X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling (Q28204249)

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5 November 2019

title

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

1 reference

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Anhidrotic ectodermal dysplasia

5 November 2019

main subject

NF-κB

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1 reference

2

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5 November 2019

Frederic Geissmann

4

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5 November 2019

Anne Durandy

6

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5 November 2019

Sophie Dupuis-Girod

9

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5 November 2019

Paul A Overbeek

14

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5 November 2019

Jean-Laurent Casanova

28

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5 November 2019

Hermann Kalhoff

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ORCID Public Data File 2021

author name string

R Döffinger

1

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C Bessia

3

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5 November 2019

J Feinberg

5

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C Bodemer

7

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S Kenwrick

8

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S Blanche

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P Wood

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S H Rabia

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D J Headon

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F Le Deist

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S M Holland

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K Belani

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D S Kumararatne

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R Shapiro

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M E Conley

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E Reimund

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H Kalhoff

23

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M Abinun

24

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A Israël

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G Courtois

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A Fischer

19

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A Munnich

25

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5 November 2019

language of work or name

English

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publication date

1 March 2001

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5 November 2019

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5 November 2019

volume

27

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5 November 2019

issue

3

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5 November 2019

page(s)

277-285

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Ectodermal dysplasias: a clinical classification and a causal review

5 November 2019

cites work

1 reference

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7 January 2021

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

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7 January 2021

Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells

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7 January 2021

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

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Extramedullary Hematopoiesis of the Cranial Dura and Anhidrotic Ectodermal Dysplasia

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Anhidrotic ectodermal dysplasia associated with specific antibody deficiency

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Ectodermal dysplasia and immunodeficiency

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Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

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7 January 2021

Incontinentia pigmenti

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

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7 January 2021

IKK-gamma is an essential regulatory subunit of the IkappaB kinase complex

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7 January 2021

The IKK complex: an integrator of all signals that activate NF-kappaB?

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NEMO/IKK gamma-deficient mice model incontinentia pigmenti.

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7 January 2021

Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti

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7 January 2021

Characterization of a mutant cell line that does not activate NF-kappaB in response to multiple stimuli

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7 January 2021

Involvement of a novel Tnf receptor homologue in hair follicle induction

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7 January 2021

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Genetic and Physical Mapping of theLpsLocus: Identification of the Toll-4 Receptor as a Candidate Gene in the Critical Region

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7 January 2021

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Requirement for NF-kappaB in osteoclast and B-cell development

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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

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

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

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7 January 2021

Identifiers

DOI

10.1038/85837

2 references

Consolidated OpenCitations Corpus – April 2017

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5 November 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017