全文获取类型
收费全文 | 100篇 |
免费 | 0篇 |
专业分类
现状及发展 | 22篇 |
研究方法 | 13篇 |
综合类 | 61篇 |
自然研究 | 4篇 |
出版年
2018年 | 2篇 |
2013年 | 2篇 |
2012年 | 5篇 |
2011年 | 11篇 |
2010年 | 1篇 |
2008年 | 6篇 |
2007年 | 6篇 |
2006年 | 2篇 |
2005年 | 4篇 |
2004年 | 2篇 |
2003年 | 1篇 |
2002年 | 4篇 |
2001年 | 11篇 |
2000年 | 2篇 |
1999年 | 1篇 |
1998年 | 1篇 |
1996年 | 1篇 |
1992年 | 1篇 |
1989年 | 1篇 |
1988年 | 1篇 |
1986年 | 3篇 |
1985年 | 1篇 |
1984年 | 2篇 |
1982年 | 1篇 |
1979年 | 1篇 |
1978年 | 2篇 |
1977年 | 3篇 |
1976年 | 2篇 |
1975年 | 2篇 |
1972年 | 3篇 |
1971年 | 1篇 |
1970年 | 2篇 |
1969年 | 1篇 |
1968年 | 4篇 |
1967年 | 2篇 |
1965年 | 3篇 |
1960年 | 1篇 |
1957年 | 1篇 |
排序方式: 共有100条查询结果,搜索用时 15 毫秒
61.
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
Astuti D Morris MR Cooper WN Staals RH Wake NC Fews GA Gill H Gentle D Shuib S Ricketts CJ Cole T van Essen AJ van Lingen RA Neri G Opitz JM Rump P Stolte-Dijkstra I Müller F Pruijn GJ Latif F Maher ER 《Nature genetics》2012,44(3):277-284
Perlman syndrome is a congenital overgrowth syndrome inherited in an autosomal recessive manner that is associated with Wilms tumor susceptibility. We mapped a previously unknown susceptibility locus to 2q37.1 and identified germline mutations in DIS3L2, a homolog of the Schizosaccharomyces pombe dis3 gene, in individuals with Perlman syndrome. Yeast dis3 mutant strains have mitotic abnormalities. Yeast Dis3 and its human homologs, DIS3 and DIS3L1, have exoribonuclease activity and bind to the core RNA exosome complex. DIS3L2 has a different intracellular localization and lacks the PIN domain found in DIS3 and DIS3L1; nevertheless, we show that DIS3L2 has exonuclease activity. DIS3L2 inactivation was associated with mitotic abnormalities and altered expression of mitotic checkpoint proteins. DIS3L2 overexpression suppressed the growth of human cancer cell lines, and knockdown enhanced the growth of these cells. We also detected evidence of DIS3L2 mutations in sporadic Wilms tumor. These observations suggest that DIS3L2 has a critical role in RNA metabolism and is essential for the regulation of cell growth and division. 相似文献
62.
63.
Tarpey PS Raymond FL Nguyen LS Rodriguez J Hackett A Vandeleur L Smith R Shoubridge C Edkins S Stevens C O'Meara S Tofts C Barthorpe S Buck G Cole J Halliday K Hills K Jones D Mironenko T Perry J Varian J West S Widaa S Teague J Dicks E Butler A Menzies A Richardson D Jenkinson A Shepherd R Raine K Moon J Luo Y Parnau J Bhat SS Gardner A Corbett M Brooks D Thomas P Parkinson-Lawrence E Porteous ME Warner JP Sanderson T Pearson P Simensen RJ Skinner C Hoganson G Superneau D Wooster R Bobrow M 《Nature genetics》2007,39(9):1127-1133
64.
In many organisms, developmentally programmed double-strand breaks (DSBs) formed by the SPO11 transesterase initiate meiotic recombination, which promotes pairing and segregation of homologous chromosomes. Because every chromosome must receive a minimum number of DSBs, attention has focused on factors that support DSB formation. However, improperly repaired DSBs can cause meiotic arrest or mutation; thus, having too many DSBs is probably as deleterious as having too few. Only a small fraction of SPO11 protein ever makes a DSB in yeast or mouse and SPO11 and its accessory factors remain abundant long after most DSB formation ceases, implying the existence of mechanisms that restrain SPO11 activity to limit DSB numbers. Here we report that the number of meiotic DSBs in mouse is controlled by ATM, a kinase activated by DNA damage to trigger checkpoint signalling and promote DSB repair. Levels of SPO11-oligonucleotide complexes, by-products of meiotic DSB formation, are elevated at least tenfold in spermatocytes lacking ATM. Moreover, Atm mutation renders SPO11-oligonucleotide levels sensitive to genetic manipulations that modulate SPO11 protein levels. We propose that ATM restrains SPO11 via a negative feedback loop in which kinase activation by DSBs suppresses further DSB formation. Our findings explain previously puzzling phenotypes of Atm-null mice and provide a molecular basis for the gonadal dysgenesis observed in ataxia telangiectasia, the human syndrome caused by ATM deficiency. 相似文献
65.
Ants of 22 species were collected in can pit-traps from 16 different vegetative associations to determine distribution, seasonal and annual occurrence, and population as bases for monitoring environmental impact. Thirteen species were sufficiently abundant and distributed to qualify as indicator species. Myrmecocystus mexicanus was the most widespread ecologically. Pogonomyrmex occidentalis was the most abundant species, but second in ecological distribution. The greatest number of species was found in the juniper- Ephedra -grass association, and the fewest species in Ephredra-Coleogyne-Grayia. 相似文献
66.
Imidazole pyruvate was found to be a very potent natural chelating agent in reversing the inhibition of liver fructose 1,6-bisphosphatase activity by Zn2+. This metabolite may play a physiological role in gluconeogenesis. 相似文献
67.
68.
Amino acid sequence of Cro regulatory protein of bacteriophage lambda 总被引:18,自引:0,他引:18
69.
70.
MA Deardorff M Bando R Nakato E Watrin T Itoh M Minamino K Saitoh M Komata Y Katou D Clark KE Cole E De Baere C Decroos N Di Donato S Ernst LJ Francey Y Gyftodimou K Hirashima M Hullings Y Ishikawa C Jaulin M Kaur T Kiyono PM Lombardi L Magnaghi-Jaulin GR Mortier N Nozaki MB Petersen H Seimiya VM Siu Y Suzuki K Takagaki JJ Wilde PJ Willems C Prigent G Gillessen-Kaesbach DW Christianson FJ Kaiser LG Jackson T Hirota ID Krantz K Shirahige 《Nature》2012,489(7415):313-317