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Article

Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains.

Genomics - 1 Jun 2004

Marigo Valeria, Nigro Alessandra, Pecci Alessandro, Montanaro Donatella, Di Stazio Mariateresa, Balduini Carlo L, Savoia Anna

Abstract excerpt

Nonmuscle myosin heavy chain II-A is responsible for MYH9-related disease, which is characterized by macrothrombocytopenia, granulocyte inclusions, deafness, cataracts, and renal failure. Since another two highly conserved nonmuscle myosins, II-B and II-C, are known, an analysis of their tissue distribution is fundamental for the understanding of their biological roles. In mouse, we found that all forms are...

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Source

Identifiers

PMID: 15177565
DOI: 10.1016/j.ygeno.2003.12.012

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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Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains.PMID 15177565Read ↗

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

Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease.Semantic proximity Read ↗

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

Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO miceSemantic proximity Read ↗

Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A.Semantic proximity Read ↗

Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.Semantic proximity Read ↗

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.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 ↗

The role of vertebrate nonmuscle Myosin II in development and human diseaseSemantic proximity Read ↗

Renal manifestations of patients with MYH9-related disorders.Semantic proximity Read ↗

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