Using these improved DTI methods, we (1) report both core and mutation-specific patterns of white matter change in bvFTD; and (2) demonstrate that longitudinal DTI is a feasible outcome measure for clinical trials, requiring smaller sample sizes than other more conventional outcome measures.
In the present cohort of compound heterozygous patients, this is generally true, particularly for truncating mutations, protein core mutations, and splice site mutations.
Consequently, mutations of both core PCP and effector molecules lead to a wide spectrum of ciliary dysfunction syndromes (Gerdes et al., 2009; Wallingford, 2012).
The oligonucleotides used as either radiolabeled probes or competitors (sense strands are shown, with core sequence underlined and mutation in bold-face) as previously described [12].
Although multiple HBV isolates were involved in this outbreak, all the fatal fulminant hepatitis cases were caused by genotype D1 containing both precore and core promoter mutations.
We present clinical and experimental data for three novel HBA2 gene core and proximal promoter mutations.
Clinical data and prevalence of pre-core and core promoter mutations in patients infected with HBV/C2 and HBV/CD1, respectively are shown in Table 2.
Further transfection assay and mutation analysis showed that the core promoter contains a functional initiator.
Importantly, many residues within the hydrophobic core are associated with drug resistance, and mutations in the core likely affect the dynamic properties of HIV PR and potentially affect the ability of PR to bind inhibitors and substrates.
The core mutation W28 at nucleotide 1896 (precore mutation C28) and clade genotyping were determined by research DNA microarray (bioMérieux, Marcy l'Etoile, France) [ 12].
Mutations in the core and the periphery of the protein affect similar aspects of folding for both variants, suggesting a common trajectory with folding of the core region followed by the folding of the periphery.
