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Thus, it appears that the SAC functions to correct mitotic abnormalities in an mia1-mutNES4 background and suggests that a complete absence of Mia1p has more severe functional consequences than an NES mutation.
However, G6PD deficiency may have more severe functional consequences for the RBC than GR deficiency, since insufficient formation of NADPH leads to an inadequate supply of reducing equivalents to both the glutathione and the thioredoxin system, whereas the absence of GR activity in non-parasitized RBCs is obviously well compensated [18].
Point mutation experiments may have distinctive outcomes, some could cause severe functional consequences and others could result in completely undetectable change.
Variants in intronic regions affecting constitutive splice sites may have severe functional consequences similar to nonsense or missense mutations, resulting in aberrantly included introns or skipped exons, and sometimes in nonsense-mediated decay.
We believe this is an important finding as it demonstrates that severe functional consequences of mutations at the selectivity filter are not necessarily linked to changes in slow inactivation.
Coding variants that are predicted to have severe functional consequences may be hypothesized to confer larger phenotypic effects, have higher translational potential and may be more amenable to designing downstream functional experiments.
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In addition, the severe physiological and functional consequences have negative impacts on physical function, pulmonary capacity, nutritional state, psychological well-being and quality of life.
Peripheral nerve injury during the critical period of development imparts severe structural and functional consequences on the muscles of the growing animal.
We wished to uncouple the role of periaxin in regulating Schwann cell elongation from the severe morphological and functional consequences of its complete absence.
Knee adduction moment (KAM), usually used to estimate intra-articular overload, has been strongly related to OA severity [ 3] and its progression [ 4, 5] the higher the intra-articular load, the more severe will be the progression and functional consequences of the disease.
SNHL may appear after severe brain injury or temporal bone trauma and potentially have major functional consequences.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com