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, ss.456-461, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 21 Konu: 4
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1111/odi.12303
  • Dergi Adı: ORAL DISEASES
  • Sayfa Sayıları: ss.456-461

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.