Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia (Q34487902)

2 August 2017

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia (English)

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2 August 2017

Chassaing N

1

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2 August 2017

Bourthoumieu S

2

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2 August 2017

Cossee M

3

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2 August 2017

Calvas P

4

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2 August 2017

Vincent MC

5

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2 August 2017

1 March 2006

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2 August 2017

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2 August 2017

27

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2 August 2017

3

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2 August 2017

255-259

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TRAF6-deficient mice display hypohidrotic ectodermal dysplasia

2 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20295

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20295

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20295

7 January 2021

Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20295

7 January 2021

The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20295

7 January 2021

Ectodysplasin signaling in development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20295

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20295

7 January 2021

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20295

7 January 2021

Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20295

7 January 2021

Myodegeneration in EDA-A2 transgenic mice is prevented by XEDAR deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20295

7 January 2021

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20295

7 January 2021

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://api.crossref.org/works/10.1002%2FHUMU.20295

7 January 2021

A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20295

7 January 2021

Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20295

7 January 2021

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20295

7 January 2021

Complementation cloning of NEMO, a component of the IkappaB kinase complex essential for NF-kappaB activation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20295

7 January 2021

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20295

7 January 2021

Identifiers

DOI

10.1002/HUMU.20295

1 reference

2 August 2017

1 reference