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Article

Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function.

The Journal of biological chemistry - 29 Nov 2002

Hu Aihua, Wang Fei, Sellers James R

Abstract excerpt

A family of autosomal-dominant diseases including May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, Alport syndrome, and Epstein syndrome are commonly characterized by giant platelets and thrombocytopenia. In addition, there may be leukocyte inclusions, deafness, cataracts, and nephritis, depending on the syndrome. Mutations in the human nonmuscle myosin IIA heavy chain gene (MYH9) have been linked to...

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Identifiers

PMID: 12237319
DOI: 10.1074/jbc.M208506200

Genes

MYH9

Variants

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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.

Related research

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Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function.PMID 12237319Read ↗

MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.Semantic proximity Read ↗

Disease-associated mutations and alternative splicing alter the enzymatic and motile activity of nonmuscle myosins II-B and II-C.Semantic proximity Read ↗

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.Semantic proximity Read ↗

Linking the Landscape of MYH9-Related Diseases to the Molecular Mechanisms that Control Non-Muscle Myosin II-A Function in Cells.Semantic proximity Read ↗

Advances in the understanding of MYH9 disorders.Semantic proximity Read ↗

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.Semantic proximity Read ↗

Research progress of myosin heavy chain genes in human genetic diseases.Semantic proximity Read ↗

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.Semantic proximity Read ↗

Clinical manifestation and molecular genetic characterization of MYH9 disorders.Semantic proximity Read ↗

MYH9 mutations differentially stabilize non-muscle myosin II filaments and induce distinct cellular aggregation phenotypes.Semantic proximity Read ↗

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.Semantic proximity Read ↗

Hereditary myosin myopathies.Semantic proximity Read ↗

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