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Recently, the team of Professor Liangxue Zhou of Neurosurgery of our hospital cooperated with the team of Professor Yong Peng from the State Key Laboratory of Biological Therapy and the team of Professor Xiaofeng Zhu from the School of Life Sciences of Sichuan University.
They published an online publication titled "Characterization of novel CTNNB1 mutation" in the famous journal Molecular Cancer (IF=27.
4).
in Craniopharyngioma by whole-genome sequencing" research paper
.
The study performed whole-genome sequencing analysis on 26 cases of craniopharyngiomas (including 16 cases of enamel craniopharyngiomas and 10 cases of squamous papillary craniopharyngiomas) and their corresponding blood samples.
Craniopharyngioma is a rare benign tumor that tends to occur in the intracranial saddle area and supra saddle
.
Although it is a benign tumor histologically, the clinical disease process often shows progressive deterioration, and it is still considered as a refractory intracranial tumor
The study performed whole-genome sequencing on 26 pairs of craniopharyngiomas samples, with an average sequencing depth of 29.
51× (tumor) and 29.
75× (blood).
A total of 20,772 individual cell mutations were detected.
The median of SNV and InDels was 760, respectively.
And 39, the average mutation load of SNV and InDels were 0.
246 bp/M and 0.
013 bp/M, respectively, which accorded with the gene mutation characteristics of benign tumors
.
The study found that CTNNB1 (68.
Doctoral students He Juan, Zeng Zhen, and assistant researcher Wang Yuelong are the co-first authors of the article.
Professor Zhou Liangxue of Neurosurgery, West China Hospital of Sichuan University, Professor Peng Yong of West China Biotherapy State Key Laboratory of Sichuan University, and Professor Zhu Xiaofeng of the School of Life Sciences of Sichuan University are the joint communications Author
.
Original link: https://molecular-cancer.