(Q41086656)

26 September 2017

Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells (English)

1 reference

common variable immunodeficiency

26 September 2017

1 reference

22

1 reference

26 September 2017

23

1 reference

26 September 2017

31

Pål Aukrust

0 references

Ulrich Salzer

Ulrich Salzer

8

0 references

Eva Ellinghaus

Eva Ellinghaus

39

0 references

Juliane Winkelmann

Juliane Winkelmann

21

0 references

Jordan Orange

Jordan S Orange

27

0 references

Leonid Padyukov

Leonid Padyukov

Charlotte Cunningham-Rundles

15

0 references

33

Charlotte Cunningham-Rundles

1 reference

26 September 2017

5

Klaus Warnatz

1 reference

26 September 2017

38

Lennart Hammarström

1 reference

26 September 2017

37

Hakon Hakonarson

1 reference

26 September 2017

29

Stefan Schreiber

1 reference

26 September 2017

35

Tom H Karlsen

1 reference

26 September 2017

17

Trine Folseraas

1 reference

26 September 2017

34

Andre Franke

1 reference

26 September 2017

36

Bodo Grimbacher

1 reference

26 September 2017

18

Faranaz Atschekzei

1 reference

26 September 2017

Jin Li

1

1 reference

26 September 2017

Silje F Jørgensen

2

1 reference

26 September 2017

S Melkorka Maggadottir

3

1 reference

26 September 2017

Marina Bakay

4

1 reference

26 September 2017

Joseph Glessner

6

1 reference

26 September 2017

Rahul Pandey

7

1 reference

26 September 2017

Reinhold E Schmidt

9

1 reference

26 September 2017

Elena Perez

10

1 reference

26 September 2017

Elena Resnick

11

1 reference

26 September 2017

Sigune Goldacker

12

1 reference

26 September 2017

Mary Buchta

13

1 reference

26 September 2017

Torsten Witte

14

1 reference

26 September 2017

Vibeke Videm

16

1 reference

26 September 2017

James T Elder

19

1 reference

26 September 2017

Rajan P Nair

20

1 reference

26 September 2017

Carsten Büning

24

1 reference

26 September 2017

Stephan Brand

25

1 reference

26 September 2017

Kathleen E Sullivan

26

1 reference

26 September 2017

Børre Fevang

28

1 reference

26 September 2017

Wolfgang Lieb

30

1 reference

26 September 2017

Helen Chapel

32

1 reference

26 September 2017

language of work or name

English

0 references

publication date

20 April 2015

1 reference

26 September 2017

Nature Communications

1 reference

26 September 2017

6

1 reference

26 September 2017

6804

1 reference

26 September 2017

1

1 reference

https://scigraph.springernature.com/pub.10.1038/ncomms7804

30 June 2019

exact match

0 references

cites work

The diabetes susceptibility gene Clec16a regulates mitophagy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Genetic insights into common pathways and complex relationships among immune-mediated diseases

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Imputing amino acid polymorphisms in human leukocyte antigens

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

MonoMAC syndrome in a patient with a GATA2 mutation: case report and review of the literature

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

From Identification to Characterization of the Multiple Sclerosis Susceptibility Gene CLEC16A.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

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

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

An integrated encyclopedia of DNA elements in the human genome

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Drosophila Golgi membrane protein Ema promotes autophagosomal growth and function.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

A linear complexity phasing method for thousands of genomes

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Genome-wide association identifies diverse causes of common variable immunodeficiency

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

LocusZoom: regional visualization of genome-wide association scan results

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

The novel endosomal membrane protein Ema interacts with the class C Vps-HOPS complex to promote endosomal maturation.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Multiple common variants for celiac disease influencing immune gene expression

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

CD20 deficiency in humans results in impaired T cell-independent antibody responses

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

A flexible and accurate genotype imputation method for the next generation of genome-wide association studies

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

PGA: power calculator for case-control genetic association analyses.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

PLINK: a tool set for whole-genome association and population-based linkage analyses

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

A new multipoint method for genome-wide association studies by imputation of genotypes

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Principal components analysis corrects for stratification in genome-wide association studies

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

An antibody-deficiency syndrome due to mutations in the CD19 gene

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

KORA-gen--resource for population genetics, controls and a broad spectrum of disease phenotypes

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

The International HapMap Project

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Quantification of the influence of cigarette smoking on rheumatoid arthritis: results from a population based case-control study, using incident cases

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Large-scale analysis of the human and mouse transcriptomes

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Shared HLA class II-associated genetic susceptibility and resistance, related to the HLA-DQB1 gene, in IgA deficiency and common variable immunodeficiency

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Improved whole-chromosome phasing for disease and population genetic studies

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Genetic CD21 deficiency is associated with hypogammaglobulinemia.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Common variable immunodeficiency: clinical and immunological features of 248 patients.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Family and linkage study of selective IgA deficiency and common variable immunodeficiency.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4444044

Persistent activation of the tumor necrosis factor system in a subgroup of patients with common variable immunodeficiency--possible immunologic and clinical consequences

19 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25891430

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25891430

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25891430

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NCOMMS7804

1 reference

26 September 2017

0 references

1 reference

26 September 2017

1 reference