(Q47672451)

4 February 2018

title

A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus (English)

1 reference

4 February 2018

1 reference

5

Nobutaka Hattori

1 reference

4 February 2018

Kazuo Yamashiro

1

1 reference

4 February 2018

Ryota Tanaka

series ordinal

2

1 reference

4 February 2018

Yuanzhe Li

series ordinal

3

1 reference

4 February 2018

Michitaka Mikasa

series ordinal

4

1 reference

4 February 2018

publication date

30 August 2013

1 reference

4 February 2018

published in

Journal of Neurology

1 reference

4 February 2018

volume

260

1 reference

4 February 2018

issue

10

1 reference

4 February 2018

page(s)

2653-2655

1 reference

4 February 2018

https://scigraph.springernature.com/pub.10.1007/s00415-013-7084-y

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7084-Y

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/10.1007%2FS00415-013-7084-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7084-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7084-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7084-Y

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7084-Y

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7084-Y

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7084-Y

Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23989343

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23989343

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Chilblain lupus erythematosus (Hutchinson). A clinical and laboratory study of 17 patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23989343

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00415-013-7084-Y

1 reference

4 February 2018

1 reference

4 February 2018