PAX9, a paired domain transcription factor, has important functions in craniofacial and limb development. Heterozygous mutations of PAX9, including deletion, nonsense, or frameshift mutations that lead to a premature stop codon, and missense mutations, were previously shown to be associated with autosomal dominant oligodontia. Here, we report a novel missense mutation that lies in the highly conserved paired domain of PAX9 and that is associated with non-syndromic oligodontia in one family. The mutation, 83G-->C, is predicted to result in the substitution of arginine by proline (R28P) in the N-terminal subdomain of PAX9 paired domain. To rule out the possibility that this substitution is a rare polymorphism and to test whether the predicted amino acid substitution disrupts protein-DNA binding, we analyzed the binding of wild-type and mutant PAX9 paired domain to double-stranded DNA targets. The R28P mutation dramatically reduces DNA binding of the PAX9 paired domain and supports the hypothesis that loss of DNA binding is the pathogenic mechanism by which the mutation causes oligodontia.
The purpose of this study was twofold: 1) to examine website content provided by U.S. and Canadian pediatric dentistry residency programs, and 2) to understand aspects of program websites that dental students report to be related to their interests. Sixty-eight program websites were reviewed by five interprofessional evaluators. A thirty-six-item evaluation form was organized into 1) program descriptive items listed on the American Academy of Pediatric Dentistry (AAPD) website (n=21); 2) additional program descriptive items not listed on the AAPD website but of interest (n=9); and 3) items related to website interface design (n=5). We also surveyed fifty-four dental students regarding their interest in various aspects of program descriptions. The results of this study suggest that pediatric dentistry residency programs in general tend to provide identical or less information than what is listed on the AAPD website. The majority of respondents (76 percent) reported that residency program websites would be their first source of information about advanced programs. The greatest gap between the available website information and students' interests exists in these areas: stipend and tuition information, state licensure, and program strengths. Pediatric dentistry residency programs underutilize websites as a marketing and recruitment tool and should incorporate more information in areas of students' priority interests.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.