Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity (Q37262549)

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scientific article published on 11 October 2008

Language	Label	Description	Also known as
English	Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity	scientific article published on 11 October 2008

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

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

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

0 references

object named as

Eric P Hanson

1

0 references

object named as

Michael J May

6

0 references

Jordan S. Orange

object named as

Jordan S Orange

7

0 references

Linda Monaco-Shawver

2

object named as

Linda Monaco-Shawver

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

author name string

Laura A Solt

3

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Lisa A Madge

4

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Pinaki P Banerjee

5

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

language of work or name

0 references

publication date

11 October 2008

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

The Journal of Allergy and Clinical Immunology

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

122

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

6

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

1169-1177.e16

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Solution structure of NEMO zinc finger and impact of an anhidrotic ectodermal dysplasia with immunodeficiency-related point mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

Innate immunity--cross-talk with adaptive immunity through pattern recognition receptors and cytokines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

Expression and function of Toll-like receptors in T lymphocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

Introduction to NF-kappaB: players, pathways, perspectives

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

A20 inhibits tumor necrosis factor (TNF) alpha-induced apoptosis by disrupting recruitment of TRADD and RIP to the TNF receptor 1 complex in Jurkat T cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

6 September 2017

Rapid production of retroviruses for efficient gene delivery to mammalian cells using 293T cell-based systems

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

14 September 2017

NKp30 ligation induces rapid activation of the canonical NF-kappaB pathway in NK cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

14 September 2017

Dimerization of the I kappa B kinase-binding domain of NEMO is required for tumor necrosis factor alpha-induced NF-kappa B activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

28 September 2017

Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

26 June 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

3 September 2018

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

3 September 2018

Anhidrotic ectodermal dysplasia associated with specific antibody deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2710968

20 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18851874

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/18851874

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18851874

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transient hemophagocytosis with deficient cellular cytotoxicity, monoclonal immunoglobulin M gammopathy, increased T-cell numbers, and hypomorphic NEMO mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18851874

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epithelial-cell-intrinsic IKK-β expression regulates intestinal immune homeostasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18851874

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epithelial NEMO links innate immunity to chronic intestinal inflammation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18851874

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.JACI.2008.08.018

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

ResearchGate publication ID

0 references

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