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Article

Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly.

Blood - 1 Jan 2005

Franke Josef D, Dong Fan, Rickoll Wayne L, Kelley Michael J, Kiehart Daniel P

Abstract excerpt

MYH9-related disorders are autosomal dominant syndromes, variably affecting platelet formation, hearing, and kidney function, and result from mutations in the human nonmuscle myosin-IIA heavy chain gene. To understand the mechanisms by which mutations in the rod region disrupt nonmuscle myosin-IIA function, we examined the in vitro behavior of 4 common mutant forms of the rod (R1165C, D1424N, E1841K, and...

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Source

Identifiers

PMID: 15339844
DOI: 10.1182/blood-2004-06-2067

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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