...Y.L. Song; C.N. Wang; C.Z. Zhang; K. Yang; Z. Bian Background: Mutations in 6 genes have been identified as being part of the etiology of amelogenesis imperfecta (AI) with various phenotypes in an isolated condition. Among them the FAM83H gene is the major contributor to the etiology of AI...

..., and WDR72). Our aim was to determine the distribution of different gene mutations in a large AI population and evaluate phenotype-genotype relationships. Affected and unaffected family members were evaluated clinically and radiographically by one examiner. Genotyping was completed using genomic DNA obtained...

...J. Timothy Wright; Thomas C. Hart; P. Suzanne Hart; Darrin Simmons; Cynthia Suggs; Bill Daley; Jim Simmer; Jan Hu; John D. Bartlett; Yong Li; Zhi-An Yuan; W. Kim Seow; Carolyn W. Gibson Amelogenesis imperfecta (AI) is caused by AMEL, ENAM, MMP20 and KLK4 gene mutations. Mice lacking expression...

... represents an initial, first-step scission in the whole cascade of proteolytic processing. To test if Asp 197 is critical for initiating the proteolytic processing of mouse DMP1, we substituted Asp 197 with Ala 197 by mutating the corresponding nucleotides of mouse cDNA that encode this amino acid residue...