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排序方式: 共有127条查询结果,搜索用时 592 毫秒
31.
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
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Second-generation shRNA libraries covering the mouse and human genomes 总被引:23,自引:0,他引:23
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Zusammenfassung Bei glatter Muskulatur, sowie bei quergestreifter Insektenflugmuskulatur, war eine positive Phasenverschiebung zwischen oszillatorisch verformender Dehnung und dem Zug nachweisbar, die ein Zeichen für Energieproduktion ist. Wenn die positive Phasenverschiebung auftrat, fand sich oft auch eine Erhöhung des Elastizitätsmoduls und sogar eine verlängerte In-vitro-Überlebenszeit der glatten Muskulatur. 相似文献
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Nguyen KD Qiu Y Cui X Goh YP Mwangi J David T Mukundan L Brombacher F Locksley RM Chawla A 《Nature》2011,480(7375):104-108
All homeotherms use thermogenesis to maintain their core body temperature, ensuring that cellular functions and physiological processes can continue in cold environments. In the prevailing model of thermogenesis, when the hypothalamus senses cold temperatures it triggers sympathetic discharge, resulting in the release of noradrenaline in brown adipose tissue and white adipose tissue. Acting via the β(3)-adrenergic receptors, noradrenaline induces lipolysis in white adipocytes, whereas it stimulates the expression of thermogenic genes, such as PPAR-γ coactivator 1a (Ppargc1a), uncoupling protein 1 (Ucp1) and acyl-CoA synthetase long-chain family member 1 (Acsl1), in brown adipocytes. However, the precise nature of all the cell types involved in this efferent loop is not well established. Here we report in mice an unexpected requirement for the interleukin-4 (IL-4)-stimulated program of alternative macrophage activation in adaptive thermogenesis. Exposure to cold temperature rapidly promoted alternative activation of adipose tissue macrophages, which secrete catecholamines to induce thermogenic gene expression in brown adipose tissue and lipolysis in white adipose tissue. Absence of alternatively activated macrophages impaired metabolic adaptations to cold, whereas administration of IL-4 increased thermogenic gene expression, fatty acid mobilization and energy expenditure, all in a macrophage-dependent manner. Thus, we have discovered a role for alternatively activated macrophages in the orchestration of an important mammalian stress response, the response to cold. 相似文献
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Najmabadi H Hu H Garshasbi M Zemojtel T Abedini SS Chen W Hosseini M Behjati F Haas S Jamali P Zecha A Mohseni M Püttmann L Vahid LN Jensen C Moheb LA Bienek M Larti F Mueller I Weissmann R Darvish H Wrogemann K Hadavi V Lipkowitz B Esmaeeli-Nieh S Wieczorek D Kariminejad R Firouzabadi SG Cohen M Fattahi Z Rost I Mojahedi F Hertzberg C Dehghan A Rajab A Banavandi MJ Hoffer J Falah M Musante L Kalscheuer V Ullmann R Kuss AW Tzschach A Kahrizi K Ropers HH 《Nature》2011,478(7367):57-63
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Houck-Loomis B Durney MA Salguero C Shankar N Nagle JM Goff SP D'Souza VM 《Nature》2011,480(7378):561-564
Most retroviruses require translational recoding of a viral messenger RNA stop codon to maintain a precise ratio of structural (Gag) and enzymatic (Pol) proteins during virus assembly. Pol is expressed exclusively as a Gag-Pol fusion either by ribosomal frameshifting or by read-through of the gag stop codon. Both of these mechanisms occur infrequently and only affect 5-10% of translating ribosomes, allowing the virus to maintain the critical Gag to Gag-Pol ratio. Although it is understood that the frequency of the recoding event is regulated by cis RNA motifs, no mechanistic explanation is currently available for how the critical protein ratio is maintained. Here we present the NMR structure of the murine leukaemia virus recoding signal and show that a protonation-dependent switch occurs to induce the active conformation. The equilibrium is such that at physiological pH the active, read-through permissive conformation is populated at approximately 6%: a level that correlates with in vivo protein quantities. The RNA functions by a highly sensitive, chemo-mechanical coupling tuned to ensure an optimal read-through frequency. Similar observations for a frameshifting signal indicate that this novel equilibrium-based mechanism may have a general role in translational recoding. 相似文献
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