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

MARC21 XML

<?xml version='1.0' encoding='UTF-8'?>
<record xmlns="http://www.loc.gov/MARC21/slim">
  <leader>00000nam##2200000uu#4500</leader>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Ashraf, Shazia</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Wan, Xiaoyang</subfield>
    <subfield code="u">Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Vega-Warner, Virginia</subfield>
    <subfield code="u">Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Esteve-Rudd, Julian</subfield>
    <subfield code="u">Univ Calif Los Angeles, Jules Stein Eye Inst, David Geffen Sch Med, Los Angeles, CA 90095 USA</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Lovric, Svjetlana</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Fang, Humphrey</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Hurd, Toby W.</subfield>
    <subfield code="u">Univ Edinburgh, Inst Genet &amp; Mol Med, Human Genet Unit, MRC, Edinburgh EH4 2XU, Midlothian, Scotland</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Sadowski, Carolin E.</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Allen, Susan J.</subfield>
    <subfield code="u">Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Otto, Edgar A.</subfield>
    <subfield code="u">Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Korkmaz, Emine</subfield>
    <subfield code="u">Hacettepe Univ, Nephrogenet Lab, Fac Med, TR-06100 Ankara, Turkey</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Washburn, Joseph</subfield>
    <subfield code="u">Univ Michigan, Biomed Res Core Facil, Ann Arbor, MI 48109 USA</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Levy, Shawn</subfield>
    <subfield code="u">HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Williams, David S.</subfield>
    <subfield code="u">Univ Calif Los Angeles, Jules Stein Eye Inst, David Geffen Sch Med, Los Angeles, CA 90095 USA</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Bakkaloglu, Sevcan A.</subfield>
    <subfield code="u">Gazi Univ, Dept Pediat Nephrol, Fac Med, TR-06570 Ankara, Turkey</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Zolotnitskaya, Anna</subfield>
    <subfield code="u">New York Med Coll, Valhalla, NY 10595 USA</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Ozaltin, Fatih</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Zhou, Weibin</subfield>
    <subfield code="u">Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Hildebrandt, Friedhelm</subfield>
  </datafield>
  <datafield tag="909" ind1="C" ind2="4">
    <subfield code="p">AMERICAN JOURNAL OF HUMAN GENETICS</subfield>
    <subfield code="v">94</subfield>
    <subfield code="n">6</subfield>
    <subfield code="c">884-890</subfield>
  </datafield>
  <datafield tag="980" ind1=" " ind2=" ">
    <subfield code="a">user-tubitak-destekli-proje-yayinlari</subfield>
  </datafield>
  <datafield tag="540" ind1=" " ind2=" ">
    <subfield code="a">Creative Commons Attribution</subfield>
    <subfield code="u">http://www.opendefinition.org/licenses/cc-by</subfield>
  </datafield>
  <datafield tag="024" ind1=" " ind2=" ">
    <subfield code="a">10.1016/j.ajhg.2014.04.010</subfield>
    <subfield code="2">doi</subfield>
  </datafield>
  <datafield tag="245" ind1=" " ind2=" ">
    <subfield code="a">Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome</subfield>
  </datafield>
  <datafield tag="100" ind1=" " ind2=" ">
    <subfield code="a">Gee, Heon Yung</subfield>
  </datafield>
  <datafield tag="909" ind1="C" ind2="O">
    <subfield code="o">oai:zenodo.org:65183</subfield>
    <subfield code="p">user-tubitak-destekli-proje-yayinlari</subfield>
  </datafield>
  <datafield tag="650" ind1="1" ind2="7">
    <subfield code="2">opendefinition.org</subfield>
    <subfield code="a">cc-by</subfield>
  </datafield>
  <datafield tag="260" ind1=" " ind2=" ">
    <subfield code="c">2014-01-01</subfield>
  </datafield>
  <datafield tag="856" ind1="4" ind2=" ">
    <subfield code="u">https://aperta.ulakbim.gov.trrecord/65183/files/bib-1e2da2b8-50b7-4b89-9d22-e519672338ed.txt</subfield>
    <subfield code="z">md5:4d99812f700eb873d91a42ee2ea3f7ff</subfield>
    <subfield code="s">376</subfield>
  </datafield>
  <datafield tag="542" ind1=" " ind2=" ">
    <subfield code="l">open</subfield>
  </datafield>
  <controlfield tag="005">20210316020420.0</controlfield>
  <controlfield tag="001">65183</controlfield>
  <datafield tag="980" ind1=" " ind2=" ">
    <subfield code="a">publication</subfield>
    <subfield code="b">article</subfield>
  </datafield>
  <datafield tag="520" ind1=" " ind2=" ">
    <subfield code="a">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.</subfield>
  </datafield>
</record>