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, cilt.8, sa.8, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 8
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1002/mgg3.1307
  • Dergi Adı: MOLECULAR GENETICS & GENOMIC MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Agricultural & Environmental Science Database, EMBASE, MEDLINE, Directory of Open Access Journals
  • Anahtar Kelimeler: amelogenesis imperfecta, dentin defects, enamel hardness, hypomineralization, MMP20 mutations
  • İstanbul Üniversitesi Adresli: Evet

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.