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Exact(8)
The reason for increased expression of Nav1.5 protein in mice with a mild phenotype is as yet unknown.
This mild phenotype is due in part to compensatory upregulation of the dystrophin-related protein utrophin [24] [26].
The mild phenotype is also in this case thought to be related to the production of a partially functional protein-variant encoded by an in-frame transcript, which in this case lacks exon 10.
The mild phenotype is thought to be caused by the production of an in-frame transcript, in which exon 8 is skipped and exon 9 is extended with 5 bp [15]; exon 8 encodes the region of the ATP7A-protein between the last metal-binding domain and the first transmembrane domain.
This relatively mild phenotype is in line with that of the single NTCP-deficient patient described to date.
(2) A mutation that alone has a mild phenotype is synergistic with GFP-fimbrin, inferring involvement of the mutated tropomyosin sites in interaction between the two proteins.
Similar(52)
The consequences of KvLQT1 β-subunit (Kcne1 gene) overexpression in Scn5a+/− mice with a mild phenotype are also difficult to predict.
Mice with a severe phenotype correspond to the expected haploinsufficient situation since they exhibit ≈50% reduction in Nav1.5 protein expression whereas Nav1.5 reduction in mice with a mild phenotype was less pronounced.
A mild phenotype was also reported in other African populations.
In a recent epidemiological study [ 9] also, a rather mild phenotype was suggested.
When origin licensing was inhibited using RNAi against mcm-7, a mild phenotype was observed: chromosome decondensation was delayed relative to wild-type but occurred faster than in cdc-45 RNAi embryos.
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