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Physical mapping of a translocation breakpoint in neurofibromatosis   总被引:13,自引:0,他引:13  
The gene for von Recklinghausen neurofibromatosis (NF1), one of the most common autosomal-dominant disorders of humans, was recently mapped to chromosome 17 by linkage analysis. The identification of two NF1 patients with balanced translocations that involved chromosome 17q11.2 suggests that the disease can arise by gross rearrangement of the NF1 locus, and that the NF1 gene might be identified by cloning the region around these translocation breakpoints. To further define the region of these translocations, a series of chromosome 17 Not I-linking clones has been mapped to proximal 17q and studied by pulsed-field gel electrophoresis. One clone, 17L1 (D17S133), clearly identifies the breakpoint in an NF1 patient with a t(1;17) translocation. A 2.3-megabase pulsed-field map of this region was constructed and indicates that the NF1 breakpoint is only 10 to 240 kilobases away from 17L1. This finding prepares the way for the cloning of NF1.  相似文献   
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Active Cavity Radiometer Irradiance Monitor (ACRIM) solar constant measurements from 1980 to 1986 are compared with ground-based, irradiance spectrophotometry of selected Fraunhofer lines. Both data sets were identically sampled and smoothed with an 85-day running mean, and the ACRIM total solar irradiance (S) values were corrected for sunspot blocking (S(c)). The strength of the mid-photospheric manganese 539.4-nanometer line tracks almost perfectly with ACRIM S(e), Other spectral features formed high in the photosphere and chromosphere also track well. These comparisons independently confirm the variability in the ACRIM S(e), signal, indicate that the source of irradiance is faculae, and indicate that ACRIM S(e), follows the 11-year activity cycle.  相似文献   
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The eye of the marine mollusc Bulla contains a circadian pacemaker which, along with critical entrainment pathways, is located among a small group of neurons at the base of the retina. Long-term intracellular recording from cells of the organized photoreceptor layer, which constitutes most of the retinal volume, indicates that these cells are not involved in generating the rhythm since rhythmic changes in membrane potential were not observed. In addition, surgical removal of the entire photoreceptor layer does not alter the period of the circadian rhythm and does not prevent phase shifts by light pulses.  相似文献   
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Supercapacitors, also called ultracapacitors or electrochemical capacitors, store electrical charge on high-surface-area conducting materials. Their widespread use is limited by their low energy storage density and relatively high effective series resistance. Using chemical activation of exfoliated graphite oxide, we synthesized a porous carbon with a Brunauer-Emmett-Teller surface area of up to 3100 square meters per gram, a high electrical conductivity, and a low oxygen and hydrogen content. This sp(2)-bonded carbon has a continuous three-dimensional network of highly curved, atom-thick walls that form primarily 0.6- to 5-nanometer-width pores. Two-electrode supercapacitor cells constructed with this carbon yielded high values of gravimetric capacitance and energy density with organic and ionic liquid electrolytes. The processes used to make this carbon are readily scalable to industrial levels.  相似文献   
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Deepwater formation in the North Atlantic by open-ocean convection is an essential component of the overturning circulation of the Atlantic Ocean, which helps regulate global climate. We use water-column radiocarbon reconstructions to examine changes in northeast Atlantic convection since the Last Glacial Maximum. During cold intervals, we infer a reduction in open-ocean convection and an associated incursion of an extremely radiocarbon ((14)C)-depleted water mass, interpreted to be Antarctic Intermediate Water. Comparing the timing of deep convection changes in the northeast and northwest Atlantic, we suggest that, despite a strong control on Greenland temperature by northeast Atlantic convection, reduced open-ocean convection in both the northwest and northeast Atlantic is necessary to account for contemporaneous perturbations in atmospheric circulation.  相似文献   
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Phenobarbital has been the primary antiepileptic drug used in primates, but the dosage required for seizure control is frequently associated with significant side effects. Newer antiepileptic drugs and adjunctive therapies currently being used in human medicine provide additional options for treatment of nonhuman primates. This report describes different drug regimes used for control of epileptic seizures in apes at the Milwaukee County Zoo (Milwaukee, Wisconsin, U.S.A.), including the addition of acetazolamide to phenobarbital, levetiracetam, carbamazepine, and the use of extended cycle oral contraceptives to assist seizure control in female apes with catamenial epilepsy.  相似文献   
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Intrauterine swabs were obtained from cows after calving on two commercial dairy herds with contrasting hygienic environments and incidence of leucorrhea, and cultured aerobically and anaerobically. Of 26 cows with a normal calving and puerperium, eight of 14 (57 per cent) were sterile on farm B where hygiene was poor, compared with five of 12 (42 per cent) on farm A where hygiene was better. Two cows on farm B retained their placentas and subsequently developed metritis/endometritis. Actinomyces pyogenes was the commonest bacterial isolate and Fusobacterium nucleatum, Proteus mirabilis and Bacteroides melaninogenicus were also frequently observed. Similar isolates were obtained from cows on farm B with parturient or puerperal disorders. The contrasting hygienic environments had no influence on either the quantitative or qualitative uterine bacterial flora. Thus, the difference in the incidence of endometritis must have been due to factors other than hygiene.  相似文献   
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