检索文献和HGMD数据库(The Human Gene Mutation Database),本研究中检出的5种F10基因突变中,错义突变c.706G>A、c.1271T>C、c.G400A、c.G262A及无义突变c.1152C>A均为新突变。 5. 治疗:11例患者中,4例输注凝血酶原复合物浓缩物(PCC)治疗,7例输注新鲜冰冻血浆(FFP),患者多于PCC无法获得时选择FFP...
ConclusionsIn this pedigree, the heterozygous mutation in exon 8 of F10 gene (c.902_919del, p.Ala301_Glu306del) caused the hereditary factor Ⅹ deficiency. KEYWORDS: Coagulation factor X deficiency;Gene mutation;Factor Ⅹ;Protein model Corresponding author: Wang Gang, Email: nc.ude.umxsgnaw....
１ 病例资料 第一次住院：患儿，男，１月，因“发现面色苍白伴头皮包块２天”入院。病程中患儿无发热，无呕吐腹泻，无抽搐。既往史：出生后第１天因“新生儿缺血缺氧性脑病”住院；生后２０天因“颅内出血、凝血功能异常”住院。家族史：患儿父母非近亲结婚，否认家族中有类似疾病史。入院查体：Ｔ３７ ０℃，...
To determine the selective advantage of these mutations, reverse genetics was used to rescue viruses containing each of the NS1 mouse adapted mutations into viruses possessing the HK-wt NS1 gene on the A/PR/8/34 genetic backbone. Both F103L and M106I NS1
基因名: SF3B1 别名: Hsh155,MDS,PRP10,PRPF10,SAP155,SF3b155 基因ID: 23451 Chromosome:(GRCh37) 2 Start: 198254508 End: 198299815 Strand: -1 信号通路: 基因组不稳定 靶向药: Spliceostatin A 化疗药: SF3B1 基因突变与药物 MUTATION K666N K700E关于...
We also tested each the 103L and M106I mutations in the H3N2 NS1 gene where the M106I mutation did not affect binding to RIG-I domains but the F103L mutation eliminated binding to helicase and RD, which were the same binding patterns as seen for the H5N1 NS1 genes with these amino acid...
The effect of Sox10 knockdown by the specific siRNA on the expression level of each target gene is expressed relative to that of the control siRNA after normalization with GAPDH expression level. Values represent the average of three independent real-time PCR experiments each ...
eight genes were enriched in which SRSF10 scored as a top 1 candidate gene in HCC (Fig.4e). To further confirm the regulation of two microRNAs on both TXNDC5 and SRSF10, the sequences of 3’-UTR and the mutations of predicted binding sites were cloned into the luciferase reporter (Fig...
beta globin gene varianthigh performance liquid chromatographyTo determine whether specific c-Mpl mutations might respond to thrombopoietin receptor agonists.Materials and MethodsWe created cell line models of type II c-Mpl mutations identified in congenital amegakaryocytic thrombocytopenia. We selected F104S...
To investigate whether the decrease in tyrosinase activity is due to the decrease in the gene expression of tyrosinase, the protein levels of tyrosinase, TRP-1, TRP-2, and MITF were examined by western blotting (Fig. 3B). The expression levels of tyrosinase and TRP-2 involved in the melanin...