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 site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II.

European journal of oral sciences - 1 Oct 2006

Holappa Heidi, Nieminen Pekka, Tolva Liisa, Lukinmaa Pirjo-Liisa, Alaluusua Satu

Abstract excerpt

Dentinogenesis imperfecta (DGI) type II (OMIM # 125490) is an inherited disorder affecting dentin. Defective dentin formation results in discolored teeth that are prone to attrition and fracture. To date, several mutations have been described in the dentin sialophosphoprotein (DSPP) gene, causing DGI types II and III and dentin dysplasia type II. DSPP encodes two proteins: dentin sialoprotein (DSP) and dentin...

Read the complete abstract on PubMed

Topics

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

Share to Dentin
Share to Dentinogenesis Imperfecta

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Finland

Share to Genetic Linkage

Share to Phosphoproteins

Share to Sialoglycoproteins

Share to Surveys and Questionnaires

Source

Identifiers

PMID: 17026502
DOI: 10.1111/j.1600-0722.2006.00391.x

Genes

DSPP
DSP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II.PMID 17026502Read ↗

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

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

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

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

Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III.Semantic proximity Read ↗

Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants.Semantic proximity Read ↗

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

Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP.Semantic proximity Read ↗

Splicing mutation in DSPP causes dentinogenesis imperfecta and amelogenesis imperfecta.Semantic proximity Read ↗

Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families.Semantic proximity Read ↗

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

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