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Analyzing the clinical results, Allen and Bozic were able to mathematically describe the exponential growth of the cancer and determine whether the mutation that led to drug resistance was pre-existing, or whether it occurred after treatment began.
In many ways, it's an exercise in post-hoc hypothesizing: what would have been the advantage, when the human species first evolved, for an individual who happened to have a mutation that led to, say, a smaller jaw, a bigger forehead, a better thumb?
Meanwhile, all control samples had few PGCs with abnormal nuclei (Figure 4B), underscoring that it was the Separase point mutation that led to the genome instability of female PGCs, as in male PGCs.
One NIP candidate represented a frame shift mutation that led to an incorrectly annotated splice site (FBgn0038858).
In silico analysis of the discovered new frameshift stop gained mutation revealed that it is a pathogenic mutation that led to nonfunctional sclerostin protein.
One of these SNPs, detected in 10th exon, introduced a premature stop codon mutation that led to a truncated 521-aa GI protein in the GmGIa-Mi allele.
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That happens even in people with the genetic mutation that leads Alzheimer's in middle age.
A mutation that leads to relapse in many leukemia patients also causes a weakness that could be exploited to kill the cancer cells, Columbia researchers have reported.
There are many types of EB Simplex and most are caused by an autosomal dominant gene mutation that leads to a defective keratin protein.
The disease appears to result from a genetic mutation that leads to the overproduction of fibrous tissue.
EDIT-101 is designed to correct a point mutation in the CEP290 gene, the IVS26 mutation, that leads to incorrect splicing of the CPE290 transcript and a dysfunctional CEP290 protein.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com