Varaico: Literature-Extracted Genetic Variants

Gene:PTPN6
Variant:p.Y208N
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PTPN6

NM_002831.6:p.Y208N

Associated Papers

Loss of Shp1 impairs myeloid cell function and causes lethal inflammation in zebrafish larvae.

Allers M et al.

Disease Models & Mechanisms, 2023

Ets-2 deletion in myeloid cells attenuates IL-1α-mediated inflammatory disease caused by a Ptpn6 point mutation.

Tartey S et al.

Cellular & Molecular Immunology, 2021

Inflammasomes in the pathophysiology of autoinflammatory syndromes.

Tartey S et al.

Journal of Leukocyte Biology, 2020

KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease.

Takeichi T et al.

Frontiers in Immunology, 2020

Cutting Edge: Dysregulated CARD9 Signaling in Neutrophils Drives Inflammation in a Mouse Model of Neutrophilic Dermatoses.

Tartey S et al.

Journal of Immunology (baltimore, Md. : 1950), 2018

ASK1/2 signaling promotes inflammation in a mouse model of neutrophilic dermatosis.

Tartey S et al.

The Journal of Clinical Investigation, 2018

Shp1 function in myeloid cells.

Abram CL et al.

Journal of Leukocyte Biology, 2017

Tyrosine Kinase SYK Licenses MyD88 Adaptor Protein to Instigate IL-1α-Mediated Inflammatory Disease.

Gurung P et al.

Immunity, 2017

SHP-1 and IL-1α conspire to provoke neutrophilic dermatoses.

Lukens JR et al.

Rare Diseases (austin, Tex.), 2014

RIP1-driven autoinflammation targets IL-1α independently of inflammasomes and RIP3.

Lukens JR et al.

Nature, 2013

Distinct roles for neutrophils and dendritic cells in inflammation and autoimmunity in motheaten mice.

Abram CL et al.

Immunity, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."