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41.
Bovee D Zhou Y Haugen E Wu Z Hayden HS Gillett W Tuzun E Cooper GM Sampas N Phelps K Levy R Morrison VA Sprague J Jewett D Buckley D Subramaniam S Chang J Smith DR Olson MV Eichler EE Kaul R 《Nature genetics》2008,40(1):96-101
The human genome sequence has been finished to very high standards; however, more than 340 gaps remained when the finished genome was published by the International Human Genome Sequencing Consortium in 2004. Using fosmid resources generated from multiple individuals, we targeted gaps in the euchromatic part of the human genome. Here we report 2,488,842 bp of previously unknown euchromatic sequence, 363,114 bp of which close 26 of 250 euchromatic gaps, or 10%, including two remaining euchromatic gaps on chromosome 19. Eight (30.7%) of the closed gaps were found to be polymorphic. These sequences allow complete annotation of several human genes as well as the assignment of mRNAs. The gap sequences are 2.3-fold enriched in segmentally duplicated sequences compared to the whole genome. Our analysis confirms that not all gaps within 'finished' genomes are recalcitrant to subcloning and suggests that the paired-end-sequenced fosmid libraries could prove to be a rich resource for completion of the human euchromatic genome. 相似文献
42.
Hereditary pancreatitis caused by triplication of the trypsinogen locus 总被引:12,自引:0,他引:12
Le Maréchal C Masson E Chen JM Morel F Ruszniewski P Levy P Férec C 《Nature genetics》2006,38(12):1372-1374
Hereditary pancreatitis has been reported to be caused by 'gain-of-function' missense mutations in the cationic trypsinogen gene (PRSS1). Here we report the triplication of a approximately 605-kb segment containing the PRSS1 gene on chromosome 7 in five families with hereditary pancreatitis. This triplication, which seems to result in a gain of trypsin through a gene dosage effect, represents a previously unknown molecular mechanism causing hereditary pancreatitis. 相似文献
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Radisky DC Levy DD Littlepage LE Liu H Nelson CM Fata JE Leake D Godden EL Albertson DG Nieto MA Werb Z Bissell MJ 《Nature》2005,436(7047):123-127
44.
Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling 总被引:366,自引:0,他引:366
Alizadeh AA Eisen MB Davis RE Ma C Lossos IS Rosenwald A Boldrick JC Sabet H Tran T Yu X Powell JI Yang L Marti GE Moore T Hudson J Lu L Lewis DB Tibshirani R Sherlock G Chan WC Greiner TC Weisenburger DD Armitage JO Warnke R Levy R Wilson W Grever MR Byrd JC Botstein D Brown PO Staudt LM 《Nature》2000,403(6769):503-511
Diffuse large B-cell lymphoma (DLBCL), the most common subtype of non-Hodgkin's lymphoma, is clinically heterogeneous: 40% of patients respond well to current therapy and have prolonged survival, whereas the remainder succumb to the disease. We proposed that this variability in natural history reflects unrecognized molecular heterogeneity in the tumours. Using DNA microarrays, we have conducted a systematic characterization of gene expression in B-cell malignancies. Here we show that there is diversity in gene expression among the tumours of DLBCL patients, apparently reflecting the variation in tumour proliferation rate, host response and differentiation state of the tumour. We identified two molecularly distinct forms of DLBCL which had gene expression patterns indicative of different stages of B-cell differentiation. One type expressed genes characteristic of germinal centre B cells ('germinal centre B-like DLBCL'); the second type expressed genes normally induced during in vitro activation of peripheral blood B cells ('activated B-like DLBCL'). Patients with germinal centre B-like DLBCL had a significantly better overall survival than those with activated B-like DLBCL. The molecular classification of tumours on the basis of gene expression can thus identify previously undetected and clinically significant subtypes of cancer. 相似文献
45.
Human serum beta lipoprotein and beta apoprotein 总被引:1,自引:0,他引:1
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Sh. Giler E. Ventura E. Levy I. Urca O. Sperling A. de Vries 《Cellular and molecular life sciences : CMLS》1976,32(5):620-621
Summary Halothane anesthesia was found to be hepatotoxic in the rat, as demonstrated by a significant elevation of serum xanthine oxidase (SXO) level. SXO appeared to be a more sensitive marker of liver damage than serum, glutamic oxalacetic transaminsa. SXO was found to be elevated also following exposure to relative hypoxia. 相似文献