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Some Mexican cavefish have a mutation in an insulin receptor protein that affects blood-glucose regulation.
These disorders show a strong family history, unless the condition arose from a new spontaneous mutation in an individual.
Higuchi, M. et al. Point mutation in an AMPA receptor gene rescues lethality in mice deficient in the RNA-editing enzyme ADAR2.
For example, researchers (including some of my former and current colleagues) have identified a mutation in an epigenetic regulator protein called EZH2 in some types of lymphoma.
We used the ICR strain of mice, which do not produce melatonin because of a mutation in an enzyme required for melatonin synthesis29.
Further, we identify a point mutation in an intron adjacent to one alternate splice site that disrupts alternative splicing at all three sites.
In this study, we investigated the efficiency of suppression therapy agents to suppress the Idua-W392X nonsense mutation in an MPS I-H mouse model.
To our knowledge, the present work is the first showing such a lethality in any gene after a point mutation in an enzyme catalytic site.
Engineering the mutation into a pre-epidemic ZIKV strain debilitates the virus for interferon-β induction; reversing the mutation in an epidemic ZIKV strain invigorates the virus for interferon-β induction; these mutational effects are lost in IRF3-knockout cells.
One BUB1B mutation in an aneuploid colorectal cancer was a somatic deletion that was predicted to remove part of the protein's kinase domain analogous to the truncating mutations now found in individuals with MVA.
Intravenous delivery of an adenine base editor and a single-guide RNA for the Fah gene can correct an A>G splice-site mutation in an adult mouse model of tyrosinaemia.
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