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
The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021.
Roht L et al.
Frontiers in Genetics, 2022
Phenotype and molecular characterizations of a family with dentinogenesis imperfecta shields type II with a novel DSPP mutation.
Du Q et al.
Annals of Translational Medicine, 2021
Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China.
Qi M et al.
Birth Defects Research, 2021
Genetic testing involving 100 common mutations for antenatal diagnosis of hereditary hearing loss in Chongqing, China.
Hu H et al.
Medicine, 2021
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
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Familial nonsyndromic hearing loss with incomplete partition type II caused by novel DSPP gene mutations.
Li WX et al.
Acta Oto-laryngologica, 2018
Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia.
Li F et al.
Oral Diseases, 2017
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
He X et al.
International Journal of Pediatric Otorhinolaryngology, 2017
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Prasad MK et al.
Journal of Medical Genetics, 2016
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Bloch-Zupan A et al.
Frontiers in Physiology, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 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
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
A novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II.
Zhang J et al.
Plos One, 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 novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II.
Lee SK et al.
Journal of Dental 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
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
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP.
Xiao S et al.
Nature Genetics, 2001