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Article

Excessive mechanotransduction in sensory neurons causes joint contractures.

Science (New York, N.Y.) - 13 Jan 2023

Ma Shang, Dubin Adrienne E, Romero Luis O, Loud Meaghan, Salazar Alexandra, Chu Sarah, Klier Nikola, Masri Sameer, Zhang Yunxiao, Wang Yu, Chesler Alex T, Wilkinson Katherine A, Vásquez Valeria, Marshall Kara L, Patapoutian Ardem

Abstract excerpt

Distal arthrogryposis (DA) is a collection of rare disorders that are characterized by congenital joint contractures. Most DA mutations are in muscle- and joint-related genes, and the anatomical defects originate cell-autonomously within the musculoskeletal system. However, gain-of-function mutations in PIEZO2, a principal mechanosensor in somatosensation, cause DA subtype 5 (DA5) through unknown mechanisms. We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36634173
DOI: 10.1126/science.add3598
PMCID: PMC10163824

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Excessive mechanotransduction in sensory neurons causes joint contractures.PMID 36634173Read ↗

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Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.Semantic proximity Read ↗

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Beyond distal arthrogryposis: refining the phenotypic landscape of <i>PIEZO2</i> -related disordersSemantic proximity Read ↗

Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the LiteratureSemantic proximity Read ↗

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Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.Semantic proximity Read ↗

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