(Q31133813)

English

Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations (English)

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

1 reference

based on heuristic

inferred from title

author name string

Sirpa Arte

1

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Satu Parmanen

2

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Sinikka Pirinen

3

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Satu Alaluusua

4

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Pekka Nieminen

5

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

language of work or name

0 references

publication date

22 August 2013

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

8

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

8

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

e73705

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

copyright license

Creative Commons Attribution 4.0 International

22 August 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Modeling recent human evolution in mice by expression of a selected EDAR variant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Tooth shape formation and tooth renewal: evolving with the same signals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Structural basis of Wnt recognition by Frizzled

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Mutations in WNT10A are present in more than half of isolated hypodontia cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

An arginine stretch limits ADAM10 exit from the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

A common variation in EDAR is a genetic determinant of shovel-shaped incisors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Reciprocal requirements for EDA/EDAR/NF-kappaB and Wnt/beta-catenin signaling pathways in hair follicle induction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

EDA gene mutations underlie non-syndromic oligodontia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Genetic basis of tooth agenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Dental agenesis: genetic and clinical perspectives

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Novel MSX1 frameshift causes autosomal-dominant oligodontia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

A missense mutation in PAX9 in a family with distinct phenotype of oligodontia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Identification of a nonsense mutation in the PAX9 gene in molar oligodontia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Gene defect in ectodermal dysplasia implicates a death domain adapter in development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

TNF signaling via the ligand-receptor pair ectodysplasin and edar controls the function of epithelial signaling centers and is regulated by Wnt and activin during tooth organogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Cusp patterning defect in Tabby mouse teeth and its partial rescue by FGF.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Mutation of PAX9 is associated with oligodontia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Analysis of epithelial-mesenchymal interactions in the initial morphogenesis of the mammalian tooth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

RGD and other recognition sequences for integrins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

21 June 2018

Agenesis of permanent teeth in 8138 Danish schoolchildren: prevalence and intra-oral distribution according to gender.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073705

21 January 2018

Expression of Wnt signalling pathway genes during tooth development.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073705

21 January 2018

Recessively inherited lower incisor hypodontia

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073705

21 January 2018

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073705

21 January 2018

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073705

21 January 2018

Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073705

21 January 2018

Involvement of a novel Tnf receptor homologue in hair follicle induction

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073705

21 January 2018

Anomalies of tooth formation in hypohidrotic ectodermal dysplasia.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073705

21 January 2018

Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073705

21 January 2018

Ectodysplasin A1 promotes placodal cell fate during early morphogenesis of ectodermal appendages.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073705

21 January 2018

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0073705

21 January 2018

Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3750013

25 November 2018

Hypodontia of permanent teeth. An orthopantomographic study

1 reference

https://pubmed.ncbi.nlm.nih.gov/23991204

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/23991204

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A

1 reference

https://pubmed.ncbi.nlm.nih.gov/23991204

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association between PAX-9 promoter polymorphisms and hypodontia in humans

1 reference

https://pubmed.ncbi.nlm.nih.gov/23991204

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23991204

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characteristics of Incisor-Premolar Hypodontia in Families

1 reference

https://pubmed.ncbi.nlm.nih.gov/23991204

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A meta-analysis of the prevalence of dental agenesis of permanent teeth

1 reference

https://pubmed.ncbi.nlm.nih.gov/23991204

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0073705

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

2013PLoSO...873705A

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

ResearchGate publication ID

0 references

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