Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta (Q34211774)

31 July 2017

title

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta (English)

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31 July 2017

Chris F Inglehearn

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James A Poulter

James A Poulter

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Alan J. Mighell

Alan J Mighell

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Jennifer Kirkham

Jennifer Kirkham

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Steven J. Brookes

Steven J Brookes

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David A Parry

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Gina Murillo

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31 July 2017

Claire E L Smith

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31 July 2017

Sandra Silva

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31 July 2017

publication date

23 May 2014

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full work available at URL

31 July 2017

http://eprints.whiterose.ac.uk/80727/

content deliverer

White Rose Research Online

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published in

Human Molecular Genetics

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31 July 2017

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31 July 2017

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31 July 2017

page(s)

5317-5324

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describes a project that uses

31 July 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4168819/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Ameloblastin inhibits cranial suture closure by modulating MSX2 expression and proliferation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Fast gapped-read alignment with Bowtie 2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Target gene analyses of 39 amelogenesis imperfecta kindreds

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

A framework for variation discovery and genotyping using next-generation DNA sequencing data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Identification of a fibronectin interaction site in the extracellular matrix protein ameloblastin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Consequences for enamel development and mineralization resulting from loss of function of ameloblastin or enamelin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Critical role of heparin binding domains of ameloblastin for dental epithelium cell adhesion and ameloblastoma proliferation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

The Sequence Alignment/Map format and SAMtools

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

A mouse model expressing a truncated form of ameloblastin exhibits dental and junctional epithelium defects

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Essential roles of ameloblastin in maintaining ameloblast differentiation and enamel formation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Amelin extracellular processing and aggregation during rat incisor amelogenesis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Functional antagonism between Msx2 and CCAAT/enhancer-binding protein alpha in regulating the mouse amelogenin gene expression is mediated by protein-protein interaction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Ameloblastin expression in rat incisors and human tooth germs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Bovine enamel organ cells express tissue non-specific alkaline phosphatase mRNA.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Molecular mechanisms of dental enamel formation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Amelogenesis imperfecta: prevalence and incidence in a northern Swedish county

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

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.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Quantitative analysis of cell turnover in the enamel organ of the rat incisor. Evidence for ameloblast death immediately after enamel matrix secretion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168819

Cellular and chemical events during enamel maturation

5 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU247

The psychosocial impact of developmental dental defects in people with hereditary amelogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU247

A transgenic animal model resembling amelogenesis imperfecta related to ameloblastin overexpression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU247

Candidate-gene exclusion in a family with inherited non-syndromic dental disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU247

Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU247

Enzyme compartmentalization during biphasic enamel matrix processing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU247

X-ray microtomographic study of mineral concentration distribution in deciduous enamel

21 January 2018

1 reference

12 December 2020

Synthesis, secretion, degradation, and fate of ameloblastin during the matrix formation stage of the rat incisor as shown by immunocytochemistry and immunochemistry using region-specific antibodies

1 reference

12 December 2020

Mutational analysis of candidate genes in 24 amelogenesis imperfecta families

1 reference

12 December 2020

Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients

1 reference

12 December 2020

Porcine sheath proteins show periodontal ligament regeneration activity

1 reference

12 December 2020

[Exclusion of candidate genes in a family with amelogenesis imperfecta]

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDU247

1 reference

Dimensions Publication ID

31 July 2017

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31 July 2017

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