Immunocytochemistry for the heavy chain of the non‐muscle myosin IIA as a diagnostic tool for MYH9‐related disorders
Immunocytochemistry for the heavy chain of the non‐muscle myosin IIA as a diagnostic tool for MYH9‐related disorders
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非肌肉肌球蛋白 IIA 重链的免疫细胞化学作为 MYH9 相关疾病的诊断工具
DOI：
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发表时间：
2002
影响因子：
6.5
通讯作者：
C. Balduini
中科院分区：
文献类型：
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作者：
A. Pecci;P. Noris;R. Invernizzi;A. Savoia;M. Seri;G. Ghiggeri;S. Sartore;S. Gangarossa;N. Bizzaro;C. Balduini
总结。May-Hegglin异常（MHA）、Sebastian综合征（SBS）和Fechtner综合征（FTNS）是常染色体显性巨血小板减少症，伴Döhle样白细胞内含物。这些疾病是由编码非肌球蛋白IIA （NMMHC - A）重链的MHY9基因突变引起的。我们研究了8例已知MYH9突变的MHA、SBS或FTNS患者的血细胞中NMMHC‐A的定位。所有患者均显示NMMHC - A在粒细胞和血小板中的定位发生改变，这表明Döhle样体是由于NMMHC - A在细胞质中的聚集。因此，免疫细胞化学检测NMMHC‐A是诊断MYH9相关疾病时检测粒细胞和血小板病理表型的一种简单、灵敏的方法。
Summary. 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.
肌球蛋白-II 同工酶在人类培养细胞和血细胞中的差异定位。
影响因子：
4
作者：
Maupin,P;Phillips,CL;Adelstein,RS;Pollard,TD
通讯作者：
Pollard,TD