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Point mutations (including the P102L human PrP mutation, equivalent to the P101L mouse PrP mutation studied here) and octapeptide repeat expansions associated with familial prion disease increase the association of recombinant PrP with sGAGs [53].
C. elegans unc-18 (e81) null worms were then rescued transgenically with an expression plasmid containing either wildtype unc-18 or unc-18 with the Glu378 or the Asn144 point mutation (equivalent to Munc18-1 Ser146).
Our results show that the H236A mutation (equivalent to H263A in human TDP1) within the first HKD motif completely obliterated the phosphodiesterase activity.
We showed that the yeast Ala431Thr change, corresponding to human Ala428Thr, reduced mitochondrial respiratory activity, whereas the mutation equivalent to human Arg620Lysfs*8 behaved as a null allele.
The combined data infer that the Tp53 R270H mutation (equivalent to the human Tp53 R273hotspotot mutation) can mediate initiation of CaP, at least in the context of Nkx3.1 haploinsufficiency and on a congenic FVB/NJ strain background.
We explored for corresponding alterations in SAN function and intracardiac conduction and clarified possible mechanisms underlying these in an established mouse long QT syndrome type 3 model carrying a mutation equivalent to human SCN5A-ΔKPQ.
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The full-length hUCP2 cDNA as well as the cDNAs carrying UCP2 mutations equivalent to patient 1 and patient 2 and the rat UCP1 cDNA were cloned into the shuttle vector pAdTrack-CMV.
Some murine (m HCCs acquire Ctnnb1 mutations equivalent to those in human (h HCC.
We thus generated mutations equivalent to D72C (i.e. D39C and D105C).
Consequently, leaf genomes must contain a significant number of mutations, equivalent to the sum of replication- and repair-caused mutations.
Results Two point mutations equivalent to those found in individuals with FSGS were individually introduced into yeast myo1.
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