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Article

Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.

The British journal of dermatology - 1 Jul 2012

Tüngler V, Silver R M, Walkenhorst H, Günther C, Lee-Kirsch M A

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Share to Aspartic Acid
Share to Autoimmune Diseases of the Nervous System
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lupus Erythematosus, Cutaneous

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Source

Identifiers

PMID: 22356656
DOI: 10.1111/j.1365-2133.2012.10813.x

Genes

TREX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.PMID 22356656Read ↗

Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.Semantic proximity Read ↗

Human disease phenotypes associated with mutations in TREX1.Semantic proximity Read ↗

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.Semantic proximity Read ↗

Clinical heterogeneity among a three-generation Japanese family with D18N TREX1 mutation for Aicardi-Goutières syndrome / familial chilblain lupusSemantic proximity Read ↗

Phenotypic variation in familial chilblain lupus (FCL) and Aicardi-Goutières syndrome (AGS) associated with TREX1 mutation in 4 family membersSemantic proximity Read ↗

Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndromeSemantic proximity Read ↗

A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.Semantic proximity Read ↗

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.Semantic proximity Read ↗

A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis.Semantic proximity Read ↗

Systemic involvement in TREX1-associated familial chilblain lupus.Semantic proximity Read ↗

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.Semantic proximity Read ↗

Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.Semantic proximity Read ↗

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