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排序方式: 共有143条查询结果,搜索用时 15 毫秒
41.
Qiu Baoli Susan A. Coats Ren Shunxiang Ali M. Idris Xu Caixia Judith K. Brown 《自然科学进展(英文版)》2007,17(6):645-654
Phylogenetic relationships for Bemisia tabaci were reconstructed by analysis of a ~780 bp fragment of the mitochondrial cytochrome oxidase I (mtCOI) gene with an emphasis on geographic range and distribution among eight eudicot plant families that are common hosts of B. tabaci worldwide to elucidate key phylogeographic linkages between populations extant in China (n=31) and India (n=34). Bootstrap values for the Maximum Parsimony tree were highly robust for all major nodes involving the major Asian clade, subgroups, and sister groups within, at 92%—100%. Between-clade distances for the Southeast Asia and three other major clades, e.g. from sub-Sahara Africa, North Africa-Mediterranean, and the Americas, were approximately >16% divergent. Two major Asian subgroups (I, II) were resolved, which represented populations indigenous to the region, comprising two (I a, I b) and five (II a—e) sister groups, respectively, which diverged by 11%. Two distinct populations from sunflower in Hyderabad grouped separately within the two Asian subgroups. All other populations grouped uniquely within Asian subgroup II or I. The "B" biotype was identified in 23 collections from China at 97.3%—99.5% nucleotide identity with "B" biotype reference sequences; it was not identified in collections from India. The majority of haplotypes were associated with 3—4 plant families, with one exception that for sister group IId (sesame, India), it might be monophagous. Thus, B. tabaci from the southeastern and near eastern regions of the Asian continent comprise of a large number of ancestral, richly divergent, mostly polyphagous populations. This region is therefore hypothesized to constitute an important Old World center of diversification for the B. tabaci complex, together with sub-Saharan Africa. 相似文献
42.
Tamara Jefferson Ulrich auf dem Keller Caroline Bellac Verena V. Metz Claudia Broder Jana Hedrich Anke Ohler Wladislaw Maier Viktor Magdolen Erwin Sterchi Judith S. Bond Arumugam Jayakumar Heiko Traupe Athena Chalaris Stefan Rose-John Claus U. Pietrzik Rolf Postina Christopher M. Overall Christoph Becker-Pauly 《Cellular and molecular life sciences : CMLS》2013,70(2):309-333
The in vivo roles of meprin metalloproteases in pathophysiological conditions remain elusive. Substrates define protease roles. Therefore, to identify natural substrates for human meprin α and β we employed TAILS (terminal amine isotopic labeling of substrates), a proteomics approach that enriches for N-terminal peptides of proteins and cleavage fragments. Of the 151 new extracellular substrates we identified, it was notable that ADAM10 (a disintegrin and metalloprotease domain-containing protein 10)—the constitutive α-secretase—is activated by meprin β through cleavage of the propeptide. To validate this cleavage event, we expressed recombinant proADAM10 and after preincubation with meprin β, this resulted in significantly elevated ADAM10 activity. Cellular expression in murine primary fibroblasts confirmed activation. Other novel substrates including extracellular matrix proteins, growth factors and inhibitors were validated by western analyses and enzyme activity assays with Edman sequencing confirming the exact cleavage sites identified by TAILS. Cleavages in vivo were confirmed by comparing wild-type and meprin?/? mice. Our finding of cystatin C, elafin and fetuin-A as substrates and natural inhibitors for meprins reveal new mechanisms in the regulation of protease activity important for understanding pathophysiological processes. 相似文献
43.
Cotton RG; Human Variome Project Appelbe W Auerbach AD Becker K Bodmer W Boone DJ Boulyjenkov V Brahmachari S Brody L Brookes A Brown AF Byers P Cantu JM Cassiman JJ Claustres M Concannon P Cotton RG den Dunnen JT Flicek P Gibbs R Hall J Hasler J Katz M Kwok PY Laradi S Lindblom A Maglott D Marsh S Masimirembwa CM Minoshima S de Ramirez AM Pagon R Ramesar R Ravine D Richards S Rimoin D Ring HZ Scriver CR Sherry S Shimizu N Stein L Tadmouri GO Taylor G Watson M 《Nature genetics》2007,39(4):433-436
Lists of variations in genomic DNA and their effects have been kept for some time and have been used in diagnostics and research. Although these lists have been carefully gathered and curated, there has been little standardization and coordination, complicating their use. Given the myriad possible variations in the estimated 24,000 genes in the human genome, it would be useful to have standard criteria for databases of variation. Incomplete collection and ascertainment of variants demonstrates a need for a universally accessible system. These and other problems led to the World Heath Organization-cosponsored meeting on June 20-23, 2006 in Melbourne, Australia, which launched the Human Variome Project. This meeting addressed all areas of human genetics relevant to collection of information on variation and its effects. Members of each of eight sessions (the clinic and phenotype, the diagnostic laboratory, the research laboratory, curation and collection, informatics, relevance to the emerging world, integration and federation and funding and sustainability) developed a number of recommendations that were then organized into a total of 96 recommendations to act as a foundation for future work worldwide. Here we summarize the background of the project, the meeting and its recommendations. 相似文献
44.
Fischer J Lefèvre C Morava E Mussini JM Laforêt P Negre-Salvayre A Lathrop M Salvayre R 《Nature genetics》2007,39(1):28-30
Neutral lipid storage disease comprises a heterogeneous group of autosomal recessive disorders characterized by systemic accumulation of triglycerides in cytoplasmic droplets. Here we report a neutral lipid storage disease subgroup characterized by mild myopathy, absence of ichthyosis and mutations in both alleles of adipose triglyceride lipase (PNPLA2, also known as ATGL). Three of these mutations are predicted to lead to a truncated ATGL protein with an intact patatin domain containing the active site, but with defects in the hydrophobic domain. The block in triglyceride degradation was mimicked by short interfering RNA directed against ATGL. NLSDM is distinct from Chanarin-Dorfman syndrome, which is characterized by neutral lipid storage disease with ichthyosis, mild myopathy and hepatomegaly due to mutations in ABHD5 (also known as CGI-58). 相似文献
45.
Pansuriya TC van Eijk R d'Adamo P van Ruler MA Kuijjer ML Oosting J Cleton-Jansen AM van Oosterwijk JG Verbeke SL Meijer D van Wezel T Nord KH Sangiorgi L Toker B Liegl-Atzwanger B San-Julian M Sciot R Limaye N Kindblom LG Daugaard S Godfraind C Boon LM Vikkula M Kurek KC Szuhai K French PJ Bovée JV 《Nature genetics》2011,43(12):1256-1261
Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier disease) combined with spindle cell hemangiomas (Maffucci syndrome). We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. Fourteen of 16 subjects had identical mutations in separate lesions. Immunohistochemistry to detect mutant IDH1 R132H protein suggested intraneoplastic and somatic mosaicism. IDH1 mutations in cartilage tumors were associated with hypermethylation and downregulated expression of several genes. Mutations were also found in 40% of solitary central cartilaginous tumors and in four chondrosarcoma cell lines, which will enable functional studies to assess the role of IDH1 and IDH2 mutations in tumor formation. 相似文献
46.
Höglinger GU Melhem NM Dickson DW Sleiman PM Wang LS Klei L Rademakers R de Silva R Litvan I Riley DE van Swieten JC Heutink P Wszolek ZK Uitti RJ Vandrovcova J Hurtig HI Gross RG Maetzler W Goldwurm S Tolosa E Borroni B Pastor P;PSP Genetics Study Group Cantwell LB Han MR Dillman A van der Brug MP Gibbs JR Cookson MR Hernandez DG Singleton AB Farrer MJ Yu CE Golbe LI Revesz T Hardy J Lees AJ Devlin B Hakonarson H Müller U Schellenberg GD 《Nature genetics》2011,43(7):699-705
Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP (cases) and 3,247 controls (stage 1) followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the stage 1 SNPs that yielded P ≤ 10(-3). We found significant previously unidentified signals (P < 5 × 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component. 相似文献
47.
Hoischen A van Bon BW Rodríguez-Santiago B Gilissen C Vissers LE de Vries P Janssen I van Lier B Hastings R Smithson SF Newbury-Ecob R Kjaergaard S Goodship J McGowan R Bartholdi D Rauch A Peippo M Cobben JM Wieczorek D Gillessen-Kaesbach G Veltman JA Brunner HG de Vries BB 《Nature genetics》2011,43(8):729-731
Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous. 相似文献
48.
49.
Integrated genomic approaches implicate osteoglycin (Ogn) in the regulation of left ventricular mass
50.
Brown KM Macgregor S Montgomery GW Craig DW Zhao ZZ Iyadurai K Henders AK Homer N Campbell MJ Stark M Thomas S Schmid H Holland EA Gillanders EM Duffy DL Maskiell JA Jetann J Ferguson M Stephan DA Cust AE Whiteman D Green A Olsson H Puig S Ghiorzo P Hansson J Demenais F Goldstein AM Gruis NA Elder DE Bishop JN Kefford RF Giles GG Armstrong BK Aitken JF Hopper JL Martin NG Trent JM Mann GJ Hayward NK 《Nature genetics》2008,40(7):838-840
We conducted a genome-wide association pooling study for cutaneous melanoma and performed validation in samples totaling 2,019 cases and 2,105 controls. Using pooling, we identified a new melanoma risk locus on chromosome 20 (rs910873 and rs1885120), with replication in two further samples (combined P < 1 x 10(-15)). The per allele odds ratio was 1.75 (1.53, 2.01), with evidence for stronger association in early-onset cases. 相似文献