Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.I424S
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SQSTM1

NM_003900.5:p.I424S

Associated Papers

Molecular modelling and dynamic simulations of sequestosome 1 (SQSTM1) missense mutations linked to Paget disease of bone.

Shaik NA et al.

Journal of Biomolecular Structure & Dynamics, 2021

Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers: Baseline Analysis of the ZiPP Study Cohort.

Cronin O et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020

Clinical and Genetic Advances in Paget's Disease of Bone: a Review.

Alonso N et al.

Clinical Reviews in Bone and Mineral Metabolism, 2017

Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function.

Goode A et al.

Biochimica Et Biophysica Acta, 2014

New insights into the role of sequestosome 1/p62 mutant proteins in the pathogenesis of Paget's disease of bone.

Rea SL et al.

Endocrine Reviews, 2013

Paget's disease of bone: evidence for complex pathogenetic interactions.

Chung PY et al.

Seminars in Arthritis and Rheumatism, 2012

Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone.

Visconti MR et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2010

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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."