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

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22 March 2020

7

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Marcello H Nogueira-Barbosa

22 March 2020

10

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22 March 2020

Paulo Louzada-Junior

12

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22 March 2020

15

Denise Horn

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22 March 2020

author name string

Luciana Martins de Carvalho

1

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22 March 2020

Gonza Ngoumou

2

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22 March 2020

Ji Woo Park

3

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22 March 2020

Nadja Ehmke

4

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22 March 2020

Nikolaus Deigendesch

5

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22 March 2020

Naoki Kitabayashi

6

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22 March 2020

Flávio Falcäo L Souza

8

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22 March 2020

Andreas Tzschach

9

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22 March 2020

Virgínia Ferriani

11

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22 March 2020

Wilson Marques

13

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22 March 2020

Charles M Lourenço

14

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22 March 2020

Tilmann Kallinich

16

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22 March 2020

Werner Stenzel

17

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22 March 2020

Sun Hur

18

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22 March 2020

Gillian I Rice

19

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22 March 2020

Yanick J Crow

20

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22 March 2020

publication date

22 August 2017

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22 March 2020

published in

Arthritis & Rheumatology

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22 March 2020

volume

69

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22 March 2020

issue

10

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22 March 2020

page(s)

2081-2091

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

22 March 2020

cites work

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

16 September 2018

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

16 September 2018

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16 September 2018

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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

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

16 September 2018

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

16 September 2018

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

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

16 September 2018

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

16 September 2018

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

16 September 2018

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

16 September 2018

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16 September 2018

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Aicardi-Goutières syndrome is caused by IFIH1 mutations.

16 September 2018

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

16 September 2018

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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

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Miscellaneous non-inflammatory musculoskeletal conditions. Jaccoud's arthropathy

16 September 2018

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

16 September 2018

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

16 September 2018

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

16 September 2018

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16 September 2018

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

16 September 2018

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

16 September 2018

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16 September 2018

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

16 September 2018

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16 September 2018

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

16 September 2018

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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