(Q24337040)

English

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases

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scholarly article

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De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases (English)

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Interleukin 1 beta

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GOA release 2020-03-11

Interleukin 1 receptor antagonist

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GOA release 2020-03-11

NLR family pyrin domain containing 3

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GOA release 2020-03-11

cellular response to lipopolysaccharide

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GOA release 2020-03-11

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based on heuristic

inferred from title

object named as

Ricardo Russo

8

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Elaine F. Remmers

object named as

Elaine F Remmers

13

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Ivona Aksentijevich

1

object named as

Ivona Aksentijevich

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Daniel L. Kastner

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object named as

Daniel L Kastner

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Daniel J Lovell

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object named as

Daniel J Lovell

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Kenneth Schikler

24

object named as

Kenneth Schikler

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Hirsh D Komarow

16

object named as

Hirsh Komarow

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object named as

Karyl Barron

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4

object named as

Jae Jin Chae

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18

object named as

Geryl Wood

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14

object named as

James E Balow

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Sergio D Rosenzweig

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object named as

Sergio Rosenzweig

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object named as

Nitza G Shoham

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25

object named as

Hal Hoffman

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author name string

Miroslawa Nowak

2

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Mustapha Mallah

3

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Wendy T Watford

5

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Sigrun R Hofmann

6

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Leonard Stein

7

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Donald Goldsmith

9

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Peter Dent

10

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Helene F Rosenberg

11

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Frances Austin

12

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Janet Jones

19

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Nadira Mangra

20

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Hector Carrero

21

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Barbara S Adams

22

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Terry L Moore

23

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Robert Lipnick

27

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John J O'Shea

29

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Raphaela Goldbach-Mansky

31

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language of work or name

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publication date

December 2002

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Arthritis & Rheumatology

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46

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3340-8

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12

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Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes

1 reference

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19 March 2017

PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556432

19 March 2017

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556432

19 March 2017

PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556432

19 March 2017

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556432

19 March 2017

The PYRIN domain: a member of the death domain-fold superfamily

1 reference

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19 March 2017

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

1 reference

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19 March 2017

Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome

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19 March 2017

The PYRIN-CARD protein ASC is an activating adaptor for caspase-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556432

19 March 2017

Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis

1 reference

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19 March 2017

The PYRIN domain: a novel motif found in apoptosis and inflammation proteins

1 reference

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19 March 2017

The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation

1 reference

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19 March 2017

The NACHT family - a new group of predicted NTPases implicated in apoptosis and MHC transcription activation

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19 March 2017

Intracellular signal transduction in eosinophils and its clinical significance

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27 September 2017

Cytokines and chemoattractants in allergic inflammation

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27 September 2017

Hereditary periodic fever

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27 September 2017

Chronic infantile neurological cutaneous and articular syndrome: two new cases with rare manifestations

1 reference

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27 September 2017

Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever

1 reference

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27 September 2017

CARD15 mutations in Blau syndrome

1 reference

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27 September 2017

A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy

1 reference

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27 September 2017

PAAD - a new protein domain associated with apoptosis, cancer and autoimmune diseases.

1 reference

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27 September 2017

The DAPIN family: a novel domain links apoptotic and interferon response proteins

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556432

27 September 2017

TNFRSF1A mutations and autoinflammatory syndromes

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556432

27 September 2017

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556432

27 September 2017

Circadian elevation of IL-6 levels in Muckle-Wells syndrome: a disorder of the neuro-immune axis?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556432

27 September 2017

A candidate gene for familial Mediterranean fever

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27 September 2017

Infantile-onset multisystem inflammatory disease: a differential diagnosis of systemic juvenile rheumatoid arthritis

1 reference

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27 September 2017

Neonatal onset multisystem inflammatory disease.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556432

27 September 2017

Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556432

27 September 2017

Neonatal onset multisystem inflammatory disease

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556432

27 September 2017

Infantile multisystem inflammatory disease: a specific syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556432

27 September 2017

Infantile-onset multisystem inflammatory disease: radiologic findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556432

27 September 2017

A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients

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27 September 2017

NOMID--a neonatal syndrome of multisystem inflammation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556432

27 September 2017

Familial arthropathy with rash, uveitis and mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556432

27 September 2017

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30 May 2018

Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4556432

29 November 2018

The right stuff for a new syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12483741

12 December 2020

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Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

1 reference

https://pubmed.ncbi.nlm.nih.gov/12483741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recognition of infantile-onset multisystem inflammatory disease as a unique entity

1 reference

https://pubmed.ncbi.nlm.nih.gov/12483741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A fever gene comes in from the cold

1 reference

https://pubmed.ncbi.nlm.nih.gov/12483741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Balance of IL-1 receptor antagonist/IL-1 beta in rheumatoid synovium and its regulation by IL-4 and IL-10

1 reference

https://pubmed.ncbi.nlm.nih.gov/12483741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pyrin N-terminal homology domain- and caspase recruitment domain-dependent oligomerization of ASC

1 reference

https://pubmed.ncbi.nlm.nih.gov/12483741

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treatment of rheumatoid arthritis with anakinra, a recombinant human interleukin-1 receptor antagonist, in combination with methotrexate: results of a twenty-four-week, multicenter, randomized, double-blind, placebo-controlled trial

1 reference

https://pubmed.ncbi.nlm.nih.gov/12483741

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based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/ART.10688

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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