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81.
Gilbert SL Zhang L Forster ML Anderson JR Iwase T Soliven B Donahue LR Sweet HO Bronson RT Davisson MT Wollmann RL Lahn BT 《Nature genetics》2006,38(2):245-250
Hypertonia, which results from motor pathway defects in the central nervous system (CNS), is observed in numerous neurological conditions, including cerebral palsy, stroke, spinal cord injury, stiff-person syndrome, spastic paraplegia, dystonia and Parkinson disease. Mice with mutation in the hypertonic (hyrt) gene exhibit severe hypertonia as their primary symptom. Here we show that hyrt mutant mice have much lower levels of gamma-aminobutyric acid type A (GABA(A)) receptors in their CNS, particularly the lower motor neurons, than do wild-type mice, indicating that the hypertonicity of the mutants is likely to be caused by deficits in GABA-mediated motor neuron inhibition. We cloned the responsible gene, trafficking protein, kinesin binding 1 (Trak1), and showed that its protein product interacts with GABA(A) receptors. Our data implicate Trak1 as a crucial regulator of GABA(A) receptor homeostasis and underscore the importance of hyrt mice as a model for studying the molecular etiology of hypertonia associated with human neurological diseases. 相似文献
82.
Greenway MJ Andersen PM Russ C Ennis S Cashman S Donaghy C Patterson V Swingler R Kieran D Prehn J Morrison KE Green A Acharya KR Brown RH Hardiman O 《Nature genetics》2006,38(4):411-413
We recently identified angiogenin (ANG) as a candidate susceptibility gene for amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder characterized by adult-onset loss of motor neurons. We now report the finding of seven missense mutations in 15 individuals, of whom four had familial ALS and 11 apparently 'sporadic' ALS. Our findings provide further evidence that variations in hypoxia-inducible genes have an important role in motor neuron degeneration. 相似文献
83.
84.
The ATP-binding cassette family is one of the largest groupings of membrane proteins, moving allocrites across lipid membranes,
using energy from ATP. In bacteria, they reside in the inner membrane and are involved in both uptake and export. In eukaryotes,
these transporters reside in the cell’s internal membranes as well as in the plasma membrane and are unidirectional—out of
the cytoplasm. The range of substances that these proteins can transport is huge, which makes them interesting for structure–function
studies. Moreover, their abundance in nature has made them targets for structural proteomics consortia. There are eight independent
structures for ATP-binding cassette transporters, making this one of the best characterised membrane protein families. Our
understanding of the mechanism of transport across membranes and membrane protein structure in general has been enhanced by
recent developments for this family. 相似文献
85.
Nam Q Nguyen Laura K Bryant Carly M Burgstad Robert J Fraser Daniel Sifrim Richard H Holloway 《河南科技》2010,(3)
AIM: To assess the impact of bolus volume on the characteristics of small intestinal (SI) impedance signals.METHODS: Concurrent SI manometry-impedance measurements were performed on 12 healthy volunteers to assess the pattern of proximal jejunal fluid bolus movement over a 14 cm-segment.Each subject was given 34 boluses of normal saline (volume from 1 to 30 mL) via the feeding tube placed immediately above the proximal margin of the studied segment.A bolus-induced impedance event occurred if there was > 12%... 相似文献
86.
Two roadside surveys were conducted for dwarf mistletoes parasitizing lodgepole pine and Douglas-fir on the Sawtooth National Forest, Idaho. One survey used variable-radius plots located less than 150 m from roads. The 2nd survey used variable-radius plots established at 200-m intervals along 1600-m transects run perpendicular to the same roads. Estimates of the incidence (percentage of trees infected and percentage of plots infested) and severity (average dwarf mistletoe rating) for both lodgepole pine and Douglas-fir dwarf mistletoes were not significantly different for the 2 survey methods. These findings are further evidence that roadside-plot surveys and transect-plot surveys conducted away from roads provide similar estimates of the incidence of dwarf mistletoes for large forested areas. 相似文献
87.
88.
Robert L. Mathiasen 《西北部美国博物学家》2011,46(3)
Mistletoe infection of Douglas-fir and spruce seedlings increased as the mean dwarf mistletoe rating of the overstory, seedling density, and total age of seedlings increased. Percent of spruce seedlings infected increased more rapidly than for Douglas-fir as overstory dwarf mistletoe ratings increased. However, the intensity of infection as measured by the mean dwarf mistletoe rating of seedlings, increased at about the same rate for spruce and Douglas-fir. Percent infection of seedlings less than 20 years total age was higher for spruce than for Douglas-fir. Douglas-fir and spruce seedling mortality was from two to three times greater in heavily infested stands than in healthy stands. 相似文献
89.
Kane Lake Cirque lies in the western Pioneer Mountains of south central Idaho. An inventory of the high elevation flora of the cirque revealed the presence of 180 vascular taxa representing 95 genera and 30 families. Five alpine taxa are here documented from Idaho for the first time: Carex incurviformis Mack., Draba fladnizensis Wilfen., Potentilla nivea L., Ranunculus gelidus Kar. & Kir., and Ranunculus pygmaeus Wahlenb. Kane Lake Cirque also contains populations of four additional alpine taxa considered to be of conservation concern in Idaho: Erigeron humilis Graham, Parnassia kotzebuei Cham., Saxifraga adscendens L., and Saxifraga cernua L. 相似文献
90.
Robert N. Winget 《西北部美国博物学家》2011,44(2)
A 36.9x10 6 m 3 reservoir constructed on Huntington River, Emery County, Utah, resulted in changes in physical habitat, water quality, temperature, and flow regime. The greatest changes in physical habitat resulted from: (1) sediment additions from dam and road construction plus erosion of reservoir basin during filling; and (2) changing stream flow from a spring high runoff regime to a moderated flow regime. Elimination of spring nutrient concentration peaks and overall reduction of total dissolved nutrient availability in the river plus moderate reductions in pH were the most apparent water quality changes below the reservoir. Water temperature changes were an increased diurnal and seasonal constancy, summer depression, and winter elevation, generally limited to a 10–12 km reach below the dam. Physical and chemical changes altered macroinvertebrate community structure, with changes greatest near the dam and progressively less as distance downstream increased. Below the dam: (1) more environmentally tolerant taxa increased their dominance; (2) relative numbers of smaller sized individuals increased in relation to larger individuals; and (3) filter feeding, collector/gatherers, and scrapers gained an advantage over shredders. Insect taxa such as Rhithrogena robusta, Pteronarcella badia, and Ephemerella doddsi were eliminated from stream reaches near the dam, and other taxa such as Arctopsyche grandis, Chironomidae, and Simuliidae increased in numbers. Late spring to early summer egg hatch proved to be a disadvantage to Brachycentrus occidentalis, and B. americanus, with a fall hatch, was less impacted by altered river flow patterns. Macroinvertebrate taxa with small instar larvae present from late summer to early fall were negatively impacted by the unnaturally high July and August flows. The reservoir became a physical barrier to downstream larval drift and upcanyon and downcanyon immigration of adults, resulting in reduced numbers of several species above and below the reservoir. 相似文献