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排序方式: 共有51条查询结果,搜索用时 218 毫秒
41.
Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy 总被引:17,自引:0,他引:17
Ali RR Sarra GM Stephens C Alwis MD Bainbridge JW Munro PM Fauser S Reichel MB Kinnon C Hunt DM Bhattacharya SS Thrasher AJ 《Nature genetics》2000,25(3):306-310
The gene Prph2 encodes a photoreceptor-specific membrane glycoprotein, peripherin-2 (also known as peripherin/rds), which is inserted into the rims of photoreceptor outer segment discs in a complex with rom-1 (ref. 2). The complex is necessary for the stabilization of the discs, which are renewed constantly throughout life, and which contain the visual pigments necessary for photon capture. Mutations in Prph2 have been shown to result in a variety of photoreceptor dystrophies, including autosomal dominant retinitis pigmentosa and macular dystrophy. A common feature of these diseases is the loss of photoreceptor function, also seen in the retinal degeneration slow (rds or Prph2 Rd2/Rd2) mouse, which is homozygous for a null mutation in Prph2. It is characterized by a complete failure to develop photoreceptor discs and outer segments, downregulation of rhodopsin and apoptotic loss of photoreceptor cells. The electroretinograms (ERGs) of Prph2Rd2/Rd2 mice have greatly diminished a-wave and b-wave amplitudes, which decline to virtually undetectable concentrations by two months. Subretinal injection of recombinant adeno-associated virus (AAV) encoding a Prph2 transgene results in stable generation of outer segment structures and formation of new stacks of discs containing both perpherin-2 and rhodopsin, which in many cases are morphologically similar to normal outer segments. Moreover, the re-establishment of the structural integrity of the photoreceptor layer also results in electrophysiological correction. These studies demonstrate for the first time that a complex ultrastructural cell defect can be corrected both morphologically and functionally by in vivo gene transfer. 相似文献
42.
Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q 总被引:24,自引:0,他引:24
Human inherited cataract is both clinically diverse and genetically heterogeneous. Here we report the identification of the first mutations affecting the major intrinsic protein of the lens, MIP, encoded by the gene MIP on 12q14. MIP is a member of the aquaporin family of membrane-bound water channels. The mutations identified are predicted to disturb water flux across the lens cell membrane. 相似文献
43.
MJ Falk Q Zhang E Nakamaru-Ogiso C Kannabiran Z Fonseca-Kelly C Chakarova I Audo DS Mackay C Zeitz AD Borman M Staniszewska R Shukla L Palavalli S Mohand-Said NH Waseem S Jalali JC Perin E Place J Ostrovsky R Xiao SS Bhattacharya M Consugar AR Webster JA Sahel AT Moore EL Berson Q Liu X Gai EA Pierce 《Nature genetics》2012,44(9):1040-1045
Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss. Two-thirds of LCA cases are caused by mutations in 17 known disease-associated genes (Retinal Information Network (RetNet)). Using exome sequencing we identified a homozygous missense mutation (c.25G>A, p.Val9Met) in NMNAT1 that is likely to be disease causing in two siblings of a consanguineous Pakistani kindred affected by LCA. This mutation segregated with disease in the kindred, including in three other children with LCA. NMNAT1 resides in the previously identified LCA9 locus and encodes the nuclear isoform of nicotinamide mononucleotide adenylyltransferase, a rate-limiting enzyme in nicotinamide adenine dinucleotide (NAD(+)) biosynthesis. Functional studies showed that the p.Val9Met alteration decreased NMNAT1 enzyme activity. Sequencing NMNAT1 in 284 unrelated families with LCA identified 14 rare mutations in 13 additional affected individuals. These results are the first to link an NMNAT isoform to disease in humans and indicate that NMNAT1 mutations cause LCA. 相似文献
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Sheila Bhattacharya N. C. Bhattacharya K. K. Nanda 《Cellular and molecular life sciences : CMLS》1976,32(10):1301-1303
Summary Exogenously supplied DNA and RNA hastened root initiation and also increased the formation of roots on hypocotyl cuttings ofImpatients balsamina with intact apex and cotyledons. IAA appreciably increased the nucleic acid-caused enhancement in root formation. In combination with lowe concentrations of nucleic acids, it event stimulated the growth of roots as well as of hypocotyls. Higher concentrations of nucleic acids were, however, toxic.The research has been partly financed by a grant from the United States Department of Agriculture. One of us (SB) is thankful to the Deparmtent of Atomic Engery of the Government of India for financial assistance. 相似文献
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Bessant DA Payne AM Mitton KP Wang QL Swain PK Plant C Bird AC Zack DJ Swaroop A Bhattacharya SS 《Nature genetics》1999,21(4):355-356
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Enzymes of non-agglutinable vibrios and their possible role in the development of enterotoxic factor
B. Guhathakurta S. Bhattacharya G. C. Datta A. K. Ghosh 《Cellular and molecular life sciences : CMLS》1973,29(7):903-904
Résumé Sachant que le facteur entérotoxique peut être développé dans les vibrions non-agglutinables par transfer animal, nous avons déterminé les activités enzymatiques (mucinase, protéase, lécithinase) de ces vibrions. Après ce transfert l'activité lécithinasique a augmenté, et cette activité est semblable à celle d'un virus (V. cholerae). Nous supposons que l'augmentation du facteur entérotoxique est causée par celle de l'activité de la lécithinase.
Thanks are due to Dr.A. Mondal for help and Mr.Manzar Alam for his secretarial assistance. 相似文献
Thanks are due to Dr.A. Mondal for help and Mr.Manzar Alam for his secretarial assistance. 相似文献
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