-cM region. To pinpoint the gene localisation within RLS4, additional families from the same geographic region were evaluated, and linkage was replicated in one family. Within the candidate region, we initially found a haplotype of 23 single nucleotide polymorphism markers spanning 131.6 Kb shared by all affected members of the three linked families. Using a next generation sequencing approach, we further restricted the shared candidate region to 46.9 Kb over the potassium channel-related gene KCTD18 and exons 10-13 of SPATS2L.
41 schema:genre research_article
42 schema:inLanguage en
43 schema:isAccessibleForFree false
44 schema:isPartOf N68f8afb0811c4f95b41edd26982bd80d
45 Nc0007f81a04f41f7945dcecb42eb9fd3
46 sg:journal.1094289
47 schema:name Fine-Mapping of Restless Legs Locus 4 (RLS4) Identifies a Haplotype over the SPATS2L and KCTD18 Genes
48 schema:pagination 600-605
49 schema:productId N0161c8ae224a453782cb4f6b7b4b870a
50 N1632c791ca414bad922c17c79d5e4af5
51 N5ab659b876c947f58b84d6e2ec282aaf
52 N8e738f46a95f423ba735453eefcae753
53 N8fc47ef275f647c0b7ad158d66ad5cd3
54 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053670511
55 https://doi.org/10.1007/s12031-012-9891-5
56 schema:sdDatePublished 2019-04-10T18:23
57 schema:sdLicense https://scigraph.springernature.com/explorer/license/
58 schema:sdPublisher N97052f6d0295435396d55c0c008bef9c
59 schema:url http://link.springer.com/10.1007%2Fs12031-012-9891-5
60 sgo:license sg:explorer/license/
61 sgo:sdDataset articles
62 rdf:type schema:ScholarlyArticle
63 N002cbb6f5f4c4098b70627eef8f10774 rdf:first sg:person.01117411306.52
64 rdf:rest N783cf156971842b888fae4eca1bdbaf2
65 N00ec3f161dc9459eb425c943307a8d72 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
66 schema:name Sequence Analysis, DNA
67 rdf:type schema:DefinedTerm
68 N0161c8ae224a453782cb4f6b7b4b870a schema:name readcube_id
69 schema:value ffa3b30c78fd29ac2b8a74d9d0571940cbb2339ea84c3ff45fe2f2cb95cf5fd5
70 rdf:type schema:PropertyValue
71 N034df9f0c93048958688be3044f845da schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
72 schema:name Genetic Markers
73 rdf:type schema:DefinedTerm
74 N077468d5a28741fc8e7e7302907c5516 rdf:first sg:person.01073627070.31
75 rdf:rest N564f1bc26e7149b39c88f5872ef39998
76 N0996b9b87078422f94b4bc91f3f1d4da rdf:first sg:person.0755334151.48
77 rdf:rest N56ae0c0508034588894d3cd71542d963
78 N1632c791ca414bad922c17c79d5e4af5 schema:name dimensions_id
79 schema:value pub.1053670511
80 rdf:type schema:PropertyValue
81 N1bdd63e139c84c948c4508b546e9bcb8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
82 schema:name Pedigree
83 rdf:type schema:DefinedTerm
84 N275d32313d694188a0e4394d4bdac18f rdf:first sg:person.0747352254.07
85 rdf:rest Nd2f2f624b7dc469699576fa809133ad5
86 N2d6e7f42b91d4ab8a62575dda3526064 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
87 schema:name Polymorphism, Single Nucleotide
88 rdf:type schema:DefinedTerm
89 N3be0a7beafc7455bb4faadc2f241e83e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
90 schema:name Restless Legs Syndrome
91 rdf:type schema:DefinedTerm
92 N4ec157e7258d4abbbb4ae07217a2e481 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
93 schema:name Potassium Channels
94 rdf:type schema:DefinedTerm
95 N4edd603425a341e4944c7bc22cdef0b4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
96 schema:name Chromosomes, Human, Pair 2
97 rdf:type schema:DefinedTerm
98 N564f1bc26e7149b39c88f5872ef39998 rdf:first sg:person.01237302754.49
99 rdf:rest N9015e29dc9a840aba6d74d52fac690d0
100 N567961a45bd94212922ab419d884eb37 rdf:first sg:person.0756472060.36
101 rdf:rest N9ac5b77811c54ba7ae6ca19d1e4c653b
102 N56ae0c0508034588894d3cd71542d963 rdf:first sg:person.012250725157.32
103 rdf:rest N002cbb6f5f4c4098b70627eef8f10774
104 N5ab659b876c947f58b84d6e2ec282aaf schema:name nlm_unique_id
105 schema:value 9002991
106 rdf:type schema:PropertyValue
107 N5d7d015016ac4ce5897ad1cc9fb837fe schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
108 schema:name Lod Score
109 rdf:type schema:DefinedTerm
110 N68f8afb0811c4f95b41edd26982bd80d schema:volumeNumber 49
111 rdf:type schema:PublicationVolume
112 N6f8a4f4903f7488cb0853caa10654d40 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
113 schema:name Chromosome Mapping
114 rdf:type schema:DefinedTerm
115 N783cf156971842b888fae4eca1bdbaf2 rdf:first sg:person.01206221725.56
116 rdf:rest rdf:nil
117 N7fe30c1beaab484e888c15aa6772a006 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
118 schema:name INDEL Mutation
119 rdf:type schema:DefinedTerm
120 N8930d7efceca49868c9f6cfea63e6f86 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
121 schema:name Female
122 rdf:type schema:DefinedTerm
123 N8e738f46a95f423ba735453eefcae753 schema:name pubmed_id
124 schema:value 23054586
125 rdf:type schema:PropertyValue
126 N8fc47ef275f647c0b7ad158d66ad5cd3 schema:name doi
127 schema:value 10.1007/s12031-012-9891-5
128 rdf:type schema:PropertyValue
129 N9015e29dc9a840aba6d74d52fac690d0 rdf:first sg:person.01103131751.55
130 rdf:rest N0996b9b87078422f94b4bc91f3f1d4da
131 N9042e21f62a244aa9c05edecd9eabdde schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
132 schema:name Haplotypes
133 rdf:type schema:DefinedTerm
134 N90dff694c2b84323aab3b3e023879f8d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
135 schema:name Microsatellite Repeats
136 rdf:type schema:DefinedTerm
137 N912d374dbe3649e680b7b3cde378c467 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
138 schema:name Male
139 rdf:type schema:DefinedTerm
140 N97052f6d0295435396d55c0c008bef9c schema:name Springer Nature - SN SciGraph project
141 rdf:type schema:Organization
142 N973d39f50a3b46f5ae72f239dbd66ae0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
143 schema:name Humans
144 rdf:type schema:DefinedTerm
145 N9ac5b77811c54ba7ae6ca19d1e4c653b rdf:first sg:person.01331742124.21
146 rdf:rest Nbf572812bdad49d7945e3f93f53b6023
147 Nbf572812bdad49d7945e3f93f53b6023 rdf:first sg:person.01337503212.77
148 rdf:rest N275d32313d694188a0e4394d4bdac18f
149 Nc0007f81a04f41f7945dcecb42eb9fd3 schema:issueNumber 3
150 rdf:type schema:PublicationIssue
151 Nd2f2f624b7dc469699576fa809133ad5 rdf:first sg:person.01274542031.48
152 rdf:rest Nfdfba86202bc4fd6ad1ab219c81885d7
153 Nd3fbc2e8849a4a2588f92c055ee4ae72 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
154 schema:name Exons
155 rdf:type schema:DefinedTerm
156 Nd79389e7cf0245829ff1f30586c5022b rdf:first sg:person.01202643715.58
157 rdf:rest N567961a45bd94212922ab419d884eb37
158 Nd8d65c1edb4d466db416838cf227f432 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
159 schema:name Proteins
160 rdf:type schema:DefinedTerm
161 Nf360743b705549cea03c614bb27f57e6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
162 schema:name Comparative Genomic Hybridization
163 rdf:type schema:DefinedTerm
164 Nfdfba86202bc4fd6ad1ab219c81885d7 rdf:first sg:person.01141742270.34
165 rdf:rest N077468d5a28741fc8e7e7302907c5516
166 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
167 schema:name Biological Sciences
168 rdf:type schema:DefinedTerm
169 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
170 schema:name Genetics
171 rdf:type schema:DefinedTerm
172 sg:journal.1094289 schema:issn 0895-8696
173 2168-8729
174 schema:name Journal of Molecular Neuroscience
175 rdf:type schema:Periodical
176 sg:person.01073627070.31 schema:affiliation https://www.grid.ac/institutes/grid.418908.c
177 schema:familyName Pattaro
178 schema:givenName Cristian
179 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01073627070.31
180 rdf:type schema:Person
181 sg:person.01103131751.55 schema:affiliation https://www.grid.ac/institutes/grid.8993.b
182 schema:familyName Tellgren-Roth
183 schema:givenName Christian
184 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01103131751.55
185 rdf:type schema:Person
186 sg:person.01117411306.52 schema:affiliation https://www.grid.ac/institutes/grid.418908.c
187 schema:familyName Hicks
188 schema:givenName Andrew A.
189 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117411306.52
190 rdf:type schema:Person
191 sg:person.01141742270.34 schema:affiliation https://www.grid.ac/institutes/grid.452691.d
192 schema:familyName Marroni
193 schema:givenName Fabio
194 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01141742270.34
195 rdf:type schema:Person
196 sg:person.01202643715.58 schema:affiliation https://www.grid.ac/institutes/grid.418908.c
197 schema:familyName Pichler
198 schema:givenName Irene
199 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01202643715.58
200 rdf:type schema:Person
201 sg:person.01206221725.56 schema:affiliation https://www.grid.ac/institutes/grid.4562.5
202 schema:familyName Pramstaller
203 schema:givenName Peter P.
204 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01206221725.56
205 rdf:type schema:Person
206 sg:person.012250725157.32 schema:affiliation https://www.grid.ac/institutes/grid.38142.3c
207 schema:familyName Gusella
208 schema:givenName James F.
209 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012250725157.32
210 rdf:type schema:Person
211 sg:person.01237302754.49 schema:affiliation https://www.grid.ac/institutes/grid.16821.3c
212 schema:familyName Shen
213 schema:givenName Yiping
214 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237302754.49
215 rdf:type schema:Person
216 sg:person.01274542031.48 schema:affiliation https://www.grid.ac/institutes/grid.418908.c
217 schema:familyName Facheris
218 schema:givenName Maurizio F.
219 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01274542031.48
220 rdf:type schema:Person
221 sg:person.01331742124.21 schema:affiliation https://www.grid.ac/institutes/grid.418908.c
222 schema:familyName Zanon
223 schema:givenName Alessandra
224 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01331742124.21
225 rdf:type schema:Person
226 sg:person.01337503212.77 schema:affiliation https://www.grid.ac/institutes/grid.214458.e
227 schema:familyName Fuchsberger
228 schema:givenName Christian
229 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01337503212.77
230 rdf:type schema:Person
231 sg:person.0747352254.07 schema:affiliation https://www.grid.ac/institutes/grid.418908.c
232 schema:familyName Serafin
233 schema:givenName Alice
234 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0747352254.07
235 rdf:type schema:Person
236 sg:person.0755334151.48 schema:affiliation https://www.grid.ac/institutes/grid.8993.b
237 schema:familyName Gyllensten
238 schema:givenName Ulf
239 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755334151.48
240 rdf:type schema:Person
241 sg:person.0756472060.36 schema:affiliation https://www.grid.ac/institutes/grid.8484.0
242 schema:familyName Schwienbacher
243 schema:givenName Christine
244 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0756472060.36
245 rdf:type schema:Person
246 sg:pub.10.1038/ng.190 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026411789
247 https://doi.org/10.1038/ng.190
248 rdf:type schema:CreativeWork
249 sg:pub.10.1038/ng2099 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040391330
250 https://doi.org/10.1038/ng2099
251 rdf:type schema:CreativeWork
252 sg:pub.10.1038/ng786 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041343500
253 https://doi.org/10.1038/ng786
254 rdf:type schema:CreativeWork
255 sg:pub.10.1186/1471-2350-8-29 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050940295
256 https://doi.org/10.1186/1471-2350-8-29
257 rdf:type schema:CreativeWork
258 https://app.dimensions.ai/details/publication/pub.1082894760 schema:CreativeWork
259 https://doi.org/10.1002/mds.20922 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050219197
260 rdf:type schema:CreativeWork
261 https://doi.org/10.1002/mds.22263 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042331998
262 rdf:type schema:CreativeWork
263 https://doi.org/10.1016/j.smrv.2011.05.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003561644
264 rdf:type schema:CreativeWork
265 https://doi.org/10.1016/s1389-9457(03)00010-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019199147
266 rdf:type schema:CreativeWork
267 https://doi.org/10.1056/nejmoa072743 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031414693
268 rdf:type schema:CreativeWork
269 https://doi.org/10.1086/324649 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058624595
270 rdf:type schema:CreativeWork
271 https://doi.org/10.1086/420772 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058711772
272 rdf:type schema:CreativeWork
273 https://doi.org/10.1086/507875 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058786051
274 rdf:type schema:CreativeWork
275 https://doi.org/10.1093/brain/awg137 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048096771
276 rdf:type schema:CreativeWork
277 https://doi.org/10.1212/01.wnl.0000233991.20410.b6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064348459
278 rdf:type schema:CreativeWork
279 https://doi.org/10.1371/journal.pgen.1002171 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049228604
280 rdf:type schema:CreativeWork
281 https://www.grid.ac/institutes/grid.16821.3c schema:alternateName Shanghai Jiao Tong University
282 schema:name Department of Laboratory Medicine, Children’s Hospital Boston, Boston, MA, USA
283 Department of Pathology, Harvard Medical School, Boston, MA, USA
284 Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA
285 Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China
286 rdf:type schema:Organization
287 https://www.grid.ac/institutes/grid.214458.e schema:alternateName University of Michigan–Ann Arbor
288 schema:name Center for Statistical Genetics, University of Michigan, 48109, Ann Arbor, MI, USA
289 rdf:type schema:Organization
290 https://www.grid.ac/institutes/grid.38142.3c schema:alternateName Harvard University
291 schema:name Department of Genetics, Harvard Medical School, Boston, MA, USA
292 Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA
293 rdf:type schema:Organization
294 https://www.grid.ac/institutes/grid.418908.c schema:alternateName European Academy of Bozen
295 schema:name Center for Biomedicine, European Academy Bozen/Bolzano (EURAC) (Affiliated institute of the University of Lübeck), Drususallee 1, 39100, Bozen/Bolzano, Italy
296 rdf:type schema:Organization
297 https://www.grid.ac/institutes/grid.452691.d schema:alternateName Istituto di Genomica Applicata
298 schema:name Institute of Applied Genomics, Udine, Italy
299 rdf:type schema:Organization
300 https://www.grid.ac/institutes/grid.4562.5 schema:alternateName University of Lübeck
301 schema:name Center for Biomedicine, European Academy Bozen/Bolzano (EURAC) (Affiliated institute of the University of Lübeck), Drususallee 1, 39100, Bozen/Bolzano, Italy
302 Department of Neurology, General Central Hospital, Bolzano, Italy
303 Department of Neurology, University of Lübeck, Lübeck, Germany
304 rdf:type schema:Organization
305 https://www.grid.ac/institutes/grid.8484.0 schema:alternateName University of Ferrara
306 schema:name Center for Biomedicine, European Academy Bozen/Bolzano (EURAC) (Affiliated institute of the University of Lübeck), Drususallee 1, 39100, Bozen/Bolzano, Italy
307 Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy
308 rdf:type schema:Organization
309 https://www.grid.ac/institutes/grid.8993.b schema:alternateName Uppsala University
310 schema:name Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, SciLifeLab Uppsala, Uppsala University, Uppsala, Sweden
311 rdf:type schema:Organization
 




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


...