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1.
JOURNAL OF RARE DISEASES ; (4): 131-135, 2024.
Artigo em Inglês | WPRIM | ID: wpr-1006910

RESUMO

Non-muscle myosin heavy chain 9-related disease (MYH9-RD) is an autosomal dominant disease caused by the mutations of the MYH9 gene encoding the non-muscle mysoin heavy chain ⅡA and leads to abnormal accumulation of myosin in cells. These further causes functional disorders of the blood, eye, ear, kidney, and liver systems. MYH9-RD displays heterogeneous kidney involvement and outcomes, but doctors still lack understandings of the mechanism and treatment strategies, owing to difficulty of conducting renal biopsies. Here, we report a case of MYH9-RD with tail fragments heterozygous mutation, which renal pathology is presented as glomerular minor lesion. Moreover, we reviewed related relevant to strengthen clinical diagnosis and understanding of MYH9-RD.

2.
International Journal of Laboratory Medicine ; (12): 1281-1285, 2018.
Artigo em Chinês | WPRIM | ID: wpr-692831

RESUMO

Objective Non-muscle myosin heavy chain ⅡA (NMHC ⅡA ) plays a significant role in tumor progression and metastasis .Our prior study showed that the expression of NMHC ⅡA was much higher in human bladder cancer sample than that in adjacent tissue .The increased level of NM HC ⅡA expression was correlated with worse prognosis .However ,the role of NMHC ⅡA is unknown in the invasion and metastasis of bladder cancer .Methods RT-PCR and western blotting were used to examine NMHC ⅡA expression lev-els in normal bladder epithelial cells and bladder cancer cell lines .T he migration and invasion ability of cells was tested by wound healing assay and Transwell invasion assay ,respectively .Results Our study showed that knockdown of NMHC ⅡA inhibited migration and invasion in bladder cancer cell line .Conclusion The study indicated that NM HC ⅡA expression increased the invasion and metastasis ability of bladder cancer cell line in vitro .

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