XXXX leads to @entity385 .

@entity5892 @entity4889 @entity5582 @entity71838 @entity715 @entity1211 @entity7989 @entity385
UNASSIGNED: Hereditary protein S (PS) deficiency is an independent risk factor for @entity1211 . However, the correlation between PS and arterial @entity715 , such as @entity5892 , is not clear. The present study focused on the molecular mechanisms underlying @entity385 caused by a PS gene mutation in one family. The activity of @entity5582 , protein  C and PS in the plasma of the proband was measured, and the genes encoding PS were amplified and sequenced. The cellular localization and expression of PS were analyzed in HEK  -293 cells. The proband was a 50  -year  -old male. Plasma PS activity of the proband was 38.9%, which was significantly decreased compared with normal levels. Sequencing analysis revealed a @entity7989 @entity71838 mutation on exon  12. This frameshift mutation converts Asp496 in the precursor PS into the termination codon. In addition, the @entity7989 mutation was correlated with low PS activity in the family. Functional tests revealed that the mutant protein aggregated in the cytoplasm and its secretion and expression decreased. In conclusion, protein S mutation appeared to be the primary cause of @entity715 in the family of the present study. However, the correlation between @entity4889 and @entity385 requires further investigation.
