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

British Journal of Haematology

Volumn 117, Issue 1, 2002, Pages 164-167

  Pecci, Alessandro ^a   Noris, Patrizia ^a   Invernizzi, Rosangela ^a   Savoia, Anna ^b   Seri, Marco ^c   Ghiggeri, Gian Marco ^c   Sartore, Saverio ^d   Gangarossa, Simone ^e   Bizzaro, Nicola ^f   Balduini, Carlo L ^a,g  

^a UNIVERSITY OF PAVIA   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d UNIVERSITY OF PADOVA   (Italy)

^e San Donà di Piave ^*  (Italy)

^f Ctro Regionale Specializzato P   (Italy)

^g FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

Fechtner syndrome; Macrothrombocytopenia; May Hegglin anomaly; MYH9 gene; Non muscle myosin

Indexed keywords

MYOSIN HEAVY CHAIN;

ARTICLE; BLOOD CELL; CELLULAR DISTRIBUTION; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOPLASM; DIAGNOSTIC PROCEDURE; GENE MUTATION; GENETIC CODE; GRANULOCYTE; HUMAN; IMMUNOCYTOCHEMISTRY; MAY HEGGLIN ANOMALY; PHENOTYPE; PRIORITY JOURNAL; THROMBOCYTE;

EID: 0036229482     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2002.03385.x     Document Type: Article

References (12)

1. Expression of non-muscle myosin isoforms in rabbit myometrium is estrogen-dependent
2. Sebastian platelet syndrome: A new variant of hereditary macrothrombocytopenia with leukocyte inclusions
3. Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome)
4. The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1
5. Differential localization of myosin-II isozymes in human cultured cells and blood cells
6. Inherited giant platelets disorders. Classification and literature review
7. Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): Clinical and laboratory findings
8. Fechtner syndrome - A variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia
9. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome
10. Myosins: A diverse superfamily
11. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes
12. Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13