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In this panel, genes and pathways previously reported as altered by expression or copy number variations (CNV), known targets of sequence mutations in ALL, genes commonly mutated in other cancers, and ALL nonrelated genes involved in key signaling pathways were studied [ 16– 16].
This trial design is in response to the recent appreciation that certain driver mutations which may be common in a particular tumor type are mutated in other diseases at low frequency (< 10%).
The other frequently mutated genes, such as SYNE1, MUC16, etc. have been found to be mutated in other cancer types and may be novel candidate driver mutations in early stage of CRC tumorigenesis [ 20, 21].
Although the somatic mutation landscape of MBC is relatively unknown, the panel also includes genes commonly mutated in other cancers to test against.
GUCY2D was the gene most frequently mutated in Chinese patients while the genes found to be most frequently mutated in other populations were RPGRIP1 in people from northern Pakistan [32], CRB1 in the Spanish [28], and CEP290 in Caucasians [15].
In S. cerevisiae, a recent screen identified the strain vps25▵ as well as strains mutated in other members of the ESCRT-II and ESCRT-III complexes as sensitive to copper overload, confirming a role for Vps25 and the ESCRT machinery in copper homeostasis [29].
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Although this gene was not mutated in any other population, a mutation that might affect regulation of glpD was found in three isolates of IR-3-20.
Although α6 β4 integrin signals stimulate NFAT activity in breast cancer (Jauliac et al, 2002), we now identify that NFAT is activated by oncogenic BRAF signalling, which is the most frequently mutated gene in melanoma and a gene frequently mutated in many other cancers.
In the present study, we explored the kinome searching a panel of 36 primary PETs and 3 PET cell lines for mutations in 35 kinase genes including: 25 genes frequently mutated in human cancers other than pancreatic [ 18– 21], 6 genes related to the Akt-mTOR pathway that has been shown to be activated in PET [ 17], and 4 genes encoding for RTKs targeted by available anticancer drugs.
The past few years have seen an unprecedented deluge of data on the genes mutated in cancer and other diseases.
Although CIN is one of the most frequently recognised phenomenon in gastric cancer (Abad et al, 1998; Esteban et al, 1999; Russo et al, 2000), the mitotic checkpoint genes hsMAD2 and hBUB1 are rarely mutated in gastric and other types of human malignancy (Imai et al, 1999; Tanaka et al, 2001).
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