Novel ITGB6 mutation in autosomal recessive amelogenesis imperfecta

Seymen F., LEE K., Koruyucu M., Gencay K., Bayram M., Tuna E. B., ...Daha Fazla

ORAL DISEASES, cilt.21, sa.4, ss.456-461, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 21 Sayı: 4
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1111/odi.12303
  • Dergi Adı: ORAL DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.456-461
  • Anahtar Kelimeler: hereditary, genetic diseases, enamel, tooth, integrin, autozygosity mapping, INTEGRIN, DELETION, DISEASE, SLC24A4, PROTEIN
  • İstanbul Üniversitesi Adresli: Evet

Özet

ObjectiveHereditary defects in tooth enamel formation, amelogenesis imperfecta (AI), can be non-syndromic or syndromic phenotype. Integrins are signaling proteins that mediate cell-cell and cell-extracellular matrix communication, and their involvement in tooth development is well known. The purposes of this study were to identify genetic cause of an AI family and molecular pathogenesis underlying defective enamel formation.