Associated Papers
Beyond the diagnosis: Unraveling DSPP genotype-phenotype correlations in dentin dysplasia and dentinogenesis imperfecta.
Boonyakanog A et al.
The Japanese Dental Science Review, 2026
A Novel DSPP Mutation in Dentinogenesis Imperfecta Shields Type II: Clinical, Genetic and Stem Cell Perspectives.
Gao Q et al.
International Dental Journal, 2025
The genetics of non-syndromic dentinogenesis imperfecta: a systematic review.
Gilani M et al.
European Archives of Paediatric Dentistry : Official Journal of the European Academy of Paediatric Dentistry, 2025
Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.
Hassib NF et al.
Clinical Oral Investigations, 2024
The Role of DSPP in Dentine Formation and Hereditary Dentine Defects.
Jia J et al.
The Chinese Journal of Dental Research, 2024
Identification of DSPP novel variants and phenotype analysis in dentinogenesis dysplasia Shields type II patients.
Du Q et al.
Clinical Oral Investigations, 2023
Novel dentin sialophosphoprotein gene frameshift mutations affect dentin mineralization.
Zhang Z et al.
Archives of Oral Biology, 2023
The Modified Shields Classification and 12 Families with Defined DSPP Mutations.
Simmer JP et al.
Genes, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families.
Taleb K et al.
Molecular Genetics & Genomic Medicine, 2018
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Bloch-Zupan A et al.
Frontiers in Physiology, 2016
Efficient trafficking of acidic proteins out of the endoplasmic reticulum involves a conserved amino terminal IleProVal (IPV)-like tripeptide motif.
Nam AS et al.
Connective Tissue Research, 2014
Rough endoplasmic reticulum trafficking errors by different classes of mutant dentin sialophosphoprotein (DSPP) cause dominant negative effects in both dentinogenesis imperfecta and dentin dysplasia by entrapping normal DSPP.
von Marschall Z et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2012
Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis.
Li D et al.
Genomics, 2012
Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families.
Wang SK et al.
European Journal of Oral Sciences, 2011
Functional splicing assay of DSPP mutations in hereditary dentin defects.
Lee KE et al.
Oral Diseases, 2011
Genetic studies of craniofacial anomalies: clinical implications and applications.
Hart TC et al.
Orthodontics & Craniofacial Research, 2009
A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II.
Wang H et al.
Mutation Research, 2009
A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene.
McKnight DA et al.
Human Mutation, 2008
A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia.
Lee SK et al.
Journal of Endodontics, 2008
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
Barron MJ et al.
Orphanet Journal of Rare Diseases, 2008
A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.
Zhang X et al.
Bmc Medical Genetics, 2007
Analysis of phenotype-genotype connection: the story of dissecting disease pathogenesis in genomic era in China, and beyond.
Shen Y et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2007
Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II.
Holappa H et al.
European Journal of Oral Sciences, 2006
Phenotypes and genotypes in 2 DGI families with different DSPP mutations.
Song Y et al.
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics, 2006
Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21.
Beattie ML et al.
Journal of Dental Research, 2006
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.
Kim JW et al.
Human Genetics, 2005
A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.
Kim JW et al.
Human Genetics, 2004
Human genome research in China.
Qiang B
Journal of Molecular Medicine (berlin, Germany), 2004
Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization.
Rajpar MH et al.
Human Molecular Genetics, 2002
[Results of estimation of mutation rates for translocation trisomy 21].
Kovaleva NV et al.
Tsitologiia, 2002
DSPP mutation in dentinogenesis imperfecta Shields type II.
Zhang X et al.
Nature Genetics, 2001