(Q35746047)

10 August 2017

title

MMP20 active-site mutation in hypomaturation amelogenesis imperfecta (English)

1 reference

hypomaturation amelogenesis imperfecta

10 August 2017

main subject

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author name string

D Ozdemir

1

1 reference

10 August 2017

P S Hart

2

1 reference

10 August 2017

O H Ryu

3

1 reference

10 August 2017

S J Choi

4

1 reference

10 August 2017

M Ozdemir-Karatas

5

1 reference

10 August 2017

E Firatli

6

1 reference

10 August 2017

N Piesco

7

1 reference

10 August 2017

T C Hart

8

1 reference

10 August 2017

language of work or name

English

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publication date

1 November 2005

1 reference

Journal of Dental Research

10 August 2017

published in

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10 August 2017

volume

84

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10 August 2017

issue

11

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10 August 2017

page(s)

1031-1035

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MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

10 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

ENAM Mutations in Autosomal-dominant Amelogenesis Imperfecta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

Relationship of phenotype and genotype in X-linked amelogenesis imperfecta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

Amelogenesis imperfecta: a classification and catalogue for the 21st century

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

Expression, structure, and function of enamel proteinases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

A nomenclature for X-linked amelogenesis imperfecta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

Enamelysin mRNA displays a developmentally defined pattern of expression and encodes a protein which degrades amelogenin.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

Proteinases in developing dental enamel

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

Matrix metalloproteinases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1850238

Relationship of Phenotype and Genotype in X-Linked Amelogenesis Imperfecta

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1177%2F154405910508401112

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16246936

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1177/154405910508401112

1 reference

10 August 2017

1 reference

10 August 2017

1 reference