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A1555G mutation shows an antiatherosclerotic effect in primary lesion in lipofibrous plaques (P ≤ 0.05).
However, the previous analysis of lymphoblastic cells of humans carrying a hypomorphic H111R mutation shows an impaired growth of mutant cells.
As four other DRB proteins exist in Arabidopsis, we also tested if DRB2 is able to interact with other DRBs, especially DRB4, as the drb4 mutation shows an opposite molecular phenotype to that of drb2 [ 50].
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The proband, who carried the mutation, shows a more severe phenotype than his brother and exhibited sleep disorder during early childhood whereas his brother did not.
The patient carrying the P69L mutation shows a relatively late age at onset of endocrine disease.
One possible explanation is that papillary carcinoma with BRAFV599R mutation shows a better prognosis without proceeding to anaplastic transformation.
In contrast, the increase in co-operativity in PrPP101L could reflect a crucial function of PrPC in modulating Ca2+ signalling where this mutation shows a malfunctional phenotype.
The 1100delC mutation shows a high prevalence in northern Europe and its homozygosity confers a fourfold increased risk of breast cancer in women [ 12].
Humans carrying this mutation show an increased basal heart rate and decreased heart rate variability.
The first study based on overexpression of N-terminal half truncated Tau bearing ΔK280 mutation showed an increase in Tau aggregation [8].
Three more unrelated cases with an APP A713T mutation showed an onset age between 73 and 82 years [ 8].
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com