排序方式: 共有23条查询结果,搜索用时 15 毫秒
1.
Wright FA Strug LJ Doshi VK Commander CW Blackman SM Sun L Berthiaume Y Cutler D Cojocaru A Collaco JM Corey M Dorfman R Goddard K Green D Kent JW Lange EM Lee S Li W Luo J Mayhew GM Naughton KM Pace RG Paré P Rommens JM Sandford A Stonebraker JR Sun W Taylor C Vanscoy LL Zou F Blangero J Zielenski J O'Neal WK Drumm ML Durie PR Knowles MR Cutting GR 《Nature genetics》2011,43(6):539-546
A combined genome-wide association and linkage study was used to identify loci causing variation in cystic fibrosis lung disease severity. We identified a significant association (P = 3.34 × 10(-8)) near EHF and APIP (chr11p13) in p.Phe508del homozygotes (n = 1,978). The association replicated in p.Phe508del homozygotes (P = 0.006) from a separate family based study (n = 557), with P = 1.49 × 10(-9) for the three-study joint meta-analysis. Linkage analysis of 486 sibling pairs from the family based study identified a significant quantitative trait locus on chromosome 20q13.2 (log(10) odds = 5.03). Our findings provide insight into the causes of variation in lung disease severity in cystic fibrosis and suggest new therapeutic targets for this life-limiting disorder. 相似文献
2.
Nonspecific reaction of a thiol:Protein disulfide oxidoreductase with the disulfide bonds of insulin
M. Pace P. G. Pietta A. Fiorino E. Pocaterra J. E. Dixon 《Cellular and molecular life sciences : CMLS》1985,41(10):1332-1335
Summary A thiol:protein disulfide oxidoreductase from bovine liver was isolated after separation from protein disulfide isomerase. The enzyme, after activation (reduction) with glutathione, was reacted with stoichiometric amounts of insulin and the sulfhydryl groups of the partially reduced hormone were labeled with iodo (l-14C)acetamide. After separation of the insulin chains, the radioactivity was found in both the peptides, with a ratio A-chain/B-chain equal to 2/1. 相似文献
3.
GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours 总被引:50,自引:0,他引:50
A subset of growth hormone-secreting human pituitary tumours carries somatic mutations that inhibit GTPase activity of a G protein alpha chain, alpha(s). The resulting activation of adenylyl cyclase bypasses the cells' normal requirement for trophic hormone. Amino acids substituted in the putative gsp oncogene identify a domain of G protein alpha-chains required for intrinsic ability to hydrolyse GTP. This domain may serve as a built-in counter-part of the separate GTPase-activating proteins required for GTP hydrolysis by small GTP-binding proteins such as p21ras. 相似文献
4.
Riassunto L'azione della diidrochinidina sulle fosforilazioni ossidative e sul contenuto di potassio nei mitocondri di cuore di coniglio è stata studiata con tecnica manometrica. Si osserva che tale sostanza deprime ma non dissocia la fornitura ossidativa del fosforo inorganico e che determina un aumento del contenuto di potassio nei mitocondri. Tale dato concorda con i risultati degli studi sul meccanismo d'azione della chinidina e suggerisce che questa sostanza provochi una ritenzione di potassio anche nei mitocondri oltre che nella cellula integra. 相似文献
5.
6.
A thiol: protein disulfide oxidoreductase from bovine liver was isolated after separation from protein disulfide isomerase. The enzyme, after activation (reduction) with glutathione, was reacted with stoichiometric amounts of insulin and the sulfhydryl groups of the partially reduced hormone were labeled with iodo (l-14C)acetamide. After separation of the insulin chains, the radioactivity was found in both the peptides, with a ratio A-chain/B-chain equal to 2/1. 相似文献
7.
Donald W. de Guerre Daniel Séguin Alicia Pace Noel Burke 《Systemic Practice and Action Research》2013,26(3):257-279
This paper describes an innovative and successful 1-year organization change process. It captures a design-based inquiry that simultaneously applies creative, purposeful, and systemic thinking to a complex set of issues. Three significant findings result from this research. First, this paper discusses how the change process created the necessary and sufficient conditions allowing for the creation of an innovative organizational design that embeds both optimization and innovation. Second, Design Thinking was used to develop a 2-day participative design process we have called IDEA, an acronym for integrating innovation, design, engagement, and action. We believe that the IDEA organizational design process is replicable. Third, it describes an emergent and co-created change process. This paper concludes by raising questions for future transformative organizational design efforts. 相似文献
8.
9.
10.