1 Ocak 2021 Dergi makalesi Açık Erişim

Demirci, Deniz Kanca; Darendeliler, Feyza; Poyrazoglu, Sukran; Al, Asli Derya Kardelen; Gul, Nurdan; Tutuncu, Yildiz; Gulfidan, Gizem; Arga, Kazim Yalcin; Cacina, Canan; Ozturk, Oguz; Aydogan, Hulya Yilmaz; Satman, Ilhan

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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/230806</identifier>
  <creators>
    <creator>
      <creatorName>Demirci, Deniz Kanca</creatorName>
      <givenName>Deniz Kanca</givenName>
      <familyName>Demirci</familyName>
    </creator>
    <creator>
      <creatorName>Darendeliler, Feyza</creatorName>
      <givenName>Feyza</givenName>
      <familyName>Darendeliler</familyName>
      <affiliation>Istanbul Univ, Istanbul Fac Med, Dept Pediat, Pediat Endocrinol Unit, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Poyrazoglu, Sukran</creatorName>
      <givenName>Sukran</givenName>
      <familyName>Poyrazoglu</familyName>
      <affiliation>Istanbul Univ, Istanbul Fac Med, Dept Pediat, Pediat Endocrinol Unit, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Al, Asli Derya Kardelen</creatorName>
      <givenName>Asli Derya Kardelen</givenName>
      <familyName>Al</familyName>
      <affiliation>Istanbul Univ, Istanbul Fac Med, Dept Pediat, Pediat Endocrinol Unit, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Gul, Nurdan</creatorName>
      <givenName>Nurdan</givenName>
      <familyName>Gul</familyName>
      <affiliation>Istanbul Univ, Istanbul Fac Med, Dept Internal Med, Div Endocrinol &amp; Metab, Turgut Ozal Millet Caddesi, TR-34093 Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Tutuncu, Yildiz</creatorName>
      <givenName>Yildiz</givenName>
      <familyName>Tutuncu</familyName>
    </creator>
    <creator>
      <creatorName>Gulfidan, Gizem</creatorName>
      <givenName>Gizem</givenName>
      <familyName>Gulfidan</familyName>
      <affiliation>Marmara Univ, Fac Engn, Dept Bioengn, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Arga, Kazim Yalcin</creatorName>
      <givenName>Kazim Yalcin</givenName>
      <familyName>Arga</familyName>
    </creator>
    <creator>
      <creatorName>Cacina, Canan</creatorName>
      <givenName>Canan</givenName>
      <familyName>Cacina</familyName>
      <affiliation>Istanbul Univ, Aziz Sancar Inst Expt Med, Dept Mol Med, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Ozturk, Oguz</creatorName>
      <givenName>Oguz</givenName>
      <familyName>Ozturk</familyName>
      <affiliation>Istanbul Univ, Aziz Sancar Inst Expt Med, Dept Mol Med, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Aydogan, Hulya Yilmaz</creatorName>
      <givenName>Hulya Yilmaz</givenName>
      <familyName>Aydogan</familyName>
      <affiliation>Istanbul Univ, Aziz Sancar Inst Expt Med, Dept Mol Med, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Satman, Ilhan</creatorName>
      <givenName>Ilhan</givenName>
      <familyName>Satman</familyName>
    </creator>
  </creators>
  <titles>
    <title>Monogenic Childhood Diabetes: Dissecting Clinical Heterogeneity By Next-Generation Sequencing In Maturity-Onset Diabetes Of The Young</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2021</publicationYear>
  <dates>
    <date dateType="Issued">2021-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/230806</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1089/omi.2021.0081</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">Diabetes is a common disorder with a heterogeneous clinical presentation and an enormous burden on health care worldwide. About 1-6% of patients with diabetes suffer from maturity-onset diabetes of the young (MODY), the most common form of monogenic diabetes with autosomal dominant inheritance. MODY is genetically and clinically heterogeneous and caused by genetic variations in pancreatic beta-cell development and insulin secretion. We report here new findings from targeted next-generation sequencing (NGS) of 13 MODY-related genes. A sample of 22 unrelated pediatric patients with MODY and 13 unrelated healthy controls were recruited from a Turkish population. Targeted NGS was performed with Miseq 4000 (Illumina) to identify genetic variations in 13 MODY-related genes: HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, and KCNJ11. The NGS data were analyzed adhering to the Genome Analysis ToolKit (GATK) best practices pipeline, and variant filtering and annotation were performed. In the patient sample, we identified 43 MODY-specific genetic variations that were not present in the control group, including 11 missense mutations and 4 synonymous mutations. Importantly, and to the best of our knowledge, the missense mutations NEUROD1 p.D202E, KFL11 p.R461Q, BLK p.G248R, and KCNJ11 p.S385F were first associated with MODY in the present study. These findings contribute to the worldwide knowledge base on MODY and molecular correlates of clinical heterogeneity in monogenic childhood diabetes. Further comparative population genetics and functional genomics studies are called for, with an eye to discovery of novel diagnostics and personalized medicine in MODY. Because MODY is often misdiagnosed as type 1 or type 2 diabetes mellitus, advances in MODY diagnostics with NGS stand to benefit diabetes overall clinical care as well.</description>
  </descriptions>
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