Evidence map›Paper›PMID 41717081›Full record

ArticleBiochemistry and biophysics reports2026

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

Joshua Pillai, Adhvaith Sridhar, Kijung Sung, Linda Shi, Chengbiao Wu

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Biochemistry and biophysics reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Joshua PillaiSchool of Biological Sciences, University of California, La Jolla, San Diego, CA, USA.
Adhvaith SridharDepartment of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota Twin Cities, Minneapolis, MN, USA.
Kijung SungDepartment of Neurosciences, University of California San Diego, School of Medicine, La Jolla, CA, USA.
Linda ShiBiophotonics Technology Center, Institute of Engineering in Medicine, University of California, La Jolla, San Diego, CA, USA.
Chengbiao WuDepartment of Neurosciences, University of California San Diego, School of Medicine, La Jolla, CA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic missense mutations are commonly found in protein-coding regions of DNA, and often alter protein function. In the past decade, enormous experimental efforts have been undertaken through the development of functional assays, mutagenesis screenings, and computational prediction algorithms to characterize these variants. Indeed, most efforts have been focused towards identifying degrees of loss-of-function (LoF) effects on the three-dimensional structures of proteins, but gain-of-function (GoF) mutations remain poorly understood. Herein, we performed a case study of the PIEZO1 mechanosensitive ion channel protein whose GoF variants (

Indexed as

AlphaMissenseCongenital lymphatic dysplasiaGain-of-Function mutationsHereditary xerocytosisMechanosensitive cation channelPiezo1

Identifiers

PMID41717081
PMCPMC12914247

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.