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1.
Genomics ; 116(3): 110809, 2024 05.
Article in English | MEDLINE | ID: mdl-38492821

ABSTRACT

Colorectal cancer (CRC) is the third most common cancer and the prevalence rate of CRC is increasing in the China. In this study, whole-exome sequencing (WES) was performed on primary tissues of 47 CRC Chinese patients including 22 metastatic and 25 non-metastatic patients. By comparison with data from western colorectal cancer patients in the Cancer Genome Atlas (TCGA), we identified a number of genes that are more likely to be mutated in Chinese colorectal cancer patients, such as MUC12, MUC12, MUC2, MUC4, HYDIN and KMT2C. Interestingly, MUC family genes including MUC12, MUC2 and MUC4, have mutation rates of >20%, while the mutation frequency was extremely low in western colorectal cancer patients, which were <3% in TCGA and 0% in Memorial Sloan Kettering Cancer Center (MSKCC). We detected metastasis-specific mutated genes including TCF7L2, MST1L, HRNR and SMAD4, while MUC4, NEB, FLG and RFPL4A alteration is more prevalent in the non-metastasis group. Further analysis reveals mutation genes in metastasis group are more focus in the Wnt and Hippo signaling pathway. APC, SMAD4 and TCF7L2 accounted for the major genetic abnormalities in this pathway. In conclusion, this study identified the unique characteristics of gene mutations in Chinese patients with colorectal cancer, and is a valuable reference for personalized treatment in Chinese CRC patients.


Subject(s)
Colorectal Neoplasms , Exome Sequencing , Mutation , Neoplasm Metastasis , Humans , Colorectal Neoplasms/genetics , Colorectal Neoplasms/pathology , Male , Female , Middle Aged , Aged , Adult , Hippo Signaling Pathway , Mucin-4/genetics , Mucin-4/metabolism , China , Mucin-2/genetics , Mucin-2/metabolism , Smad4 Protein/genetics , Smad4 Protein/metabolism , Filaggrin Proteins , Protein Serine-Threonine Kinases/genetics , Neoplasm Proteins/genetics , Neoplasm Proteins/metabolism , Wnt Signaling Pathway , Asian People/genetics , East Asian People , DNA-Binding Proteins
2.
Phys Chem Chem Phys ; 24(29): 17841-17851, 2022 Jul 27.
Article in English | MEDLINE | ID: mdl-35851594

ABSTRACT

Chemical gardens are self-assembled structures of mineral precipitates enabled by semi-permeable membranes. To explore the effects of gravity on the formation of chemical gardens, we have studied chemical gardens grown from cobalt chloride pellets and aqueous sodium silicate solution in a vertical Hele-Shaw cell. Through photography, we have observed and quantitatively analysed upward growing tubes and downward growing fingers. The latter were not seen in previous experimental studies involving similar physicochemical systems in 3-dimensional or horizontal confined geometry. To better understand the results, further studies of flow patterns, buoyancy forces, and growth dynamics under schlieren optics have been carried out, together with characterisation of the precipitates with scanning electron microscopy and X-ray diffractometry. In addition to an ascending flow and the resulting precipitation of tubular filaments, a previously not reported descending flow has been observed which, under some conditions, is accompanied by precipitation of solid fingering structures. We conclude that the physics of both the ascending and descending flows are shaped by buoyancy, together with osmosis and chemical reaction. The existence of the descending flow might highlight a limitation in current experimental methods for growing chemical gardens under gravity, where seeds are typically not suspended in the middle of the solution and are confined by the bottom of the vessel.

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