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A majority of the nonsynonymous SNPs (nsSNPs) associated with human disorders are caused by alteration in structural stability [ 5, 6] or based on attractive notion that these mutations directly disrupt the ligand interactions sites [ 7– 9].
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Functional diseases (eg those 'exciting' the eye by sympathetic irritation) expressed their symptoms through altered physiology rather than by alterations in structure, whereas structural (eg sensorial) diseases demonstrated clear structural changes.
Fabry disease is a treatable X-linked lysosomal storage disorder caused by alterations in the structural gene (GLA) of α-galactosidase A (AGAL), manifesting with cardiovascular and/or kidney disease and decreased life span.
The alcoholic crude root-peel extract of Flemingia vestita and its major isoflavone, genistein, have been shown to have a vermifugal/vermicidal effect by causing a flaccid paralysis accompanied by alterations in the structural architecture of the tegumental interface and metabolic activity in Raillietina echinobothrida, the cestode of domestic fowl.
This age-associated loss in proteasomal activity is accompanied by alteration in the levels of catalytic, structural and regulatory subunits, with no change in that of the11S activator or the inhibitor PAAF1.
It is accompanied by substantial biochemical changes including cell cycle exit [ 36], changes in metabolism [ 37, 38] and alteration in structural proteins [ 39, 40].
Similarly, PEEP by itself did not produce alterations in structural or molecular properties.
Detecting particular proteins in a clinical setting, says Barsky, is relatively routine; if the structural changes are caused by alterations in a protein, detecting that protein would be cheaper and easier than using atomic-force microscopy.
This study shows that structural bone changes assessed with HR-pQCT are accompanied by alterations in systemic markers of bone resorption and bone formation.
An alteration in the structural arrangement of blood vessels identified by RECA immunohistochemistry was studied in a rat L4 dorsal root ganglia (L4-DRG) neuropathic pain model.
Recently, it was suggested that NF1 exon skipping events could be explained by structural alterations in possible higher free-energy structures of the pre-mRNA at the donor site [ 19].
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