Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation

Active - site Mutation in Hypomaturation Amelogenesis Imperfecta

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta.

D uring mammalian tooth formation, two proteinases are secreted by ameloblasts: enamelysin (MMP-20) and kallikrein-4 (KLK4). Enamelysin is the early protease. It is expressed by ameloblasts throughout the secretory stage and part of the maturation stage. KLK4 is the late protease; its expression by ameloblasts begins in the transition stage and continues throughout enamel maturation. 5 Expressi...

Hypomaturation Amelogenesis Imperfecta due to WDR72 Mutations: A Novel Mutation and Ultrastructural Analyses of Deciduous Teeth

BACKGROUND Mutations in WDR72 have been identified in autosomal recessive hypomaturation amelogenesis imperfecta (AI). OBJECTIVE to describe a novel WDR72 mutation and report the ultrastructural enamel phenotype associated with a different WDR72 mutation. METHODS A family segregating autosomal recessive hypomaturation AI was recruited, genomic DNA obtained and WDR72 sequenced. Four deciduou...

LETTER TO JMG MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

D uring mammalian tooth formation, two proteinases are secreted by ameloblasts: enamelysin (MMP-20) and kallikrein-4 (KLK4). Enamelysin is the early protease. It is expressed by ameloblasts throughout the secretory stage and part of the maturation stage. KLK4 is the late protease; its expression by ameloblasts begins in the transition stage and continues throughout enamel maturation. 5 Expressi...

Novel ITGB6 mutation in autosomal recessive amelogenesis imperfecta

OBJECTIVE Hereditary 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 underl...