(Q51359431)

http://europepmc.org/abstract/MED/27788288

4 April 2018

title

Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection. (English)

1 reference

http://europepmc.org/abstract/MED/27788288

4 April 2018

1 reference

15

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3 June 2020

Ryuta Nishikomori

17

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3 June 2020

author name string

Yuri Kawasaki

1

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3 June 2020

Hirotsugu Oda

2

1 reference

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3 June 2020

Jun Ito

3

1 reference

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3 June 2020

Akira Niwa

4

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3 June 2020

Takayuki Tanaka

5

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3 June 2020

Atsushi Hijikata

6

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3 June 2020

Ryosuke Seki

7

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3 June 2020

Ayako Nagahashi

8

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3 June 2020

Mitsujiro Osawa

9

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3 June 2020

Isao Asaka

10

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3 June 2020

Akira Watanabe

11

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3 June 2020

Shigeo Nishimata

12

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3 June 2020

Tsuyoshi Shirai

13

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3 June 2020

Hisashi Kawashima

14

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3 June 2020

Tatsutoshi Nakahata

16

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3 June 2020

Toshio Heike

18

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3 June 2020

Megumu K Saito

19

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3 June 2020

publication date

27 October 2016

1 reference

http://europepmc.org/abstract/MED/27788288

4 April 2018

published in

Arthritis & Rheumatology

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27788288%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

volume

69

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3 June 2020

issue

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27788288%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

page(s)

447-459

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27788288%20AND%20SRC:MED&resulttype=core&format=json

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

3 June 2020

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

21 January 2018

1 reference

An inherited mutation in NLRC4 causes autoinflammation in human and mice

21 January 2018

1 reference

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

21 January 2018

1 reference

Ten years of next-generation sequencing technology

21 January 2018

1 reference

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

21 January 2018

1 reference

Identification of genes for childhood heritable diseases

21 January 2018

1 reference

Recent advances in the study of somatic mosaicism and diseases other than cancer

21 January 2018

1 reference

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

21 January 2018

1 reference

Mechanisms and consequences of somatic mosaicism in humans

21 January 2018

1 reference

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

21 January 2018

1 reference

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

21 January 2018

1 reference

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

21 January 2018

1 reference

Induced pluripotent stem cell lines derived from human somatic cells

21 January 2018

1 reference

Disease-specific induced pluripotent stem cells

21 January 2018

1 reference

Direct reprogramming of terminally differentiated mature B lymphocytes to pluripotency

21 January 2018

1 reference

Somatic coding mutations in human induced pluripotent stem cells

21 January 2018

1 reference

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

21 January 2018

1 reference

Extreme efficiency of anti-interleukin 1 agent (anakinra) in a Japanese case of CINCA syndrome.

21 January 2018

1 reference

A case report of neonatal onset multisystemic inflammatory disease in Japan treated with continuous hemodiafiltration and steroid pulse therapy.

21 January 2018

1 reference

Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing

21 January 2018

1 reference

Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery

21 January 2018

1 reference

A novel serum-free monolayer culture for orderly hematopoietic differentiation of human pluripotent cells via mesodermal progenitors

21 January 2018

1 reference

Robust and highly-efficient differentiation of functional monocytic cells from human pluripotent stem cells under serum- and feeder cell-free conditions

21 January 2018

1 reference

Revisiting gap locations in amino acid sequence alignments and a proposal for a method to improve them by introducing solvent accessibility

21 January 2018

1 reference

Comparative protein structure modeling of genes and genomes

21 January 2018

1 reference

Crystal structure of NLRC4 reveals its autoinhibition mechanism

21 January 2018

1 reference

TAP-deficient human iPS cell-derived myeloid cell lines as unlimited cell source for dendritic cell-like antigen-presenting cells

21 January 2018

1 reference

Differential activation of the inflammasome by caspase-1 adaptors ASC and Ipaf

21 January 2018

1 reference

Silica crystals and aluminum salts activate the NALP3 inflammasome through phagosomal destabilization

21 January 2018

1 reference

Innate immune activation through Nalp3 inflammasome sensing of asbestos and silica

21 January 2018

1 reference

Activation of interferon-gamma inducing factor mediated by interleukin-1beta converting enzyme

21 January 2018

1 reference

Altered redox state of monocytes from cryopyrin-associated periodic syndromes causes accelerated IL-1beta secretion

21 January 2018

1 reference

Somatic mosaicism: implications for disease and transmission genetics

21 January 2018

1 reference

Unrevealed mosaicism in the next-generation sequencing era

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ART.39960

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27788288%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference