(Q37391232)

20 August 2017

A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia (English)

1 reference

20 August 2017

1 reference

Sook-Kyung Lee

1

1 reference

20 August 2017

Jan C-C Hu

2

1 reference

20 August 2017

Kyung-Eun Lee

3

1 reference

20 August 2017

James P Simmer

4

1 reference

20 August 2017

Jung-Wook Kim

5

1 reference

20 August 2017

language of work or name

English

0 references

publication date

26 September 2008

1 reference

20 August 2017

Journal of Endodontics

1 reference

20 August 2017

34

1 reference

20 August 2017

12

1 reference

20 August 2017

1470-1473

1 reference

The role of dentists in diagnosing osteogenesis imperfecta in patients with dentinogenesis imperfecta

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

Endoplasmic reticulum stress in the kidney

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

Messenger RNA regulation: to translate or to degrade

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

Large-scale comparative analysis of splicing signals and their corresponding splicing factors in eukaryotes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

The molecular control of and clinical variations in root formation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

Disorders of human dentin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

Hereditary dentin defects

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

Phosphophoryn regulates the gene expression and differentiation of NIH3T3, MC3T3-E1, and human mesenchymal stem cells via the integrin/MAPK signaling pathway

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

DSPP mutation in dentinogenesis imperfecta Shields type II

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

Functional analysis of the polypyrimidine tract in pre-mRNA splicing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

A proposed classification for heritable human dentine defects with a description of a new entity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

Evaluation of oral problems in an osteogenesis imperfecta population.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

Phenotypes and genotypes in 2 DGI families with different DSPP mutations.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2763612

Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19026876

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Extracellular matrix-mediated signaling by dentin phosphophoryn involves activation of the Smad pathway independent of bone morphogenetic protein

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19026876

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JOEN.2008.08.027

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

19026876

1 reference