Mutations in TRPV4, a gene that encodes a Ca(2+) permeable non-selective cation channel, have recently been found in a spectrum of skeletal dysplasias that includes brachyolmia, spondylometaphyseal ...dysplasia, Kozlowski type (SMDK) and metatropic dysplasia (MD). Only a total of seven missense mutations were detected, however. The full spectrum of TRPV4 mutations and their phenotypes remained unclear.
To examine TRPV4 mutation spectrum and phenotype-genotype association, we searched for TRPV4 mutations by PCR-direct sequencing from genomic DNA in 22 MD and 20 SMDK probands.
TRPV4 mutations were found in all but one MD subject. In total, 19 different heterozygous mutations were identified in 41 subjects; two were recurrent and 17 were novel. In MD, a recurrent P799L mutation was identified in nine subjects, as well as 10 novel mutations including F471del, the first deletion mutation of TRPV4. In SMDK, a recurrent R594H mutation was identified in 12 subjects and seven novel mutations. An association between the position of mutations and the disease phenotype was also observed. Thus, P799 in exon 15 is a hot codon for MD mutations, as four different amino acid substitutions have been observed at this codon; while R594 in exon 11 is a hotspot for SMDK mutations.
The TRPV4 mutation spectrum in MD and SMDK, which showed genotype-phenotype correlation and potential functional significance of mutations that are non-randomly distributed over the gene, was presented in this study. The results would help diagnostic laboratories establish efficient screening strategies for genetic diagnosis of the TRPV4 dysplasia family diseases.
Submarine Groundwater Discharge (SGD), as a way through which solutes and nutrients travel from terrestrial areas towards coastal areas, is part of the hydrological cycle. Various methods are used to ...locate SGD at different scales. Among them, 222Rn has been developed with the viewpoint of accurate local estimations of SGD points indirectly. This research aims to identify SGD areas in the Yatsushiro Sea, southwest Japan, using the 222Rn method, while considering rivers with high 222Rn concentration in the study area. The area is an inland sea with high tidal fluctuations and there is a large contribution between the sea and groundwater, which are greatly affected by rivers. A multi-detector 222Rn survey has been carried out simultaneously with sea water electrical conductivity (EC) and temperature. In addition, several river grab samples were analysed for 222Rn concentration. Considering the sea water radon distribution and river characteristics, several points were selected for future SGD volume estimations.
Submarine Groundwater Discharge (SGD), as a way through which solutes and nutrients travel from terrestrial areas towards coastal areas, is part of the hydrological cycle. Various methods are used to ...locate SGD at different scales. Among them, 222Rn has been developed with the viewpoint of accurate local estimations of SGD points indirectly. This research aims to identify SGD areas in the Yatsushiro Sea, southwest Japan, using the 222Rn method, while considering rivers with high 222Rn concentration in the study area. The area is an inland sea with high tidal fluctuations and there is a large contribution between the sea and groundwater, which are greatly affected by rivers. A multi-detector 222Rn survey has been carried out simultaneously with sea water electrical conductivity (EC) and temperature. In addition, several river grab samples were analysed for 222Rn concentration. Considering the sea water radon distribution and river characteristics, several points were selected for future SGD volume estimations.
Intermediate silicon layers detector for the CDF experiment Affolder, A; Azzi-Bacchetta, P; Bacchetta, N ...
Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment,
10/2000, Letnik:
453, Številka:
1
Journal Article
Recenzirano
The Intermediate Silicon Layers (ISL) detector is currently being built as part of the CDF II detector upgrade project. The ISL detector will significantly improve tracking in the central region and, ...together with the Silicon Vertex detector, provide stand-alone 3D track information in the forward/backward regions. In this article, we present the quality of the production sensors manufactured by Hamamatsu Photonics, which account for roughly half of the silicon sensors used in the ISL detector.
We report the observation of B{sub s}{sup 0}-B{sub s}{sup 0} oscillations from a time-dependent measurement of the B{sub s}{sup 0}-B{sub s}{sup 0} oscillation frequency {delta}m{sub s}. Using a data ...sample of 1 fb{sup -1} of pp collisions at {radical}(s)=1.96 TeV collected with the CDF II detector at the Fermilab Tevatron, we find signals of 5600 fully reconstructed hadronic B{sub s} decays, 3100 partially reconstructed hadronic B{sub s} decays, and 61 500 partially reconstructed semileptonic B{sub s} decays. We measure the probability as a function of proper decay time that the B{sub s} decays with the same, or opposite, flavor as the flavor at production, and we find a signal for B{sub s}{sup 0}-B{sub s}{sup 0} oscillations. The probability that random fluctuations could produce a comparable signal is 8x10{sup -8}, which exceeds 5{sigma} significance. We measure {delta}m{sub s}=17.77{+-}0.10(stat){+-}0.07(syst) ps{sup -1} and extract vertical bar V{sub td}/V{sub ts} vertical bar =0.2060{+-}0.0007({delta}m{sub s}){sub -0.0060}{sup +0.0081}({delta}m{sub d}+theor)
Design and performance tests of the CDF time-of-flight system Paus, Ch; Grozis, C.; Kephart, R. ...
Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment,
04/2001, Letnik:
461, Številka:
1
Journal Article
Recenzirano
The CDF
II detector contains a time-of-flight detector consisting of 216 scintillator bars of 279
cm length and 4×4
cm
2 cross-section located at a radius of 138
cm from the beam axis. The bars are ...installed on the inner surface of the CDF solenoid, which produces an axial field of 1.4
T. Nineteen-stage fine-mesh photomultiplier tubes are attached at both ends of the scintillator bars. Photostatistics limit the time-of-flight resolution, which is expected to be 100
ps. The primary physics motivation is K
± identification for improved neutral B meson flavor determination.
The radiation hardness of Kuraray 3HF scintillating and clear optical fibers has been investigated using
60Co γ-rays in the dose range 0.4–500
krad. Significant initial degradation in the attenuation ...length was observed both for 3HF and clear fibers at a dose as small as 10
krad. The radiation hardness of both the scintillating and clear fibers is identical if it is expressed in terms of the ratio of the attenuation lengths after to before irradiation. The radiation damage of 3HF fibers was observed to recover substantially with a time scale of a few months. The attenuation length and mechanical durability against bending were measured for clear fibers by changing
S parameter which characterizes the softness of the fibers.
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