Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.4.21.69 (APC)
 16,337 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pseudo-homozygous APC resistance, the condition resulting from compound heterozygosity for FV R506Q (FV Leiden) and quantitative FV deficiency, provides a natural model to study the interaction between procoagulant and anticoagulant defects. This paper reports a complete FV characterization of a pseudo-homozygous APC resistant thrombotic patient. The expression of the patient's non-Leiden gene was found to be severely impaired both at the mRNA and protein levels. In particular, only FV Leiden molecules were detected in the patient's plasma by immunoblotting, which accounts for the observed marked APC resistance. Analysis of the FV cDNA obtained by reverse transcription of platelet RNA revealed that the mRNA of the non-Leiden gene was extremely reduced in amount. A PAC clone containing the whole FV gene was used to design primers for a complete FV exon scanning. A 2-bp insertion at nucleotide 3706 in the large exon 13 of the non-Leiden gene, predicting a frame-shift and premature termination of protein synthesis, was identified as responsible for the FV defect. Failure to find any case of pseudo-homozygous APC resistance in a large sample (6,804) of blood donors suggests that this condition is extremely rare among normal controls and that its detection is favoured by the thrombotic risk that it may confer.
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PMID:Molecular bases of pseudo-homozygous APC resistance: the compound heterozygosity for FV R506Q and a FV null mutation results in the exclusive presence of FV Leiden molecules in plasma. 975 18

In this work, the analysis of cross-frequency couplings (CFC) is introduced in the context of nonlinear acoustics related to the dynamics of bubble(s)-resonator systems. The results obtained from experiments specifically designed to untangle the causal connection between the CFC patterns observed at the signal level and the underlying physical processes, are discussed. It was found that "causal" amplitude-to-amplitude (AAC) and amplitude-to-phase (APC) couplings emerge in the system dynamics as a consequence of the bubble(s)-resonator mechanistic interaction in the oscillatory steady-state. In these CFC patterns, the amplitude of the fundamental frequency component (f0) effectively modulates the amplitude and relative phase of the harmonic components (Nf0). Moreover, these AAC and APC couplings give rise to "epiphenomenal" phase-to-amplitude (PAC) and phase-to-phase (PPC) couplings, in which the link between modulating and modulated parameters represents a correlation rather than a causal connection. It is shown that these CFC patterns can be exploited to determine the presence, spatial stability and radial position of nonlinear oscillating bubble(s) trapped within the acoustic chamber. Potential applications of the proposed techniques are also discussed. Substantial evidence is presented showing that CFC patterns emerging from quasi-periodic non-sinusoidal waveforms are informative on the interaction between underlying oscillators.
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PMID:Cross-frequency couplings in non-sinusoidal dynamics of interacting oscillators: Acoustic estimation of the radial position and spatial stability of nonlinear oscillating bubbles. 3014 70