Varaico: Literature-Extracted Genetic Variants

Gene:DSPP
Variant:p.P17L
Back to variants list

DSPP

NM_014208.3:p.P17L

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

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

Dentin defects caused by a Dspp-1 frameshift mutation are associated with the activation of autophagy.

Liang T et al.

Scientific Reports, 2023

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

Enamel Defects Associated With Dentin Sialophosphoprotein Mutation in Mice.

Liang T et al.

Frontiers in Physiology, 2021

Mutant Dentin Sialophosphoprotein Causes Dentinogenesis Imperfecta.

Liang T et al.

Journal of Dental Research, 2019

Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation.

Porntaveetus T et al.

Clinical Oral Investigations, 2019

[Analysis of DSPP gene mutation in a Chinese pedigree affected with hereditary dentinogenesis imperfecta].

Hu A et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."