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These observations suggested that deficiency in function of the newly identified BH4-dependent enzyme AGMO might explain the hypersensitivity and cuticle fragility phenotypes of cat-4 and ptps-1 mutants.
This is highly relevant since a number of genetic disorders characterized by genomic instability and/or sensitivity to agents that impose DNA damage or replication stress are attributed to deficiency in function of a gene that encodes a protein that may affect the formation or stability of G-quadruplexes.
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But that assumption is based on testing kidney function by measuring serum creatinine levels, a measure too crude to pick up subtle deficiencies in function.
The TRAF6-RelB deficient mice provide striking examples of how an apparent immune deficiency – in NFκB function – can also cause autoimmunity.
We previously reported that reduction of TR1 levels in cancer cells reversed many malignant characteristics suggesting that deficiency in TR1 function is antitumorigenic.
This is a categorization reflects the fact that low MMR protein expression levels (<10%) are required for a deficiency in MMR function [28].
Further investigations are needed to detail the mechanism underlying the reversal in putrescine-induced deficiency in DC function.
For many years, researchers have been struggling to identify the mechanism that causes the deficiency in PTEN function.
A deficiency in peroxisomal function has been suggested to cause oxidative stress (Baumgart et al., 2001; Bonekamp et al., 2009).
Second and more importantly, it raises the rationale for targeting cancer subtypes with a deficiency in HR function [1].
Interestingly, we showed in the present study that in vitro treatment of DCs with ATRA could reverse the putrescine-induced deficiency in DC function.
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