نتایج جستجو برای: cdh1 mutations
تعداد نتایج: 174065 فیلتر نتایج به سال:
Hereditary diffuse gastric cancer (HDGC) is the only known predisposition syndrome dominated by carcinoma of the stomach and with a recognised genetic cause. Germline mutations in the E-cadherin gene (CDH1) co-segregate with the disease in about half of the families with multiple diffuse gastric cancer. In these families, identification of the CDH1 mutation allows for clinical measures to be ta...
Aim: to reveal hereditary mutations in patients with adenomatous polyps of the gastrointestinal tract. Patients and methods: a retrospective cohort study included 8 tract (ranging from 4 several hundred). The APC, AXIN2, BMPR1A, BRCA2, CDH1, CHEK2, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MutYH, NTHL1, PMS2, POLD1, POLE, SMAD4, STK11 genes were studied using new generation sequencin...
NF-κB is dually involved in neurogenesis and brain pathology. Here, we addressed its role in adult axoneogenesis by generating mutations of RelA (p65) and p50 (also known as NFKB1) heterodimers of canonical NF-κB. In addition to RelA activation in astrocytes, optic nerve axonotmesis caused a hitherto unrecognized induction of RelA in growth-inhibitory oligodendrocytes. Intraretinally, RelA was ...
BACKGROUND We investigated whether an endogastric capsule (EC) may be a valuable tool for collecting DNA from exfoliated cells from the gastric mucosa and for carrying out an analysis of promoter methylation status of the E-cadherin (CDH1) gene in poorly differentiated, diffuse gastric cancer (DGC). MATERIAL AND METHODS Consecutive patients with a confirmed diagnosis of poorly differentiated ...
Mutations in the CDH1 gene, which encodes the cell adhesion molecule E-cadherin, are associated with hereditary diffuse gastric cancer in humans. Although most of the CDH1 mutations found are truncating, leading to non-functional E-cadherin, some are missense. These missense E-cadherin mutants result in full-length proteins which, when assayed in cell culture, still retain some biological activ...
INTRODUCTION Gene panel testing for breast cancer susceptibility has become relatively cheap and accessible. However, the breast cancer risks associated with mutations in many genes included in these panels are unknown. METHODS We performed custom-designed targeted sequencing covering the coding exons of 17 known and putative breast cancer susceptibility genes in 660 non-BRCA1/2 women with fa...
Analysis of activator-binding sites on the APC/C supports a cooperative substrate-binding mechanism.
The anaphase-promoting complex or cyclosome (APC/C) is a ubiquitin ligase essential for the completion of mitosis in all eukaryotic cells. Substrates are recruited to the APC/C by activator proteins (Cdc20 or Cdh1), but it is not known where substrates are bound during catalysis. We explored this problem by analyzing mutations in the tetratricopeptide-repeat-containing APC/C subunits. We identi...
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