Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO1
Variant:p.M2225R
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PIEZO1

NM_001142864.4:p.M2225R

Associated Papers

Deciphering gain-of-function from loss-of-function variants with AlphaMissense: A case study with the mechanosensitive PIEZO1 ion channel protein.

Pillai J et al.

Biochemistry and Biophysics Reports, 2026

41717081 (PubMed )
Supplement: mmc2.xlsx › Change_in_Free_Energy_of_Stabil

PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescue.

Ludlow MJ et al.

Iscience, 2025

PIEZO1 variant implications for biological understanding and human health.

Cheng CW et al.

Open Biology, 2025

A 3-year-old Tanzanian Female with Glucose-6-Phosphate Dehydrogenase A- and a Novel Heterozygous PIEZO1 Mutation (2744A>G, N915S) Presenting with Severe Hemolytic Anemia.

Fustino NJ et al.

Annals of African Medicine, 2024

Mechanisms of PIEZO Channel Inactivation.

Zhou Z et al.

International Journal of Molecular Sciences, 2023

Global PIEZO1 Gain-of-Function Mutation Causes Cardiac Hypertrophy and Fibrosis in Mice.

Bartoli F et al.

Cells, 2022

Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India.

More TA et al.

Annals of Hematology, 2020

Dietary fatty acids fine-tune Piezo1 mechanical response.

Romero LO et al.

Nature Communications, 2019

The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.

Flatt JF et al.

Frontiers in Physiology, 2018

Functional analyses of heteromeric human PIEZO1 Channels.

Gnanasambandam R et al.

Plos One, 2018

Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.

Glogowska E et al.

Blood, 2017

The Kinetics and the Permeation Properties of Piezo Channels.

Gnanasambandam R et al.

Current Topics in Membranes, 2017

Human PIEZO1 Ion Channel Functions as a Split Protein.

Bae C et al.

Plos One, 2016

Piezo proteins: regulators of mechanosensation and other cellular processes.

Bagriantsev SN et al.

The Journal of Biological Chemistry, 2014

The structure of a conserved piezo channel domain reveals a topologically distinct β sandwich fold.

Kamajaya A et al.

Structure (london, England : 1993), 2014

Hereditary xerocytosis and familial haemolysis due to mutation in the PIEZO1 gene: a simple diagnostic approach.

Sandberg MB et al.

International Journal of Laboratory Hematology, 2014

Human PIEZO1: removing inactivation.

Bae C et al.

Biophysical Journal, 2013

Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1.

Bae C et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.

Albuisson J et al.

Nature Communications, 2013

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.

Zarychanski R et al.

Blood, 2012

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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."