(Q54497195)

English

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

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scholarly article

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24300241

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study. (English)

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24300241

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based on heuristic

inferred from title

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10 June 2020

26

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10 June 2020

Hiroshi Ichinose

27

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10 June 2020

Ryuta Nishikomori

3

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10 June 2020

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10 June 2020

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10 June 2020

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10 June 2020

author name string

Junya Abe

1

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10 June 2020

Kazuyuki Nakamura

2

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10 June 2020

Noriko Mitsuiki

5

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10 June 2020

Tomoki Kawai

8

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10 June 2020

Takahiro Yasumi

9

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10 June 2020

Itaru Toyoshima

10

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10 June 2020

Kazuko Hasegawa

11

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10 June 2020

Toru Hiragi

13

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10 June 2020

Yoji Sasahara

14

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10 June 2020

Yasuhiro Suzuki

15

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10 June 2020

Masahiro Kikuchi

16

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10 June 2020

Hitoshi Osaka

17

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10 June 2020

Takashi Ohya

18

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10 June 2020

Shinya Ninomiya

19

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10 June 2020

Satoshi Fujikawa

20

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10 June 2020

Manami Akasaka

21

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10 June 2020

Naomi Iwata

22

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10 June 2020

Akiko Kawakita

23

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10 June 2020

Makoto Funatsuka

24

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10 June 2020

Haruo Shintaku

25

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10 June 2020

Toshio Heike

28

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10 June 2020

publication date

3 December 2013

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Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/24300241

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24300241%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

53

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10 June 2020

3

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10 June 2020

448-458

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10 June 2020

Aicardi-Goutieres syndrome: from patients to genes and beyond

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Aicardi-Goutieres syndrome.

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

The interferon-α signature of systemic lupus erythematosus

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Monogenic autoimmunity

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Structure of the dimeric exonuclease TREX1 in complex with DNA displays a proline-rich binding site for WW Domains

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Structural and biochemical studies of TREX1 inhibition by metals. Identification of a new active histidine conserved in DEDDh exonucleases

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Defects in DNA degradation revealed in crystal structures of TREX1 exonuclease mutations linked to autoimmune disease

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

New roles for the major human 3'-5' exonuclease TREX1 in human disease

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

The 1982 revised criteria for the classification of systemic lupus erythematosus

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Type I interferons in Sjögren's syndrome

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Raynaud's phenomenon and digital necrosis induced by interferon-alpha

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Acrocyanosis induced by interferon alpha(2a).

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Trex1 prevents cell-intrinsic initiation of autoimmunity

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome.

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Type I interferonopathies: a novel set of inborn errors of immunity

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKET372

21 January 2018

Identifiers

10.1093/RHEUMATOLOGY/KET372

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24300241%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24300241%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

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