(Q34517566)

2 August 2017

title

Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6. (English)

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2 August 2017

main subject

amelogenesis imperfecta

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Jan C-C Hu

1

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2 August 2017

Hui-Chen Chan

2

1 reference

2 August 2017

Stephen G Simmer

3

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2 August 2017

Figen Seymen

4

1 reference

2 August 2017

Amelia S Richardson

5

1 reference

2 August 2017

Yuanyuan Hu

6

1 reference

2 August 2017

Rachel N Milkovich

7

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2 August 2017

Ninna M R P Estrella

8

1 reference

2 August 2017

Mine Yildirim

9

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2 August 2017

Merve Bayram

10

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2 August 2017

Chiung-Fen Chen

11

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2 August 2017

James P Simmer

12

1 reference

2 August 2017

language of work or name

English

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publication date

14 December 2012

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2 August 2017

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2 August 2017

volume

7

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2 August 2017

issue

12

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2 August 2017

page(s)

e52052

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Creative Commons Attribution 4.0 International

2 August 2017

copyright license

start time

14 December 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

A post-classical theory of enamel biomineralization… and why we need one

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Target gene analyses of 39 amelogenesis imperfecta kindreds

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Amelogenesis imperfecta: genotype-phenotype studies in 71 families

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Dental enamel structure is altered by expression of dominant negative RhoA in ameloblasts

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Why does enamel in Klk4-null mice break above the dentino-enamel junction?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Pseudogenization of the tooth gene enamelysin (MMP20) in the common ancestor of extant baleen whales

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Hypomaturation enamel defects in Klk4 knockout/LacZ knockin mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Hen's teeth with enamel cap: from dream to impossibility

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

SCPP gene evolution and the dental mineralization continuum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Regulation of phospholipase C-delta1 by ARGHAP6, a GTPase-activating protein for RhoA: possible role for enhanced activity of phospholipase C in hypertension

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

The molecular etiologies and associated phenotypes of amelogenesis imperfecta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Relationship of phenotype and genotype in X-linked amelogenesis imperfecta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Mineralized tissue and vertebrate evolution: the secretory calcium-binding phosphoprotein gene cluster

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Amelogenin-deficient mice display an amelogenesis imperfecta phenotype

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

The structural biology of the developing dental enamel matrix

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Sex determination by PCR analysis of the X-Y amelogenin gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Demonstration of the lyon hypothesis in X-linked dominant hypoplastic amelogenesis imperfecta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Amelogenesis imperfecta--clinical manifestations in 51 families in a northern Swedish county

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Amelogenesis imperfecta: a genetic study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Identification of the leucine-rich amelogenin peptide (LRAP) as the translation product of an alternatively spliced transcript.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Immunochemical and immunohistochemical studies, using antisera against porcine 25 kDa amelogenin, 89 kDa enamelin and the 13-17 kDa nonamelogenins, on immature enamel of the pig and rat.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522662

Reliability of DNA-based sex tests.

7 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0052052

An investigation of sequence deletions of amelogenin (AMELY), a Y-chromosome locus commonly used for gender determination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0052052

Evolutionary history of sex-linked mammalian amelogenin genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0052052

Tooth enamel defects in mice with a deletion at the Arhgap 6/Amel X locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0052052

Alternative splicing of the mouse amelogenin primary RNA transcript

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0052052

Cellular and chemical events during enamel maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0052052

Relationship of Phenotype and Genotype in X-Linked Amelogenesis Imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0052052

Imaging RNA polymerase-amelogenin gene complexes with single molecule resolution using atomic force microscopy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0052052

Microstructure and mineral composition of dental enamel of permanent and deciduous teeth

21 January 2018

1 reference

12 December 2020

Null alleles of the X and Y chromosomal amelogenin gene in a Chinese population

1 reference

12 December 2020

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

1 reference

12 December 2020

A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome

1 reference

12 December 2020

Higher failures of amelogenin sex test in an Indian population group

1 reference

12 December 2020

Molecular basis and consequences of a deletion in the amelogenin gene, analyzed by capture PCR

1 reference

12 December 2020

A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI)

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0052052

Identifiers

DOI

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2 August 2017

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2 August 2017

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