Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus (Q55671193)

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L Baala

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C Cluzeau

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F El Kerch

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K Ouldim

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C Bodemer

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A Munnich

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G Courtois

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A Sefiani

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A Smahi

TRAF6-deficient mice display hypohidrotic ectodermal dysplasia

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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

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

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7 January 2021

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

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7 January 2021

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

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Edar signaling in the control of hair follicle development

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

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7 January 2021

The Ectodysplasin and NFkappaB signalling pathways in odontogenesis.

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

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7 January 2021

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

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7 January 2021

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

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So-called "anhidrotic ectodermal dysplasia"

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Signaling to NF-kappaB

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Involvement of a novel Tnf receptor homologue in hair follicle induction

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7 January 2021

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

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

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7 January 2021

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

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7 January 2021

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

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

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7 January 2021

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

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7 January 2021

Towards a new classification of ectodermal dysplasias.

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Ectodysplasin signaling in development

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Mechanisms of ectodermal organogenesis

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7 January 2021

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

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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

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7 January 2021

The death effector domain protein family: regulators of cellular homeostasis

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The death domain superfamily: a tale of two interfaces?

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

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

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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)

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7 January 2021