排序方式: 共有74条查询结果,搜索用时 0 毫秒
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UCP2, a mitochondrial protein regulated at multiple levels 总被引:1,自引:0,他引:1
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Tip60 is a haplo-insufficient tumour suppressor required for an oncogene-induced DNA damage response
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Hinkes B Wiggins RC Gbadegesin R Vlangos CN Seelow D Nürnberg G Garg P Verma R Chaib H Hoskins BE Ashraf S Becker C Hennies HC Goyal M Wharram BL Schachter AD Mudumana S Drummond I Kerjaschki D Waldherr R Dietrich A Ozaltin F Bakkaloglu A Cleper R Basel-Vanagaite L Pohl M Griebel M Tsygin AN Soylu A Müller D Sorli CS Bunney TD Katan M Liu J Attanasio M O'toole JF Hasselbacher K Mucha B Otto EA Airik R Kispert A Kelley GG Smrcka AV Gudermann T Holzman LB Nürnberg P Hildebrandt F 《Nature genetics》2006,38(12):1397-1405
Nephrotic syndrome, a malfunction of the kidney glomerular filter, leads to proteinuria, edema and, in steroid-resistant nephrotic syndrome, end-stage kidney disease. Using positional cloning, we identified mutations in the phospholipase C epsilon gene (PLCE1) as causing early-onset nephrotic syndrome with end-stage kidney disease. Kidney histology of affected individuals showed diffuse mesangial sclerosis (DMS). Using immunofluorescence, we found PLCepsilon1 expression in developing and mature glomerular podocytes and showed that DMS represents an arrest of normal glomerular development. We identified IQ motif-containing GTPase-activating protein 1 as a new interaction partner of PLCepsilon1. Two siblings with a missense mutation in an exon encoding the PLCepsilon1 catalytic domain showed histology characteristic of focal segmental glomerulosclerosis. Notably, two other affected individuals responded to therapy, making this the first report of a molecular cause of nephrotic syndrome that may resolve after therapy. These findings, together with the zebrafish model of human nephrotic syndrome generated by plce1 knockdown, open new inroads into pathophysiology and treatment mechanisms of nephrotic syndrome. 相似文献
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Dafne Gays Massimo Mattia Santoro 《Cellular and molecular life sciences : CMLS》2013,70(14):2489-2503
MicroRNAs are small non-coding RNAs endogenously expressed by all tissues during development and adulthood. They regulate gene expression by controlling the stability of targeted messenger RNA. In cardiovascular tissues microRNAs play a role by modulating essential genes involved in heart and blood vessel development and homeostasis. The zebrafish (Danio rerio) system is a recognized vertebrate model system useful to study cardiovascular biology; recently, it has been used to investigate microRNA functions during natural and pathological states. In this review, we will illustrate the advantages of the zebrafish model in the study of microRNAs in heart and vascular cells, providing an update on recent discoveries using the zebrafish to identify new microRNAs and their targeted genes in cardiovascular tissues. Lastly, we will provide evidence that the zebrafish is an optimal model system to undercover new microRNA functions in vertebrates and to improve microRNA-based therapeutic approaches. 相似文献
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Deschaseaux F Delgado D Pistoia V Giuliani M Morandi F Durrbach A 《Cellular and molecular life sciences : CMLS》2011,68(3):397-404
HLA-G plays a particular role during pregnancy in which its expression at the feto–maternal barrier participates into the
tolerance of the allogenic foetus. HLA-G has also been demonstrated to be expressed in some transplanted patients, suggesting
that it regulates the allogenic response. In vitro data indicate that HLA-G modulates NK cells, T cells, and DC maturation
through its interactions with various inhibitory receptors. In this paper, we will review the data reporting the HLA-G involvement
of HLA-G in human organ transplantation, then factors that can modulate HLA-G, and finally the use of HLA-G as a therapeutic
tool in organ transplantation. 相似文献
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Comino-Méndez I Gracia-Aznárez FJ Schiavi F Landa I Leandro-García LJ Letón R Honrado E Ramos-Medina R Caronia D Pita G Gómez-Graña A de Cubas AA Inglada-Pérez L Maliszewska A Taschin E Bobisse S Pica G Loli P Hernández-Lavado R Díaz JA Gómez-Morales M González-Neira A Roncador G Rodríguez-Antona C Benítez J Mannelli M Opocher G Robledo M Cascón A 《Nature genetics》2011,43(7):663-667
Hereditary pheochromocytoma (PCC) is often caused by germline mutations in one of nine susceptibility genes described to date, but there are familial cases without mutations in these known genes. We sequenced the exomes of three unrelated individuals with hereditary PCC (cases) and identified mutations in MAX, the MYC associated factor X gene. Absence of MAX protein in the tumors and loss of heterozygosity caused by uniparental disomy supported the involvement of MAX alterations in the disease. A follow-up study of a selected series of 59 cases with PCC identified five additional MAX mutations and suggested an association with malignant outcome and preferential paternal transmission of MAX mutations. The involvement of the MYC-MAX-MXD1 network in the development and progression of neural crest cell tumors is further supported by the lack of functional MAX in rat PCC (PC12) cells and by the amplification of MYCN in neuroblastoma and suggests that loss of MAX function is correlated with metastatic potential. 相似文献
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Loss of the Lkb1 tumour suppressor provokes intestinal polyposis but resistance to transformation 总被引:18,自引:0,他引:18
Bardeesy N Sinha M Hezel AF Signoretti S Hathaway NA Sharpless NE Loda M Carrasco DR DePinho RA 《Nature》2002,419(6903):162-167
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