1 Ocak 2014 Dergi makalesi Açık Erişim

Gee, Heon Yung; Ashraf, Shazia; Wan, Xiaoyang; Vega-Warner, Virginia; Esteve-Rudd, Julian; Lovric, Svjetlana; Fang, Humphrey; Hurd, Toby W.; Sadowski, Carolin E.; Allen, Susan J.; Otto, Edgar A.; Korkmaz, Emine; Washburn, Joseph; Levy, Shawn; Williams, David S.; Bakkaloglu, Sevcan A.; Zolotnitskaya, Anna; Ozaltin, Fatih; Zhou, Weibin; Hildebrandt, Friedhelm

DataCite XML

<?xml version='1.0' encoding='utf-8'?>
<resource xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns="http://datacite.org/schema/kernel-4" xsi:schemaLocation="http://datacite.org/schema/kernel-4 http://schema.datacite.org/meta/kernel-4.1/metadata.xsd">
  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/65183</identifier>
  <creators>
    <creator>
      <creatorName>Gee, Heon Yung</creatorName>
      <givenName>Heon Yung</givenName>
      <familyName>Gee</familyName>
    </creator>
    <creator>
      <creatorName>Ashraf, Shazia</creatorName>
      <givenName>Shazia</givenName>
      <familyName>Ashraf</familyName>
    </creator>
    <creator>
      <creatorName>Wan, Xiaoyang</creatorName>
      <givenName>Xiaoyang</givenName>
      <familyName>Wan</familyName>
      <affiliation>Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Vega-Warner, Virginia</creatorName>
      <givenName>Virginia</givenName>
      <familyName>Vega-Warner</familyName>
      <affiliation>Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Esteve-Rudd, Julian</creatorName>
      <givenName>Julian</givenName>
      <familyName>Esteve-Rudd</familyName>
      <affiliation>Univ Calif Los Angeles, Jules Stein Eye Inst, David Geffen Sch Med, Los Angeles, CA 90095 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Lovric, Svjetlana</creatorName>
      <givenName>Svjetlana</givenName>
      <familyName>Lovric</familyName>
    </creator>
    <creator>
      <creatorName>Fang, Humphrey</creatorName>
      <givenName>Humphrey</givenName>
      <familyName>Fang</familyName>
    </creator>
    <creator>
      <creatorName>Hurd, Toby W.</creatorName>
      <givenName>Toby W.</givenName>
      <familyName>Hurd</familyName>
      <affiliation>Univ Edinburgh, Inst Genet &amp; Mol Med, Human Genet Unit, MRC, Edinburgh EH4 2XU, Midlothian, Scotland</affiliation>
    </creator>
    <creator>
      <creatorName>Sadowski, Carolin E.</creatorName>
      <givenName>Carolin E.</givenName>
      <familyName>Sadowski</familyName>
    </creator>
    <creator>
      <creatorName>Allen, Susan J.</creatorName>
      <givenName>Susan J.</givenName>
      <familyName>Allen</familyName>
      <affiliation>Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Otto, Edgar A.</creatorName>
      <givenName>Edgar A.</givenName>
      <familyName>Otto</familyName>
      <affiliation>Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Korkmaz, Emine</creatorName>
      <givenName>Emine</givenName>
      <familyName>Korkmaz</familyName>
      <affiliation>Hacettepe Univ, Nephrogenet Lab, Fac Med, TR-06100 Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Washburn, Joseph</creatorName>
      <givenName>Joseph</givenName>
      <familyName>Washburn</familyName>
      <affiliation>Univ Michigan, Biomed Res Core Facil, Ann Arbor, MI 48109 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Levy, Shawn</creatorName>
      <givenName>Shawn</givenName>
      <familyName>Levy</familyName>
      <affiliation>HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Williams, David S.</creatorName>
      <givenName>David S.</givenName>
      <familyName>Williams</familyName>
      <affiliation>Univ Calif Los Angeles, Jules Stein Eye Inst, David Geffen Sch Med, Los Angeles, CA 90095 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Bakkaloglu, Sevcan A.</creatorName>
      <givenName>Sevcan A.</givenName>
      <familyName>Bakkaloglu</familyName>
      <affiliation>Gazi Univ, Dept Pediat Nephrol, Fac Med, TR-06570 Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Zolotnitskaya, Anna</creatorName>
      <givenName>Anna</givenName>
      <familyName>Zolotnitskaya</familyName>
      <affiliation>New York Med Coll, Valhalla, NY 10595 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Ozaltin, Fatih</creatorName>
      <givenName>Fatih</givenName>
      <familyName>Ozaltin</familyName>
    </creator>
    <creator>
      <creatorName>Zhou, Weibin</creatorName>
      <givenName>Weibin</givenName>
      <familyName>Zhou</familyName>
      <affiliation>Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Hildebrandt, Friedhelm</creatorName>
      <givenName>Friedhelm</givenName>
      <familyName>Hildebrandt</familyName>
    </creator>
  </creators>
  <titles>
    <title>Mutations In Emp2 Cause Childhood-Onset Nephrotic Syndrome</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2014</publicationYear>
  <dates>
    <date dateType="Issued">2014-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/65183</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1016/j.ajhg.2014.04.010</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into steroid-sensitive NS (SSNS) and steroid-resistant NS (SRNS). SRNS inevitably leads to end-stage kidney disease, and no curative treatment is available. To date, mutations in more than 24 genes have been described in Mendelian forms of SRNS; however, no Mendelian form of SSNS has been described. To identify a genetic form of SSNS, we performed homozygosity mapping, whole-exome sequencing, and multiplex PCR followed by next-generation sequencing. We thereby detected biallelic mutations in EMP2 (epithelial membrane protein 2) in four individuals from three unrelated families affected by SRNS or SSNS. We showed that EMP2 exclusively localized to glomeruli in the kidney. Knockdown of emp2 in zebrafish resulted in pericardial effusion, supporting the pathogenic role of mutated EMP2 in human NS. At the cellular level, we showed that knockdown of EMP2 in podocytes and endothelial cells resulted in an increased amount of CAVEOLIN-1 and decreased cell proliferation. Our data therefore identify EMP2 mutations as causing a recessive Mendelian form of SSNS.</description>
  </descriptions>
</resource>