Decreased expression in nuclear factor-κB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency. (Q54577574)

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English	Decreased expression in nuclear factor-κB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency.	scientific article

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6 February 2020

Decreased expression in nuclear factor-κB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency (English)

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6 February 2020

ectodermal dysplasia

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Takemasa Sakaguchi

10

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6 February 2020

Motoaki Ohtsubo

7

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6 February 2020

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Shuhei Karakawa

1

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6 February 2020

Satoshi Okada

2

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6 February 2020

Miyuki Tsumura

3

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6 February 2020

Yoko Mizoguchi

4

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6 February 2020

Norioki Ohno

5

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6 February 2020

Shin'ichiro Yasunaga

6

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6 February 2020

Tomoki Kawai

8

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6 February 2020

Ryuta Nishikomori

9

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6 February 2020

Yoshihiro Takihara

11

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6 February 2020

Masao Kobayashi

12

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6 February 2020

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1 July 2011

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6 February 2020

Journal of Clinical Immunology

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6 February 2020

31

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6 February 2020

5

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6 February 2020

762-772

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6 February 2020

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

Inherited disorders of NF-kappaB-mediated immunity in man.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide- and tumor necrosis factor-mediated NF-kappa B activation

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

Carboxyfluorescein diacetate succinimidyl ester and the virgin lymphocyte: a marriage made in heaven

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

Analysing cell division in vivo and in vitro using flow cytometric measurement of CFSE dye dilution.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

A catalogue of splice junction sequences

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

Genomic sequence, splicing, and gene annotation

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

Immune deficiency caused by impaired expression of nuclear factor-kappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

Role of receptor editing and revision in shaping the B and T lymphocyte repertoire.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

The NF-kappaB canonical pathway is involved in the control of the exonucleolytic processing of coding ends during V(D)J recombination.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

A culture amplified multi-parametric intracellular cytokine assay (CAMP-ICC) for enhanced detection of antigen specific T-cell responses.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

The Battle between Virus and Host: Modulation of Toll-Like Receptor Signaling Pathways by Virus Infection

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

The NEMO adaptor bridges the nuclear factor-kappaB and interferon regulatory factor signaling pathways

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

Suppression of NF-kappaB and AP-1 activation in monocytic cells persistently infected with measles virus

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

Measles virus P protein suppresses Toll-like receptor signal through up-regulation of ubiquitin-modifying enzyme A20.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-011-9560-4

21 January 2018

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21720903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/21720903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival

1 reference

https://pubmed.ncbi.nlm.nih.gov/21720903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21720903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/21720903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NEMO/IKK gamma: linking NF-kappa B to human disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21720903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21720903

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1007/S10875-011-9560-4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21720903%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21720903%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

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