全文获取类型
收费全文 | 105篇 |
免费 | 16篇 |
专业分类
121篇 |
出版年
2022年 | 1篇 |
2021年 | 1篇 |
2019年 | 1篇 |
2015年 | 4篇 |
2014年 | 5篇 |
2013年 | 5篇 |
2012年 | 6篇 |
2011年 | 2篇 |
2010年 | 6篇 |
2009年 | 8篇 |
2008年 | 6篇 |
2007年 | 6篇 |
2006年 | 2篇 |
2005年 | 6篇 |
2004年 | 5篇 |
2003年 | 3篇 |
2002年 | 2篇 |
2001年 | 3篇 |
2000年 | 5篇 |
1999年 | 3篇 |
1998年 | 6篇 |
1997年 | 2篇 |
1996年 | 2篇 |
1995年 | 3篇 |
1994年 | 1篇 |
1992年 | 3篇 |
1991年 | 3篇 |
1989年 | 5篇 |
1988年 | 4篇 |
1986年 | 1篇 |
1985年 | 1篇 |
1983年 | 3篇 |
1982年 | 1篇 |
1981年 | 1篇 |
1980年 | 1篇 |
1979年 | 2篇 |
1978年 | 1篇 |
1977年 | 1篇 |
排序方式: 共有121条查询结果,搜索用时 15 毫秒
51.
52.
Background
Although the gene encoding for glutamine synthetase (gln A) is essential in several organisms, multiple glnA copies have been identified in bacterial genomes such as those of the phylum Actinobacteria, notably the mycobacterial species. Intriguingly, previous reports have shown that only one copy (gln A1) is essential for growth in M. tuberculosis, while the other copies (gln A2, gln A3 and gln A4) are not. 相似文献53.
C Oliveira LM Vera JF López-Olmeda JM Guzmán E Ma?anós J Ramos FJ Sánchez-Vázquez 《Comparative biochemistry and physiology. Part A, Molecular & integrative physiology》2009,152(2):168-175
In this paper we attempted to investigate the existence of daily fluctuations on plasma sexual steroids (17beta-estradiol, E(2) and testosterone, T) in Senegal sole (Solea senegalensis) females. We described the monthly day/night concentrations and seasonal daily rhythms in animals reared under natural photo- and thermo-period. In addition, the influence of the natural annual fluctuation of the water temperature on the plasma concentration of these steroids was investigated, using one group of Senegal sole under a natural photoperiod, but with an attenuated thermal cycle (around 17-20 degrees C) for one year. Although no significant day/night differences were detected in monthly samplings, the existence of an annual rhythm of E(2) and T (p<0.01) with an acrophase in February was revealed by COSINOR analysis. Maximum values were reached in March for both steroids (6.1+/-1.7 ng mL(-1) at mid-dark, MD and 4.0+/-0.6 ng mL(-1) at mid-light, ML for E2 and 1.4+/-0.4 ng mL(-1) at MD and 0.8+/-0.1 ng mL(-1) at ML for T) in anticipation of the spawning season (May-June). As regards seasonal daily rhythms, the presence of daily oscillations was revealed. At the spring solstice (21st March) a daily rhythm was observed for both steroids (COSINOR, p<0.01), with an acrophase at 20:00 h (E(2)) and at 21:08 h (T). In summer, autumn and winter no daily rhythms were observed due to the low steroid levels at those seasons. When Senegal sole females were submitted to an attenuated annual thermal cycle, the steroid rhythm disappeared (there was no surge in spring, as in the control group) and these fish did not spawn, despite being subjected to natural photoperiod conditions. This result underlined the importance of the natural annual fluctuation of water temperature and photoperiod on the synchronization of the spawning season and on the onset of steroidogenesis. 相似文献
54.
55.
A genome wide scan in a consanguineous family of Indian origin with autosomal recessive developmental cataracts was performed
by two-point linkage analysis with 382 microsatellite markers. It showed linkage to markers on chromosome 20q, between D20S852
and D20S912, with a maximum lod score of 5.4 obtained with D20S860. This region encompasses the beaded filament structural
protein 1 (BFSP1) gene. Direct sequencing revealed a 3343 bp deletion including exon 6 (c.736-1384_c.957-66 del) predicted to result in a shift
of the open reading frame. This mutation was absent in 50 control individuals from south India. This is the first report of
a mutation in the BFSP1 gene associated with human inherited cataracts. This further increases the genetic heterogeneity of inherited cataracts and
provides clues as to the importance of BFSP1 in the cell biology of intermediate filaments and their role in the eye lens. 相似文献
56.
Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy 下载免费PDF全文
Li S Tiab L Jiao X Munier FL Zografos L Frueh BE Sergeev Y Smith J Rubin B Meallet MA Forster RK Hejtmancik JF Schorderet DF 《American journal of human genetics》2005,77(1):54-63
Fran?ois-Neetens fleck corneal dystrophy (CFD) is a rare, autosomal dominant corneal dystrophy characterized by numerous small white flecks scattered in all layers of the stroma. Linkage analysis localized CFD to a 24-cM (18-Mb) interval of chromosome 2q35 flanked by D2S2289 and D2S126 and containing PIP5K3. PIP5K3 is a member of the phosphoinositide 3-kinase family and regulates the sorting and traffic of peripheral endosomes that contain lysosomally directed fluid phase cargo, by controlling the morphogenesis and function of multivesicular bodies. Sequencing analysis disclosed missense, frameshift, and/or protein-truncating mutations in 8 of 10 families with CFD that were studied, including 2256delA, 2274delCT, 2709C-->T (R851X), 3120C-->T (Q988X), IVS19-1G-->C, 3246G-->T (E1030X), 3270C-->T (R1038X), and 3466A-->G (K1103R). The histological and clinical characteristics of patients with CFD are consistent with biochemical studies of PIP5K3 that indicate a role in endosomal sorting. 相似文献
57.
Symptoms consistent with cardiac disease have been noted as part of the syndrome of lead (Pb) intoxication. All types of cardiotoxicity noted in patients have been reproduced in experimental animals exposed acutely to high concentrations of Pb, or chronically exposed to lower levels. Types of cardiac effects observed include negative inotropism and electrocardiogram abnormalities, particularly conduction defects. Neonatal rats exposed to Pb via the milk of dams provided a drinking solution of lead acetate exhibit approximately four times the sensitivity to the arrhythmogenic effect of norepinephrine as adults compared with controls. Cardiotoxicity occurs after exposure as short as the first 10 postnatal days, but is not expressed until the rats are adult. Increased sensitivity to the arrhythmogenic effect of norepinephrine was seen in Pb-exposed animals in vivo and in isolated hearts from Pb-exposed animals in vitro. Norepinephrine arrhythmogenesis in vivo was attenuated by atropine or vagotomy, which indicates vagal nerve involvement. Possible mechanisms including interference with central gamma-aminobutyric acid systems, alteration of adrenergic nerve development, and Pb-Ca interaction are discussed. 相似文献
58.
59.
Phylogeny of some Fusarium species, as determined by large-subunit rRNA sequence comparison 总被引:16,自引:0,他引:16
Fifty-two strains from eight species of Fusarium were analyzed by rapid
rRNA sequencing. Two highly variable stretches (138 and 214 nucleotides) of
the 5' end of the 28S-like rRNA molecule were sequenced. Such stretches
permit evaluation of the divergence between closely related species and
even between varieties within a species. The phylogenetic tree computed
from the number of nucleotide differences shows seven Fusarium species to
be more closely related to one another than the eighth species, F. nivale,
is to them. On the basis of these data, we discuss both the phylogenetic
value of taxonomical criteria and the impact of our findings on the
demarcation of the genus Fusarium. We conclude that this method is suitable
for establishing a precise phylogeny between closely related species within
a genus.
相似文献
60.
Congenital cataracts and their molecular genetics 总被引:1,自引:0,他引:1
Hejtmancik JF 《Seminars in cell & developmental biology》2008,19(2):134-149
Cataract can be defined as any opacity of the crystalline lens. Congenital cataract is particularly serious because it has the potential for inhibiting visual development, resulting in permanent blindness. Inherited cataracts represent a major contribution to congenital cataracts, especially in developed countries. While cataract represents a common end stage of mutations in a potentially large number of genes acting through varied mechanisms in practice most inherited cataracts have been associated with a subgroup of genes encoding proteins of particular importance for the maintenance of lens transparency and homeostasis. The increasing availability of more detailed information about these proteins and their functions and is making it possible to understand the pathophysiology of cataracts and the biology of the lens in general. 相似文献