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The importance of XPA in NER is illuminated by evidence demonstrating that of all XP phenotypes, patients deficient in XPA are most severely affected, XPA-deficient mice show a complete deficiency in NER, and XPA-deficient cells are most sensitive to UV irradiation [ 8– 11].
No human repair-deficient disorders have been described so far suffering from a complete deficiency in BER, which may be taken to indicate that BER is essential for human development and survival.
Despite this, the animals could be maintained for 6 7 weeks without developing a complete deficiency phenotype, which is readily apparent within 3 weeks if ascorbate is completely withheld 28, 29.
The disease is an excellent candidate for gene replacement therapy as the majority of mutations have been shown to lead to a complete deficiency of the secreted protein in the retinal structures.
Studies over the last several decades have demonstrated that a complete deficiency in factors mediating antibacterial response results in severe mycobacterial infections [4] [6].
A complete deficiency of human prosaposin results in the storage of multiple GSLs and early lethality (11, 12).
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Similarly, a combined complete deficiency of ABCA1 and the ATP binding cassette transporter G-1 (ABCG1) had no significant effect on atherosclerotic lesion formation and was associated with hypocholesterolemia (Out et al, 2008).
Prolonged drinking that interferes with an adequate diet may lead to Wernicke disease, which results from an acute complete deficiency of thiamin (vitamin B1) and is marked by a clouding of consciousness and abnormal eye movements.
There was also a strong reduction of the steady state levels of individual respiratory chain subunits and an almost complete deficiency in subunit e (Su e) of the F1FO-ATP synthase.
Turner syndrome (TS) is a relatively common chromosomal disorder that is characterized by a partial or complete deficiency of the X chromosome [1].
Moreover, a markedly prolonged elimination half-life of 5-FU has been observed in a patient with complete deficiency of DPD enzyme activity (Diasio et al, 1988).
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