(Q36623188)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

John D Bartlett

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

author name string

Y Hu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

J P Simmer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

F Seymen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

N M R P Estrella

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

S Pal

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

B M Reid

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

M Yildirim

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

M Bayram

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

J C-C Hu

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

language of work or name

English

0 references

publication date

25 January 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

Journal of Dental Research

22 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

volume

92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

page(s)

266-271

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23355523%20AND%20SRC:MED&resulttype=core&format=json

FAM20A mutations can cause enamel-renal syndrome (ERS).

22 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis 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=3576998

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

Target gene analyses of 39 amelogenesis imperfecta kindreds

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

Expression of kallikrein-related peptidase 4 in dental and non-dental tissues

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

Enamel proteins and proteases in Mmp20 and Klk4 null and double-null mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

Amelogenesis imperfecta: genotype-phenotype studies in 71 families

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

Effect of kallikrein 4 loss on enamel mineralization: comparison with mice lacking matrix metalloproteinase 20

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

Cleavage site specificity of MMP-20 for secretory-stage ameloblastin.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis 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=3576998

Fam83h is associated with intracellular vesicles and ADHCAI

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

Hypomaturation enamel defects in Klk4 knockout/LacZ knockin mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

Phenotypic variation in FAM83H-associated amelogenesis 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=3576998

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis 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=3576998

Functions of KLK4 and MMP-20 in dental enamel formation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis 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=3576998

Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 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=3576998

Crystal structures of MMPs in complex with physiological and pharmacological inhibitors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis 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=3576998

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis 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=3576998

Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis 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=3576998

Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

Clinical and microstructural aberrations of enamel of deciduous and permanent teeth in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

Autosomal dominant junctional epidermolysis bullosa.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

Enamelysin and kallikrein-4 mRNA expression in developing mouse molars

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3576998

Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay

20 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23355523

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23355523

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1177/0022034513475626

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5c4gi3usxrf7lpdtsmz564xbqa

30 July 2022

release_5c4gi3usxrf7lpdtsmz564xbqa

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5c4gi3usxrf7lpdtsmz564xbqa

30 July 2022

https://api.fatcat.wiki/v0/release/5c4gi3usxrf7lpdtsmz564xbqa

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/5c4gi3usxrf7lpdtsmz564xbqa

PubMed publication ID

1 reference

30 July 2022