排序方式: 共有12条查询结果,搜索用时 15 毫秒
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Sobacchi C Frattini A Guerrini MM Abinun M Pangrazio A Susani L Bredius R Mancini G Cant A Bishop N Grabowski P Del Fattore A Messina C Errigo G Coxon FP Scott DI Teti A Rogers MJ Vezzoni P Villa A Helfrich MH 《Nature genetics》2007,39(8):960-962
Autosomal recessive osteopetrosis is usually associated with normal or elevated numbers of nonfunctional osteoclasts. Here we report mutations in the gene encoding RANKL (receptor activator of nuclear factor-KB ligand) in six individuals with autosomal recessive osteopetrosis whose bone biopsy specimens lacked osteoclasts. These individuals did not show any obvious defects in immunological parameters and could not be cured by hematopoietic stem cell transplantation; however, exogenous RANKL induced formation of functional osteoclasts from their monocytes, suggesting that they could, theoretically, benefit from exogenous RANKL administration. 相似文献
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ARTC1-mediated ADP-ribosylation of GRP78/BiP: a new player in endoplasmic-reticulum stress responses
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Analysis of the coding genome of diffuse large B-cell lymphoma 总被引:1,自引:0,他引:1
Pasqualucci L Trifonov V Fabbri G Ma J Rossi D Chiarenza A Wells VA Grunn A Messina M Elliot O Chan J Bhagat G Chadburn A Gaidano G Mullighan CG Rabadan R Dalla-Favera R 《Nature genetics》2011,43(9):830-837
Diffuse large B-cell lymphoma (DLBCL) is the most common form of human lymphoma. Although a number of structural alterations have been associated with the pathogenesis of this malignancy, the full spectrum of genetic lesions that are present in the DLBCL genome, and therefore the identity of dysregulated cellular pathways, remains unknown. By combining next-generation sequencing and copy number analysis, we show that the DLBCL coding genome contains, on average, more than 30 clonally represented gene alterations per case. This analysis also revealed mutations in genes not previously implicated in DLBCL pathogenesis, including those regulating chromatin methylation (MLL2; 24% of samples) and immune recognition by T cells. These results provide initial data on the complexity of the DLBCL coding genome and identify novel dysregulated pathways underlying its pathogenesis. 相似文献
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R. B. Raikow J. P. OKunewick M. J. Buffo D. L. Kociban 《Cellular and molecular life sciences : CMLS》1985,41(5):664-666
Summary Propane sultone (PS) injected i.p. 24 or more hours before Friend leukemia virus increased the incidence of lymphoma in SJL/J mice and at a higher dose increased the incidence of erythroleukemia in B10SJF1 mice. PS at the same time also decreased hematopoietic stem cell clonogenicity. 相似文献
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The endophilin-CIN85-Cbl complex mediates ligand-dependent downregulation of c-Met 总被引:13,自引:0,他引:13
Ligand-dependent downregulation of tyrosine kinase receptors is a critical step for modulating their activity. Upon ligand binding, hepatocyte growth factor (HGF) receptor (Met) is polyubiquitinated and degraded; however, the mechanisms underlying HGF receptor endocytosis are not yet known. Here we demonstrate that a complex involving endophilins, CIN85 and Cbl controls this process. Endophilins are regulatory components of clathrin-coated vesicle formation. Through their acyl-transferase activity they are thought to modify the membrane phospholipids and induce negative curvature and invagination of the plasma membrane during the early steps of endocytosis. Furthermore, by means of their Src-homology 3 domains, endophilins are able to bind CIN85, a recently identified protein that interacts with the Cbl proto-oncogene. Cbl, in turn, binds and ubiquitinates activated HGF receptor, and by recruiting the endophilin-CIN85 complex, it regulates receptor internalization. Inhibition of complex formation is sufficient to block HGF receptor internalization and to enhance HGF-induced signal transduction and biological responses. These data provide further evidence of a relationship between receptor-mediated signalling and endocytosis, and disclose a novel functional role for Cbl in HGF receptor signalling. 相似文献
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Annalisa Contursi Angela Sacco Rosalia Grande Melania Dovizio Paola Patrignani 《Cellular and molecular life sciences : CMLS》2017,74(19):3491-3507
Platelets are anucleated cells that circulate in the blood as sentinels of tissue integrity. In fact, they are rich in a plethora of proteins and other factors stored in different granules which they selectively release upon stimulation. Moreover, platelets synthesize a vast number of lipids and release various types of vesicles, including exosomes which are rich in genetic material. Platelets possess a central function to interact with other cell types, including inflammatory cells and cancer cells. Recent findings have enlightened the capacity of platelets to induce changes in the phenotype of cancer cells which acquire invasiveness thus enhancing their metastatic potential. Thus, it has been hypothesized that targeting the platelet may represent a novel strategy to prevent the development and progression of cancer. This is supported by the efficacy of the antiplatelet agent low-dose aspirin. Studies are ongoing to verify whether other antiplatelet agents share the anticancer effectiveness of aspirin. 相似文献
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M. Derenzini Annalisa Pession-Brizzi F. Novello 《Cellular and molecular life sciences : CMLS》1980,36(2):181-183
Summary Ribonuclease treatment of isolated rat hepatocyte nuclei induced a 75% solubilization of hnRNA, a reduction of the qualtity of perichromatin fibrils, and a marked condensation of chromatin.This investigation was supported by grants from C.N.R. (Roma) and by Pallotti's Legacy for Cancer Research. 相似文献
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