Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Splicing mutation in DSPP causes dentinogenesis imperfecta and amelogenesis imperfecta.

BMC oral health - 26 Feb 2026

Zhang Zhenwei, Chen Zexi, Huang Juan, Chen Feng, Dong Yanmei, Gao Xuejun, Zhao Hu, Tian Hua

Abstract excerpt

BACKGROUND: Dentin sialophosphoprotein (DSPP) is an extracellular matrix protein, which is highly expressed in odontoblasts and transiently expressed in presecretory ameloblasts. DSPP mutations were related to dentinogenesis imperfecta (DGI), some of which can be accompanied by amelogenesis imperfecta (AI). However, the mechanism underlying DGI and AI caused by DSPP mutations is still unclarified. This study...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amelogenesis Imperfecta
Share to Dentinogenesis Imperfecta

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Mice, Knockout

Share to Pedigree

Share to Phosphoproteins

Share to RNA Splicing

Share to Sialoglycoproteins

Source

Open in PubMed Open full text

Identifiers

PMID: 41749146
DOI: 10.1186/s12903-026-07872-z
PMCID: PMC13041209

Genes

DSPP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Splicing mutation in DSPP causes dentinogenesis imperfecta and amelogenesis imperfecta.PMID 41749146Read ↗

A novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II.Semantic proximity Read ↗

Functional splicing assay of DSPP mutations in hereditary dentin defects.Semantic proximity Read ↗

A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II.Semantic proximity Read ↗

Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II.Semantic proximity Read ↗

A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.Semantic proximity Read ↗

Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia.Semantic proximity Read ↗

A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect.Semantic proximity Read ↗

Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation.Semantic proximity Read ↗

A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia.Semantic proximity Read ↗

A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.Semantic proximity Read ↗

Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families.Semantic proximity Read ↗

A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.