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81.
Hazan J Fonknechten N Mavel D Paternotte C Samson D Artiguenave F Davoine CS Cruaud C Dürr A Wincker P Brottier P Cattolico L Barbe V Burgunder JM Prud'homme JF Brice A Fontaine B Heilig B Weissenbach J 《Nature genetics》1999,23(3):296-303
Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous neurodegenerative disorder characterized by progressive spasticity of the lower limbs. Among the four loci causing AD-HSP identified so far, the SPG4 locus at chromosome 2p2-1p22 has been shown to account for 40-50% of all AD-HSP families. Using a positional cloning strategy based on obtaining sequence of the entire SPG4 interval, we identified a candidate gene encoding a new member of the AAA protein family, which we named spastin. Sequence analysis of this gene in seven SPG4-linked pedigrees revealed several DNA modifications, including missense, nonsense and splice-site mutations. Both SPG4 and its mouse orthologue were shown to be expressed early and ubiquitously in fetal and adult tissues. The sequence homologies and putative subcellular localization of spastin suggest that this ATPase is involved in the assembly or function of nuclear protein complexes. 相似文献
82.
A spelling device for the paralysed 总被引:29,自引:0,他引:29
Birbaumer N Ghanayim N Hinterberger T Iversen I Kotchoubey B Kübler A Perelmouter J Taub E Flor H 《Nature》1999,398(6725):297-298
83.
Electrical conduction through DNA molecules 总被引:23,自引:0,他引:23
The question of whether DNA is able to transport electrons has attracted much interest, particularly as this ability may play a role as a repair mechanism after radiation damage to the DNA helix. Experiments addressing DNA conductivity have involved a large number of DNA strands doped with intercalated donor and acceptor molecules, and the conductivity has been assessed from electron transfer rates as a function of the distance between the donor and acceptor sites. But the experimental results remain contradictory, as do theoretical predictions. Here we report direct measurements of electrical current as a function of the potential applied across a few DNA molecules associated into single ropes at least 600 nm long, which indicate efficient conduction through the ropes. We find that the resistivity values derived from these measurements are comparable to those of conducting polymers, and indicate that DNA transports electrical current as efficiently as a good semiconductor. This property, and the fact that DNA molecules of specific composition ranging in length from just a few nucleotides to chains several tens of micrometres long can be routinely prepared, makes DNA ideally suited for the construction of mesoscopic electronic devices. 相似文献
84.
HUANG Yanhong LUE Huibin GUO Haizhong LIU Lifeng HE Meng CHEN Zhenghao ZHOU Yueliang ZHAO Kun JIN Kuijuan YANG Guozen 《科学通报(英文版)》2006,51(16):2035-2037
Strontium titanate (SrTiO3) has been widely used as substrates for growing perovskite oxides thin films be- cause SrTiO3 is chemically and compositionally stable, and has small lattice mismatch with many perovskite oxides[1―3]. It is known that SrTiO3 it… 相似文献
85.
High frequency of unequal recombination in pseudoautosomal region shown by proviral insertion in transgenic mouse 总被引:16,自引:0,他引:16
The mammalian X and Y chromosomes, in contrast to the autosomes, pair during male meiosis only near the telomeres. Alleles localized in this region can undergo reciprocal exchange during meiosis. Because such sequences do not show strict sex-linked inheritance, they have been termed pseudoautosomal. In man, several DNA sequences have been described which show pseudoautosomal transmission and which are localized in the pairing region at the ends of the short arms of both the X and Y chromosomes (refs 6-9, and D. Page, unpublished results). We now show that the transgenic mouse strain, Mov-15, contains a single Moloney murine leukaemia virus (M-MuLV) genome in its germline, and genetic evidence indicates that the provirus is integrated into the pseudoautosomal region of the sex chromosome. Proviral copies are lost or gained in 7% of male meioses in this strain, and mouse sequences flanking the provirus are tandemly repeated and highly variable. We conclude that unequal recombination events occur with high frequency in the pairing region, possibly because of the presence of repeated sequences. 相似文献
86.
H. U. Lütolf 《Cellular and molecular life sciences : CMLS》1971,27(11):1357-1358
Zusammenfassung HomozygoteDrosophila-melanogaster-Weibchen, genetisch markiert mit scarlet (st), Kinked (Ki) und pink peach (Pp) wurden bestrahlt, um Compound-3-Chromosomen herzustellen. Es wurden ausschliesslich st/st- und Pp Ki/Ki(?) Pp-Compoundchromosomen gefunden. Dies zeigt, dass das Zentromer links der Markierung Kinked liegt.
This work was supported by Schweizerischer Nationalfonds zur Förderung der wissenschaftlichen Forschung. 相似文献
This work was supported by Schweizerischer Nationalfonds zur Förderung der wissenschaftlichen Forschung. 相似文献
87.
D. G. Rüegg 《Cellular and molecular life sciences : CMLS》1971,27(2):156-157
Zusammenfassung Einzelne markhaltige Nervenfasern vonRana esculenta wurden mit Mittelfrequenz-Impulsen (20 kHz) quer durchströmt (Mittelfrequenz-Querreizung), Die Lage der Reizelektroden bezüglich eines Schnürrings wurde variiert, und die zugehörigen Reizschwellen wurden bestimmt. Die Simulierung der Experimente mit einem Modell zeigte, dass wirkliche Querreizung einer Nervenfaser im Bereich eines Schnürrings möglich ist, wobei für einen Schwellenreiz eine Feldstärke von 50 ± 16.5 V/cm (Scheitel zu Scheitel) notwendig ist. 相似文献
88.
P. Bischof C. Krähenbühl P. A. Desaulles 《Cellular and molecular life sciences : CMLS》1973,29(5):615-616
Résumé Par des canulations toutes les 6 heures chez des rattes le 7ème jour de la pseudogestation nous avons pu mettre en évidence un pic de progestérone entre 09.00 et 11.00. Sur la base de nos résultats (progestérone, 20 -OH-progestérone, poids des ovaires et corps jaune) et de la publication deFreeman etNeill
3 nous discutons le rôle de la LTH comme régulation possible de ce phénomène.
Acknowledgements. The authors wish to express their appreciation to Dr.L. Schenkel-Hulliger for her helpful advice during this project. 相似文献
Acknowledgements. The authors wish to express their appreciation to Dr.L. Schenkel-Hulliger for her helpful advice during this project. 相似文献
89.
Summary In the isolated guinea-pig heart, it has been found that the amount of adenosine which slows the heart rate is about 100 times greater than the amount which increases coronary flow. 相似文献
90.