Dentinogenesis imperfecta without osteogenesis imperfecta
|
0.770 |
Biomarker
|
disease |
BEFREE |
Mutations of the DSPP gene, which encodes the dentin sialophosphoprotein, a major non-collagenous protein, are responsible for three isolated dentinal diseases: DGI-II, DGI-III, and DD-II.
|
29575674 |
2019 |
Dentin dyspalsia, Shields type 2
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia.
|
27973701 |
2017 |
Dentinogenesis imperfecta without osteogenesis imperfecta
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hereditary dentin defects can be categorised into two classes according to their clinical manifestations: dentinogenesis imperfecta (DGI), which includes three types (DGI-I, DGI-II and DGI-III), and dentin dysplasia (DD), which includes two types (DD-I and DD-II).
|
27973701 |
2017 |
Dentin dyspalsia, Shields type 2
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
The dentin phosphoprotein repeat region and inherited defects of dentin.
|
26788535 |
2016 |
Dentin dyspalsia, Shields type 2
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Human mutations of this DSPP gene are responsible for three isolated dentinal diseases classified by Shield in 1973: type II and III dentinogenesis imperfecta and type II dentin dysplasia.
|
25118030 |
2015 |
Dentinogenesis imperfecta without osteogenesis imperfecta
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
This study presents evidence of a shared underlying mechanism of capturing of normal DSPP by two different classes of DSPP mutations and offers an explanation for the mild (DD-II) versus severe (DGI-II and III) nonsyndromic dentin phenotypes.
|
22392858 |
2012 |
Dentinogenesis imperfecta without osteogenesis imperfecta
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
This study presents evidence of a shared underlying mechanism of capturing of normal DSPP by two different classes of DSPP mutations and offers an explanation for the mild (DD-II) versus severe (DGI-II and III) nonsyndromic dentin phenotypes.
|
22392858 |
2012 |
Dentinogenesis imperfecta without osteogenesis imperfecta
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis.
|
22310900 |
2012 |
Dentin dyspalsia, Shields type 2
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
In eight families (five mutations in the N-terminal third of DPP), the clinical and radiologic features were uniform and compatible with dentin dysplasia type II (DD-II) with major clinical signs in the deciduous dentition.
|
20949630 |
2011 |
Dentin dyspalsia, Shields type 2
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Dentin sialophosphoprotein (DSPP) mutations cause dentin dysplasia type II (DD-II) and dentinogenesis imperfecta types II and III (DGI-II and DGI-III, respectively).
|
22243242 |
2011 |
Dentinogenesis imperfecta without osteogenesis imperfecta
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Dentin sialophosphoprotein (DSPP) mutations cause dentin dysplasia type II (DD-II) and dentinogenesis imperfecta types II and III (DGI-II and DGI-III, respectively).
|
22243242 |
2011 |
Dentinogenesis imperfecta without osteogenesis imperfecta
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation.
|
21029264 |
2011 |
Dentin dyspalsia, Shields type 2
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene.
|
18521831 |
2008 |
Dentin dyspalsia, Shields type 2
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
We have identified a DSPP splice junction mutation (IVS2-6T>G) in a family with dentin dysplasia type II.
|
19026876 |
2008 |
Dentinogenesis imperfecta without osteogenesis imperfecta
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Disorders of human dentin.
|
17627120 |
2007 |
Dentin dyspalsia, Shields type 2
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
To date, several mutations have been described in the dentin sialophosphoprotein (DSPP) gene, causing DGI types II and III and dentin dysplasia type II.
|
17026502 |
2006 |
Dentin dyspalsia, Shields type 2
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Our study indicates that DGI-III is allelic with some forms of DGI-II with and without progressive hearing loss and dentin dysplasia type II that have been shown to be caused by mutations within the DSP coding or signal peptide regions.
|
15690376 |
2005 |
Dentinogenesis imperfecta without osteogenesis imperfecta
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II.
|
14758537 |
2004 |
Dentin dyspalsia, Shields type 2
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization.
|
12354781 |
2002 |
Dentinogenesis imperfecta without osteogenesis imperfecta
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Dentinogenesis imperfecta 1 (DGI1, MIM 125490) is an autosomal dominant dental disease characterized by abnormal dentin production and mineralization.
|
11175790 |
2001 |
Dentinogenesis imperfecta without osteogenesis imperfecta
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
DSPP mutation in dentinogenesis imperfecta Shields type II.
|
11175779 |
2001 |
Dentinogenesis imperfecta without osteogenesis imperfecta
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
DSPP mutation in dentinogenesis imperfecta Shields type II.
|
11175779 |
2001 |
Dentinogenesis imperfecta without osteogenesis imperfecta
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
DSPP mutation in dentinogenesis imperfecta Shields type II.
|
11175779 |
2001 |
Dentin dyspalsia, Shields type 2
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci.
|
9541230 |
1998 |
Dentinogenesis imperfecta without osteogenesis imperfecta
|
0.770 |
Biomarker
|
disease |
BEFREE |
DSPP is thereby strengthened as a candidate gene for both DGI-II and DD-II.
|
9541230 |
1998 |