A naturally occurring mutation of the mass1 (monogenic audiogenic seizure-susceptible) gene recently has been reported in the Frings mouse strain, which is prone to audiogenic seizures. The human orthologous gene, MASS1, was mapped to chromosome 5q14, for which we previously have reported significant evidence of linkage to febrile seizures (FEB4). We screened for MASS1 mutations in individuals from 48 families with familial febrile seizures and found 25 DNA alterations. None of nine missense polymorphic alleles was significantly associated with febrile seizures; however, a nonsense mutation (S2652X) causing a deletion of the C-terminal 126 amino acid residues was identified in one family with febrile and afebrile seizures. Our results suggest that a loss-of-function mutation in MASS1 might be responsible for the seizure phenotypes, though it is not likely that MASS1 contributed to the cause of febrile seizures in most of our families.
We report our intensive, high-angular-resolution radio monitoring observations of the jet in M 87 with the VLBI Exploration of Radio Astrometry (VERA) and the European VLBI Network (EVN) from February 2011 to October 2012, together with contemporaneous high-energy (HE; 100 MeV< E <100 GeV) γ-ray light curves obtained by the Fermi Large Area Telescope (LAT). During this period (specifically from February 2012 to March 2012), an elevated level of the M 87 flux is reported at very-high-energy (VHE; E > 100 GeV) γ-rays by VERITAS. We detected a remarkable (up to ∼70%) increase of the radio flux density from the unresolved jet base (radio core) with VERA at 22 and 43 GHz coincident with the VHE activity. Meanwhile, we confirmed with EVN at 5 GHz that the peculiar knot HST-1, which is an alternative favored γ-ray production site located at 120 pc from the nucleus, remained quiescent in terms of its flux density and structure. These results in the radio bands strongly suggest that the VHE γ-ray activity in 2012 originates in the jet base within 0.03 pc or 56 Schwarzschild radii (the VERA spatial resolution of 0.4 mas at 43 GHz) from the central supermassive black hole. We further conducted VERA astrometry for the M 87 core at six epochs during the flaring period, and detected core shifts between 22 and 43 GHz, a mean value of which is similar to that measured in the previous astrometric measurements. We also discovered a clear frequency-dependent evolution of the radio core flare at 43, 22 and 5 GHz; the radio flux density increased more rapidly at higher frequencies with a larger amplitude, and the light curves clearly showed a time-lag between the peaks at 22 and 43 GHz, the value of which is constrained to be within ∼ 35 − 124 days. This indicates that a new radio-emitting component was created near the black hole in the period of the VHE event, and then propagated outward with progressively decreasing synchrotron opacity. By combining the obtained core shift and time-lag, we estimated an apparent speed of the newborn component propagating through the opaque region between the cores at 22 and 43 GHz. We derived a sub-luminal speed (less than ∼0.2c) for this component. This value is significantly slower than the super-luminal (∼1.1c) features that appeared from the core during the prominent VHE flaring event in 2008, suggesting that the stronger VHE activity can be associated with the production of the higher Lorentz factor jet in M 87.
Tumor necrosis factor (TNF) is a proinflammatory cytokine that participates in the inflammatory reaction in patients with asthma. The TNFA and TNFB genes, which encode TNF-alpha and TNF-beta, respectively, are located within the region encoding the human major histocompatibility complex on chromosome 6p21.3, which showed linkage to atopic asthma in our genome-wide search. To determine whether polymorphisms in the 5' flanking region of the TNFA gene (-1031C/T, -863C/A, and -857C/T) and an NcoI polymorphism in the TNFB gene (LTA NcoI) are associated with the development of asthma, we performed transmission disequilibrium tests of families identified through children with atopic asthma. Genotypes of families were determined by polymerase chain reaction-based restriction fragment length polymorphism or SNaPshot analysis. Transmission disequilibrium tests of 144 asthmatic families revealed that transmission of the -857C allele and the -1031T-863C-857C haplotype in the TNFA gene to asthma-affected offspring occurred more frequently than expected (-857C allele, p = 0.0055; -1031T-863C-857C haplotype, p = 0.0002). Our results suggest that TNFA or nearby genes, including those in the major histocompatibility complex region, may contribute to the development of asthma in the Japanese population.
The authors found a novel locus on chromosome 18p11.2 for febrile seizures (FSs). IMPA2 is likely to be an FS susceptibility gene.
We investigated the jet width profile with distance along the jet in the nearby radio galaxy NGC 1052 at radial distances between ∼ 300 to 4 × 10 7 Schwarzschild Radii(R S ) from the central engine on both their approaching and receding jet sides. The width of jets was measured in images obtained with the VLBI Space Observatory Programme (VSOP), the Very Long Baseline Array (VLBA), and the Very Large Array (VLA). The jet-width profile of receding jets are apparently consistent with that of approaching jets throughout the measuring distance ranges, indicating symmetry at least up to the sphere of gravitational influence of the central black hole. The power-law index a of the jet-width profile (w jet ∝ r a , where w jet is the jet width, r is the distance from the central engine in the unit of R S ) apparently shows a transition from a ∼ 0 to a ∼ 1, i.e., the cylindrical-to-conical jet structures, at a distance of ∼ 1 × 10 4 R S . The cylindrical jet shape at the small distances is reminiscent of the innermost jets in 3C 84. Both the central engines of NGC 1052 and 3C 84 are surrounded by dense material, part of which is ionized and causes heavy free-free absorption.
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