(Q51547437)

6 April 2018

title

Familial chilblain lupus due to a gain-of-function mutation in STING. (English)

1 reference

6 April 2018

1 reference

1 reference

8

Osvaldo Chara

1 reference

6 April 2018

Min Ae Lee-Kirsch

12

object named as

Min Ae Lee-Kirsch

1 reference

6 April 2018

Hugo Ariel Alvarez

7

object named as

Hugo Ariel Alvarez

1 reference

6 April 2018

author name string

Nadja König

1

1 reference

6 April 2018

Christoph Fiehn

2

1 reference

6 April 2018

Christine Wolf

3

1 reference

6 April 2018

Max Schuster

4

1 reference

6 April 2018

Emanuel Cura Costa

5

1 reference

6 April 2018

Victoria Tüngler

6

1 reference

6 April 2018

Kerstin Engel

9

1 reference

6 April 2018

Raphaela Goldbach-Mansky

10

1 reference

6 April 2018

Claudia Günther

11

1 reference

6 April 2018

language of work or name

English

0 references

publication date

26 August 2016

1 reference

6 April 2018

Annals of the Rheumatic Diseases

published in

1 reference

6 April 2018

volume

76

1 reference

6 April 2018

issue

2

1 reference

6 April 2018

page(s)

468-472

1 reference

6 April 2018

Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

cites work

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

Trex1 prevents cell-intrinsic initiation of autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

SAMHD1 prevents autoimmunity by maintaining genome stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

STING and the innate immune response to nucleic acids in the cytosol

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

Cyclic GMP-AMP synthase is a cytosolic DNA sensor that activates the type I interferon pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

Activated STING in a vascular and pulmonary syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

Structural Analysis of the STING Adaptor Protein Reveals a Hydrophobic Dimer Interface and Mode of Cyclic di-GMP Binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

Structure of STING bound to cyclic di-GMP reveals the mechanism of cyclic dinucleotide recognition by the immune system

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

Regulation of type I interferon responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

The JAK-STAT pathway: impact on human disease and therapeutic intervention

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

Type I interferonopathies--an expanding disease spectrum of immunodysregulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

Ruxolitinib versus standard therapy for the treatment of polycythemia vera.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

Remission of recalcitrant dermatomyositis treated with ruxolitinib.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

JAK1/2 Inhibitor Ruxolitinib Controls a Case of Chilblain Lupus Erythematosus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2016-209841

10.1136/ANNRHEUMDIS-2016-209841

21 January 2018

Identifiers

DOI

1 reference

6 April 2018

PubMed ID

27566796

1 reference

6 April 2018