Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-06

AUTHORS

Fanny Kortüm, Viviana Caputo, Christiane K Bauer, Lorenzo Stella, Andrea Ciolfi, Malik Alawi, Gianfranco Bocchinfuso, Elisabetta Flex, Stefano Paolacci, Maria Lisa Dentici, Paola Grammatico, Georg Christoph Korenke, Vincenzo Leuzzi, David Mowat, Lal D V Nair, Thi Tuyet Mai Nguyen, Patrick Thierry, Susan M White, Bruno Dallapiccola, Antonio Pizzuti, Philippe M Campeau, Marco Tartaglia, Kerstin Kutsche

ABSTRACT

Zimmermann-Laband syndrome (ZLS) is a developmental disorder characterized by facial dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails and terminal phalanges, and hypertrichosis. We report that heterozygous missense mutations in KCNH1 account for a considerable proportion of ZLS. KCNH1 encodes the voltage-gated K(+) channel Eag1 (Kv10.1). Patch-clamp recordings showed strong negative shifts in voltage-dependent activation for all but one KCNH1 channel mutant (Gly469Arg). Coexpression of Gly469Arg with wild-type KCNH1 resulted in heterotetrameric channels with reduced conductance at positive potentials but pronounced conductance at negative potentials. These data support a gain-of-function effect for all ZLS-associated KCNH1 mutants. We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H(+) ATPase, in two individuals with ZLS. Structural analysis predicts a perturbing effect of the mutation on complex assembly. Our findings demonstrate that KCNH1 mutations cause ZLS and document genetic heterogeneity for this disorder. More... »

PAGES

661-667

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.3282

DOI

http://dx.doi.org/10.1038/ng.3282

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1006325734

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25915598


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

JSON-LD is the canonical representation for SciGraph data.

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

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0601", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biochemistry and Cell Biology", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Abnormalities, Multiple", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Animals", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "CHO Cells", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Codon, Nonsense", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Craniofacial Abnormalities", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cricetinae", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cricetulus", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Ether-A-Go-Go Potassium Channels", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Fibromatosis, Gingival", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Association Studies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hand Deformities, Congenital", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Membrane Potentials", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Models, Molecular", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation, Missense", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Protein Conformation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Vacuolar Proton-Translocating ATPases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Xenopus laevis", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University Medical Center Hamburg-Eppendorf", 
          "id": "https://www.grid.ac/institutes/grid.13648.38", 
          "name": [
            "Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kort\u00fcm", 
        "givenName": "Fanny", 
        "id": "sg:person.01001607145.65", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01001607145.65"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Sapienza University of Rome", 
          "id": "https://www.grid.ac/institutes/grid.7841.a", 
          "name": [
            "Dipartimento di Medicina Sperimentale, Universit\u00e0 La Sapienza, Rome, Italy."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Caputo", 
        "givenName": "Viviana", 
        "id": "sg:person.0636267753.02", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0636267753.02"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Medical Center Hamburg-Eppendorf", 
          "id": "https://www.grid.ac/institutes/grid.13648.38", 
          "name": [
            "Department of Cellular and Integrative Physiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bauer", 
        "givenName": "Christiane K", 
        "id": "sg:person.01165536653.59", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165536653.59"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Rome Tor Vergata", 
          "id": "https://www.grid.ac/institutes/grid.6530.0", 
          "name": [
            "Dipartimento di Scienze e Tecnologie Chimiche, Universit\u00e0 'Tor Vergata', Rome, Italy."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Stella", 
        "givenName": "Lorenzo", 
        "id": "sg:person.01140721253.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01140721253.41"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Istituto Superiore di Sanit\u00e0", 
          "id": "https://www.grid.ac/institutes/grid.416651.1", 
          "name": [
            "Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanit\u00e0, Rome, Italy."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ciolfi", 
        "givenName": "Andrea", 
        "id": "sg:person.01066744753.85", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01066744753.85"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Heinrich-Pette-Institute", 
          "id": "https://www.grid.ac/institutes/grid.418481.0", 
          "name": [
            "University Medical Center Hamburg-Eppendorf, Bioinformatics Service Facility, Hamburg, Germany.", 
            "Center for Bioinformatics, University of Hamburg, Hamburg, Germany.", 
            "Heinrich Pette Institute, Leibniz Institute for Experimental Virology, Virus Genomics, Hamburg, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Alawi", 
        "givenName": "Malik", 
        "id": "sg:person.01131635212.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01131635212.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Rome Tor Vergata", 
          "id": "https://www.grid.ac/institutes/grid.6530.0", 
          "name": [
            "Dipartimento di Scienze e Tecnologie Chimiche, Universit\u00e0 'Tor Vergata', Rome, Italy."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bocchinfuso", 
        "givenName": "Gianfranco", 
        "id": "sg:person.01065411114.84", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01065411114.84"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Istituto Superiore di Sanit\u00e0", 
          "id": "https://www.grid.ac/institutes/grid.416651.1", 
          "name": [
            "Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanit\u00e0, Rome, Italy."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Flex", 
        "givenName": "Elisabetta", 
        "id": "sg:person.01242104663.69", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01242104663.69"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Istituto Superiore di Sanit\u00e0", 
          "id": "https://www.grid.ac/institutes/grid.416651.1", 
          "name": [
            "Dipartimento di Medicina Sperimentale, Universit\u00e0 La Sapienza, Rome, Italy.", 
            "Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanit\u00e0, Rome, Italy."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Paolacci", 
        "givenName": "Stefano", 
        "id": "sg:person.011762433350.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011762433350.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Ospedale Pediatrico Bambino Ges\u00f9\u2013Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dentici", 
        "givenName": "Maria Lisa", 
        "id": "sg:person.01123741444.71", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01123741444.71"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Sapienza University of Rome", 
          "id": "https://www.grid.ac/institutes/grid.7841.a", 
          "name": [
            "Dipartimento di Medicina Molecolare, Universit\u00e0 La Sapienza, Ospedale San Camillo-Forlanini, Rome, Italy."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Grammatico", 
        "givenName": "Paola", 
        "id": "sg:person.01166013405.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166013405.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Klinikum Oldenburg", 
          "id": "https://www.grid.ac/institutes/grid.419838.f", 
          "name": [
            "Zentrum f\u00fcr Kinder- und Jugendmedizin, Neurop\u00e4diatrie, Klinikum Oldenburg, Oldenburg, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Korenke", 
        "givenName": "Georg Christoph", 
        "id": "sg:person.0746542075.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746542075.21"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Sapienza University of Rome", 
          "id": "https://www.grid.ac/institutes/grid.7841.a", 
          "name": [
            "Dipartimento di Pediatria e Neuropsichiatria Infantile, Universit\u00e0 La Sapienza, Rome, Italy."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Leuzzi", 
        "givenName": "Vincenzo", 
        "id": "sg:person.0612121222.23", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0612121222.23"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "UNSW Australia", 
          "id": "https://www.grid.ac/institutes/grid.1005.4", 
          "name": [
            "Department of Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.", 
            "School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales, Sydney, New South Wales, Australia."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mowat", 
        "givenName": "David", 
        "id": "sg:person.013463224011.23", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013463224011.23"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Saveetha University", 
          "id": "https://www.grid.ac/institutes/grid.412431.1", 
          "name": [
            "Department of Pediatrics, Saveetha Medical College and Hospital, Saveetha University, Chennai, India."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nair", 
        "givenName": "Lal D V", 
        "id": "sg:person.01020220225.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01020220225.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Sainte-Justine Hospital Research Center, University of Montreal, Montreal, Quebec, Canada."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nguyen", 
        "givenName": "Thi Tuyet Mai", 
        "id": "sg:person.0722314545.26", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0722314545.26"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Service de P\u00e9diatrie, Centre Hospitalier Intercommunal de la Haute-Sa\u00f4ne, Vesoul, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Thierry", 
        "givenName": "Patrick", 
        "id": "sg:person.01347427301.02", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01347427301.02"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Melbourne", 
          "id": "https://www.grid.ac/institutes/grid.1008.9", 
          "name": [
            "Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.", 
            "Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia."
          ], 
          "type": "Organization"
        }, 
        "familyName": "White", 
        "givenName": "Susan M", 
        "id": "sg:person.014264122672.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014264122672.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Ospedale Pediatrico Bambino Ges\u00f9\u2013Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dallapiccola", 
        "givenName": "Bruno", 
        "id": "sg:person.01306004460.66", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01306004460.66"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Sapienza University of Rome", 
          "id": "https://www.grid.ac/institutes/grid.7841.a", 
          "name": [
            "Dipartimento di Medicina Sperimentale, Universit\u00e0 La Sapienza, Rome, Italy."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pizzuti", 
        "givenName": "Antonio", 
        "id": "sg:person.0615150260.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0615150260.09"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Campeau", 
        "givenName": "Philippe M", 
        "id": "sg:person.01162000360.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01162000360.51"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Istituto Superiore di Sanit\u00e0", 
          "id": "https://www.grid.ac/institutes/grid.416651.1", 
          "name": [
            "Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanit\u00e0, Rome, Italy.", 
            "Ospedale Pediatrico Bambino Ges\u00f9\u2013Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tartaglia", 
        "givenName": "Marco", 
        "id": "sg:person.01300407312.73", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01300407312.73"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Medical Center Hamburg-Eppendorf", 
          "id": "https://www.grid.ac/institutes/grid.13648.38", 
          "name": [
            "Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kutsche", 
        "givenName": "Kerstin", 
        "id": "sg:person.01167443402.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167443402.43"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1085/jgp.200810083", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001533305"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1085/jgp.201210826", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002222457"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0026329", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002951060"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3153", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003177461", 
          "https://doi.org/10.1038/ng.3153"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1083/jcb.200911083", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006278298"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nprot.2010.5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006999469", 
          "https://doi.org/10.1038/nprot.2010.5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nprot.2010.5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006999469", 
          "https://doi.org/10.1038/nprot.2010.5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.32034", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007509295"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/jcc.20084", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008225564"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1113/jphysiol.2014.281600", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008285775"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.febslet.2012.07.055", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010022265"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1083/jcb.201303104", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010217368"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/mcd.0b013e3282f2514c", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011074589"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/mcd.0b013e3282f2514c", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011074589"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/mcd.0b013e3282f2514c", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011074589"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/jcp.24435", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011156827"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature11778", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011253559", 
          "https://doi.org/10.1038/nature11778"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.2324", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012685651", 
          "https://doi.org/10.1038/ng.2324"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pgen.1003709", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013368129"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.5402/2011/497850", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013661238"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.m600883200", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017654081"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00232-001-0031-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020744342", 
          "https://doi.org/10.1007/s00232-001-0031-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ki.2008.96", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021613986", 
          "https://doi.org/10.1038/ki.2008.96"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1523/jneurosci.2307-13.2013", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022538912"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.89.8.3541", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022769619"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1146/annurev-physiol-012110-142317", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024230206"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.10174", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024828114"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.22376", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024997401"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1474-4422(10)70059-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025920078"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.c.31412", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026408067"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.34030", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026415507"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.274.9.5362", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026587859"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2012.04.014", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027687819"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrm2272", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028478435", 
          "https://doi.org/10.1038/nrm2272"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.bbabio.2014.01.018", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029907793"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0030-4220(64)90506-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030745997"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0030-4220(64)90506-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030745997"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3050", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031523622", 
          "https://doi.org/10.1038/ng.3050"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.107524.110", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032096953"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejmg.2013.09.009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033184208"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1042/bj3030191", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034940036"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1042/bj3030191", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034940036"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.31544", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037479064"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/btp324", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038266369"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/epi.12201", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038295194"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddt076", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038653795"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.34184", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039491858"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1476-4598-5-41", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040572249", 
          "https://doi.org/10.1186/1476-4598-5-41"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrc3635", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042579945", 
          "https://doi.org/10.1038/nrc3635"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.neuroscience.2008.05.019", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044109755"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3389/neuro.03.020.2009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045165545"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.33574", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045504357"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.bpj.2014.01.035", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046270747"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.4161/fly.19695", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046734556"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.22555", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047397943"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1152/jn.00486.2004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048642877"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejmg.2013.08.004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050722171"
        ], 
        "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/cr.2014.77", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050757455", 
          "https://doi.org/10.1038/cr.2014.77"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00232-007-9080-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052736063", 
          "https://doi.org/10.1007/s00232-007-9080-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00232-007-9080-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052736063", 
          "https://doi.org/10.1007/s00232-007-9080-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gku340", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052806377"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1124/mol.111.071621", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052918783"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1075955033", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1077135044", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1077918822", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1080902982", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1152/ajpcell.1993.265.4.c901", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1082716851"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2015-06", 
    "datePublishedReg": "2015-06-01", 
    "description": "Zimmermann-Laband syndrome (ZLS) is a developmental disorder characterized by facial dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails and terminal phalanges, and hypertrichosis. We report that heterozygous missense mutations in KCNH1 account for a considerable proportion of ZLS. KCNH1 encodes the voltage-gated K(+) channel Eag1 (Kv10.1). Patch-clamp recordings showed strong negative shifts in voltage-dependent activation for all but one KCNH1 channel mutant (Gly469Arg). Coexpression of Gly469Arg with wild-type KCNH1 resulted in heterotetrameric channels with reduced conductance at positive potentials but pronounced conductance at negative potentials. These data support a gain-of-function effect for all ZLS-associated KCNH1 mutants. We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H(+) ATPase, in two individuals with ZLS. Structural analysis predicts a perturbing effect of the mutation on complex assembly. Our findings demonstrate that KCNH1 mutations cause ZLS and document genetic heterogeneity for this disorder. ", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ng.3282", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "6", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "47"
      }
    ], 
    "name": "Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome", 
    "pagination": "661-667", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "1e21934ff3d561b156e85221b93bc138f46a1093a2bf67ae8f3d8d13825d5aa7"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "25915598"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng.3282"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1006325734"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng.3282", 
      "https://app.dimensions.ai/details/publication/pub.1006325734"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T19:45", 
    "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_8681_00000421.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/ng.3282"
  }
]
 

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/ng.3282'

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/ng.3282'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng.3282'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng.3282'


 

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

545 TRIPLES      21 PREDICATES      112 URIs      42 LITERALS      30 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng.3282 schema:about N15bcfce7e08945628fbadb0ea83f2a41
2 N2cac4726678b49b190c5b8aeda0dddc5
3 N39503b55ea1a448c87775e98082133f5
4 N401f915cc5fa499eb8ddf0d4ca627ea1
5 N4661e10d6bb54eb78d10877f089c1d1e
6 N56d07e30ab76436f9f24e815164478a7
7 N608519afcb234f949fe386a54046c669
8 N67dfa40b6d20467da71209746220aede
9 N7c628f0ce75c4e66ad149b79a1aebdb1
10 N9af553e9929442feae77793a9721015e
11 N9c167269581f49aaa0e603ab496d4998
12 Na99270c84a3b49fda855f8dd3f2f0cb5
13 Nb4e35b3643464281b8b0b2ff050b4cb4
14 Nc23c5c88ab0f4519b88eb1fe3312032d
15 Nc4edcd8e213542ddb5b471fa7bee0c00
16 Ncff1b498290842b8ac2b9527a0633d9b
17 Nd0e45330c8b840b0b00829cb14599762
18 Nda1a5e7b44a64a1aa15194ead9ecc4ef
19 Ndd6af3df380a433ba3c3528a9cf43be7
20 Nf0c647a3ba7e4303abe4fae0e697bf59
21 Nf564c2f613094e708fadde6ce6f13e3e
22 anzsrc-for:06
23 anzsrc-for:0601
24 schema:author N28b996859271486288460deb2cbe3f07
25 schema:citation sg:pub.10.1007/s00232-001-0031-3
26 sg:pub.10.1007/s00232-007-9080-6
27 sg:pub.10.1038/cr.2014.77
28 sg:pub.10.1038/ki.2008.96
29 sg:pub.10.1038/nature11778
30 sg:pub.10.1038/ng.2324
31 sg:pub.10.1038/ng.2892
32 sg:pub.10.1038/ng.3050
33 sg:pub.10.1038/ng.3153
34 sg:pub.10.1038/nprot.2010.5
35 sg:pub.10.1038/nrc3635
36 sg:pub.10.1038/nrm2272
37 sg:pub.10.1186/1476-4598-5-41
38 https://app.dimensions.ai/details/publication/pub.1075955033
39 https://app.dimensions.ai/details/publication/pub.1077135044
40 https://app.dimensions.ai/details/publication/pub.1077918822
41 https://app.dimensions.ai/details/publication/pub.1080902982
42 https://doi.org/10.1002/ajmg.a.10174
43 https://doi.org/10.1002/ajmg.a.31544
44 https://doi.org/10.1002/ajmg.a.32034
45 https://doi.org/10.1002/ajmg.a.33574
46 https://doi.org/10.1002/ajmg.a.34030
47 https://doi.org/10.1002/ajmg.a.34184
48 https://doi.org/10.1002/ajmg.c.31412
49 https://doi.org/10.1002/humu.22376
50 https://doi.org/10.1002/humu.22555
51 https://doi.org/10.1002/jcc.20084
52 https://doi.org/10.1002/jcp.24435
53 https://doi.org/10.1016/0030-4220(64)90506-7
54 https://doi.org/10.1016/j.ajhg.2012.04.014
55 https://doi.org/10.1016/j.bbabio.2014.01.018
56 https://doi.org/10.1016/j.bpj.2014.01.035
57 https://doi.org/10.1016/j.ejmg.2013.08.004
58 https://doi.org/10.1016/j.ejmg.2013.09.009
59 https://doi.org/10.1016/j.febslet.2012.07.055
60 https://doi.org/10.1016/j.neuroscience.2008.05.019
61 https://doi.org/10.1016/s1474-4422(10)70059-4
62 https://doi.org/10.1042/bj3030191
63 https://doi.org/10.1073/pnas.89.8.3541
64 https://doi.org/10.1074/jbc.274.9.5362
65 https://doi.org/10.1074/jbc.m600883200
66 https://doi.org/10.1083/jcb.200911083
67 https://doi.org/10.1083/jcb.201303104
68 https://doi.org/10.1085/jgp.200810083
69 https://doi.org/10.1085/jgp.201210826
70 https://doi.org/10.1093/bioinformatics/btp324
71 https://doi.org/10.1093/hmg/ddt076
72 https://doi.org/10.1093/nar/gku340
73 https://doi.org/10.1097/mcd.0b013e3282f2514c
74 https://doi.org/10.1101/gr.107524.110
75 https://doi.org/10.1111/epi.12201
76 https://doi.org/10.1113/jphysiol.2014.281600
77 https://doi.org/10.1124/mol.111.071621
78 https://doi.org/10.1146/annurev-physiol-012110-142317
79 https://doi.org/10.1152/ajpcell.1993.265.4.c901
80 https://doi.org/10.1152/jn.00486.2004
81 https://doi.org/10.1371/journal.pgen.1003709
82 https://doi.org/10.1371/journal.pone.0026329
83 https://doi.org/10.1523/jneurosci.2307-13.2013
84 https://doi.org/10.3389/neuro.03.020.2009
85 https://doi.org/10.4161/fly.19695
86 https://doi.org/10.5402/2011/497850
87 schema:datePublished 2015-06
88 schema:datePublishedReg 2015-06-01
89 schema:description Zimmermann-Laband syndrome (ZLS) is a developmental disorder characterized by facial dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails and terminal phalanges, and hypertrichosis. We report that heterozygous missense mutations in KCNH1 account for a considerable proportion of ZLS. KCNH1 encodes the voltage-gated K(+) channel Eag1 (Kv10.1). Patch-clamp recordings showed strong negative shifts in voltage-dependent activation for all but one KCNH1 channel mutant (Gly469Arg). Coexpression of Gly469Arg with wild-type KCNH1 resulted in heterotetrameric channels with reduced conductance at positive potentials but pronounced conductance at negative potentials. These data support a gain-of-function effect for all ZLS-associated KCNH1 mutants. We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H(+) ATPase, in two individuals with ZLS. Structural analysis predicts a perturbing effect of the mutation on complex assembly. Our findings demonstrate that KCNH1 mutations cause ZLS and document genetic heterogeneity for this disorder.
90 schema:genre research_article
91 schema:inLanguage en
92 schema:isAccessibleForFree false
93 schema:isPartOf Nb6ded363a58c4ae9883f70c543612691
94 Nb913a5e8605946028ccadd79a2848bdf
95 sg:journal.1103138
96 schema:name Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
97 schema:pagination 661-667
98 schema:productId N0c8fd996b4c8435b807fc5a23178631e
99 N0fc8f9694def4e0d98022e3291707718
100 Nc5ff23ce32b449d2886aefba6f0e9c90
101 Nefad5652aaf94861872bf44249dea5da
102 Nf95a6882b9de4d1ab2a1ec9b3957efb5
103 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006325734
104 https://doi.org/10.1038/ng.3282
105 schema:sdDatePublished 2019-04-10T19:45
106 schema:sdLicense https://scigraph.springernature.com/explorer/license/
107 schema:sdPublisher N94933b0b351c48ac962123d29323691b
108 schema:url http://www.nature.com/articles/ng.3282
109 sgo:license sg:explorer/license/
110 sgo:sdDataset articles
111 rdf:type schema:ScholarlyArticle
112 N0c8fd996b4c8435b807fc5a23178631e schema:name readcube_id
113 schema:value 1e21934ff3d561b156e85221b93bc138f46a1093a2bf67ae8f3d8d13825d5aa7
114 rdf:type schema:PropertyValue
115 N0cf0e2d3ea8b4ce1a809301139243427 rdf:first sg:person.01020220225.58
116 rdf:rest Nb0a1ca2cb6294a1db6af3170c0e02921
117 N0fc8f9694def4e0d98022e3291707718 schema:name pubmed_id
118 schema:value 25915598
119 rdf:type schema:PropertyValue
120 N15bcfce7e08945628fbadb0ea83f2a41 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
121 schema:name Hand Deformities, Congenital
122 rdf:type schema:DefinedTerm
123 N1fee206261564f4ba6616997a5f633a0 schema:name Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada.
124 rdf:type schema:Organization
125 N28b996859271486288460deb2cbe3f07 rdf:first sg:person.01001607145.65
126 rdf:rest N594a36b79f354d838e8be5e290881464
127 N2b040e1f9f1c40cfbe5f689b082ce15f rdf:first sg:person.01167443402.43
128 rdf:rest rdf:nil
129 N2cac4726678b49b190c5b8aeda0dddc5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
130 schema:name Genetic Association Studies
131 rdf:type schema:DefinedTerm
132 N2f870ce19dda434d9d214101651a8256 rdf:first sg:person.01162000360.51
133 rdf:rest N8a4f35e420744b669a5d27654814dfed
134 N39503b55ea1a448c87775e98082133f5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
135 schema:name Craniofacial Abnormalities
136 rdf:type schema:DefinedTerm
137 N401f915cc5fa499eb8ddf0d4ca627ea1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
138 schema:name Codon, Nonsense
139 rdf:type schema:DefinedTerm
140 N4661e10d6bb54eb78d10877f089c1d1e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
141 schema:name Humans
142 rdf:type schema:DefinedTerm
143 N4dc0bf1a07a74377801ebcedc1c88ba3 rdf:first sg:person.01123741444.71
144 rdf:rest Nca134f7fd20b4bfd84eeee2707b5d01c
145 N4f060c7cb11e47ee9427ad974fc76473 rdf:first sg:person.01066744753.85
146 rdf:rest N76a4b77e0da246e3b37c0aa389de48bf
147 N4f99bdc49149422db15e9cc96f83072c schema:name Sainte-Justine Hospital Research Center, University of Montreal, Montreal, Quebec, Canada.
148 rdf:type schema:Organization
149 N56d07e30ab76436f9f24e815164478a7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
150 schema:name Vacuolar Proton-Translocating ATPases
151 rdf:type schema:DefinedTerm
152 N594a36b79f354d838e8be5e290881464 rdf:first sg:person.0636267753.02
153 rdf:rest Ne9516d3049b24cdcb31f993565e48828
154 N608519afcb234f949fe386a54046c669 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
155 schema:name Membrane Potentials
156 rdf:type schema:DefinedTerm
157 N639205b0de734777b8c509ec46ef0ba0 rdf:first sg:person.01242104663.69
158 rdf:rest N9cc4dedc02ec43619015d02dd1cf77f2
159 N666518a92477436c9f0b7901026d144f rdf:first sg:person.013463224011.23
160 rdf:rest N0cf0e2d3ea8b4ce1a809301139243427
161 N6763dbd1000d465f9b569bf03af1198f rdf:first sg:person.01347427301.02
162 rdf:rest N79ed93363dbd4fd490739194fa6deb74
163 N67dfa40b6d20467da71209746220aede schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
164 schema:name Ether-A-Go-Go Potassium Channels
165 rdf:type schema:DefinedTerm
166 N76a4b77e0da246e3b37c0aa389de48bf rdf:first sg:person.01131635212.19
167 rdf:rest Ne33459182934471897f0f644b18b5555
168 N79ed93363dbd4fd490739194fa6deb74 rdf:first sg:person.014264122672.19
169 rdf:rest Ncf023511f54547c4b5d51f66c8548077
170 N7c628f0ce75c4e66ad149b79a1aebdb1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
171 schema:name Protein Conformation
172 rdf:type schema:DefinedTerm
173 N832107abfa0e4306a6e380e246672c5e rdf:first sg:person.0615150260.09
174 rdf:rest N2f870ce19dda434d9d214101651a8256
175 N8a4f35e420744b669a5d27654814dfed rdf:first sg:person.01300407312.73
176 rdf:rest N2b040e1f9f1c40cfbe5f689b082ce15f
177 N90d6a906a9c9413686f86dd583bf8543 schema:name Ospedale Pediatrico Bambino Gesù–Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
178 rdf:type schema:Organization
179 N9463dd84968c449b9ff03a4511891c43 schema:name Ospedale Pediatrico Bambino Gesù–Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
180 rdf:type schema:Organization
181 N94933b0b351c48ac962123d29323691b schema:name Springer Nature - SN SciGraph project
182 rdf:type schema:Organization
183 N9af553e9929442feae77793a9721015e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
184 schema:name Mutation, Missense
185 rdf:type schema:DefinedTerm
186 N9c167269581f49aaa0e603ab496d4998 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
187 schema:name Female
188 rdf:type schema:DefinedTerm
189 N9cc4dedc02ec43619015d02dd1cf77f2 rdf:first sg:person.011762433350.18
190 rdf:rest N4dc0bf1a07a74377801ebcedc1c88ba3
191 Na99270c84a3b49fda855f8dd3f2f0cb5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
192 schema:name Models, Molecular
193 rdf:type schema:DefinedTerm
194 Nb0a1ca2cb6294a1db6af3170c0e02921 rdf:first sg:person.0722314545.26
195 rdf:rest N6763dbd1000d465f9b569bf03af1198f
196 Nb4e35b3643464281b8b0b2ff050b4cb4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
197 schema:name Cricetinae
198 rdf:type schema:DefinedTerm
199 Nb6ded363a58c4ae9883f70c543612691 schema:issueNumber 6
200 rdf:type schema:PublicationIssue
201 Nb913a5e8605946028ccadd79a2848bdf schema:volumeNumber 47
202 rdf:type schema:PublicationVolume
203 Nc23c5c88ab0f4519b88eb1fe3312032d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
204 schema:name Fibromatosis, Gingival
205 rdf:type schema:DefinedTerm
206 Nc331202cade44fbdb9e2d788ecbd2b46 schema:name Service de Pédiatrie, Centre Hospitalier Intercommunal de la Haute-Saône, Vesoul, France.
207 rdf:type schema:Organization
208 Nc4edcd8e213542ddb5b471fa7bee0c00 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
209 schema:name Abnormalities, Multiple
210 rdf:type schema:DefinedTerm
211 Nc5ff23ce32b449d2886aefba6f0e9c90 schema:name doi
212 schema:value 10.1038/ng.3282
213 rdf:type schema:PropertyValue
214 Nca134f7fd20b4bfd84eeee2707b5d01c rdf:first sg:person.01166013405.22
215 rdf:rest Ne408ea10e4174459a1cf17724c936ee6
216 Nccbe34fc7879435793b1baa9d2107d7f rdf:first sg:person.0612121222.23
217 rdf:rest N666518a92477436c9f0b7901026d144f
218 Ncf023511f54547c4b5d51f66c8548077 rdf:first sg:person.01306004460.66
219 rdf:rest N832107abfa0e4306a6e380e246672c5e
220 Ncff1b498290842b8ac2b9527a0633d9b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
221 schema:name Pedigree
222 rdf:type schema:DefinedTerm
223 Nd0e45330c8b840b0b00829cb14599762 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
224 schema:name Male
225 rdf:type schema:DefinedTerm
226 Nd6a5109c2e94441a80ae33bc210d81cd rdf:first sg:person.01140721253.41
227 rdf:rest N4f060c7cb11e47ee9427ad974fc76473
228 Nda1a5e7b44a64a1aa15194ead9ecc4ef schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
229 schema:name Animals
230 rdf:type schema:DefinedTerm
231 Ndd6af3df380a433ba3c3528a9cf43be7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
232 schema:name CHO Cells
233 rdf:type schema:DefinedTerm
234 Ne33459182934471897f0f644b18b5555 rdf:first sg:person.01065411114.84
235 rdf:rest N639205b0de734777b8c509ec46ef0ba0
236 Ne408ea10e4174459a1cf17724c936ee6 rdf:first sg:person.0746542075.21
237 rdf:rest Nccbe34fc7879435793b1baa9d2107d7f
238 Ne9516d3049b24cdcb31f993565e48828 rdf:first sg:person.01165536653.59
239 rdf:rest Nd6a5109c2e94441a80ae33bc210d81cd
240 Nefad5652aaf94861872bf44249dea5da schema:name nlm_unique_id
241 schema:value 9216904
242 rdf:type schema:PropertyValue
243 Nf0c647a3ba7e4303abe4fae0e697bf59 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
244 schema:name Cricetulus
245 rdf:type schema:DefinedTerm
246 Nf564c2f613094e708fadde6ce6f13e3e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
247 schema:name Xenopus laevis
248 rdf:type schema:DefinedTerm
249 Nf95a6882b9de4d1ab2a1ec9b3957efb5 schema:name dimensions_id
250 schema:value pub.1006325734
251 rdf:type schema:PropertyValue
252 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
253 schema:name Biological Sciences
254 rdf:type schema:DefinedTerm
255 anzsrc-for:0601 schema:inDefinedTermSet anzsrc-for:
256 schema:name Biochemistry and Cell Biology
257 rdf:type schema:DefinedTerm
258 sg:journal.1103138 schema:issn 1061-4036
259 1546-1718
260 schema:name Nature Genetics
261 rdf:type schema:Periodical
262 sg:person.01001607145.65 schema:affiliation https://www.grid.ac/institutes/grid.13648.38
263 schema:familyName Kortüm
264 schema:givenName Fanny
265 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01001607145.65
266 rdf:type schema:Person
267 sg:person.01020220225.58 schema:affiliation https://www.grid.ac/institutes/grid.412431.1
268 schema:familyName Nair
269 schema:givenName Lal D V
270 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01020220225.58
271 rdf:type schema:Person
272 sg:person.01065411114.84 schema:affiliation https://www.grid.ac/institutes/grid.6530.0
273 schema:familyName Bocchinfuso
274 schema:givenName Gianfranco
275 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01065411114.84
276 rdf:type schema:Person
277 sg:person.01066744753.85 schema:affiliation https://www.grid.ac/institutes/grid.416651.1
278 schema:familyName Ciolfi
279 schema:givenName Andrea
280 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01066744753.85
281 rdf:type schema:Person
282 sg:person.01123741444.71 schema:affiliation N90d6a906a9c9413686f86dd583bf8543
283 schema:familyName Dentici
284 schema:givenName Maria Lisa
285 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01123741444.71
286 rdf:type schema:Person
287 sg:person.01131635212.19 schema:affiliation https://www.grid.ac/institutes/grid.418481.0
288 schema:familyName Alawi
289 schema:givenName Malik
290 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01131635212.19
291 rdf:type schema:Person
292 sg:person.01140721253.41 schema:affiliation https://www.grid.ac/institutes/grid.6530.0
293 schema:familyName Stella
294 schema:givenName Lorenzo
295 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01140721253.41
296 rdf:type schema:Person
297 sg:person.01162000360.51 schema:affiliation N1fee206261564f4ba6616997a5f633a0
298 schema:familyName Campeau
299 schema:givenName Philippe M
300 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01162000360.51
301 rdf:type schema:Person
302 sg:person.01165536653.59 schema:affiliation https://www.grid.ac/institutes/grid.13648.38
303 schema:familyName Bauer
304 schema:givenName Christiane K
305 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165536653.59
306 rdf:type schema:Person
307 sg:person.01166013405.22 schema:affiliation https://www.grid.ac/institutes/grid.7841.a
308 schema:familyName Grammatico
309 schema:givenName Paola
310 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166013405.22
311 rdf:type schema:Person
312 sg:person.01167443402.43 schema:affiliation https://www.grid.ac/institutes/grid.13648.38
313 schema:familyName Kutsche
314 schema:givenName Kerstin
315 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167443402.43
316 rdf:type schema:Person
317 sg:person.011762433350.18 schema:affiliation https://www.grid.ac/institutes/grid.416651.1
318 schema:familyName Paolacci
319 schema:givenName Stefano
320 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011762433350.18
321 rdf:type schema:Person
322 sg:person.01242104663.69 schema:affiliation https://www.grid.ac/institutes/grid.416651.1
323 schema:familyName Flex
324 schema:givenName Elisabetta
325 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01242104663.69
326 rdf:type schema:Person
327 sg:person.01300407312.73 schema:affiliation https://www.grid.ac/institutes/grid.416651.1
328 schema:familyName Tartaglia
329 schema:givenName Marco
330 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01300407312.73
331 rdf:type schema:Person
332 sg:person.01306004460.66 schema:affiliation N9463dd84968c449b9ff03a4511891c43
333 schema:familyName Dallapiccola
334 schema:givenName Bruno
335 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01306004460.66
336 rdf:type schema:Person
337 sg:person.013463224011.23 schema:affiliation https://www.grid.ac/institutes/grid.1005.4
338 schema:familyName Mowat
339 schema:givenName David
340 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013463224011.23
341 rdf:type schema:Person
342 sg:person.01347427301.02 schema:affiliation Nc331202cade44fbdb9e2d788ecbd2b46
343 schema:familyName Thierry
344 schema:givenName Patrick
345 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01347427301.02
346 rdf:type schema:Person
347 sg:person.014264122672.19 schema:affiliation https://www.grid.ac/institutes/grid.1008.9
348 schema:familyName White
349 schema:givenName Susan M
350 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014264122672.19
351 rdf:type schema:Person
352 sg:person.0612121222.23 schema:affiliation https://www.grid.ac/institutes/grid.7841.a
353 schema:familyName Leuzzi
354 schema:givenName Vincenzo
355 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0612121222.23
356 rdf:type schema:Person
357 sg:person.0615150260.09 schema:affiliation https://www.grid.ac/institutes/grid.7841.a
358 schema:familyName Pizzuti
359 schema:givenName Antonio
360 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0615150260.09
361 rdf:type schema:Person
362 sg:person.0636267753.02 schema:affiliation https://www.grid.ac/institutes/grid.7841.a
363 schema:familyName Caputo
364 schema:givenName Viviana
365 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0636267753.02
366 rdf:type schema:Person
367 sg:person.0722314545.26 schema:affiliation N4f99bdc49149422db15e9cc96f83072c
368 schema:familyName Nguyen
369 schema:givenName Thi Tuyet Mai
370 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0722314545.26
371 rdf:type schema:Person
372 sg:person.0746542075.21 schema:affiliation https://www.grid.ac/institutes/grid.419838.f
373 schema:familyName Korenke
374 schema:givenName Georg Christoph
375 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746542075.21
376 rdf:type schema:Person
377 sg:pub.10.1007/s00232-001-0031-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020744342
378 https://doi.org/10.1007/s00232-001-0031-3
379 rdf:type schema:CreativeWork
380 sg:pub.10.1007/s00232-007-9080-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052736063
381 https://doi.org/10.1007/s00232-007-9080-6
382 rdf:type schema:CreativeWork
383 sg:pub.10.1038/cr.2014.77 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050757455
384 https://doi.org/10.1038/cr.2014.77
385 rdf:type schema:CreativeWork
386 sg:pub.10.1038/ki.2008.96 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021613986
387 https://doi.org/10.1038/ki.2008.96
388 rdf:type schema:CreativeWork
389 sg:pub.10.1038/nature11778 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011253559
390 https://doi.org/10.1038/nature11778
391 rdf:type schema:CreativeWork
392 sg:pub.10.1038/ng.2324 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012685651
393 https://doi.org/10.1038/ng.2324
394 rdf:type schema:CreativeWork
395 sg:pub.10.1038/ng.2892 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050728268
396 https://doi.org/10.1038/ng.2892
397 rdf:type schema:CreativeWork
398 sg:pub.10.1038/ng.3050 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031523622
399 https://doi.org/10.1038/ng.3050
400 rdf:type schema:CreativeWork
401 sg:pub.10.1038/ng.3153 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003177461
402 https://doi.org/10.1038/ng.3153
403 rdf:type schema:CreativeWork
404 sg:pub.10.1038/nprot.2010.5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006999469
405 https://doi.org/10.1038/nprot.2010.5
406 rdf:type schema:CreativeWork
407 sg:pub.10.1038/nrc3635 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042579945
408 https://doi.org/10.1038/nrc3635
409 rdf:type schema:CreativeWork
410 sg:pub.10.1038/nrm2272 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028478435
411 https://doi.org/10.1038/nrm2272
412 rdf:type schema:CreativeWork
413 sg:pub.10.1186/1476-4598-5-41 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040572249
414 https://doi.org/10.1186/1476-4598-5-41
415 rdf:type schema:CreativeWork
416 https://app.dimensions.ai/details/publication/pub.1075955033 schema:CreativeWork
417 https://app.dimensions.ai/details/publication/pub.1077135044 schema:CreativeWork
418 https://app.dimensions.ai/details/publication/pub.1077918822 schema:CreativeWork
419 https://app.dimensions.ai/details/publication/pub.1080902982 schema:CreativeWork
420 https://doi.org/10.1002/ajmg.a.10174 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024828114
421 rdf:type schema:CreativeWork
422 https://doi.org/10.1002/ajmg.a.31544 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037479064
423 rdf:type schema:CreativeWork
424 https://doi.org/10.1002/ajmg.a.32034 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007509295
425 rdf:type schema:CreativeWork
426 https://doi.org/10.1002/ajmg.a.33574 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045504357
427 rdf:type schema:CreativeWork
428 https://doi.org/10.1002/ajmg.a.34030 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026415507
429 rdf:type schema:CreativeWork
430 https://doi.org/10.1002/ajmg.a.34184 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039491858
431 rdf:type schema:CreativeWork
432 https://doi.org/10.1002/ajmg.c.31412 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026408067
433 rdf:type schema:CreativeWork
434 https://doi.org/10.1002/humu.22376 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024997401
435 rdf:type schema:CreativeWork
436 https://doi.org/10.1002/humu.22555 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047397943
437 rdf:type schema:CreativeWork
438 https://doi.org/10.1002/jcc.20084 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008225564
439 rdf:type schema:CreativeWork
440 https://doi.org/10.1002/jcp.24435 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011156827
441 rdf:type schema:CreativeWork
442 https://doi.org/10.1016/0030-4220(64)90506-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030745997
443 rdf:type schema:CreativeWork
444 https://doi.org/10.1016/j.ajhg.2012.04.014 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027687819
445 rdf:type schema:CreativeWork
446 https://doi.org/10.1016/j.bbabio.2014.01.018 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029907793
447 rdf:type schema:CreativeWork
448 https://doi.org/10.1016/j.bpj.2014.01.035 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046270747
449 rdf:type schema:CreativeWork
450 https://doi.org/10.1016/j.ejmg.2013.08.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050722171
451 rdf:type schema:CreativeWork
452 https://doi.org/10.1016/j.ejmg.2013.09.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033184208
453 rdf:type schema:CreativeWork
454 https://doi.org/10.1016/j.febslet.2012.07.055 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010022265
455 rdf:type schema:CreativeWork
456 https://doi.org/10.1016/j.neuroscience.2008.05.019 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044109755
457 rdf:type schema:CreativeWork
458 https://doi.org/10.1016/s1474-4422(10)70059-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025920078
459 rdf:type schema:CreativeWork
460 https://doi.org/10.1042/bj3030191 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034940036
461 rdf:type schema:CreativeWork
462 https://doi.org/10.1073/pnas.89.8.3541 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022769619
463 rdf:type schema:CreativeWork
464 https://doi.org/10.1074/jbc.274.9.5362 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026587859
465 rdf:type schema:CreativeWork
466 https://doi.org/10.1074/jbc.m600883200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017654081
467 rdf:type schema:CreativeWork
468 https://doi.org/10.1083/jcb.200911083 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006278298
469 rdf:type schema:CreativeWork
470 https://doi.org/10.1083/jcb.201303104 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010217368
471 rdf:type schema:CreativeWork
472 https://doi.org/10.1085/jgp.200810083 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001533305
473 rdf:type schema:CreativeWork
474 https://doi.org/10.1085/jgp.201210826 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002222457
475 rdf:type schema:CreativeWork
476 https://doi.org/10.1093/bioinformatics/btp324 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038266369
477 rdf:type schema:CreativeWork
478 https://doi.org/10.1093/hmg/ddt076 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038653795
479 rdf:type schema:CreativeWork
480 https://doi.org/10.1093/nar/gku340 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052806377
481 rdf:type schema:CreativeWork
482 https://doi.org/10.1097/mcd.0b013e3282f2514c schema:sameAs https://app.dimensions.ai/details/publication/pub.1011074589
483 rdf:type schema:CreativeWork
484 https://doi.org/10.1101/gr.107524.110 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032096953
485 rdf:type schema:CreativeWork
486 https://doi.org/10.1111/epi.12201 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038295194
487 rdf:type schema:CreativeWork
488 https://doi.org/10.1113/jphysiol.2014.281600 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008285775
489 rdf:type schema:CreativeWork
490 https://doi.org/10.1124/mol.111.071621 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052918783
491 rdf:type schema:CreativeWork
492 https://doi.org/10.1146/annurev-physiol-012110-142317 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024230206
493 rdf:type schema:CreativeWork
494 https://doi.org/10.1152/ajpcell.1993.265.4.c901 schema:sameAs https://app.dimensions.ai/details/publication/pub.1082716851
495 rdf:type schema:CreativeWork
496 https://doi.org/10.1152/jn.00486.2004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048642877
497 rdf:type schema:CreativeWork
498 https://doi.org/10.1371/journal.pgen.1003709 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013368129
499 rdf:type schema:CreativeWork
500 https://doi.org/10.1371/journal.pone.0026329 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002951060
501 rdf:type schema:CreativeWork
502 https://doi.org/10.1523/jneurosci.2307-13.2013 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022538912
503 rdf:type schema:CreativeWork
504 https://doi.org/10.3389/neuro.03.020.2009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045165545
505 rdf:type schema:CreativeWork
506 https://doi.org/10.4161/fly.19695 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046734556
507 rdf:type schema:CreativeWork
508 https://doi.org/10.5402/2011/497850 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013661238
509 rdf:type schema:CreativeWork
510 https://www.grid.ac/institutes/grid.1005.4 schema:alternateName UNSW Australia
511 schema:name Department of Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.
512 School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales, Sydney, New South Wales, Australia.
513 rdf:type schema:Organization
514 https://www.grid.ac/institutes/grid.1008.9 schema:alternateName University of Melbourne
515 schema:name Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
516 Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
517 rdf:type schema:Organization
518 https://www.grid.ac/institutes/grid.13648.38 schema:alternateName University Medical Center Hamburg-Eppendorf
519 schema:name Department of Cellular and Integrative Physiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
520 Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
521 rdf:type schema:Organization
522 https://www.grid.ac/institutes/grid.412431.1 schema:alternateName Saveetha University
523 schema:name Department of Pediatrics, Saveetha Medical College and Hospital, Saveetha University, Chennai, India.
524 rdf:type schema:Organization
525 https://www.grid.ac/institutes/grid.416651.1 schema:alternateName Istituto Superiore di Sanità
526 schema:name Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
527 Dipartimento di Medicina Sperimentale, Università La Sapienza, Rome, Italy.
528 Ospedale Pediatrico Bambino Gesù–Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
529 rdf:type schema:Organization
530 https://www.grid.ac/institutes/grid.418481.0 schema:alternateName Heinrich-Pette-Institute
531 schema:name Center for Bioinformatics, University of Hamburg, Hamburg, Germany.
532 Heinrich Pette Institute, Leibniz Institute for Experimental Virology, Virus Genomics, Hamburg, Germany.
533 University Medical Center Hamburg-Eppendorf, Bioinformatics Service Facility, Hamburg, Germany.
534 rdf:type schema:Organization
535 https://www.grid.ac/institutes/grid.419838.f schema:alternateName Klinikum Oldenburg
536 schema:name Zentrum für Kinder- und Jugendmedizin, Neuropädiatrie, Klinikum Oldenburg, Oldenburg, Germany.
537 rdf:type schema:Organization
538 https://www.grid.ac/institutes/grid.6530.0 schema:alternateName University of Rome Tor Vergata
539 schema:name Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.
540 rdf:type schema:Organization
541 https://www.grid.ac/institutes/grid.7841.a schema:alternateName Sapienza University of Rome
542 schema:name Dipartimento di Medicina Molecolare, Università La Sapienza, Ospedale San Camillo-Forlanini, Rome, Italy.
543 Dipartimento di Medicina Sperimentale, Università La Sapienza, Rome, Italy.
544 Dipartimento di Pediatria e Neuropsichiatria Infantile, Università La Sapienza, Rome, Italy.
545 rdf:type schema:Organization
 




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


...