Functional mutation studyIn silico analysisInactivating mutations in the CDH1 (E-cadherin) gene are the predisposing cause of gastric cancer in most families with hereditary diffuse gastric cancer (HDGC). The lifetime risk of cancer in mutation positive members is more than 80% and prophylactic ...
CDH1基因介绍.docx,CDH1基因突变诊断研究进展 摘要: E-钙黏蛋白(cadherin)基因(CDH1基因)外显子突变是目前已知的、导致HDGC等多种肿瘤发病的最重要因素, 筛查其突变情况可以用于指导肿瘤的临床诊治,CDH1基因的其他改变, 如内含子突变、基因甲基化及单核苷酸多态性也可能
2A). Immunohistochemistry showed positive staining for cell CyclinD1, CD10, Caldesmon, and Vimentin in the tumor cells, with some tumor cells also demonstrating positive labeling for MyoD1, CKpan, and Myogenin (Fig. 2B, C, D). Tumor cells were negative for estrogen receptor, smooth muscle ...
A positive genetic test can be defined as one in which the mutation is clearly deleterious to E-cadherin function. This would include all truncating mutations, frameshifts and mutations in the 100% conserved splice donor and acceptor sites (AG/CT). However, for misssense mutations and mutations...
aMutation of the Chk1-mediated Cdh1 phosphorylation sites inhibits proliferation. HeLa cells were transfected with histone H2B-GFP and either vector or the indicated Cdh1 constructs. After 24 h, proliferation of the GFP-positive cells was analyzed over time.bMutation of the Chk1-mediated Cdh1 ...
from Jennifer Stow (Addgene plasmid 28009).27 Using the QuikChange XL directed-mutagenesis kit (Stratagene, La Jolla, CA), we generated mutant versions of the constructions intro- ducing the five CDH1 mutations identified and the HDGC- associated mutation p.(Asp244Gly) used as positive ...
A mutation in the MEN factor Tem1 suppresses bub2Δ-induced sister-chromatid segregation [28]. It suggests that precocious activation of the MEN causes mitotic slippage, but the molecular mechanism responsible is largely unknown. Although securin degradation and sister-chromatid separation are normally...
The staining was regarded as positive if the intensity on the membrane of the tumor cells was greater than or equal to plus 2 (on a semiquantitative scale of 0–3: 0 for no staining, 1+ for weak staining, 2+ for moderate staining, or 3+ for strong staining) and the percentage of ...
E-cadherin is the receptor for internalin, a bacterial surface protein essential for the entry of the gram-positive bacterium Listeria monocytogenes into epithelial cells. Loss of E-cadherin-dependent cell–cell adhesion has been detected in a human cancer cell line that expresses normal E-cadherin...
Five at-risk relatives underwent presymptomatic molecular testing after careful genetic counseling, and three were molecularly diagnosed as positive for the variant. Esophagogastroduodenoscopy was performed in these relatives revealing abnormal small pale mucosal patches, small ulcerative lesion and no ...