(Q55671193)

1

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L Baala

2

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C Cluzeau

3

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F El Kerch

4

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K Ouldim

5

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C Bodemer

7

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A Munnich

8

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G Courtois

9

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A Sefiani

10

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A Smahi

TRAF6-deficient mice display hypohidrotic ectodermal dysplasia

11

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language of work or name

English

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publication date

July 2007

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published in

Human Mutation

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volume

28

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issue

7

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page(s)

703-9

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

The Mouse Genome Database (MGD): updates and enhancements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

The cloning and characterization of human MyD88: a member of an IL-1 receptor related family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

Edar signaling in the control of hair follicle development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

The Ectodysplasin and NFkappaB signalling pathways in odontogenesis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

So-called "anhidrotic ectodermal dysplasia"

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

Signaling to NF-kappaB

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

Involvement of a novel Tnf receptor homologue in hair follicle induction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

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.20500

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.20500

7 January 2021

The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

Phosphorylation meets ubiquitination: the control of NF-[kappa]B activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

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.20500

7 January 2021

Towards a new classification of ectodermal dysplasias.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

Ectodysplasin signaling in development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

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.20500

7 January 2021

TAB2, TRAF6 and TAK1 are involved in NF-κB activation induced by the TNF-receptor, Edar and its adaptator Edaradd

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

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.20500

7 January 2021

Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

Mechanisms of ectodermal organogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

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.20500

7 January 2021

The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

The death effector domain protein family: regulators of cellular homeostasis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

The death domain superfamily: a tale of two interfaces?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

7 January 2021

Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20500

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.20500

7 January 2021