(Q36694148)

15 August 2017

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

1 reference

15 August 2017

19

Axel Schambach

0 references

Peter Robinson

8

Peter N Robinson

0 references

Stefan Mundlos

25

Stefan Mundlos

1 reference

15 August 2017

Christian J Braun

5

0 references

Eric P. Hanson

Eric P Hanson

18

0 references

Peter Krawitz

Peter M Krawitz

7

0 references

Susan Moir

22

Susan Moir

1 reference

15 August 2017

24

Petra Schwille

1 reference

15 August 2017

3

Gulbu Uzel

1 reference

15 August 2017

4

Thomas Weidemann

1 reference

15 August 2017

12

Alejandro A Schäffer

1 reference

15 August 2017

10

Jacek Puchałka

1 reference

15 August 2017

Daniel Kotlarz

1

1 reference

15 August 2017

Natalia Ziętara

2

1 reference

15 August 2017

Jana Diestelhorst

6

1 reference

15 August 2017

Jochen Hecht

9

1 reference

15 August 2017

E Michael Gertz

11

1 reference

15 August 2017

Monica G Lawrence

13

1 reference

15 August 2017

Lela Kardava

14

1 reference

15 August 2017

Dietmar Pfeifer

15

1 reference

15 August 2017

Ulrich Baumann

16

1 reference

15 August 2017

Eva-Doreen Pfister

17

1 reference

15 August 2017

Roland Jacobs

20

1 reference

15 August 2017

Hans Kreipe

21

1 reference

15 August 2017

Joshua D Milner

23

1 reference

15 August 2017

Christoph Klein

26

1 reference

15 August 2017

language of work or name

English

0 references

publication date

25 February 2013

1 reference

Journal of Experimental Medicine

15 August 2017

1 reference

15 August 2017

210

1 reference

15 August 2017

3

1 reference

15 August 2017

433-443

1 reference

describes a project that uses

15 August 2017

limma

1 reference

22 June 2022

https://europepmc.org/article/PMC/3600901

inferred from PubMed Central ID database lookup

cites work

Crystal Structure of Interleukin-21 Receptor (IL-21R) Bound to IL-21 Reveals That Sugar Chain Interacting with WSXWS Motif Is Integral Part of IL-21R

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Single cell analysis of ligand binding and complex formation of interleukin-4 receptor subunits.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Revisiting Mendelian disorders through exome sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Microindel detection in short-read sequence data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

BEDTools: a flexible suite of utilities for comparing genomic features

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

MolProbity: all-atom structure validation for macromolecular crystallography

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

The Sequence Alignment/Map format and SAMtools

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Interleukin-21: Basic Biology and Implications for Cancer and Autoimmunity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Primary immunodeficiencies: a field in its infancy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Essential autocrine regulation by IL-21 in the generation of inflammatory T cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

IL-6 programs T(H)-17 cell differentiation by promoting sequential engagement of the IL-21 and IL-23 pathways

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

The IL-21 receptor augments Th2 effector function and alternative macrophage activation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Linear models and empirical bayes methods for assessing differential expression in microarray experiments

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Bioconductor: open software development for computational biology and bioinformatics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

A critical role for IL-21 in regulating immunoglobulin production

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Interleukin-21 and the IL-21 receptor: novel effectors of NK and T cell responses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Human non-synonymous SNPs: server and survey

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Accounting for human polymorphisms predicted to affect protein function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Cloning of a type I cytokine receptor most related to the IL-2 receptor beta chain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Saturation mutagenesis of the WSXWS motif of the erythropoietin receptor.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

IL-21 induces differentiation of human naive and memory B cells into antibody-secreting plasma cells.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

IL-21 receptor is critical for the development of memory B cell responses.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

IL-21R on T cells is critical for sustained functionality and control of chronic viral infection

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Cryptosporidium infection in patients with primary immunodeficiencies.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

DNAse treatment following thawing of cryopreserved PBMC is a procedure suitable for lymphocyte functional studies.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3600901

Protein modelling for all

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1084%2FJEM.20111229

Systemic lupus erythematosus and rheumatoid arthritis patients differ from healthy controls in their cytokine pattern after stress exposure

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23440042

12 December 2020

inferred from PubMed ID database lookup

Major histocompatibility complex class II deficiency: clinical manifestations, immunologic features, and outcome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23440042

12 December 2020

inferred from PubMed ID database lookup

IL-21 limits NK cell responses and promotes antigen-specific T cell activation: a mediator of the transition from innate to adaptive immunity

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23440042

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1084/JEM.20111229

1 reference

15 August 2017

1 reference

15 August 2017

1 reference