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SCN5a mutations have now been found in other sudden-death syndromes, including sudden infant death, or SIDS.
Specifically, mutations have now been reported in HDAC2 (colon), HDAC4 (breast), and HDAC9 (prostate) (Berger et al., 2011; Ropero et al., 2006; Sjoblom et al., 2006).
In addition to MDS, sAML, and MPNs, TET2 mutations have now been described in other myeloid neoplasms, such as de novo AML (12%) and chronic myelomonocytic leukemia (CMML; 42%–46%) (Abdel-Wahab et al., 2009; Smith et al., 2010).
Pathogenic mutations have now been identified in 10 of the 38 nuclear DNA (nDNA) subunits of human complex I [9], including all 7 nDNA-encoded core subunits and 3 supernumerary subunits, as well as in 3 complex I assembly factors (Table 1).
Since the first discovery, many IIP families with surfactant mutations have now been described.
Such mutations have now been found in 25% of metaplastic breast cancers [ 106].
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This naming of mutations has now become widely accepted.
The debate over loss or gain of function that has revolved around these mutations has now been quashed with the use of mouse models.
It is recognized that nonsense and frame-shift mutations of ASXL1 are adversely prognostic, and the presence of these mutations has now been incorporated in two distinct CMML prognostic models.
Thirty-five or so American children with that mutation have now been weaned off insulin, according to the Chicago medical center, which has been involved in many of the cases.
Efforts to target the BRAFV600E mutation have now led to the development of a highly selective BRAF inhibitor that has shown tremendous promise in early clinical trials.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com