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排序方式: 共有78条查询结果,搜索用时 15 毫秒
1.
Manuela C. Koch Kenneth Ricker Michael Otto Tiemo Grimm Klaus Bender Barbara Zoll Peter S. Harper Frank Lehmann-Horn Reinhardt Rüdel Eric P. Hoffman 《Human genetics》1991,88(1):71-74
Summary Paramyotonia congenita (PC), an autosomal dominant non-progressive muscle disorder, is characterised by cold-induced stiffness followed by muscle weakness. The weakness is caused by a dysfunction of the sodium channel in muscle fibre. Parts of the gene coding for the -subunit of the sodium channel of the adult human skeletal muscle (SCN4A) have been localised on chromosome 17. To investigate the role of this gene in the etiology of PC, a linkage analysis in 17 well-defined families was carried out. The results (z=20.61, =0.001) show that the mutant gene responsible for the disorder is indeed tightly linked to the SCN4A gene. The mutation causing hyperkalemic periodic paralysis (HyperPP) with myotonia has previously been mapped to this gene locus by the same candidate gene approach. Thus, our data suggest that PC and HyperPP are caused by allelic mutations at a single locus on chromosome 17.Dedicated to Professor P. E. Becker on the occasion of his 83rd birthday. 相似文献
2.
Katrin Kausch Clemens R. Müller Tiemo Grimm Kenneth Ricker Marcella Rietschel Sabine Rudnik-Schöneborn Klaus Zerres 《Human genetics》1991,86(3):317-318
Summary Two recent articles have reported the linkage of a gene for recessive spinal muscular atrophy (SMA) on the chromosome region 5q11.2–13.3. Our data show no linkage of the dominantly inherited forms of SMA to this chromosome region. 相似文献
3.
Preparative amounts of formyl-methionyl-tRNAfmet, methionyl-tRNAfmet, and tRNAfmet were separated from each other with baseline resolution in 30 min using mixed-mode HPLC on hexanoic anhydride-modified aminopropylsilyl-Hypersil 2. Pure tRNAfmet was aminoacylated with [35S]methionine in the presence or absence of a formyl donor and was immediately fractionated on the column. Two isoacceptors, tRNA1fmet and tRNA2fmet, as well as aminoacyl-tRNA synthetases were clearly separated from each other. The purified f[35S]-methionyl-tRNA was biologically active in that as much as 98% could be bound to ribosomes in response to AUGUAA in vitro. Formyl-methionine was released from this complex by the action of termination factor and greater than 92% of bound formyl-methionine was released by puromycin. 相似文献
4.
Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract 总被引:3,自引:0,他引:3
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Liquori CL Ikeda Y Weatherspoon M Ricker K Schoser BG Dalton JC Day JW Ranum LP 《American journal of human genetics》2003,73(4):849-862
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19 (DM1) or 3 (DM2). In 2001, we demonstrated that DM2 is caused by a CCTG expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene. To investigate the ancestral origins of the DM2 expansion, we compared haplotypes for 71 families with genetically confirmed DM2, using 19 short tandem repeat markers that we developed that flank the repeat tract. All of the families are white, with the majority of Northern European/German descent and a single family from Afghanistan. Several conserved haplotypes spanning >700 kb appear to converge into a single haplotype near the repeat tract. The common interval that is shared by all families with DM2 immediately flanks the repeat, extending up to 216 kb telomeric and 119 kb centromeric of the CCTG expansion. The DM2 repeat tract contains the complex repeat motif (TG)(n)(TCTG)(n)(CCTG)(n). The CCTG portion of the repeat tract is interrupted on normal alleles, but, as in other expansion disorders, these interruptions are lost on affected alleles. We examined haplotypes of 228 control chromosomes and identified a potential premutation allele with an uninterrupted (CCTG)(20) on a haplotype that was identical to the most common affected haplotype. Our data suggest that the predominant Northern European ancestry of families with DM2 resulted from a common founder and that the loss of interruptions within the CCTG portion of the repeat tract may predispose alleles to further expansion. To gain insight into possible function of the repeat tract, we looked for evolutionary conservation. The complex repeat motif and flanking sequences within intron 1 are conserved among human, chimpanzee, gorilla, mouse, and rat, suggesting a conserved biological function. 相似文献
5.
Crowe JH Tablin F Wolkers WF Gousset K Tsvetkova NM Ricker J 《Chemistry and physics of lipids》2003,122(1-2):41-52
Human blood platelets are normally stored in blood banks for 3-5 days, after which they are discarded. We have launched an effort at developing means for preserving the platelets for long term storage. In previous studies we have shown that trehalose can be used to preserve biological membranes and proteins during drying and have provided evidence concerning the mechanism. A myth has grown up about special properties of trehalose, which we discuss here and clarify some of what is fact and what is misconception. We have found a simple way of introducing this sugar into the cytoplasm of platelets and have successfully freeze-dried the trehalose-loaded platelets, with very promising results. We present evidence that membrane microdomains are maintained intact in the platelets freeze-dried with trehalose. Finally, we propose a possible mechanism by which the microdomains are preserved. 相似文献
6.
Beste DJ Hooper T Stewart G Bonde B Avignone-Rossa C Bushell ME Wheeler P Klamt S Kierzek AM McFadden J 《Genome biology》2007,8(5):R89
Background
An impediment to the rational development of novel drugs against tuberculosis (TB) is a general paucity of knowledge concerning the metabolism of Mycobacterium tuberculosis, particularly during infection. Constraint-based modeling provides a novel approach to investigating microbial metabolism but has not yet been applied to genome-scale modeling of M. tuberculosis. 相似文献7.
JI Priego AG Lucas-Cuevas I Aparicio JV Giménez JM Cortell-Tormo P Pérez-Soriano 《Biology of sport / Institute of Sport》2015,32(3):219-223
The use of graduated compression stockings (GCS) in sport has been increasing in the last years due to their potential positive effects for athletes. However, there is little evidence to support whether these types of garments actually improve cardiorespiratory performance. The aim of this study was to examine the cardiorespiratory responses of GCS during running after three weeks of regular use. Twenty recreational runners performed three tests on different days: test 1) – a 5-min maximal effort run in order to determine the participants’ maximal aerobic speed; and tests 2) and 3) – a fatigue running test of 30 minutes at 80% of their maximal aerobic speed with either GCS or PLACEBO stockings at random. Cardiorespiratory parameters (minute ventilation, heart rate, relative oxygen consumption, relative carbon dioxide production, ventilatory equivalents for oxygen and carbon dioxide, and oxygen pulse) were measured. Before each test in the laboratory, the participants trained with the randomly assigned stockings (GCS or PLACEBO) for three weeks. No significant differences between GCS and PLACEBO were found in any of the cardiorespiratory parameters. In conclusion, the present study provides evidence that running with GCS for three weeks does not influence cardiorespiratory parameters in recreational runners. 相似文献
8.
M Montenegro S Llambí G Castro N Barlocco A Vadell V Landi JV Delgado A Martínez 《Genetics and molecular biology》2015,38(1):48-54
In this study, we genetically characterized the Uruguayan pig breed Pampa Rocha.
Genetic variability was assessed by analyzing a panel of 25 microsatellite markers
from a sample of 39 individuals. Pampa Rocha pigs showed high genetic variability
with observed and expected heterozygosities of 0.583 and 0.603, respectively. The
mean number of alleles was 5.72. Twenty-four markers were polymorphic, with 95.8% of
them in Hardy Weinberg equilibrium. The level of endogamy was low (FIS =
0.0475). A factorial analysis of correspondence was used to assess the genetic
differences between Pampa Rocha and other pig breeds; genetic distances were
calculated, and a tree was designed to reflect the distance matrix. Individuals were
also allocated into clusters. This analysis showed that the Pampa Rocha breed was
separated from the other breeds along the first and second axes. The
neighbour-joining tree generated by the genetic distances DA showed
clustering of Pampa Rocha with the Meishan breed. The allocation of individuals to
clusters showed a clear separation of Pampa Rocha pigs. These results provide
insights into the genetic variability of Pampa Rocha pigs and indicate that this
breed is a well-defined genetic entity. 相似文献
9.
Evidence for selection on synonymous mutations affecting stability of mRNA secondary structure in mammals
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Background
In mammals, contrary to what is usually assumed, recent evidence suggests that synonymous mutations may not be selectively neutral. This position has proven contentious, not least because of the absence of a viable mechanism. Here we test whether synonymous mutations might be under selection owing to their effects on the thermodynamic stability of mRNA, mediated by changes in secondary structure. 相似文献10.