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
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
The Role of DSPP in Dentine Formation and Hereditary Dentine Defects.
Jia J et al.
The Chinese Journal of Dental Research, 2024
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
Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation.
Porntaveetus T et al.
Clinical Oral Investigations, 2019
Familial nonsyndromic hearing loss with incomplete partition type II caused by novel DSPP gene mutations.
Li WX et al.
Acta Oto-laryngologica, 2018
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
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
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
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
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
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP.
Xiao S et al.
Nature Genetics, 2001