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 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
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 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
Differential intolerance to loss of function and missense mutations in genes that encode human matricellular proteins.
Kaur S et al.
Journal of Cell Communication and Signaling, 2021
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
Hereditary dentine diseases resulting from mutations in DSPP gene.
Maciejewska I et al.
Journal of Dentistry, 2012
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
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
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
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta.
McKnight DA et al.
Journal of Dental Research, 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
Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II.
Holappa H et al.
European Journal of Oral Sciences, 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
Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II.
Malmgren B et al.
Human Genetics, 2004