NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy (Q40077247)

7 October 2017

NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy (English)

1 reference

NLR family pyrin domain containing 3

7 October 2017

1 reference

cellular response to lipopolysaccharide

GOA release 2020-03-11

1 reference

NLR family, pyrin domain containing 3

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

1 reference

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Michael Hoa

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

19

Ivona Aksentijevich

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

20

Daniel L Kastner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

4

Jae Jin Chae

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

18

Hal M Hoffman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

11

Yong Hwan Park

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

13

Carmen C Brewer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Gineth P Pinto-Patarroyo

6

object named as

Gineth Pinto-Patarroyo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Hiroshi Nakanishi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Yoshiyuki Kawashima

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Kiyoto Kurima

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Astin M Ross

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Seema K Patel

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Julie A Muskett

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Jessica S Ratay

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Parna Chattaraj

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Sriharsha Grevich

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

H Jeffrey Kim

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Lori Broderick

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Raphaela Goldbach-Mansky

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Andrew J Griffith

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

language of work or name

English

0 references

publication date

28 August 2017

1 reference

Proceedings of the National Academy of Sciences of the United States of America

7 October 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

114

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

E7766-E7775

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

issue

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness.

11 June 2020

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1 reference

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NLRP3 deficiency protects from type 1 diabetes through the regulation of chemotaxis into the pancreatic islets.

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A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases.

15 June 2018

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Early efficacy trial of anakinra in corticosteroid-resistant autoimmune inner ear disease.

15 June 2018

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Mechanism of NLRP3 inflammasome activation

15 June 2018

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Slc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction

15 June 2018

1 reference

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IL-1 blockade in autoinflammatory syndromes

15 June 2018

1 reference

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Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.

15 June 2018

1 reference

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Current concepts in age-related hearing loss: epidemiology and mechanistic pathways.

15 June 2018

1 reference

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The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP.

15 June 2018

1 reference

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NLRP1-dependent pyroptosis leads to acute lung injury and morbidity in mice

15 June 2018

1 reference

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Perivascular-resident macrophage-like melanocytes in the inner ear are essential for the integrity of the intrastrial fluid-blood barrier.

15 June 2018

1 reference

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Constitutively activated NLRP3 inflammasome causes inflammation and abnormal skeletal development in mice

15 June 2018

1 reference

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Immunolocalization of NLRP3 Inflammasome in Normal Murine Airway Epithelium and Changes following Induction of Ovalbumin-Induced Airway Inflammation

15 June 2018

1 reference

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Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Protective and pathogenic functions of macrophage subsets

15 June 2018

1 reference

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Cell type-specific transcriptome analysis reveals a major role for Zeb1 and miR-200b in mouse inner ear morphogenesis

15 June 2018

1 reference

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A noncoding point mutation of Zeb1 causes multiple developmental malformations and obesity in Twirler mice

15 June 2018

1 reference

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Intracellular sensing of microbes and danger signals by the inflammasomes

15 June 2018

1 reference

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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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Cryopyrin-associated periodic syndromes: otolaryngologic and audiologic manifestations

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Fatty acid and endotoxin activate inflammasomes in mouse hepatocytes that release danger signals to stimulate immune cells

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond

15 June 2018

1 reference

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A role for mitochondria in NLRP3 inflammasome activation

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

NLRP3 plays a critical role in the development of experimental autoimmune encephalomyelitis by mediating Th1 and Th17 responses

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

A mutation in the Nlrp3 gene causing inflammasome hyperactivation potentiates Th17 cell-dominant immune responses

15 June 2018

1 reference

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Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)

15 June 2018

1 reference

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The NALP3 inflammasome is involved in the innate immune response to amyloid-beta

15 June 2018

1 reference

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Repopulation of cochlear macrophages in murine hematopoietic progenitor cell chimeras: the role of CX3CR1.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

A cryopyrin-associated periodic syndrome with joint destruction.

15 June 2018

1 reference

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

15 June 2018

1 reference

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Critical role for NALP3/CIAS1/Cryopyrin in innate and adaptive immunity through its regulation of caspase-1

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Cryopyrin activates the inflammasome in response to toxins and ATP

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

15 June 2018

1 reference

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Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Analysis of fractalkine receptor CX(3)CR1 function by targeted deletion and green fluorescent protein reporter gene insertion

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Faster sequential genetic linkage computations

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

F4/80, a monoclonal antibody directed specifically against the mouse macrophage

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Macrosialin, a macrophage-restricted membrane sialoprotein differentially glycosylated in response to inflammatory stimuli

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Tissue-resident macrophages originate from yolk-sac-derived erythro-myeloid progenitors.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Inflammasome activators induce interleukin-1α secretion via distinct pathways with differential requirement for the protease function of caspase-1.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Differential expression of NLRP3 among hematopoietic cells.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Resident macrophages in the cochlear blood-labyrinth barrier and their renewal via migration of bone-marrow-derived cells.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Brain multiple sclerosis-like lesions in a patient with Muckle-Wells syndrome.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Mononuclear phagocytes migrate into the murine cochlea after acoustic trauma

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Exact genetic linkage computations for general pedigrees.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

The nature of inherited deafness in deafness mice.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Uses and abuses of hearing loss classification.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5604003

Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28847925

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.1702946114

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28847925%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference