排序方式: 共有50条查询结果,搜索用时 31 毫秒
41.
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer 总被引:1,自引:0,他引:1
Reid S Schindler D Hanenberg H Barker K Hanks S Kalb R Neveling K Kelly P Seal S Freund M Wurm M Batish SD Lach FP Yetgin S Neitzel H Ariffin H Tischkowitz M Mathew CG Auerbach AD Rahman N 《Nature genetics》2007,39(2):162-164
PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood malignancies. We identified pathogenic mutations in PALB2 (also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to biallelic BRCA2 mutations, confer a high risk of childhood cancer. 相似文献
42.
MMTV insertional mutagenesis identifies genes, gene families and pathways involved in mammary cancer 总被引:8,自引:0,他引:8
Theodorou V Kimm MA Boer M Wessels L Theelen W Jonkers J Hilkens J 《Nature genetics》2007,39(6):759-769
We performed a high-throughput retroviral insertional mutagenesis screen in mouse mammary tumor virus (MMTV)-induced mammary tumors and identified 33 common insertion sites, of which 17 genes were previously not known to be associated with mammary cancer and 13 had not previously been linked to cancer in general. Although members of the Wnt and fibroblast growth factors (Fgf) families were frequently tagged, our exhaustive screening for MMTV insertion sites uncovered a new repertoire of candidate breast cancer oncogenes. We validated one of these genes, Rspo3, as an oncogene by overexpression in a p53-deficient mammary epithelial cell line. The human orthologs of the candidate oncogenes were frequently deregulated in human breast cancers and associated with several tumor parameters. Computational analysis of all MMTV-tagged genes uncovered specific gene families not previously associated with cancer and showed a significant overrepresentation of protein domains and signaling pathways mainly associated with development and growth factor signaling. Comparison of all tagged genes in MMTV and Moloney murine leukemia virus-induced malignancies showed that both viruses target mostly different genes that act predominantly in distinct pathways. 相似文献
43.
Morison IM Cramer Bordé EM Cheesman EJ Cheong PL Holyoake AJ Fichelson S Weeks RJ Lo A Davies SM Wilbanks SM Fagerlund RD Ludgate MW da Silva Tatley FM Coker MS Bockett NA Hughes G Pippig DA Smith MP Capron C Ledgerwood EC 《Nature genetics》2008,40(4):387-389
We report the first identified mutation in the gene encoding human cytochrome c (CYCS). Glycine 41, invariant throughout eukaryotes, is substituted by serine in a family with autosomal dominant thrombocytopenia caused by dysregulated platelet formation. The mutation yields a cytochrome c variant with enhanced apoptotic activity in vitro. Notably, the family has no other phenotypic indication of abnormal apoptosis, implying that cytochrome c activity is not a critical regulator of most physiological apoptosis. 相似文献
44.
Roscioli T Cliffe ST Bloch DB Bell CG Mullan G Taylor PJ Sarris M Wang J Donald JA Kirk EP Ziegler JB Salzer U McDonald GB Wong M Lindeman R Buckley MF 《Nature genetics》2006,38(6):620-622
We describe mutations in the PML nuclear body protein Sp110 in the syndrome veno-occlusive disease with immunodeficiency, an autosomal recessive disorder of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. This is the first report of the involvement of a nuclear body protein in a human primary immunodeficiency and of high-penetrance genetic mutations in hepatic veno-occlusive disease. 相似文献
45.
Melanie Tannenbaum 《科学大观园》2014,(14):35-37
<正>对于那些不熟悉X战警系列的人来说,里面的故事都围绕着一群有超能力的"变种人",他们代表人类演化的下一个阶段。除了电影中的炫目特效和精彩的动作片段外,影片中超能力的涵盖面非常广,从心灵感应到细胞再生应有尽有。最令人注目的特点在于,人们很容易就能理解并代入X战警及其他变种人面对惶恐不堪的普通人时受到的偏见。事实上,X战警系列电影能够在很大程度上帮助我们理解刻板印象的特性,了解它们是如何形成 相似文献
46.
Melanie Tannenbaum 《大众科学.科学研究与实践》2014,(9)
正X战警系列电影能在很大程度上帮助我们理解"刻板印象"的特性,了解它们是如何形成的,在日常生活中又是怎样被唤醒的对于那些不熟悉《X战警》电影系列的人来说,里面的故事都围绕着一群有超能力的"变种人"。影片中超能力的涵盖面非常广,从心灵感应到细胞再生应有尽有。除了电影中的炫目特效和精彩的动作片段外,这个系列最令人注目的特点在于,人们很容易就能理解并代入 相似文献
47.
Braig M Lee S Loddenkemper C Rudolph C Peters AH Schlegelberger B Stein H Dörken B Jenuwein T Schmitt CA 《Nature》2005,436(7051):660-665
Acute induction of oncogenic Ras provokes cellular senescence involving the retinoblastoma (Rb) pathway, but the tumour suppressive potential of senescence in vivo remains elusive. Recently, Rb-mediated silencing of growth-promoting genes by heterochromatin formation associated with methylation of histone H3 lysine 9 (H3K9me) was identified as a critical feature of cellular senescence, which may depend on the histone methyltransferase Suv39h1. Here we show that Emicro-N-Ras transgenic mice harbouring targeted heterozygous lesions at the Suv39h1, or the p53 locus for comparison, succumb to invasive T-cell lymphomas that lack expression of Suv39h1 or p53, respectively. By contrast, most N-Ras-transgenic wild-type ('control') animals develop a non-lymphoid neoplasia significantly later. Proliferation of primary lymphocytes is directly stalled by a Suv39h1-dependent, H3K9me-related senescent growth arrest in response to oncogenic Ras, thereby cancelling lymphomagenesis at an initial step. Suv39h1-deficient lymphoma cells grow rapidly but, unlike p53-deficient cells, remain highly susceptible to adriamycin-induced apoptosis. In contrast, only control, but not Suv39h1-deficient or p53-deficient, lymphomas senesce after drug therapy when apoptosis is blocked. These results identify H3K9me-mediated senescence as a novel Suv39h1-dependent tumour suppressor mechanism whose inactivation permits the formation of aggressive but apoptosis-competent lymphomas in response to oncogenic Ras. 相似文献
48.
Gilman AG Simon MI Bourne HR Harris BA Long R Ross EM Stull JT Taussig R Bourne HR Arkin AP Cobb MH Cyster JG Devreotes PN Ferrell JE Fruman D Gold M Weiss A Stull JT Berridge MJ Cantley LC Catterall WA Coughlin SR Olson EN Smith TF Brugge JS Botstein D Dixon JE Hunter T Lefkowitz RJ Pawson AJ Sternberg PW Varmus H Subramaniam S Sinkovits RS Li J Mock D Ning Y Saunders B Sternweis PC Hilgemann D Scheuermann RH DeCamp D Hsueh R Lin KM Ni Y Seaman WE Simpson PC O'Connell TD Roach T Simon MI 《Nature》2002,420(6916):703-706
The Alliance for Cellular Signaling is a large-scale collaboration designed to answer global questions about signalling networks. Pathways will be studied intensively in two cells--B lymphocytes (the cells of the immune system) and cardiac myocytes--to facilitate quantitative modelling. One goal is to catalyse complementary research in individual laboratories; to facilitate this, all alliance data are freely available for use by the entire research community. 相似文献
49.
A lentivirus-based system to functionally silence genes in primary mammalian cells,stem cells and transgenic mice by RNA interference 总被引:87,自引:0,他引:87
50.
S Seshagiri EW Stawiski S Durinck Z Modrusan EE Storm CB Conboy S Chaudhuri Y Guan V Janakiraman BS Jaiswal J Guillory C Ha GJ Dijkgraaf J Stinson F Gnad MA Huntley JD Degenhardt PM Haverty R Bourgon W Wang H Koeppen R Gentleman TK Starr Z Zhang DA Largaespada TD Wu FJ de Sauvage 《Nature》2012,488(7413):660-664