(Q36399888)

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

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scholarly article

1 reference

Europe PubMed Central

14 August 2017

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

1 reference

Europe PubMed Central

14 August 2017

multicenter clinical trial

0 references

1 reference

based on heuristic

inferred from title

9

1 reference

Europe PubMed Central

14 August 2017

Geneviève de Saint Basile

12

object named as

Geneviève de Saint Basile

0 references

Alessandra Pontillo

object named as

Alessandra Pontillo

20

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Juan I Arostegui

object named as

Juan I Aróstegui

16

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object named as

Osamu Ohara

6

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Ivona Aksentijevich

11

object named as

Ivona Aksentijevich

1 reference

Europe PubMed Central

14 August 2017

author name string

Naoko Tanaka

1

1 reference

Europe PubMed Central

14 August 2017

Kazushi Izawa

2

1 reference

Europe PubMed Central

14 August 2017

Megumu K Saito

3

1 reference

Europe PubMed Central

14 August 2017

Mio Sakuma

4

1 reference

Europe PubMed Central

14 August 2017

Koichi Oshima

5

1 reference

Europe PubMed Central

14 August 2017

Ryuta Nishikomori

7

1 reference

Europe PubMed Central

14 August 2017

Takeshi Morimoto

8

1 reference

Europe PubMed Central

14 August 2017

Raphaela Goldbach-Mansky

10

1 reference

Europe PubMed Central

14 August 2017

Bénédicte Neven

13

1 reference

Europe PubMed Central

14 August 2017

Mariëlle van Gijn

14

1 reference

Europe PubMed Central

14 August 2017

Joost Frenkel

15

1 reference

Europe PubMed Central

14 August 2017

Jordi Yagüe

17

1 reference

Europe PubMed Central

14 August 2017

Rosa Merino

18

1 reference

Europe PubMed Central

14 August 2017

Mercedes Ibañez

19

1 reference

Europe PubMed Central

14 August 2017

Hidetoshi Takada

21

1 reference

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Tomoyuki Imagawa

22

1 reference

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14 August 2017

Tomoki Kawai

23

1 reference

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Takahiro Yasumi

24

1 reference

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Tatsutoshi Nakahata

25

1 reference

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Toshio Heike

26

1 reference

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14 August 2017

publication date

1 November 2011

1 reference

Europe PubMed Central

14 August 2017

Arthritis & Rheumatology

1 reference

Europe PubMed Central

14 August 2017

63

1 reference

Europe PubMed Central

14 August 2017

11

1 reference

Europe PubMed Central

14 August 2017

3625-3632

1 reference

Europe PubMed Central

14 August 2017

Somatic gene mutation and human disease other than cancer: an update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498501

30 September 2017

The NLRP3 inflammasome: a sensor for metabolic danger?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498501

30 September 2017

The infevers autoinflammatory mutation online registry: update with new genes and functions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498501

30 September 2017

Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498501

30 September 2017

The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498501

30 September 2017

Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498501

30 September 2017

Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498501

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498501

30 September 2017

Familial autoinflammatory diseases: genetics, pathogenesis and treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498501

30 September 2017

Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498501

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498501

30 September 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=3498501

30 September 2017

A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498501

21 September 2018

Initial description of the human NLRP3 promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498501

21 September 2018

Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU

1 reference

https://pubmed.ncbi.nlm.nih.gov/21702021

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/21702021

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/ART.30512

1 reference

Europe PubMed Central

14 August 2017

1 reference

Europe PubMed Central

14 August 2017

1 reference

Europe PubMed Central

14 August 2017

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