Dental malformations associated with biallelic MMP20 mutations


Wang S., Zhang H., Chavez M. B. , Hu Y., Seymen F. , Koruyucu M. , ...Daha Fazla

MOLECULAR GENETICS & GENOMIC MEDICINE, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası:
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1002/mgg3.1307
  • Dergi Adı: MOLECULAR GENETICS & GENOMIC MEDICINE

Özet

Background Matrix metallopeptidase 20 (MMP20) is an evolutionarily conserved protease that is essential for processing enamel matrix proteins during dental enamel formation. MMP20 mutations cause human autosomal recessive pigmented hypomaturation-type amelogenesis imperfecta (AI2A2; OMIM #612529). MMP20 is expressed in both odontoblasts and ameloblasts, but its function during dentinogenesis is unclear.