(Q24643530)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

title

Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

0 references

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Wan Kim Seow

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

author name string

J Timothy Wright

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Thomas C Hart

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

P Suzanne Hart

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Darrin Simmons

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Cynthia Suggs

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Bill Daley

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Jim Simmer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Jan Hu

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Yong Li

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Zhi-An Yuan

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Carolyn W Gibson

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

language of work or name

English

0 references

publication date

19 August 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

volume

189

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

page(s)

224-229

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

issue

1-4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

The molecular etiologies and associated phenotypes of amelogenesis imperfecta

12 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

Amelogenin-deficient mice display an amelogenesis imperfecta phenotype

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

Enamel defects and ameloblast-specific expression in Enam knock-out/lacz knock-in mice

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

Expression, structure, and function of enamel proteinases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

Phenotype of ENAM mutations is dosage-dependent

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

MMP20 active-site mutation in hypomaturation amelogenesis imperfecta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

Enamelin and autosomal-dominant amelogenesis imperfecta.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

Relationship of phenotype and genotype in X-linked amelogenesis imperfecta

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

A Mutation in the Enamelin Gene in a Mouse Model

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754863

Mutational analysis of candidate genes in 24 amelogenesis imperfecta families

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18714142

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A nomenclature for X-linked amelogenesis imperfecta

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18714142

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Transgenic mice that express normal and mutated amelogenins

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18714142

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1159/000151378

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18714142%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

2 references