Document Detail

Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders.
MedLine Citation:
PMID:  11918549     Owner:  NLM     Status:  MEDLINE    
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 showed an altered localization of NMMHC-A in granulocytes and platelets, suggesting that Döhle-like bodies are due to the aggregation of NMMHC-A in the cytoplasm. Therefore, immunocytochemistry for NMMHC-A is a simple and sensitive method to detect pathological phenotypes of granulocytes and platelets in the diagnosis of MYH9-related disorders.
Alessandro Pecci; Patrizia Noris; Rosangela Invernizzi; Anna Savoia; Marco Seri; Gian Marco Ghiggeri; Saverio Sartore; Simone Gangarossa; Nicola Bizzaro; Carlo L Balduini
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  British journal of haematology     Volume:  117     ISSN:  0007-1048     ISO Abbreviation:  Br. J. Haematol.     Publication Date:  2002 Apr 
Date Detail:
Created Date:  2002-03-28     Completed Date:  2002-05-31     Revised Date:  2012-02-22    
Medline Journal Info:
Nlm Unique ID:  0372544     Medline TA:  Br J Haematol     Country:  England    
Other Details:
Languages:  eng     Pagination:  164-7     Citation Subset:  IM    
Department of Internal Medicine, IRCCS San Matteo, University of Pavia, Italy.
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MeSH Terms
Blood Platelets / chemistry*
Case-Control Studies
Immunohistochemistry / methods
Leukocytes / chemistry*
Molecular Motor Proteins*
Myosin Heavy Chains / analysis*,  genetics
Nonmuscle Myosin Type IIA / analysis*
Thrombocytopenia / diagnosis*,  genetics
Grant Support
GP0019Y01//Telethon; TGM06S01//Telethon
Reg. No./Substance:
0/MYH9 protein, human; 0/Molecular Motor Proteins; 0/Myosin Heavy Chains; EC 3.6.1.-/Nonmuscle Myosin Type IIA

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