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The study of genetically engineered animals with targeted deletion or gain of function mutations has highlighted the important role that many of the complement inhibitors play in vivo.
The identification of surfactant protein mutations has revealed a role for ER stress in this disease, and the identification of telomerase mutations has highlighted a potential role for aging-associated pathways and senescence that were not previously linked with in IPF.
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These studies of AP2S1 mutations have highlighted a role for the AP2 endocytic complex in Ca2+o homeostasis.
Although CRISPr was initially thought to be primarily useful for generating germline mutations [ 50,51], more recent work has highlighted its capacity for inducing somatic, biallelic disruptions in the F0 injected fish [ 52].
Recent work has highlighted the significance of mutations in TP53, FOXO1 ref. 31 ) and MYD88(ref. 53 ) with inferior DLBCL outcomes.
Recent whole-exome analysis has highlighted the significance of somatic mutation of the ARID1A gene in gastric carcinomas (8, 9).
Next-generation sequencing has highlighted the crucial contribution of de novo mutations to the genetic architecture of EEs as well as to their underlying genetic heterogeneity.
Whether or not cancer stem cells actually exist, the search for them has highlighted at least one useful insight, involving a mutation in a gene that plays a key role in prompting stem cells to mature.
The high prevalence of genetic diseases resulting from gross deletions has highlighted a need for a quick, simple, and reliable method of genotyping these mutations.
A recent study has highlighted the possible association of CCM with meningiomas in a large cohort of familial CCM harboring PDCD10 mutations [ 12].
Recent reports of the EML4 (echinoderm microtubule-associated protein like 4 ALK oncoprotein in NSCLC (non-small cell lung cancer), together with the identification of activating point mutations in neuroblastoma, have highlighted ALK as a significant player and target for drug development in cancer.
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