(Q28290224)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16397577%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

review article

1 reference

title

NF-kappaB-related genetic diseases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16397577%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16397577%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

author name string

Courtois G

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16397577%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

language of work or name

English

0 references

publication date

1 May 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16397577%20AND%20SRC:MED&resulttype=core&format=json

Cell Death & Differentiation

15 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16397577%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16397577%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16397577%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

page(s)

843-851

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16397577%20AND%20SRC:MED&resulttype=core&format=json

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

15 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

TNF-induced recruitment and activation of the IKK complex require Cdc37 and Hsp90

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

Activation of transcription factor NF-kappaB requires ELKS, an IkappaB kinase regulatory subunit

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

Recruitment of the IKK signalosome to the p55 TNF receptor: RIP and A20 bind to NEMO (IKKgamma) upon receptor stimulation

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

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)

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

Identification of the familial cylindromatosis tumour-suppressor gene

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

The tumour suppressor CYLD negatively regulates NF-kappaB signalling by deubiquitination

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

The tumor suppressor CYLD interacts with TRIP and regulates negatively nuclear factor kappaB activation by tumor necrosis factor

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

IRAK-4 as the central TIR signaling mediator in innate immunity

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

Pyogenic bacterial infections in humans with IRAK-4 deficiency

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/SJ.CDD.4401841

21 April 2017

Signaling to NF-kappaB

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

IKKgamma mediates the interaction of cellular IkappaB kinases with the tax transforming protein of human T cell leukemia virus type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

The trimerization domain of NEMO is composed of the interacting C-terminal CC2 and LZ coiled-coil subdomains

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

The carboxyl-terminal region of IkappaB kinase gamma (IKKgamma) is required for full IKK activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

Two pathways to NF-kappaB.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

Incontinentia pigmenti: clinical and neuroradiologic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

Pleiotropic function of Toll-like receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

Ectodermal dysplasias: a clinical classification and a causal review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

Involvement of a novel Tnf receptor homologue in hair follicle induction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

TNF signaling via the ligand-receptor pair ectodysplasin and edar controls the function of epithelial signaling centers and is regulated by Wnt and activin during tooth organogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

Osteopetrosis in mice lacking NF-kappaB1 and NF-kappaB2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

Negative regulation of JNK signaling by the tumor suppressor CYLD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

Late Recurrence of Inflammatory First-Stage Lesions in Incontinentia Pigmenti

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

Incontinentia pigmenti (Bloch-Sulzberger syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

7 January 2021

Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

7 January 2021

Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

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

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

7 January 2021

Incontinentia pigmenti: an extensive second episode of a "first-stage" vesicobullous eruption

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

7 January 2021

Acute miliary tuberculosis in a child with anhidrotic ectodermal dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

7 January 2021

Extramedullary Hematopoiesis of the Cranial Dura and Anhidrotic Ectodermal Dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

7 January 2021

Anhidrotic ectodermal dysplasia associated with specific antibody deficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

7 January 2021

A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

7 January 2021

Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

7 January 2021

Recurrent 'sterile' verrucous cyst abscesses and epidermodysplasia verruciformis-like eruption associated with idiopathic CD4 lymphopenia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

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/10.1038%2FSJ.CDD.4401841

7 January 2021

Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

7 January 2021

CYLD mutation causes multiple familial trichoepithelioma in three Chinese families

1 reference

https://api.crossref.org/works/10.1038%2FSJ.CDD.4401841

7 January 2021