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In theses studies, degree of conservation at the variation position among species and gene families, physico-chemical consequences on the predicted variant protein and splicing effect are investigated (7, 8).
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After establishing that micro-patterned ESCs exhibit different signaling levels of Stat3 activation, we next sought to determine if this change in signaling activation had downstream consequences on known and predicted targets of Stat3.
This paper concerns a frequency-based route choice model for congested transit networks, which takes into account the consequences of congestion on the predicted flows as well as on the expected waiting and travel times.
Subgroup analyses will be performed based on presence or absence of mutations at particular loci (eg, FBN-1 mutations) and, where possible, based on the predicted functional consequence of particular categories of mutation (eg, nonsense vs missense FBN-1 mutations) among those subjects with identified mutations.
We also explored systematically the predicted structural consequences of NS-causing SOS1 defects, developing a classification of these gene lesions based on the predicted role of affected residues and functional consequences derived from the nature of the amino acid change.
By PolyPhen-2 and PSIPRED programs, we further compared the predicted consequences on protein secondary structure of all reported GCAP1 mutations, p.P50L [ 3], p.E89K [ 4], p.Y99C [ 6], p.D100E [ 4], p.N104K [ 7], p.T114I, p.I143NT [ 8], p.L151F [ 9, 10], p.E155G [ 11], and p.G159V [ 4], as well as of the two novel changes, p.L84F and p.I107T.
Mutations were divided into three categories according to the predicted functional consequences on wolframin function (Fig. 1).
It also has consequences on the approaches used for predicting functional sites.
We aimed at determining the relationship between genotype and phenotype by dividing patients into three groups according to the predicted consequences of their mutations on wolframin function and assuming translation of mutated WSF1 transcripts, as previously shown (25).
Modelling results can also complement interpretations based on environmental monitoring data and provide information on the consequences of predicted emissions and occurrence in water systems.
The problems are central and structural, the predicted consequences of its business model.
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