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Article

A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.

Journal of neurology - 1 Oct 2013

Yamashiro Kazuo, Tanaka Ryota, Li Yuanzhe, Mikasa Michitaka, Hattori Nobutaka

Abstract excerpt

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Topics

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Share to Disease Progression
Share to Exodeoxyribonucleases
Share to Family Health
Share to TREX1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lupus Erythematosus, Cutaneous

Share to Magnetic Resonance Angiography

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Source

Identifiers

PMID: 23989343
DOI: 10.1007/s00415-013-7084-y

Genes

TREX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.PMID 23989343Read ↗

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 ↗

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 ↗

Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease.Semantic proximity Read ↗

First case of TREX1 mutation-driven retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations coexisting with lupus nephritis: a case report and mechanistic discussion.Semantic proximity Read ↗

TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophySemantic proximity Read ↗

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

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

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations in conjunction with systemic lupus erythematosus: Missed diagnosis or misdiagnosis?Semantic proximity Read ↗

Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.Semantic proximity Read ↗

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

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