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McGowan KA Li JZ Park CY Beaudry V Tabor HK Sabnis AJ Zhang W Fuchs H de Angelis MH Myers RM Attardi LD Barsh GS 《Nature genetics》2008,40(8):963-970
Mutations in genes encoding ribosomal proteins cause the Minute phenotype in Drosophila and mice, and Diamond-Blackfan syndrome in humans. Here we report two mouse dark skin (Dsk) loci caused by mutations in Rps19 (ribosomal protein S19) and Rps20 (ribosomal protein S20). We identify a common pathophysiologic program in which p53 stabilization stimulates Kit ligand expression, and, consequently, epidermal melanocytosis via a paracrine mechanism. Accumulation of p53 also causes reduced body size and erythrocyte count. These results provide a mechanistic explanation for the diverse collection of phenotypes that accompany reduced dosage of genes encoding ribosomal proteins, and have implications for understanding normal human variation and human disease. 相似文献
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Tarpey PS Raymond FL Nguyen LS Rodriguez J Hackett A Vandeleur L Smith R Shoubridge C Edkins S Stevens C O'Meara S Tofts C Barthorpe S Buck G Cole J Halliday K Hills K Jones D Mironenko T Perry J Varian J West S Widaa S Teague J Dicks E Butler A Menzies A Richardson D Jenkinson A Shepherd R Raine K Moon J Luo Y Parnau J Bhat SS Gardner A Corbett M Brooks D Thomas P Parkinson-Lawrence E Porteous ME Warner JP Sanderson T Pearson P Simensen RJ Skinner C Hoganson G Superneau D Wooster R Bobrow M 《Nature genetics》2007,39(9):1127-1133
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New models of collaboration in genome-wide association studies: the Genetic Association Information Network 总被引:7,自引:0,他引:7
GAIN Collaborative Research Group Manolio TA Rodriguez LL Brooks L Abecasis G;Collaborative Association Study of Psoriasis Ballinger D Daly M Donnelly P Faraone SV;International Multi-Center ADHD Genetics Project Frazer K Gabriel S Gejman P;Molecular Genetics of Schizophrenia Collaboration Guttmacher A Harris EL Insel T Kelsoe JR;Bipolar Genome Study Lander E McCowin N Mailman MD Nabel E Ostell J Pugh E Sherry S 《Nature genetics》2007,39(9):1045-1051
The Genetic Association Information Network (GAIN) is a public-private partnership established to investigate the genetic basis of common diseases through a series of collaborative genome-wide association studies. GAIN has used new approaches for project selection, data deposition and distribution, collaborative analysis, publication and protection from premature intellectual property claims. These demonstrate a new commitment to shared scientific knowledge that should facilitate rapid advances in understanding the genetics of complex diseases. 相似文献
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Tom Flanagan Janet McIntyre-Mills Tony Made Kelly Mackenzie Charles Morse Gayle Underwood Ken Bausch 《Systemic Practice and Action Research》2012,25(2):171-193
Sustainability is not simply about changing practices but more centrally about agreeing to change practices together. To achieve such an end, groups need to improve processes for making complex decisions together. An online course was designed and tested linking students in the United States and in Australia. Students engaged in a re-enactment of deliberations based on Hasan Ozbekhan’s “Predicament of Mankind,” which was constructed originally under assignment from the founders of the Club of Rome in 1970. This re-enactment included contemporary research for examples of a set of 49 continuous critical problems of mankind, asynchronous clarification of these problems using a wiki, pair-wise construction of a systems view of problems assessed to be of highest priority by the class, narrative analysis of the structure, and creative suggestions for resolving the systems problem based on resources available today. This report comments on the strengths and challenges identified in an initial application of an approach for building collaborative and systems thinking skills through an online course in a general education curriculum. Findings are particularly meaningful for contemporary policy makers as well as online educators. 相似文献
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Howard O. Clark Jr. Gregory D. Warrick Brian L. Cypher Patrick A. Kelly Daniel F. Williams David E. Grubbs 《西北部美国博物学家》2011,65(2)
We investigated interference and exploitative competition between endangered San Joaquin kit foxes ( Vulpes macrotis mutica ) and nonnative red foxes ( V. vulpes ). Seven kit foxes and 16 red foxes were radio-collared and tracked via radiotelemetry near Lost Hills, California. One kit fox was killed by a red fox. Home ranges of the 2 species did not overlap extensively. Although both species used similar habitats, they used different parcels of land. Kit foxes and red foxes primarily consumed rodents on the study site, and dietary overlap was considerable. Red foxes also may have been using dens formerly used by kit foxes. Thus, red foxes were engaging in both interference and exploitative competition with kit foxes, and red foxes constitute a potentially significant threat to kit foxes. Coyotes ( Canis latrans ) co-occur with kit foxes and may limit red fox abundance and distribution. Therefore, although they occasionally kill kit foxes, the presence of coyotes may benefit kit foxes by excluding red foxes. 相似文献
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