Varaico: Literature-Extracted Genetic Variants

Gene:PSTPIP1
Variant:p.D246N
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PSTPIP1

NM_003978.5:p.D246N

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

Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.

Oprea Y et al.

American Journal of Clinical Dermatology, 2024

Genetic mutations in pyoderma gangrenosum, hidradenitis suppurativa, and associated autoinflammatory syndromes: Insights into pathogenic mechanisms and shared pathways.

Satoh TK

The Journal of Dermatology, 2024

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

Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome in a Chinese family: A case report and review of literature.

Lu LY et al.

World Journal of Clinical Cases, 2021

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

Case Report: Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne: A Single-Center Experience and Literature Review.

Wang Y et al.

Frontiers in Immunology, 2021

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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."