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
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
A Novel Variant in Dentin Sialophosphoprotein (DSPP) Gene Causes Dentinogenesis Imperfecta Type III: Case Report.
Wang Y et al.
Molecular Genetics & Genomic Medicine, 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
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
Translated Mutant DSPP mRNA Expression Level Impacts the Severity of Dentin Defects.
Kim YJ et al.
Journal of Personalized Medicine, 2022
The Modified Shields Classification and 12 Families with Defined DSPP Mutations.
Simmer JP et al.
Genes, 2022
Mouse Dspp frameshift model of human dentinogenesis imperfecta.
Liang T et al.
Scientific Reports, 2021
Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation.
Porntaveetus T et al.
Clinical Oral Investigations, 2019
Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families.
Taleb K et al.
Molecular Genetics & Genomic Medicine, 2018
The dentin phosphoprotein repeat region and inherited defects of dentin.
Yang J et al.
Molecular Genetics & Genomic Medicine, 2016
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Bloch-Zupan A et al.
Frontiers in Physiology, 2016
A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect.
Lee SK et al.
Biomed Research International, 2013
Hereditary dentine diseases resulting from mutations in DSPP gene.
Maciejewska I et al.
Journal of Dentistry, 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
Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation.
Lee SK et al.
Oral Diseases, 2011
De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family.
Kida M et al.
European Journal of Oral Sciences, 2009
[Mutation analysis of a Chinese family with genetic dentinogenesis imperfecta].
Qu EJ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2009
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
Porcine dentin sialophosphoprotein: length polymorphisms, glycosylation, phosphorylation, and stability.
Yamakoshi Y et al.
The Journal of Biological Chemistry, 2008
A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.
Zhang X et al.
Bmc Medical Genetics, 2007