(Q35072760)

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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

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20542322%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

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 (English)

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Europe PubMed Central

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5 February 2020

Caterina Cancrini

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5 February 2020

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5 February 2020

Silvia Di Cesare

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5 February 2020

Luigi D Notarangelo

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Luigi Notarangelo

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5 February 2020

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Jana L Mooster

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5 February 2020

Alessandra Simonetti

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5 February 2020

Gigliola Di Matteo

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5 February 2020

Maria Luisa Romiti

6

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5 February 2020

Raif S Geha

9

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5 February 2020

Douglas R McDonald

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5 February 2020

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12 June 2010

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5 February 2020

The Journal of Allergy and Clinical Immunology

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5 February 2020

126

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5 February 2020

1

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5 February 2020

127-32.e7

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5 February 2020

Pathogen recognition in the innate immune response.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3124805

8 July 2018

Regulation and function of NF-kappaB transcription factors in the immune system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3124805

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3124805

8 July 2018

EDA signaling and skin appendage development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3124805

8 July 2018

Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKgamma gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3124805

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3124805

8 July 2018

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=3124805

8 July 2018

Inherited disorders of human Toll-like receptor signaling: immunological implications.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3124805

8 July 2018

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=3124805

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3124805

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3124805

8 July 2018

Missing pieces in the NF-kappaB puzzle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3124805

8 July 2018

Phosphorylation meets ubiquitination: the control of 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=3124805

8 July 2018

NF-kappa B and Rel proteins: evolutionarily conserved mediators of immune responses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3124805

8 July 2018

Interleukin receptor-associated kinase-4 deficiency impairs Toll-like receptor-dependent innate antiviral immune responses.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3124805

27 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=3124805

27 September 2018

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10.1016/J.JACI.2010.04.026

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5 February 2020

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5 February 2020

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5 February 2020

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