(Q36557821)

English

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.

scientific article published on 18 August 2015

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26284909%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes (English)

1 reference

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22 February 2020

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2

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22 February 2020

Simon G Williams

6

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22 February 2020

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22 February 2020

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A-C Bursztejn

1

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22 February 2020

Y del Toro Duany

3

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22 February 2020

B H Anderson

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22 February 2020

J O'Sullivan

5

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22 February 2020

C Bodemer

7

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22 February 2020

S Fraitag

8

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22 February 2020

F Gebhard

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22 February 2020

B Leheup

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22 February 2020

I Lemelle

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22 February 2020

A Oojageer

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22 February 2020

E Raffo

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22 February 2020

E Schmitt

14

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22 February 2020

G I Rice

15

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22 February 2020

S Hur

16

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22 February 2020

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publication date

29 October 2015

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22 February 2020

British Journal of Dermatology

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22 February 2020

173

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22 February 2020

6

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22 February 2020

1505-1513

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22 February 2020

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

30 September 2017

Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

30 September 2017

Type I interferonopathies: mendelian type I interferon up-regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

30 September 2017

Activated STING in a vascular and pulmonary syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

30 September 2017

Aicardi-Goutières syndrome is caused by IFIH1 mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

30 September 2017

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

30 September 2017

Early-onset stroke and vasculopathy associated with mutations in ADA2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

30 September 2017

Cytosolic sensing of viruses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

30 September 2017

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

30 September 2017

Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi): report of a Japanese family with the condition and a literature review of 185 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

30 September 2017

Autoimmune disorders associated with gain of function of the intracellular sensor MDA5.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

28 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

28 June 2018

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

21 September 2018

Red and purple papules on the dorsum of fingers and toes in a woman

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

21 September 2018

Genetic variants in IFIH1 play opposite roles in the pathogenesis of psoriasis and chronic periodontitis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

21 September 2018

Enhanced skin expression of melanoma differentiation-associated gene 5 (MDA5) in dermatomyositis and related autoimmune diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

21 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4745891

21 September 2018

Cutaneous histopathological findings of AicardiGoutires syndrome, overlap with chilblain lupus

1 reference

https://api.crossref.org/works/10.1111%2FBJD.14073

21 January 2018

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.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26284909

12 December 2020

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22 February 2020

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24 November 2022

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22 February 2020

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22 February 2020

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