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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Anne Durandy

6

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5 November 2019

Sophie Dupuis-Girod

9

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Paul A Overbeek

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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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J Feinberg

5

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C Bodemer

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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

15

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S M Holland

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K Belani

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D S Kumararatne

18

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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

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M Abinun

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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

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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

page(s)

277-285

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5 November 2019

issue

3

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Ectodermal dysplasias: a clinical classification and a causal review

5 November 2019

cites work

1 reference

7 January 2021

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

1 reference

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Acute miliary tuberculosis in a child with anhidrotic ectodermal dysplasia

1 reference

7 January 2021

Extramedullary Hematopoiesis of the Cranial Dura and Anhidrotic Ectodermal Dysplasia

1 reference

7 January 2021

Anhidrotic ectodermal dysplasia associated with specific antibody deficiency

1 reference

7 January 2021

[Polysaccharide specific humoral immunodeficiency in ectodermal dysplasia. Case report of a boy with two affected brothers]

1 reference

7 January 2021

Thymic hypoplasia and T-cell deficiency in ectodermal dysplasia: case report and review of the literature

1 reference

7 January 2021

1 reference

7 January 2021

Ectodermal dysplasia and immunodeficiency

1 reference

7 January 2021

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

1 reference

7 January 2021

Incontinentia pigmenti

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

NEMO/IKK gamma-deficient mice model incontinentia pigmenti.

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Involvement of a novel Tnf receptor homologue in hair follicle induction.

1 reference

7 January 2021

The IL-1 receptor/toll-like receptor superfamily: crucial receptors for inflammation and host defense

1 reference

7 January 2021

IL-12 synergizes with IL-18 or IL-1beta for IFN-gamma production from human T cells

1 reference

7 January 2021

Human tumor necrosis factor alpha gene regulation by virus and lipopolysaccharide

1 reference

7 January 2021

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

1 reference

7 January 2021

1 reference

7 January 2021

Activated human T cells express a ligand for the human B cell-associated antigen CD40 which participates in T cell-dependent activation of B lymphocytes

1 reference

7 January 2021

Ligation of CD40 on dendritic cells triggers production of high levels of interleukin-12 and enhances T cell stimulatory capacity: T-T help via APC activation

1 reference

7 January 2021

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

1 reference

7 January 2021

Tumor necrosis factor receptor family member RANK mediates osteoclast differentiation and activation induced by osteoprotegerin ligand

1 reference

7 January 2021

RANK is essential for osteoclast and lymph node development

1 reference

7 January 2021

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

1 reference

7 January 2021

1 reference

7 January 2021

Clinical spectrum of X-linked hyper-IgM syndrome

1 reference

7 January 2021

Differential roles of TLR2 and TLR4 in recognition of gram-negative and gram-positive bacterial cell wall components

1 reference

7 January 2021

IL-12 and IFN-gamma in host defense against mycobacteria and salmonella in mice and men.

1 reference

7 January 2021

Toll-like receptor-2 mediates mycobacteria-induced proinflammatory signaling in macrophages.

1 reference

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

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Identifiers

DOI

10.1038/85837

2 references

Consolidated OpenCitations Corpus – April 2017

95156

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5 November 2019

95156

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

95156

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11242109%20AND%20SRC:MED&resulttype=core&format=json