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排序方式: 共有1059条查询结果,搜索用时 102 毫秒
1.
Shigeaki Nonoyama Mitsunobu Shimadzu Hano Toru Kuniaki Seyama Hiroyuki Nunoi Michael Neubauer Jun-ichi Yata Hans D. Ochs 《Human genetics》1997,99(5):624-627
X-linked hyper-IgM syndrome (XHIM) is a rare primary immunodeficiency caused by a defective CD40 ligand. We identified mutations
of the CD40 ligand gene in 13 unrelated Japanese XHIM patients. Of the four patients with missense mutations, one had a mutation
within the transmembrane domain, and the three others had mutations affecting the TNF homology region of the extracellular
domain. Two of the missense mutations resulted in the substitution of amino acids that are highly conserved in TNF family
proteins. Three patients had nonsense mutations, all of which resulted in the truncation of the TNF homology domain of the
CD40 ligand. Three patients had genomic DNA deletions of 2, 3 or 4 nucleotides, respectively. All of the deletions were flanked
by direct repeat sequences, suggesting that these deletions were caused by slipped mispairing. Three patients had mutations
within introns resulting in altered splicing, and multiple splicing products were found in one patient. Thus, each of the
13 Japanese patients had different mutations, 9 of them being novel mutations. These results indicate that mutations in XHIM
are highly heterogeneous, although codon 140 seems to be a hot spot of the CD40 ligand gene since two additional point mutations
were located at Trp 140, bringing the total numbers of mutations affecting codon 140 to six. In one XHIM family with a missense
mutation, prenatal diagnosis was performed by single-strand conformation polymorphism analysis of genomic DNA of a male fetus.
Received: 20 August 1996 相似文献
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3.
Tatsuya Matsunami Toshihiro Suzuki Yasuo Hisa Kuniaki Takata Tetsuro Takamatsu Masahito Oyamada 《Cell communication & adhesion》2006,13(1):93-102
To elucidate the role of the spiral limbus in glucose transport in the cochlea, we analyzed the expression and localization of GLUT1, connexin26, connexin30, and occludin in the spiral limbus of the rat cochlea. GLUT1 and occludin were detected in blood vessels. GLUT1, connexin26, connexin30, and occludin were also expressed in fibrocytes just basal to the supralimbal lining cells. Connexin26 and connexin30 were present among not only these GLUT1-positive fibrocytes but also GLUT1-negative fibrocytes. In vivo glucose imaging using 6-[N-(7-nitrobenz-2-oxa-1,3-diazol-4-yl)amino]-6-deoxyglucose (6-NBDG, MW 342) together with Evans Blue Albumin (EBA, MW 68,000) showed that 6-NBDG was rapidly distributed throughout the spiral limbus, whereas EBA was localized only in the vessels. Moreover, the gap junctional uncoupler heptanol inhibited the distribution of 6-NBDG. These findings suggest that gap junctions play an important role in glucose transport in the spiral limbus, i.e., that gap junctions mediate glucose transport from GLUT1-positive fibrocytes to GLUT1-negative fibrocytes in the spiral limbus. 相似文献
4.
We examined whether actin filaments are involved in the cAMP-dependent activation of a high affinity sodium/glucose cotransporter (SGLT1) using epithelial expression systems. The expression of enhanced green fluorescent protein-tagged SGLT1 (EGFP-SGLT1) in Madin-Darby canine kidney (MDCK) cells was revealed by Western blotting and confocal laser microscopy. 8-Br-cAMP, a membrane permeable cAMP analog, enhanced [14C]-α-methyl glucopyranoside ([14C]-AMG) uptake. Both basal and 8-Br-cAMP-elicited [14C]-AMG uptakes were inhibited by N-(2{[3-(4-bromophenyl)-2-propenyl]-amino}-ethyl)-5-isoquinolinesulfonamide (H-89), a protein kinase A inhibitor, and cytochalasin D, an actin filament formation inhibitor. Furthermore, cytochalasin D inhibited the distribution of EGFP-SGLT1 at the apical surface. These results suggest that the EGFP-SGLT1 protein is functionally expressed in the apical membrane of MDCK cells, and is up-regulated by a cAMP-dependent pathway requiring intact actin filaments. 相似文献
5.
Due to accidental introductions, the distribution of the east Asian topmouth gudgeon, Pseudorasbora parva, has rapidly expanded over recent years, thereby threatening the endangered Japanese species, P. pumila pumila. Sixteen microsatellite loci were isolated and characterized for P. parva, 14 being highly polymorphic (mean HE = 0.58, mean number of alleles = 4.4). Successful characterization of 10 of these loci was also achieved for P. pumila pumila. These markers should be useful in future investigation of colonization of P. parva and the development of conservation strategies for P. pumila pumila. 相似文献
6.
Keisuke Takata Masaharu Hoshino Wichian Magtoon Nivesh Nadee Hiroshi Uwa 《Ichthyological Research》1993,39(4):319-327
An allozyme survey was conducted in eleven local populations ofOryzias minutillus from Thailand. The region-specific distribution of alleles and the genetic relationship among the eleven populations revealed that they represented major three population groups, within the country as a whole; the Peninsular, Mae Nam Chao Phraya and Mekong subpopulations. Because their distribution boundaries coincide with geographic features, it is supposed that their genetic differentiation is primarily due to geographic isolation. Karyotype polymorphism has been reported only from the Mae Nam Chao Phraya subpopulation, suggesting that the variant karyotype evolved after allopatric isolation of the three subpopulations. 相似文献
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8.
The Clark model for melanoma progression emphasizes a series of histopathological changes beginning from benign melanocytic nevus to melanoma via dysplastic nevus. Several models of the genetic basis of melanoma development and progression are based on this Clark’s multi-step model, and predict that the acquisition of a BRAF mutation can be a founder event in melanocytic neoplasia. However, our recent investigations have challenged this view, showing the polyclonality of BRAF mutations in melanocytic nevi. Furthermore, it is suggested that many melanomas, including acral and mucosal melanomas, arise de novo, not from melanocytic nevus. While mutations of the BRAF gene are frequent in melanomas on non-chronic sun damaged skin which are prevalent in Caucasians, acral and mucosal melanomas harbor mutations of the KIT gene as well as the amplifications of cyclin D1 or cyclin-dependent kinase 4 gene. Amplifications of the cyclin D1 gene are detected in normal-looking ‘field melanocytes’, which represent a latent progression phase of acral melanoma that precedes the stage of atypical melanocyte proliferation in the epidermis. Based on these observations, we propose an alternative genetic progression model for melanoma. 相似文献
9.
Kunisawa Kazuo Shan Jiajing Lu Qiaohui Yang Yang Kosuge Aika Kurahashi Hitomi Saito Kuniaki Zou Libo Nabeshima Toshitaka Mouri Akihiro 《Neurochemical research》2022,47(9):2880-2889
Neurochemical Research - Major depressive disorder (MDD) is the most prevalent and serious psychiatric disease involving inflammation. Loureirin C and Xanthoceraside are extracts of dragon’s... 相似文献
10.
Yusuke Kawazoe Mutsumi Miyauchi Atsuhiro Nagasaki Hisako Furusho Syunryo Yanagisawa Chea Chanbora Toshihiro Inubushi Hideyuki Hyogo Takashi Nakamoto Keiko Suzuki Sawako Moriwaki Susumu Tazuma Shumpei Niida Takashi Takata 《PloS one》2015,10(9)