Premature stop codon in MMP20 causing amelogenesis imperfecta (Q37215971)

19 August 2017

Premature stop codon in MMP20 causing amelogenesis imperfecta (English)

1 reference

19 August 2017

P Papagerakis

1

1 reference

19 August 2017

H-K Lin

2

1 reference

19 August 2017

K Y Lee

3

1 reference

19 August 2017

Y Hu

4

1 reference

19 August 2017

J P Simmer

5

1 reference

19 August 2017

J D Bartlett

6

1 reference

19 August 2017

J C-C Hu

7

1 reference

19 August 2017

language of work or name

English

0 references

publication date

1 January 2008

1 reference

Journal of Dental Research

19 August 2017

1 reference

19 August 2017

87

1 reference

19 August 2017

1

1 reference

19 August 2017

56-59

1 reference

Developmental biology and genetics of dental malformations

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Phenotype of ENAM mutations is dosage-dependent

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Ameloblastin is a cell adhesion molecule required for maintaining the differentiation state of ameloblasts

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Decreased mineral content in MMP-20 null mouse enamel is prominent during the maturation stage

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Expression, structure, and function of enamel proteinases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

mRNA surveillance: the perfect persist

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Amelogenin-deficient mice display an amelogenesis imperfecta phenotype

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Mutation of PAX9 is associated with oligodontia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

The structural biology of the developing dental enamel matrix

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Dentin sialoprotein, dentin phosphoprotein, enamelysin and ameloblastin: tooth-specific molecules that are distinctively expressed during murine dental differentiation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Purification, characterization, and cloning of enamel matrix serine proteinase 1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Identification and structural and functional characterization of human enamelysin (MMP-20)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Molecular cloning and mRNA tissue distribution of a novel matrix metalloproteinase isolated from porcine enamel organ

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

High-resolution electron microscope study of human enamel crystallites: size, shape, and growth

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Processing of ameloblastin by MMP-20.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Identification and characterization of enamel proteinases isolated from developing enamel. Amelogeninolytic serine proteinases are associated with enamel maturation in pig

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

A novel missense mutation (p.P52R) in amelogenin gene causing X-linked amelogenesis imperfecta.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Porcine kallikrein-4 activation, glycosylation, activity, and expression in prokaryotic and eukaryotic hosts.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Enamelysin (matrix metalloproteinase 20)-deficient mice display an amelogenesis imperfecta phenotype.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Enamelysin and kallikrein-4 mRNA expression in developing mouse molars

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Localization of EMSP1 expression during tooth formation and cloning of mouse cDNA.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Enamelysin (matrix metalloproteinase-20): localization in the developing tooth and effects of pH and calcium on amelogenin hydrolysis.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

Cellular and chemical events during enamel maturation

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692082

[Purification and characterization of proteolytic enzymes in porcine immature enamel]

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18096894

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Characterization of recombinant pig enamelysin activity and cleavage of recombinant pig and mouse amelogenins

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18096894

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutational analysis of candidate genes in 24 amelogenesis imperfecta families

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18096894

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1177/154405910808700109

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

18096894

1 reference