Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-11-14

AUTHORS

A. Hammarsjö, Z. Wang, R. Vaz, F. Taylan, M. Sedghi, K. M. Girisha, D. Chitayat, K. Neethukrishna, P. Shannon, R. Godoy, K. Gowrishankar, A. Lindstrand, J. Nasiri, M. Baktashian, P. T. Newton, L. Guo, W. Hofmeister, M. Pettersson, A. S. Chagin, G. Nishimura, L. Yan, N. Matsumoto, A. Nordgren, N. Miyake, G. Grigelioniene, S. Ikegawa

ABSTRACT

The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 genes have been identified in association with skeletal ciliopathies. Mutations in the KIAA0753 gene have recently been associated with Joubert syndrome (JBTS) and orofaciodigital (OFD) syndrome. We report biallelic pathogenic variants in KIAA0753 in four patients with short-rib type skeletal dysplasia. The manifestations in our patients are variable and ranging from fetal lethal to viable and moderate skeletal dysplasia with narrow thorax and abnormal metaphyses. We demonstrate that KIAA0753 is expressed in normal fetal human growth plate and show that the affected fetus, with a compound heterozygous frameshift and a nonsense mutation in KIAA0753, has an abnormal proliferative zone and a broad hypertrophic zone. The importance of KIAA0753 for normal skeletal development is further confirmed by our findings that zebrafish embryos homozygous for a nonsense mutation in kiaa0753 display altered cartilage patterning. More... »

PAGES

15585

Journal

TITLE

Scientific Reports

ISSUE

1

VOLUME

7

Author Affiliations

  • Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
  • Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China
  • Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
  • Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
  • Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
  • Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario Canada
  • Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario Canada
  • The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario Canada
  • Medical Genetics, Kanchi Kamakoti Childs Trust Hospital, Chennai Tamilnadu, India
  • Department of Pediatric Neurology, Faculty of Medicine, Child Growth and Development Research Center, Isfahan University of Medical sciences, Isfahan, Iran
  • Student Research Committee, Department of Modern Sciences and Technologies, Faculty of medicine, Mashhad University of Medical Sciences, Mashhad, Iran
  • Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden
  • Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan
  • Intractable Disease Center, Saitama University Hospital, Saitama, Japan
  • Department of Neurology, China-Japan Friendship Hospital, Beijing, China
  • Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41598-017-15442-1

    DOI

    http://dx.doi.org/10.1038/s41598-017-15442-1

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1092599573

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29138412


    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/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "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"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Abnormalities, Multiple", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cerebellum", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Child", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Child, Preschool", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Ciliopathies", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Eye Abnormalities", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Predisposition to Disease", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Homozygote", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Infant", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Kidney Diseases, Cystic", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Microtubule-Associated Proteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Muscle, Skeletal", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mutation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Orofaciodigital Syndromes", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Pedigree", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Phenotype", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Retina", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden", 
              "id": "http://www.grid.ac/institutes/grid.24381.3c", 
              "name": [
                "Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden", 
                "Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hammarsj\u00f6", 
            "givenName": "A.", 
            "id": "sg:person.01007713575.59", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01007713575.59"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China", 
              "id": "http://www.grid.ac/institutes/grid.506261.6", 
              "name": [
                "Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan", 
                "Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wang", 
            "givenName": "Z.", 
            "id": "sg:person.01175555417.08", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01175555417.08"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden", 
              "id": "http://www.grid.ac/institutes/grid.4714.6", 
              "name": [
                "Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Vaz", 
            "givenName": "R.", 
            "id": "sg:person.0624652442.62", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0624652442.62"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden", 
              "id": "http://www.grid.ac/institutes/grid.4714.6", 
              "name": [
                "Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Taylan", 
            "givenName": "F.", 
            "id": "sg:person.0761600343.21", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0761600343.21"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran", 
              "id": "http://www.grid.ac/institutes/grid.411036.1", 
              "name": [
                "Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Sedghi", 
            "givenName": "M.", 
            "id": "sg:person.0731056376.40", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0731056376.40"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Girisha", 
            "givenName": "K. M.", 
            "id": "sg:person.0764126607.90", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0764126607.90"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario Canada", 
              "id": "http://www.grid.ac/institutes/grid.17063.33", 
              "name": [
                "The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario Canada", 
                "Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario Canada"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chitayat", 
            "givenName": "D.", 
            "id": "sg:person.01220366033.14", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01220366033.14"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Neethukrishna", 
            "givenName": "K.", 
            "id": "sg:person.01345345355.70", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01345345355.70"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario Canada", 
              "id": "http://www.grid.ac/institutes/grid.17063.33", 
              "name": [
                "Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario Canada"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Shannon", 
            "givenName": "P.", 
            "id": "sg:person.01211043147.75", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01211043147.75"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario Canada", 
              "id": "http://www.grid.ac/institutes/grid.17063.33", 
              "name": [
                "The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario Canada"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Godoy", 
            "givenName": "R.", 
            "id": "sg:person.016030551347.68", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016030551347.68"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Medical Genetics, Kanchi Kamakoti Childs Trust Hospital, Chennai Tamilnadu, India", 
              "id": "http://www.grid.ac/institutes/grid.412931.c", 
              "name": [
                "Medical Genetics, Kanchi Kamakoti Childs Trust Hospital, Chennai Tamilnadu, India"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gowrishankar", 
            "givenName": "K.", 
            "id": "sg:person.01010643645.80", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01010643645.80"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden", 
              "id": "http://www.grid.ac/institutes/grid.24381.3c", 
              "name": [
                "Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden", 
                "Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lindstrand", 
            "givenName": "A.", 
            "id": "sg:person.0607636765.37", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0607636765.37"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Pediatric Neurology, Faculty of Medicine, Child Growth and Development Research Center, Isfahan University of Medical sciences, Isfahan, Iran", 
              "id": "http://www.grid.ac/institutes/grid.411036.1", 
              "name": [
                "Department of Pediatric Neurology, Faculty of Medicine, Child Growth and Development Research Center, Isfahan University of Medical sciences, Isfahan, Iran"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nasiri", 
            "givenName": "J.", 
            "id": "sg:person.0701461535.65", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701461535.65"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Student Research Committee, Department of Modern Sciences and Technologies, Faculty of medicine, Mashhad University of Medical Sciences, Mashhad, Iran", 
              "id": "http://www.grid.ac/institutes/grid.411583.a", 
              "name": [
                "Student Research Committee, Department of Modern Sciences and Technologies, Faculty of medicine, Mashhad University of Medical Sciences, Mashhad, Iran"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Baktashian", 
            "givenName": "M.", 
            "id": "sg:person.01333671255.87", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333671255.87"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden", 
              "id": "http://www.grid.ac/institutes/grid.4714.6", 
              "name": [
                "Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Newton", 
            "givenName": "P. T.", 
            "id": "sg:person.01045102311.84", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01045102311.84"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan", 
              "id": "http://www.grid.ac/institutes/grid.509459.4", 
              "name": [
                "Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Guo", 
            "givenName": "L.", 
            "id": "sg:person.07772501441.69", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07772501441.69"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden", 
              "id": "http://www.grid.ac/institutes/grid.4714.6", 
              "name": [
                "Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hofmeister", 
            "givenName": "W.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden", 
              "id": "http://www.grid.ac/institutes/grid.24381.3c", 
              "name": [
                "Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden", 
                "Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pettersson", 
            "givenName": "M.", 
            "id": "sg:person.01372450510.27", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01372450510.27"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden", 
              "id": "http://www.grid.ac/institutes/grid.4714.6", 
              "name": [
                "Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chagin", 
            "givenName": "A. S.", 
            "id": "sg:person.0715052055.54", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0715052055.54"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Intractable Disease Center, Saitama University Hospital, Saitama, Japan", 
              "id": "http://www.grid.ac/institutes/grid.263023.6", 
              "name": [
                "Intractable Disease Center, Saitama University Hospital, Saitama, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nishimura", 
            "givenName": "G.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, China-Japan Friendship Hospital, Beijing, China", 
              "id": "http://www.grid.ac/institutes/grid.415954.8", 
              "name": [
                "Department of Neurology, China-Japan Friendship Hospital, Beijing, China"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Yan", 
            "givenName": "L.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan", 
              "id": "http://www.grid.ac/institutes/grid.268441.d", 
              "name": [
                "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Matsumoto", 
            "givenName": "N.", 
            "id": "sg:person.01020376771.12", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01020376771.12"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden", 
              "id": "http://www.grid.ac/institutes/grid.24381.3c", 
              "name": [
                "Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden", 
                "Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nordgren", 
            "givenName": "A.", 
            "id": "sg:person.01142046575.02", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01142046575.02"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan", 
              "id": "http://www.grid.ac/institutes/grid.268441.d", 
              "name": [
                "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Miyake", 
            "givenName": "N.", 
            "id": "sg:person.01027727764.75", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027727764.75"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden", 
              "id": "http://www.grid.ac/institutes/grid.24381.3c", 
              "name": [
                "Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden", 
                "Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Grigelioniene", 
            "givenName": "G.", 
            "id": "sg:person.0762003625.89", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0762003625.89"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan", 
              "id": "http://www.grid.ac/institutes/grid.509459.4", 
              "name": [
                "Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ikegawa", 
            "givenName": "S.", 
            "id": "sg:person.0602347562.52", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602347562.52"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/srep24083", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051506229", 
              "https://doi.org/10.1038/srep24083"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrm2278", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1053367126", 
              "https://doi.org/10.1038/nrm2278"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2892", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050728268", 
              "https://doi.org/10.1038/ng.2892"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/srep34232", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021155262", 
              "https://doi.org/10.1038/srep34232"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/jhg.2017.65", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1086035056", 
              "https://doi.org/10.1038/jhg.2017.65"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrm.2017.60", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1090609634", 
              "https://doi.org/10.1038/nrm.2017.60"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/jhg.2017.35", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1084128239", 
              "https://doi.org/10.1038/jhg.2017.35"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00439-017-1765-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1083851980", 
              "https://doi.org/10.1007/s00439-017-1765-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1892", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036669448", 
              "https://doi.org/10.1038/ng1892"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/jhg.2016.157", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1074195767", 
              "https://doi.org/10.1038/jhg.2016.157"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2017-11-14", 
        "datePublishedReg": "2017-11-14", 
        "description": "The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 genes have been identified in association with skeletal ciliopathies. Mutations in the KIAA0753 gene have recently been associated with Joubert syndrome\u00a0(JBTS) and orofaciodigital (OFD) syndrome. We report biallelic pathogenic variants in KIAA0753 in four patients with short-rib type skeletal dysplasia. The manifestations in our patients are variable and ranging from fetal lethal to viable and moderate skeletal dysplasia with narrow thorax and abnormal metaphyses. We demonstrate that KIAA0753 is expressed in normal fetal human growth plate and show that the affected fetus, with a compound heterozygous frameshift and a nonsense mutation in KIAA0753, has an abnormal proliferative zone and a broad hypertrophic zone. The importance of KIAA0753 for normal skeletal development is further confirmed by our findings that zebrafish embryos homozygous for a nonsense mutation in kiaa0753 display altered cartilage patterning.", 
        "genre": "article", 
        "id": "sg:pub.10.1038/s41598-017-15442-1", 
        "inLanguage": "en", 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.6842132", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.5907324", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1045337", 
            "issn": [
              "2045-2322"
            ], 
            "name": "Scientific Reports", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "1", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "7"
          }
        ], 
        "keywords": [
          "skeletal ciliopathies", 
          "nonsense mutation", 
          "normal skeletal development", 
          "cartilage patterning", 
          "Joubert syndrome", 
          "zebrafish embryos", 
          "genetic variability", 
          "KIAA0753", 
          "skeletal development", 
          "ciliopathies", 
          "mutations", 
          "skeletal dysplasia", 
          "genes", 
          "abnormal metaphyses", 
          "human growth plate", 
          "orofaciodigital syndrome", 
          "proliferative zone", 
          "pathogenic variants", 
          "hypertrophic zone", 
          "biallelic pathogenic variants", 
          "embryos", 
          "frameshift", 
          "growth plate", 
          "phenotype", 
          "patterning", 
          "heterogeneous group", 
          "variants", 
          "narrow thorax", 
          "main clinical features", 
          "zone", 
          "variability", 
          "short tubular bones", 
          "development", 
          "importance", 
          "clinical features", 
          "date", 
          "tubular bones", 
          "association", 
          "patients", 
          "syndrome", 
          "dysplasia", 
          "findings", 
          "display", 
          "disorders", 
          "hypoplasia", 
          "thorax", 
          "features", 
          "bone", 
          "fetuses", 
          "group", 
          "metaphyses", 
          "manifestations", 
          "plate", 
          "KIAA0753 gene", 
          "short-rib type skeletal dysplasia", 
          "type skeletal dysplasia", 
          "moderate skeletal dysplasia", 
          "normal fetal human growth plate", 
          "fetal human growth plate", 
          "compound heterozygous frameshift", 
          "heterozygous frameshift", 
          "abnormal proliferative zone", 
          "broad hypertrophic zone", 
          "importance of KIAA0753", 
          "kiaa0753 display", 
          "Novel KIAA0753 mutations", 
          "KIAA0753 mutations"
        ], 
        "name": "Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies", 
        "pagination": "15585", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1092599573"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/s41598-017-15442-1"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "29138412"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/s41598-017-15442-1", 
          "https://app.dimensions.ai/details/publication/pub.1092599573"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2021-12-01T19:39", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20211201/entities/gbq_results/article/article_729.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1038/s41598-017-15442-1"
      }
    ]
     

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

    HOW TO GET THIS DATA PROGRAMMATICALLY:

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

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/s41598-017-15442-1'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41598-017-15442-1'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41598-017-15442-1'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41598-017-15442-1'


     

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

    467 TRIPLES      22 PREDICATES      123 URIs      105 LITERALS      27 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/s41598-017-15442-1 schema:about N08a0ceb837d34d9dac0ebdf81b328032
    2 N118ada9dbd564043bf7a829a56ceda51
    3 N1236af1698de48f3b651ff6dbe729f50
    4 N1586e8a7ab3048bea2a9173ca8e91a2e
    5 N1b0d8e6a374e4b24971bfffe28d1db35
    6 N254b375602dc421fbaf10dbf33add7cd
    7 N5023465042294bf9b8e5ae90b702aab7
    8 N54a2a0eb0c474812965c4985afe2f82f
    9 N5d09a22ef96d453a8dc12ca4f0b0f3fc
    10 N5fa20b2cf7c94f7fa11ca7cd89d86fc4
    11 N6500ab72300b4530b161551743003591
    12 N650f182195ee49a1a8ca02585589242a
    13 N6b70f681a03143a0a55dd8be87f1146f
    14 N6f34c040cdd84a709e50cf595d8a2d01
    15 N76eb3392c4314927ad7a637b827c688a
    16 N8984fd0e450548bdb866a7c476048b6e
    17 N8a633291c046464680f7679e69596896
    18 N9a331deae5a24692a60174711f363d22
    19 Ncdcfde88c7744862891f0a1c9f35601c
    20 Nd27d23f8991d4e8cb61cffe6d765e8ba
    21 anzsrc-for:06
    22 anzsrc-for:0604
    23 schema:author Nbf35762916854035a6d5352afd411693
    24 schema:citation sg:pub.10.1007/s00439-017-1765-z
    25 sg:pub.10.1038/jhg.2016.157
    26 sg:pub.10.1038/jhg.2017.35
    27 sg:pub.10.1038/jhg.2017.65
    28 sg:pub.10.1038/ng.2892
    29 sg:pub.10.1038/ng1892
    30 sg:pub.10.1038/nrm.2017.60
    31 sg:pub.10.1038/nrm2278
    32 sg:pub.10.1038/srep24083
    33 sg:pub.10.1038/srep34232
    34 schema:datePublished 2017-11-14
    35 schema:datePublishedReg 2017-11-14
    36 schema:description The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 genes have been identified in association with skeletal ciliopathies. Mutations in the KIAA0753 gene have recently been associated with Joubert syndrome (JBTS) and orofaciodigital (OFD) syndrome. We report biallelic pathogenic variants in KIAA0753 in four patients with short-rib type skeletal dysplasia. The manifestations in our patients are variable and ranging from fetal lethal to viable and moderate skeletal dysplasia with narrow thorax and abnormal metaphyses. We demonstrate that KIAA0753 is expressed in normal fetal human growth plate and show that the affected fetus, with a compound heterozygous frameshift and a nonsense mutation in KIAA0753, has an abnormal proliferative zone and a broad hypertrophic zone. The importance of KIAA0753 for normal skeletal development is further confirmed by our findings that zebrafish embryos homozygous for a nonsense mutation in kiaa0753 display altered cartilage patterning.
    37 schema:genre article
    38 schema:inLanguage en
    39 schema:isAccessibleForFree true
    40 schema:isPartOf N17a2d9cec9aa45fea19232d99d736ed9
    41 N97aa92d1ecd347d1b0dc1414e9f91021
    42 sg:journal.1045337
    43 schema:keywords Joubert syndrome
    44 KIAA0753
    45 KIAA0753 gene
    46 KIAA0753 mutations
    47 Novel KIAA0753 mutations
    48 abnormal metaphyses
    49 abnormal proliferative zone
    50 association
    51 biallelic pathogenic variants
    52 bone
    53 broad hypertrophic zone
    54 cartilage patterning
    55 ciliopathies
    56 clinical features
    57 compound heterozygous frameshift
    58 date
    59 development
    60 disorders
    61 display
    62 dysplasia
    63 embryos
    64 features
    65 fetal human growth plate
    66 fetuses
    67 findings
    68 frameshift
    69 genes
    70 genetic variability
    71 group
    72 growth plate
    73 heterogeneous group
    74 heterozygous frameshift
    75 human growth plate
    76 hypertrophic zone
    77 hypoplasia
    78 importance
    79 importance of KIAA0753
    80 kiaa0753 display
    81 main clinical features
    82 manifestations
    83 metaphyses
    84 moderate skeletal dysplasia
    85 mutations
    86 narrow thorax
    87 nonsense mutation
    88 normal fetal human growth plate
    89 normal skeletal development
    90 orofaciodigital syndrome
    91 pathogenic variants
    92 patients
    93 patterning
    94 phenotype
    95 plate
    96 proliferative zone
    97 short tubular bones
    98 short-rib type skeletal dysplasia
    99 skeletal ciliopathies
    100 skeletal development
    101 skeletal dysplasia
    102 syndrome
    103 thorax
    104 tubular bones
    105 type skeletal dysplasia
    106 variability
    107 variants
    108 zebrafish embryos
    109 zone
    110 schema:name Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
    111 schema:pagination 15585
    112 schema:productId N82404e2bc5ef44a28bf320af66708427
    113 N8c4615fdc7314b48b789bb0d2cf18b1d
    114 Nd5a2c880a9e94bec9093a5a2be1a2e3d
    115 schema:sameAs https://app.dimensions.ai/details/publication/pub.1092599573
    116 https://doi.org/10.1038/s41598-017-15442-1
    117 schema:sdDatePublished 2021-12-01T19:39
    118 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    119 schema:sdPublisher Nbeedde0e56ed458291b2c5d605a310a9
    120 schema:url https://doi.org/10.1038/s41598-017-15442-1
    121 sgo:license sg:explorer/license/
    122 sgo:sdDataset articles
    123 rdf:type schema:ScholarlyArticle
    124 N05526098fa904926a8e7c013798305f5 rdf:first sg:person.0764126607.90
    125 rdf:rest N2df23175937a453c896136ffe00a1317
    126 N08a0ceb837d34d9dac0ebdf81b328032 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    127 schema:name Abnormalities, Multiple
    128 rdf:type schema:DefinedTerm
    129 N118ada9dbd564043bf7a829a56ceda51 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    130 schema:name Orofaciodigital Syndromes
    131 rdf:type schema:DefinedTerm
    132 N11d8724e659a4a069c17c83ad3c96c23 rdf:first sg:person.01142046575.02
    133 rdf:rest N7baadc5a28ed4229931f8b4dec88a4f1
    134 N1236af1698de48f3b651ff6dbe729f50 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    135 schema:name Ciliopathies
    136 rdf:type schema:DefinedTerm
    137 N1586e8a7ab3048bea2a9173ca8e91a2e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    138 schema:name Pedigree
    139 rdf:type schema:DefinedTerm
    140 N17a2d9cec9aa45fea19232d99d736ed9 schema:volumeNumber 7
    141 rdf:type schema:PublicationVolume
    142 N1af6fd67afe446949931cafa1925863e rdf:first N8dfa04e922c14ff591b8a8da2f0e4720
    143 rdf:rest N84dcbeaec0a049788064480756c8b883
    144 N1b0d8e6a374e4b24971bfffe28d1db35 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    145 schema:name Muscle, Skeletal
    146 rdf:type schema:DefinedTerm
    147 N254b375602dc421fbaf10dbf33add7cd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    148 schema:name Kidney Diseases, Cystic
    149 rdf:type schema:DefinedTerm
    150 N2df23175937a453c896136ffe00a1317 rdf:first sg:person.01220366033.14
    151 rdf:rest Nc55b279a5e5d4cc6b36055c5c6c84774
    152 N3ada3bd3ab11438d884627dbca83e6cd rdf:first sg:person.0761600343.21
    153 rdf:rest N83eda94ac2ad4213b04cceea02653d1b
    154 N46054ec9205d41c494a9304a5f114e56 rdf:first sg:person.01010643645.80
    155 rdf:rest Na3ed2ed4daf14b81b100242fd0e7831f
    156 N4e3e4c89cc7d49f3b7bde9c6c8e481e7 rdf:first sg:person.07772501441.69
    157 rdf:rest N98c562ee770e4eff96d9a20ea6637d8c
    158 N5023465042294bf9b8e5ae90b702aab7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    159 schema:name Male
    160 rdf:type schema:DefinedTerm
    161 N54a2a0eb0c474812965c4985afe2f82f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    162 schema:name Phenotype
    163 rdf:type schema:DefinedTerm
    164 N5d09a22ef96d453a8dc12ca4f0b0f3fc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    165 schema:name Eye Abnormalities
    166 rdf:type schema:DefinedTerm
    167 N5fa20b2cf7c94f7fa11ca7cd89d86fc4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    168 schema:name Retina
    169 rdf:type schema:DefinedTerm
    170 N6500ab72300b4530b161551743003591 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    171 schema:name Humans
    172 rdf:type schema:DefinedTerm
    173 N650f182195ee49a1a8ca02585589242a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    174 schema:name Child, Preschool
    175 rdf:type schema:DefinedTerm
    176 N6b6cedc2cc184a0480c7f28cace5d7bf schema:affiliation grid-institutes:grid.4714.6
    177 schema:familyName Hofmeister
    178 schema:givenName W.
    179 rdf:type schema:Person
    180 N6b70f681a03143a0a55dd8be87f1146f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    181 schema:name Cerebellum
    182 rdf:type schema:DefinedTerm
    183 N6f34c040cdd84a709e50cf595d8a2d01 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    184 schema:name Homozygote
    185 rdf:type schema:DefinedTerm
    186 N71715867df134ccf81577c9440f044e7 rdf:first sg:person.0715052055.54
    187 rdf:rest Neb83e3d7ae8849b4920679e518af1850
    188 N76eb3392c4314927ad7a637b827c688a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    189 schema:name Microtubule-Associated Proteins
    190 rdf:type schema:DefinedTerm
    191 N7baadc5a28ed4229931f8b4dec88a4f1 rdf:first sg:person.01027727764.75
    192 rdf:rest Nede8195646f24783ba0363d341dfe3c0
    193 N82404e2bc5ef44a28bf320af66708427 schema:name doi
    194 schema:value 10.1038/s41598-017-15442-1
    195 rdf:type schema:PropertyValue
    196 N83eda94ac2ad4213b04cceea02653d1b rdf:first sg:person.0731056376.40
    197 rdf:rest N05526098fa904926a8e7c013798305f5
    198 N84dcbeaec0a049788064480756c8b883 rdf:first sg:person.01020376771.12
    199 rdf:rest N11d8724e659a4a069c17c83ad3c96c23
    200 N87ba728dde35484abe459c62b7b40c4d rdf:first sg:person.016030551347.68
    201 rdf:rest N46054ec9205d41c494a9304a5f114e56
    202 N8984fd0e450548bdb866a7c476048b6e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    203 schema:name Child
    204 rdf:type schema:DefinedTerm
    205 N8a633291c046464680f7679e69596896 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    206 schema:name Infant
    207 rdf:type schema:DefinedTerm
    208 N8c4615fdc7314b48b789bb0d2cf18b1d schema:name dimensions_id
    209 schema:value pub.1092599573
    210 rdf:type schema:PropertyValue
    211 N8dfa04e922c14ff591b8a8da2f0e4720 schema:affiliation grid-institutes:grid.415954.8
    212 schema:familyName Yan
    213 schema:givenName L.
    214 rdf:type schema:Person
    215 N8e549c5e6ef249559e3133d76f678c92 rdf:first sg:person.0624652442.62
    216 rdf:rest N3ada3bd3ab11438d884627dbca83e6cd
    217 N93b9c9b9663c4ad898a044778721be6f rdf:first sg:person.0701461535.65
    218 rdf:rest N99b1abe93f9445d599d1ffe051a11e91
    219 N97aa92d1ecd347d1b0dc1414e9f91021 schema:issueNumber 1
    220 rdf:type schema:PublicationIssue
    221 N98c562ee770e4eff96d9a20ea6637d8c rdf:first N6b6cedc2cc184a0480c7f28cace5d7bf
    222 rdf:rest Nbc982b14320b47f7ae6083a8a87cafd5
    223 N99b1abe93f9445d599d1ffe051a11e91 rdf:first sg:person.01333671255.87
    224 rdf:rest Nd78809a1e8df4d7989f010879c1a39da
    225 N9a331deae5a24692a60174711f363d22 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    226 schema:name Mutation
    227 rdf:type schema:DefinedTerm
    228 Na047eb3b5d034a9490ef79f8321ab70e rdf:first sg:person.01211043147.75
    229 rdf:rest N87ba728dde35484abe459c62b7b40c4d
    230 Na3ed2ed4daf14b81b100242fd0e7831f rdf:first sg:person.0607636765.37
    231 rdf:rest N93b9c9b9663c4ad898a044778721be6f
    232 Nbc982b14320b47f7ae6083a8a87cafd5 rdf:first sg:person.01372450510.27
    233 rdf:rest N71715867df134ccf81577c9440f044e7
    234 Nbeedde0e56ed458291b2c5d605a310a9 schema:name Springer Nature - SN SciGraph project
    235 rdf:type schema:Organization
    236 Nbf35762916854035a6d5352afd411693 rdf:first sg:person.01007713575.59
    237 rdf:rest Ne6047086ac0840a1a5724b431d68e3e5
    238 Nc55b279a5e5d4cc6b36055c5c6c84774 rdf:first sg:person.01345345355.70
    239 rdf:rest Na047eb3b5d034a9490ef79f8321ab70e
    240 Ncdcfde88c7744862891f0a1c9f35601c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    241 schema:name Genetic Predisposition to Disease
    242 rdf:type schema:DefinedTerm
    243 Nd27d23f8991d4e8cb61cffe6d765e8ba schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    244 schema:name Female
    245 rdf:type schema:DefinedTerm
    246 Nd5756ba932604f5a8843255da3baeb44 rdf:first sg:person.0602347562.52
    247 rdf:rest rdf:nil
    248 Nd5a2c880a9e94bec9093a5a2be1a2e3d schema:name pubmed_id
    249 schema:value 29138412
    250 rdf:type schema:PropertyValue
    251 Nd78809a1e8df4d7989f010879c1a39da rdf:first sg:person.01045102311.84
    252 rdf:rest N4e3e4c89cc7d49f3b7bde9c6c8e481e7
    253 Ne6047086ac0840a1a5724b431d68e3e5 rdf:first sg:person.01175555417.08
    254 rdf:rest N8e549c5e6ef249559e3133d76f678c92
    255 Neb83e3d7ae8849b4920679e518af1850 rdf:first Nf9fd8b44922845cd96fb8270231538c5
    256 rdf:rest N1af6fd67afe446949931cafa1925863e
    257 Nede8195646f24783ba0363d341dfe3c0 rdf:first sg:person.0762003625.89
    258 rdf:rest Nd5756ba932604f5a8843255da3baeb44
    259 Nf9fd8b44922845cd96fb8270231538c5 schema:affiliation grid-institutes:grid.263023.6
    260 schema:familyName Nishimura
    261 schema:givenName G.
    262 rdf:type schema:Person
    263 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    264 schema:name Biological Sciences
    265 rdf:type schema:DefinedTerm
    266 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    267 schema:name Genetics
    268 rdf:type schema:DefinedTerm
    269 sg:grant.5907324 http://pending.schema.org/fundedItem sg:pub.10.1038/s41598-017-15442-1
    270 rdf:type schema:MonetaryGrant
    271 sg:grant.6842132 http://pending.schema.org/fundedItem sg:pub.10.1038/s41598-017-15442-1
    272 rdf:type schema:MonetaryGrant
    273 sg:journal.1045337 schema:issn 2045-2322
    274 schema:name Scientific Reports
    275 schema:publisher Springer Nature
    276 rdf:type schema:Periodical
    277 sg:person.01007713575.59 schema:affiliation grid-institutes:grid.24381.3c
    278 schema:familyName Hammarsjö
    279 schema:givenName A.
    280 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01007713575.59
    281 rdf:type schema:Person
    282 sg:person.01010643645.80 schema:affiliation grid-institutes:grid.412931.c
    283 schema:familyName Gowrishankar
    284 schema:givenName K.
    285 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01010643645.80
    286 rdf:type schema:Person
    287 sg:person.01020376771.12 schema:affiliation grid-institutes:grid.268441.d
    288 schema:familyName Matsumoto
    289 schema:givenName N.
    290 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01020376771.12
    291 rdf:type schema:Person
    292 sg:person.01027727764.75 schema:affiliation grid-institutes:grid.268441.d
    293 schema:familyName Miyake
    294 schema:givenName N.
    295 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027727764.75
    296 rdf:type schema:Person
    297 sg:person.01045102311.84 schema:affiliation grid-institutes:grid.4714.6
    298 schema:familyName Newton
    299 schema:givenName P. T.
    300 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01045102311.84
    301 rdf:type schema:Person
    302 sg:person.01142046575.02 schema:affiliation grid-institutes:grid.24381.3c
    303 schema:familyName Nordgren
    304 schema:givenName A.
    305 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01142046575.02
    306 rdf:type schema:Person
    307 sg:person.01175555417.08 schema:affiliation grid-institutes:grid.506261.6
    308 schema:familyName Wang
    309 schema:givenName Z.
    310 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01175555417.08
    311 rdf:type schema:Person
    312 sg:person.01211043147.75 schema:affiliation grid-institutes:grid.17063.33
    313 schema:familyName Shannon
    314 schema:givenName P.
    315 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01211043147.75
    316 rdf:type schema:Person
    317 sg:person.01220366033.14 schema:affiliation grid-institutes:grid.17063.33
    318 schema:familyName Chitayat
    319 schema:givenName D.
    320 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01220366033.14
    321 rdf:type schema:Person
    322 sg:person.01333671255.87 schema:affiliation grid-institutes:grid.411583.a
    323 schema:familyName Baktashian
    324 schema:givenName M.
    325 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333671255.87
    326 rdf:type schema:Person
    327 sg:person.01345345355.70 schema:affiliation grid-institutes:None
    328 schema:familyName Neethukrishna
    329 schema:givenName K.
    330 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01345345355.70
    331 rdf:type schema:Person
    332 sg:person.01372450510.27 schema:affiliation grid-institutes:grid.24381.3c
    333 schema:familyName Pettersson
    334 schema:givenName M.
    335 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01372450510.27
    336 rdf:type schema:Person
    337 sg:person.016030551347.68 schema:affiliation grid-institutes:grid.17063.33
    338 schema:familyName Godoy
    339 schema:givenName R.
    340 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016030551347.68
    341 rdf:type schema:Person
    342 sg:person.0602347562.52 schema:affiliation grid-institutes:grid.509459.4
    343 schema:familyName Ikegawa
    344 schema:givenName S.
    345 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602347562.52
    346 rdf:type schema:Person
    347 sg:person.0607636765.37 schema:affiliation grid-institutes:grid.24381.3c
    348 schema:familyName Lindstrand
    349 schema:givenName A.
    350 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0607636765.37
    351 rdf:type schema:Person
    352 sg:person.0624652442.62 schema:affiliation grid-institutes:grid.4714.6
    353 schema:familyName Vaz
    354 schema:givenName R.
    355 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0624652442.62
    356 rdf:type schema:Person
    357 sg:person.0701461535.65 schema:affiliation grid-institutes:grid.411036.1
    358 schema:familyName Nasiri
    359 schema:givenName J.
    360 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701461535.65
    361 rdf:type schema:Person
    362 sg:person.0715052055.54 schema:affiliation grid-institutes:grid.4714.6
    363 schema:familyName Chagin
    364 schema:givenName A. S.
    365 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0715052055.54
    366 rdf:type schema:Person
    367 sg:person.0731056376.40 schema:affiliation grid-institutes:grid.411036.1
    368 schema:familyName Sedghi
    369 schema:givenName M.
    370 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0731056376.40
    371 rdf:type schema:Person
    372 sg:person.0761600343.21 schema:affiliation grid-institutes:grid.4714.6
    373 schema:familyName Taylan
    374 schema:givenName F.
    375 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0761600343.21
    376 rdf:type schema:Person
    377 sg:person.0762003625.89 schema:affiliation grid-institutes:grid.24381.3c
    378 schema:familyName Grigelioniene
    379 schema:givenName G.
    380 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0762003625.89
    381 rdf:type schema:Person
    382 sg:person.0764126607.90 schema:affiliation grid-institutes:None
    383 schema:familyName Girisha
    384 schema:givenName K. M.
    385 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0764126607.90
    386 rdf:type schema:Person
    387 sg:person.07772501441.69 schema:affiliation grid-institutes:grid.509459.4
    388 schema:familyName Guo
    389 schema:givenName L.
    390 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07772501441.69
    391 rdf:type schema:Person
    392 sg:pub.10.1007/s00439-017-1765-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1083851980
    393 https://doi.org/10.1007/s00439-017-1765-z
    394 rdf:type schema:CreativeWork
    395 sg:pub.10.1038/jhg.2016.157 schema:sameAs https://app.dimensions.ai/details/publication/pub.1074195767
    396 https://doi.org/10.1038/jhg.2016.157
    397 rdf:type schema:CreativeWork
    398 sg:pub.10.1038/jhg.2017.35 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084128239
    399 https://doi.org/10.1038/jhg.2017.35
    400 rdf:type schema:CreativeWork
    401 sg:pub.10.1038/jhg.2017.65 schema:sameAs https://app.dimensions.ai/details/publication/pub.1086035056
    402 https://doi.org/10.1038/jhg.2017.65
    403 rdf:type schema:CreativeWork
    404 sg:pub.10.1038/ng.2892 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050728268
    405 https://doi.org/10.1038/ng.2892
    406 rdf:type schema:CreativeWork
    407 sg:pub.10.1038/ng1892 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036669448
    408 https://doi.org/10.1038/ng1892
    409 rdf:type schema:CreativeWork
    410 sg:pub.10.1038/nrm.2017.60 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090609634
    411 https://doi.org/10.1038/nrm.2017.60
    412 rdf:type schema:CreativeWork
    413 sg:pub.10.1038/nrm2278 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053367126
    414 https://doi.org/10.1038/nrm2278
    415 rdf:type schema:CreativeWork
    416 sg:pub.10.1038/srep24083 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051506229
    417 https://doi.org/10.1038/srep24083
    418 rdf:type schema:CreativeWork
    419 sg:pub.10.1038/srep34232 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021155262
    420 https://doi.org/10.1038/srep34232
    421 rdf:type schema:CreativeWork
    422 grid-institutes:None schema:alternateName Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
    423 schema:name Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
    424 rdf:type schema:Organization
    425 grid-institutes:grid.17063.33 schema:alternateName Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario Canada
    426 Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario Canada
    427 The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario Canada
    428 schema:name Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario Canada
    429 Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario Canada
    430 The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario Canada
    431 rdf:type schema:Organization
    432 grid-institutes:grid.24381.3c schema:alternateName Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
    433 schema:name Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
    434 Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    435 rdf:type schema:Organization
    436 grid-institutes:grid.263023.6 schema:alternateName Intractable Disease Center, Saitama University Hospital, Saitama, Japan
    437 schema:name Intractable Disease Center, Saitama University Hospital, Saitama, Japan
    438 rdf:type schema:Organization
    439 grid-institutes:grid.268441.d schema:alternateName Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    440 schema:name Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
    441 rdf:type schema:Organization
    442 grid-institutes:grid.411036.1 schema:alternateName Department of Pediatric Neurology, Faculty of Medicine, Child Growth and Development Research Center, Isfahan University of Medical sciences, Isfahan, Iran
    443 Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
    444 schema:name Department of Pediatric Neurology, Faculty of Medicine, Child Growth and Development Research Center, Isfahan University of Medical sciences, Isfahan, Iran
    445 Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
    446 rdf:type schema:Organization
    447 grid-institutes:grid.411583.a schema:alternateName Student Research Committee, Department of Modern Sciences and Technologies, Faculty of medicine, Mashhad University of Medical Sciences, Mashhad, Iran
    448 schema:name Student Research Committee, Department of Modern Sciences and Technologies, Faculty of medicine, Mashhad University of Medical Sciences, Mashhad, Iran
    449 rdf:type schema:Organization
    450 grid-institutes:grid.412931.c schema:alternateName Medical Genetics, Kanchi Kamakoti Childs Trust Hospital, Chennai Tamilnadu, India
    451 schema:name Medical Genetics, Kanchi Kamakoti Childs Trust Hospital, Chennai Tamilnadu, India
    452 rdf:type schema:Organization
    453 grid-institutes:grid.415954.8 schema:alternateName Department of Neurology, China-Japan Friendship Hospital, Beijing, China
    454 schema:name Department of Neurology, China-Japan Friendship Hospital, Beijing, China
    455 rdf:type schema:Organization
    456 grid-institutes:grid.4714.6 schema:alternateName Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    457 Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden
    458 schema:name Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    459 Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden
    460 rdf:type schema:Organization
    461 grid-institutes:grid.506261.6 schema:alternateName Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China
    462 schema:name Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China
    463 Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan
    464 rdf:type schema:Organization
    465 grid-institutes:grid.509459.4 schema:alternateName Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan
    466 schema:name Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan
    467 rdf:type schema:Organization
     




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


    ...