Varaico: Literature-Extracted Genetic Variants

Gene:PSTPIP1
Variant:p.D266N
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PSTPIP1

NM_003978.5:p.D266N

Associated Papers

Progressive increase of serum zinc level in a Pediatric patient with PSTPIP1- p.N236K mutation.

Takahashi C et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026

Dysregulation of inflammasomes in autoinflammatory diseases.

Hou C et al.

Joint Bone Spine, 2025

The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.

La Bella S et al.

Frontiers in Immunology, 2023

PSTPIP1-LYP phosphatase interaction: structural basis and implications for autoinflammatory disorders.

Manso JA et al.

Cellular and Molecular Life Sciences : Cmls, 2022

Clinical and genetic characteristics of PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome.

Zhang D et al.

Pediatric Rheumatology Online Journal, 2021

PAMI syndrome: A rare cause that can be easily misdiagnosed.

Xu XM et al.

American Journal of Medical Genetics. Part A, 2021

Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH)--a new autoinflammatory syndrome distinct from PAPA syndrome.

Braun-Falco M et al.

Journal of the American Academy of Dermatology, 2012

Mutations in the PSTPIP1 gene and aberrant splicing variants in patients with pyoderma gangrenosum.

Nesterovitch AB et al.

Clinical and Experimental Dermatology, 2011

Pyrin Modulates the Intracellular Distribution of PSTPIP1.

Waite AL et al.

Plos One, 2009

Dysregulation of innate immunity: hereditary periodic fever syndromes.

Bodar EJ et al.

British Journal of Haematology, 2009

From inflammasomes to fevers, crystals and hypertension: how basic research explains inflammatory diseases.

McDermott MF et al.

Trends in Molecular Medicine, 2007

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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."