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Open image in new window Figure 2 Correcting HBB −28 (A>G) mutation in primary skin fibroblast cells of beta thalassemia patient.
Thus, correlation of KRAS mutation in primary tumours, metastases and plasma during metastatic colorectal therapies still needs to be studied.
To address this issue, we investigated the activating BRAFV600E mutation in primary cell cultures generated from initial metastatic lesions surgically removed from 15 cutaneous melanoma patients, and in 19 subsequent metastases (Table 1).
From these data we conclude that the occurrence of CDKN2 (p16/mutationtatinn in primary breast cancer is a rare event and is not likely to be involved in human breast tumour carcinogenesis and progression.
In fact, the percentage of cases showing IDH1 mutation in primary Gbs described by Yan and collaborators (6%) was similar to the percentage of GHE cases detected by ColSBE in Gravendeel's data set, which displayed both IDH1 mutation and non-amplification of EGFR (6.5%).
The highest frequencies of BRAF V600E mutation in primary CNS neoplasms have been reported in PXA (up to 60-65%) [ 8, 9, 14, 22], a WHO grade II tumor [ 23], with 30% recurrence and 80% overall survival rates at five years following primary resection.
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All these mutations in primary fibroblasts or derived iPSCs were verified by DNA sequencing.
For example, Gerlinger et al. found that over half the mutations in primary tumor and its various metastases of the same advanced renal cell carcinoma are different [166].
By sequencing the exons of the three hiPSC-ASPM cell clones, we identified a heterozygous mutation at 9,910 C→T ln exon 25 that introduced a premature stop codon and a homozygous mutation at 7,684 A→G in exon 18 that produced a S2562G missense mutation, which is consistent with previously reported Aspm mutations in primary microcephaly patients (Bond et al., 2003) (Fig. S3B).
Sequencing for murine HD and PEST mutations in primary mouse tumors samples was performed as described [51].
The study identified the timing of different types of in vivo Gag mutations in primary HIV-1 subtype C infection in relation to the estimated time of seroconversion.
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