(Q38730136)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

title

Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

7

1 reference

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Marcello H Nogueira-Barbosa

22 March 2020

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Paulo Louzada-Junior

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

15

Denise Horn

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

author name string

Luciana Martins de Carvalho

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Gonza Ngoumou

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Ji Woo Park

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Nadja Ehmke

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Nikolaus Deigendesch

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Naoki Kitabayashi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Flávio Falcäo L Souza

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Andreas Tzschach

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Virgínia Ferriani

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Wilson Marques

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Charles M Lourenço

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Tilmann Kallinich

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Werner Stenzel

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Sun Hur

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Gillian I Rice

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Yanick J Crow

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

publication date

22 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

published in

Arthritis & Rheumatology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

volume

69

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

page(s)

2081-2091

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum

22 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome.

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children.

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

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

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

Brief Report: IFIH1 Mutation Causes Systemic Lupus Erythematosus With Selective IgA Deficiency.

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

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

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

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

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

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

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

Activated STING in a vascular and pulmonary syndrome

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

Aicardi-Goutières syndrome is caused by IFIH1 mutations.

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

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

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

Miscellaneous non-inflammatory musculoskeletal conditions. Jaccoud's arthropathy

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

Clinical review#: Lipodystrophies: genetic and acquired body fat disorders

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

Monocyte surface expression of Fcgamma receptor RI (CD64), a biomarker reflecting type-I interferon levels in systemic lupus erythematosus

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

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

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

Mediation of nonerosive arthritis in a mouse model of lupus by interferon-alpha-stimulated monocyte differentiation that is nonpermissive of osteoclastogenesis.

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

Spontaneous tendon rupture in systemic lupus erythematosus: association with Jaccoud's arthropathy.

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

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

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition

16 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6099183

Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

16 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FART.40179

Singleton-Merten syndrome: an autosomal dominant disorder with variable expression

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28605144

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

PubMed

https://pubmed.ncbi.nlm.nih.gov/28605144

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Jaccoud's arthropathy: proper classification criteria and treatment are still needed

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28605144

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ART.40179

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28605144%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

PubMed publication ID

28605144

1 reference