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Article

Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders.

British journal of haematology - 1 Apr 2002

Pecci Alessandro, Noris Patrizia, Invernizzi Rosangela, Savoia Anna, Seri Marco, Ghiggeri Gian Marco, Sartore Saverio, Gangarossa Simone, Bizzaro Nicola, Balduini Carlo L

Abstract excerpt

May-Hegglin anomaly (MHA), Sebastian syndrome (SBS) and Fechtner syndrome (FTNS) are autosomal-dominant macrothrombocytopenias with Döhle-like leucocyte inclusions. These diseases are due to mutations of the MHY9 gene, encoding the heavy chain of non-muscle myosin IIA (NMMHC-A). We investigated the NMMHC-A localization in blood cells from eight MHA, SBS or FTNS patients with known MYH9 mutations. All the patients...

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Source

Identifiers

PMID: 11918549
DOI: 10.1046/j.1365-2141.2002.03385.x

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders.PMID 11918549Read ↗

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

Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders.Semantic proximity Read ↗

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Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.Semantic proximity Read ↗

A unique immunofluorescence method promotes accurate diagnosis in MYH9 disorders: a case report.Semantic proximity Read ↗

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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 ↗

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 ↗

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