Dergi makalesi Açık Erişim

Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicine

Gulbakan, Basri; Ozgul, Riza Koksal; Yuzbasioglu, Ayse; Kohl, Matthias; Deigner, Hans-Peter; Ozguc, Meral


MARC21 XML

<?xml version='1.0' encoding='UTF-8'?>
<record xmlns="http://www.loc.gov/MARC21/slim">
  <leader>00000nam##2200000uu#4500</leader>
  <datafield tag="909" ind1="C" ind2="O">
    <subfield code="p">user-tubitak-destekli-proje-yayinlari</subfield>
    <subfield code="o">oai:zenodo.org:53875</subfield>
  </datafield>
  <datafield tag="520" ind1=" " ind2=" ">
    <subfield code="a">There are more than 8000 rare diseases (RDs) that affect &amp;gt;5 % of the world's population. Many of the RDs have no effective treatment and lack of knowledge creates delayed diagnosis making management difficult. The emerging concept of the personalized medicine allows for early screening, diagnosis, and individualized treatment of human diseases. In this context, the discovery of biomarkers in RDs will be of prime importance to enable timely prevention and effective treatment. Since 80 % of RDs are of genetic origin, identification of new genes and causative mutations become valuable biomarkers. Furthermore, dynamic markers such as expressed genes, metabolites, and proteins are also very important to follow prognosis and response the therapy. Recent advances in omics technologies and their use in combination can define pathophysiological pathways that can be drug targets. Biomarker discovery and their use in diagnosis in RDs is a major pillar in RD research.</subfield>
  </datafield>
  <datafield tag="980" ind1=" " ind2=" ">
    <subfield code="a">publication</subfield>
    <subfield code="b">article</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="100" ind1=" " ind2=" ">
    <subfield code="a">Gulbakan, Basri</subfield>
    <subfield code="u">Hacettepe Univ, Inst Child Hlth, Pediat Metab Unit, Ankara, Turkey</subfield>
  </datafield>
  <datafield tag="856" ind1="4" ind2=" ">
    <subfield code="z">md5:741b5dc4e13966626ba90cac08218120</subfield>
    <subfield code="s">211</subfield>
    <subfield code="u">https://aperta.ulakbim.gov.trrecord/53875/files/bib-59a4cf4a-e199-440f-93dc-3919821b3ed2.txt</subfield>
  </datafield>
  <controlfield tag="005">20210315232920.0</controlfield>
  <datafield tag="260" ind1=" " ind2=" ">
    <subfield code="c">2016-01-01</subfield>
  </datafield>
  <datafield tag="024" ind1=" " ind2=" ">
    <subfield code="a">10.1186/s13167-016-0074-2</subfield>
    <subfield code="2">doi</subfield>
  </datafield>
  <datafield tag="542" ind1=" " ind2=" ">
    <subfield code="l">open</subfield>
  </datafield>
  <datafield tag="245" ind1=" " ind2=" ">
    <subfield code="a">Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicine</subfield>
  </datafield>
  <datafield tag="909" ind1="C" ind2="4">
    <subfield code="v">7</subfield>
    <subfield code="p">EPMA JOURNAL</subfield>
  </datafield>
  <datafield tag="650" ind1="1" ind2="7">
    <subfield code="a">cc-by</subfield>
    <subfield code="2">opendefinition.org</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Ozgul, Riza Koksal</subfield>
    <subfield code="u">Hacettepe Univ, Inst Child Hlth, Pediat Metab Unit, Ankara, Turkey</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Yuzbasioglu, Ayse</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Kohl, Matthias</subfield>
    <subfield code="u">Furtwangen Univ, Inst Precis Med, Med &amp; Life Sci Fac, Villingen Schwenningen, Germany</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Deigner, Hans-Peter</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Ozguc, Meral</subfield>
  </datafield>
  <controlfield tag="001">53875</controlfield>
  <datafield tag="980" ind1=" " ind2=" ">
    <subfield code="a">user-tubitak-destekli-proje-yayinlari</subfield>
  </datafield>
</record>
140
7
görüntülenme
indirilme
Görüntülenme 140
İndirme 7
Veri hacmi 1.5 kB
Tekil görüntülenme 133
Tekil indirme 7

Alıntı yap