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Mutations can either arise independently or they can be passed on from an ancestor.
Mutations can either affect the leptin receptor (b), the production and secretion of leptin (c), or the interaction of leptin with its receptor (d).
Interestingly, electrophysiological studies showed that Nav1.2 mutations can either be loss-of-function (R1319Q and L1330F) or gain-of-function (M252V, V261M, L1563V, and Y1579C) (Misra et al., 2008; Liao et al., 2010; Lauxmann et al., 2013).
More recently, Schaub and colleagues disputed this result using colony formation assays to show that TET2 mutations can either precede (4 of 8 patients), follow (2 of 8), or occur independently (2 of 8) of JAK2 V617F mutations in MPN patient samples (Schaub et al., 2010).
Adverse mutations can either destabilise the structure or disrupt a functional site, such as ligand binding, catalytic or protein protein interaction sites.
LRRK2 displays GTPase and kinase activity in vitro and PD-associated mutations can either enhance kinase activity (G2019S) or impair GTP hydrolysis activity (R1441C/G/H, Y1699C) (6– 14).
Similar(53)
In this setup, an additional mutation can either worsen or improve female viability depending on whether the gene acts, respectively, positively or negatively in the process (female viability is affected as SXL turns off the dosage compensation system which hypertranscribes the X chromosomes by default).
Those changes are caused by mutations which can either be point mutations or frame shift mutations.
In addition, it is noteworthy that Nav1.1 mutations can be either loss-of-function or gain-of-function (Catterall et al., 2010; Escayg and Goldin, 2010).
Mutations can influence either or both states.
Shared derived mutations can occur either by recurrent mutation to the same site or by shared ancestry (Clark 1997).
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