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In CGD there is a gross defect of components of the NADPH oxidase that is responsible for the respiratory burst in neutrophils.
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Overall good agreement between the proposed method and the FE results provides confidence in the use of the proposed method for defect assessment of components at elevated temperatures.
Thus, the methodology ensures the detection and the localization of a defect of a component by the optimization of the position of a limited number of sensors.
It must be able to account for a large range of surface defects and of component sizes and geometries (wings, brackets, frames, etc).
Inactivation of desmosomal function may be reduced by completely different mechanisms including genetic defects of desmosomal components, cleavage of desmosomal cadherins by bacterial toxins and binding of autoantibodies to desmogleins 1, the latter of which is the cause of the autoimmune disease pemphigus.
Central regulators of myelopoiesis and key players in leukemogenesis seem to be the polycomb regulatory complexes, especially PRC2, which, in addition to direct defects of its components (EED, EZH2, SUZ12), could be affected in its concerted action with several ERs, such as ASXL1, cohesins, DNMT3A, IDH1/2, MLL, TET2 and UTX.
For instance, in CdS deposition on nanotube structures like TiO2 NTAs [2], the inhomogeneity and discontinuity of the material amount along the depth of the tubes [36] have often appeared, while the sensitivity of the deposition condition may also lead to unwilled island formation and defects [37], overabundance of components, and possible etching effect on the TiO2 NTA substrate [38, 39].
Marked susceptibility to meningococcal disease is seen in individuals with rare complement defects (especially loss of components of the terminal pathway, which is necessary for bacteriolysis and not opsonphagocytosis), those receiving C5 inhibitors (i.e. eculizumab), and inherited defects of the AP (i.e. properdin and factor D deficiencies).
Within a gene, deleterious mutations can be rectified or compensated by other mutations; within a complex or a network, defects of a component may be compensated by changes on other components.
Although an ultrasonic wave has the capability to detect defects, the type classification of defects and material characterization of components continue to be challenging tasks.
The incomplete fusion of the pleuroperitoneal fold is based on the embryonal defect of the muscular component of the diaphragm and not an erroneous embryonal migration of the myocytes which would indicate a dysregulation of myogenesis per se which is often reported [ 30, 33].
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