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101.
Hafezparast M Klocke R Ruhrberg C Marquardt A Ahmad-Annuar A Bowen S Lalli G Witherden AS Hummerich H Nicholson S Morgan PJ Oozageer R Priestley JV Averill S King VR Ball S Peters J Toda T Yamamoto A Hiraoka Y Augustin M Korthaus D Wattler S Wabnitz P Dickneite C Lampel S Boehme F Peraus G Popp A Rudelius M Schlegel J Fuchs H Hrabe de Angelis M Schiavo G Shima DT Russ AP Stumm G Martin JE Fisher EM 《Science (New York, N.Y.)》2003,300(5620):808-812
Degenerative disorders of motor neurons include a range of progressive fatal diseases such as amyotrophic lateral sclerosis (ALS), spinal-bulbar muscular atrophy (SBMA), and spinal muscular atrophy (SMA). Although the causative genetic alterations are known for some cases, the molecular basis of many SMA and SBMA-like syndromes and most ALS cases is unknown. Here we show that missense point mutations in the cytoplasmic dynein heavy chain result in progressive motor neuron degeneration in heterozygous mice, and in homozygotes this is accompanied by the formation of Lewy-like inclusion bodies, thus resembling key features of human pathology. These mutations exclusively perturb neuron-specific functions of dynein. 相似文献
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Boly et al. (Reports, 13 May 2011, p. 858) investigated cortical connectivity patterns in patients suffering from a disorder of consciousness, using electroencephalography in an auditory oddball paradigm. We point to several inconsistencies in their data, including a failure to replicate the classical mismatch negativity. Data quality, source reconstruction, and statistics would need to be improved to support their conclusions. 相似文献
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Frequently repeated strain measurements near Palmdale, California, during the period from 1971 through 1980 indicate that, in addition to a uniform accumulation of right-lateral shear strain (engineering shear, 0.35 microradian per year) across the San Andreas fault, a 1-microstrain contraction perpendicular to the fault that accumulated gradually during the interval 1974 through 1978 was aseismically released between February and November 1979. Subsequently (November 1979 to March 1980), about half of the contraction was recovered. This sequence of strain changes can be explained in terms of south-southwestward migration of a slip event consisting of the south-southwestward movement of the upper crust on a horizontal detachment surface at a depth of 10 to 30 kilometers. The large strain change in 1979 corresponds to the passage of the slip event beneath the San Andreas fault. 相似文献
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Cadherin-mediated cell adhesion and signaling is essential for metazoan development and yet is absent from all other multicellular organisms. We found cadherin genes at numbers similar to those observed in complex metazoans in one of the closest single-celled relatives of metazoans, the choanoflagellate Monosiga brevicollis. Because the evolution of metazoans from a single-celled ancestor required novel cell adhesion and signaling mechanisms, the discovery of diverse cadherins in choanoflagellates suggests that cadherins may have contributed to metazoan origins. 相似文献