(Q34677647)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25406581%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25406581%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

19

1 reference

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23 February 2020

Katharina L Willmann

1

1 reference

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23 February 2020

Emily M. Mace

7

1 reference

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23 February 2020

Elisabeth Salzer

8

1 reference

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23 February 2020

Gregory I Vladimer

13

1 reference

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23 February 2020

Jacques Colinge

18

1 reference

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23 February 2020

Menno C van Zelm

21

1 reference

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23 February 2020

Jordan S. Orange

23

1 reference

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23 February 2020

author name string

Stefanie Klaver

2

1 reference

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23 February 2020

Figen Doğu

3

1 reference

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23 February 2020

Elisangela Santos-Valente

4

1 reference

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23 February 2020

Wojciech Garncarz

5

1 reference

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23 February 2020

Ivan Bilic

6

1 reference

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23 February 2020

Cecilia Domínguez Conde

9

1 reference

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23 February 2020

Heiko Sic

10

1 reference

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23 February 2020

Peter Májek

11

1 reference

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23 February 2020

Pinaki P Banerjee

12

1 reference

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23 February 2020

Sule Haskoloğlu

14

1 reference

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23 February 2020

Musa Gökalp Bolkent

15

1 reference

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23 February 2020

Alphan Küpesiz

16

1 reference

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23 February 2020

Antonio Condino-Neto

17

1 reference

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23 February 2020

Winfried F Pickl

20

1 reference

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23 February 2020

Hermann Eibel

22

1 reference

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23 February 2020

Aydan Ikincioğulları

24

1 reference

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23 February 2020

Kaan Boztuğ

25

1 reference

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23 February 2020

language of work or name

English

0 references

publication date

19 November 2014

1 reference

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23 February 2020

published in

Nature Communications

1 reference

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23 February 2020

volume

5

1 reference

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23 February 2020

page(s)

5360

1 reference

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Creative Commons Attribution 4.0 International

23 February 2020

copyright license

start time

19 November 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/ncomms6360

0 references

cites work

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7 July 2018

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Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

7 July 2018

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

7 July 2018

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Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

7 July 2018

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Cell-intrinsic role for NF-kappa B-inducing kinase in peripheral maintenance but not thymic development of Foxp3+ regulatory T cells in mice

7 July 2018

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A cell-intrinsic requirement for NF-κB-inducing kinase in CD4 and CD8 T cell memory.

7 July 2018

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Natural killer cell deficiency

7 July 2018

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Primary antibody deficiencies

7 July 2018

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The good, the bad and the ugly - TFH cells in human health and disease

7 July 2018

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CD62L is critical for maturation and accumulation of murine hepatic NK cells in response to viral infection

7 July 2018

1 reference

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B-cell biology and development

7 July 2018

1 reference

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Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

7 July 2018

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B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.

7 July 2018

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Predicting functional effect of human missense mutations using PolyPhen-2.

7 July 2018

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The kinase TBK1 controls IgA class switching by negatively regulating noncanonical NF-κB signaling

7 July 2018

1 reference

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The crystal structure of the catalytic domain of the NF-κB inducing kinase reveals a narrow but flexible active site

7 July 2018

1 reference

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Viral immune modulators perturb the human molecular network by common and unique strategies

7 July 2018

1 reference

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Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.

7 July 2018

1 reference

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Structure of the Nuclear Factor B-inducing Kinase (NIK) Kinase Domain Reveals a Constitutively Active Conformation

7 July 2018

1 reference

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IMGT(®) tools for the nucleotide analysis of immunoglobulin (IG) and T cell receptor (TR) V-(D)-J repertoires, polymorphisms, and IG mutations: IMGT/V-QUEST and IMGT/HighV-QUEST for NGS.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

NIK prevents the development of hypereosinophilic syndrome-like disease in mice independent of IKKα activation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

BCR-signalling synergizes with TLR-signalling for induction of AID and immunoglobulin class-switching through the non-canonical NF-κB pathway

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

The noncanonical NF-κB pathway

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Bilateral adrenal EBV-associated smooth muscle tumors in a child with a natural killer cell deficiency

7 July 2018

1 reference

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Functional STAT3 deficiency compromises the generation of human T follicular helper cells.

7 July 2018

1 reference

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Noncanonical NF-kappaB regulates inducible costimulator (ICOS) ligand expression and T follicular helper cell development

7 July 2018

1 reference

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Human memory B cells originate from three distinct germinal center-dependent and -independent maturation pathways

7 July 2018

1 reference

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Two newly diagnosed HLA class II-deficient patients identified by rapid vector-based complementation analysis reveal discoordinate invariant chain expression levels.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Regulation of Th17 cell differentiation and EAE induction by MAP3K NIK.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

A coarse-grained potential for fold recognition and molecular dynamics simulations of proteins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

NIK overexpression amplifies, whereas ablation of its TRAF3-binding domain replaces BAFF:BAFF-R-mediated survival signals in B cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

TRAF2 and TRAF3 signal adapters act cooperatively to control the maturation and survival signals delivered to B cells by the BAFF receptor.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

The role of ICOS in the development of CD4 T cell help and the reactivation of memory T cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

PrimerZ: streamlined primer design for promoters, exons and human SNPs

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

CUPSAT: prediction of protein stability upon point mutations.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Regulation of protein kinases; controlling activity through activation segment conformation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Selective expression of IL-7 receptor on memory T cells identifies early CD40L-dependent generation of distinct CD8+ memory T cell subsets

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

The mature activating natural killer cell immunologic synapse is formed in distinct stages

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

SIFT: Predicting amino acid changes that affect protein function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

RelB is required for Peyer's patch development: differential regulation of p52-RelB by lymphotoxin and TNF

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Activation by IKKalpha of a second, evolutionary conserved, NF-kappa B signaling pathway

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Essential role of nuclear factor (NF)-kappaB-inducing kinase and inhibitor of kappaB (IkappaB) kinase alpha in NF-kappaB activation through lymphotoxin beta receptor, but not through tumor necrosis factor receptor I

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Interleukin-7 mediates the homeostasis of naïve and memory CD8 T cells in vivo

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Alymphoplasia is caused by a point mutation in the mouse gene encoding Nf-kappa b-inducing kinase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Cutting edge: recruitment of the CD19/CD21 coreceptor to B cell antigen receptor is required for antigen-mediated expression of Bcl-2 by resting and cycling hen egg lysozyme transgenic B cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Tumor necrosis factor (TNF)-mediated kinase cascades: bifurcation of nuclear factor-kappaB and c-jun N-terminal kinase (JNK/SAPK) pathways at TNF receptor-associated factor 2

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Activation of NF-kappaB/Rel by CD40 engagement induces the mouse germ line immunoglobulin Cgamma1 promoter

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

T-cell repertoire diversity and clonal expansions in normal and clinical samples

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Genetic CD21 deficiency is associated with hypogammaglobulinemia.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Reference values for B cell subpopulations from infancy to adulthood.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Roles of TRAF2 and TRAF3 in Epstein-Barr virus latent membrane protein 1-induced alternative NF-kappaB activation

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Impaired CD4 and CD8 effector function and decreased memory T cell populations in ICOS-deficient patients

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Age-matched lymphocyte subpopulation reference values in childhood and adolescence: application of exponential regression analysis.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

TNF family member B cell-activating factor (BAFF) receptor-dependent and -independent roles for BAFF in B cell physiology.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Cutting edge: BAFF regulates CD21/35 and CD23 expression independent of its B cell survival function

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Selective expression of the interleukin 7 receptor identifies effector CD8 T cells that give rise to long-lived memory cells.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Interleukin-4-mediated protection of primary B cells from apoptosis through Stat6-dependent up-regulation of Bcl-xL.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Defective lymphotoxin-beta receptor-induced NF-kappaB transcriptional activity in NIK-deficient mice.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Dependence of germinal center B cells on expression of CD21/CD35 for survival.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Disruption of the Cr2 locus results in a reduction in B-1a cells and in an impaired B cell response to T-dependent antigen.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4263125

Isotype Switching by Human B Cells Is Division-Associated and Regulated by Cytokines

26 October 2018

1 reference

12 December 2020

Sensitive and viable identification of antigen-specific CD8+ T cells by a flow cytometric assay for degranulation

1 reference

12 December 2020

Human interleukin-2 promotes proliferation of activated B cells via surface receptors similar to those of activated T cells

1 reference

12 December 2020

B-cell apoptosis induced by antigen receptor crosslinking is blocked by a T-cell signal through CD40

1 reference

12 December 2020

A new mutation, aly, that induces a generalized lack of lymph nodes accompanied by immunodeficiency in mice

1 reference

12 December 2020

Defects of somatic hypermutation and class switching in alymphoplasia (aly) mutant mice

1 reference

12 December 2020

Flowcytometric phenotyping of common variable immunodeficiency

1 reference

12 December 2020

Inhibition of human B-cell development into plasmablasts by histone deacetylase inhibitor valproic acid

1 reference

12 December 2020

Identifiers

DOI

10.1038/NCOMMS6360

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25406581%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

23 February 2020

ADS bibcode

2014NatCo...5.5360W

0 references

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25406581%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PubMed publication ID

25406581

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25406581%20AND%20SRC:MED&resulttype=core&format=json