ADSPPMutation Causing Dentinogenesis Imperfecta and Characterization of the Mutational Effect
نویسندگان
چکیده
منابع مشابه
A DSPP Mutation Causing Dentinogenesis Imperfecta and Characterization of the Mutational Effect
Mutations in the DSPP gene have been identified in nonsyndromic hereditary dentin defects, but the genotype-phenotype correlations are not fully understood. Recently, it has been demonstrated that the mutations of DSPP affecting the IPV leader sequence result in mutant DSPP retention in rough endoplasmic reticulum (ER). In this study, we identified a Korean family with dentinogenesis imperfecta...
متن کاملPhenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families.
The aim of this study was to perform phenotype analysis and dentin sialophosphoprotein (DSPP) mutational analysis on 3 Brazilian families diagnosed with dentinogenesis imperfecta type II (DGI-II) attending the Dental Anomalies Clinic in Brasilia, Brazil. Physical and oral examinations, as well as radiographic and histopathological analyses, were performed on 28 affected and unaffected individua...
متن کاملDentinogenesis imperfecta associated with osteogenesis imperfecta: report of two cases.
Osteogenesis imperfecta (OI) is a heritable systemic disorder of the connective tissue. Dentinogenesis imperfecta (DI), which is sometimes an accompanying symptom of OI, belongs to a group of genetically conditioned dentin dysplasias and is characterized clinically by an opalescent amber appearance of the dentin. Although the teeth of DI cases wear more easily and excessively compared to normal...
متن کاملthe effect of explicit teaching of metacognitive vocabulary learning strategies on recall and retention of idioms
چکیده ندارد.
15 صفحه اولOsteogenesis imperfecta/lobstein syndrome associated with dentinogenesis imperfecta.
Osteogenesis imperfecta is a collagen related disorder characterized by increased bone fragility and low bone mass. The important oral finding in osteogenesis imperfect is the presence of dentinogenesis imperfecta. This article presents a case of osteogenesis imperfecta (type IV B) with dentinogenesis imperfecta where a 7-year-old girl had opalacent primary teeth associated with severe bone def...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BioMed Research International
سال: 2013
ISSN: 2314-6133,2314-6141
DOI: 10.1155/2013/948181