(Q36665293)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23509818%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

title

A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23509818%20AND%20SRC:MED&resulttype=core&format=json

dentinogenesis imperfecta

26 February 2020

main subject

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23509818%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

author name string

Sook-Kyung Lee

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23509818%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Kyung-Eun Lee

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23509818%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Su Jeong Song

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23509818%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Sang-Hoon Lee

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23509818%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Jung-Wook Kim

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23509818%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

language of work or name

English

0 references

publication date

27 December 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23509818%20AND%20SRC:MED&resulttype=core&format=json

BioMed Research International

26 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23509818%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

volume

2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23509818%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

page(s)

948181

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23509818%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 3.0 Unported

26 February 2020

copyright license

start time

1 January 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3591212/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

A novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

Dentin sialophosphoprotein (DSPP) is cleaved into its two natural dentin matrix products by three isoforms of bone morphogenetic protein-1 (BMP1).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

A novel endoplasmic reticulum export signal: proline at the +2-position from the signal peptide cleavage site

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

Disorders of human dentin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

Hereditary dentin defects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

DSPP mutation in dentinogenesis imperfecta Shields type II

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

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.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

Dentin sialophosphoprotein is processed by MMP-2 and MMP-20 in vitro and in vivo.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

Deletion of dentin matrix protein-1 leads to a partial failure of maturation of predentin into dentin, hypomineralization, and expanded cavities of pulp and root canal during postnatal tooth development

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591212

Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location

20 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1155%2F2013%2F948181

Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23509818

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23509818

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1155/2013/948181

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23509818%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23509818%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23509818%20AND%20SRC:MED&resulttype=core&format=json