Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1 (Q33437743)

26 July 2017

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1 (English)

1 reference

26 July 2017

1 reference

1

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8 June 2020

Dessislava Malinova

2

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8 June 2020

Ying Hong

3

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8 June 2020

Julien Record

4

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8 June 2020

Dale Moulding

5

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8 June 2020

Michael P Blundell

6

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8 June 2020

Karolin Nowak

7

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8 June 2020

Kimberly Gilmour

10

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8 June 2020

Robert Kleta

13

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8 June 2020

Sira Nanthapisal

15

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8 June 2020

Adrian Thrasher

19

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8 June 2020

Paul Brogan

20

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8 June 2020

17

Nigel Klein

1 reference

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8 June 2020

author name string

Hannah Jones

8

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8 June 2020

Ebun Omoyinmi

9

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8 June 2020

Alan Medlar

11

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8 June 2020

Horia Stanescu

12

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8 June 2020

Glenn Anderson

14

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8 June 2020

Sonia Melo Gomes

16

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8 June 2020

Despina Eleftheriou

18

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8 June 2020

language of work or name

English

0 references

publication date

19 December 2016

1 reference

Journal of Experimental Medicine

26 July 2017

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8 June 2020

volume

214

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8 June 2020

issue

1

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8 June 2020

page(s)

59-71

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describes a project that uses

8 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5206503/fullTextXML

inferred from PubMed Central ID database lookup

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WASp-dependent actin cytoskeleton stability at the dendritic cell immunological synapse is required for extensive, functional T cell contacts.

21 June 2018

1 reference

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Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β.

21 June 2018

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

21 June 2018

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21 June 2018

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Innate immune sensing of bacterial modifications of Rho GTPases by the Pyrin inflammasome

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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Activation of the pyrin inflammasome by intracellular Burkholderia cenocepacia

21 June 2018

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The Type VI secretion system of Burkholderia cenocepacia affects multiple Rho family GTPases disrupting the actin cytoskeleton and the assembly of NADPH oxidase complex in macrophages.

21 June 2018

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The Wiskott-Aldrich syndrome protein permits assembly of a focused immunological synapse enabling sustained T-cell receptor signaling.

21 June 2018

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MutationTaster evaluates disease-causing potential of sequence alterations

21 June 2018

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A method and server for predicting damaging missense mutations

21 June 2018

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Pyrin and ASC co-localize to cellular sites that are rich in polymerizing actin

21 June 2018

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The role of beta2 integrins and lipopolysaccharide-binding protein in the phagocytosis of dead Neisseria meningitidis

21 June 2018

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Cofilin recruitment and function during actin-mediated endocytosis dictated by actin nucleotide state

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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Autoinflammation and immunodeficiency

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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31 October 2018

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12 December 2020

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Cytoskeletal remodeling mediated by WASp in dendritic cells is necessary for normal immune synapse formation and T-cell priming

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Identifiers

DOI

10.1084/JEM.20161228

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27994071%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27994071%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference