Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies (Q28254194)

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12 June 2020

José-Mario Capo-Chichi

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Dimitrios T Papadimitriou

12 June 2020

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12 June 2020

Jeremy Schwartzentruber

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12 June 2020

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Jacek Majewski

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12 June 2020

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Guy Van Vliet

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12 June 2020

author name string

Marie-Hélène Quentien

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12 June 2020

Konstantin Khetchoumian

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12 June 2020

Marco Bensa

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12 June 2020

Brigitte Delemer

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12 June 2020

Aurelio Balsalobre

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12 June 2020

Christina Nassif

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12 June 2020

Anne Pagnier

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12 June 2020

Caroline Hasselmann

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12 June 2020

Lysanne Patry

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12 June 2020

Pierre-François Souchon

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12 June 2020

Shinobu Takayasu

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12 June 2020

Alain Enjalbert

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12 June 2020

Jacques Drouin

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12 June 2020

Mark E Samuels

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12 June 2020

language of work or name

English

0 references

publication date

19 December 2014

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published in

BMC Medical Genetics

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12 June 2020

volume

15

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12 June 2020

issue

1

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page(s)

139

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25524009%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

12 June 2020

copyright license

start time

1 December 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

The selector gene Pax7 dictates alternate pituitary cell fates through its pioneer action on chromatin remodeling

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

Is NF-kappaB a good target for cancer therapy? Hopes and pitfalls

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

NF-kappaB-inducing kinase regulates the processing of NF-kappaB2 p100

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

NF-kappa B p100 (Lyt-10) is a component of H2TF1 and can function as an I kappa B-like molecule

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100.

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

Associations between pituitary imaging abnormalities and clinical and biochemical phenotypes in children with congenital growth hormone deficiency: data from an international observational study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

The noncanonical NF-κB pathway

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

Accumulation of p100, a precursor of NF-κB2, enhances osteoblastic differentiation in vitro and bone formation in vivo in aly/aly mice.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

NF-kappaB2 is required for the establishment of central tolerance through an Aire-dependent pathway

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

The alternative NF-kappaB pathway from biochemistry to biology: pitfalls and promises for future drug development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

Alternative pathways of NF-kappaB activation: a double-edged sword in health and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

Lymphotoxin and lipopolysaccharide induce NF-kappaB-p52 generation by a co-translational mechanism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

Isolated adrenocorticotropic hormone deficiency associated with common variable immunodeficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

Combined immune deficiency in a patient with a novel NFKB2 mutation

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

Novel NFKB2 mutation in early-onset CVID.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with adrenocorticotropin deficiency and severe infections.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

Renal granuloma and immunoglobulin M-complex glomerulonephritis: a case of common variable immunodeficiency?

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

A novel mutation in the Nfkb2 gene generates an NF-kappa B2 "super repressor".

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411703

Severe cortisol deficiency associated with reversible growth hormone deficiency in two infants: what is the link?

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25524009

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Panhypopituitarism in a child with common variable immunodeficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25524009

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Required and nonessential functions of nuclear factor-kappa B in bone cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25524009

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12881-014-0139-9

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25524009%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25524009%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25524009%20AND%20SRC:MED&resulttype=core&format=json