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排序方式: 共有144条查询结果,搜索用时 15 毫秒
21.
Niall J Lennon Robert E Lintner Scott Anderson Pablo Alvarez Andrew Barry William Brockman Riza Daza Rachel L Erlich Georgia Giannoukos Lisa Green Andrew Hollinger Cindi A Hoover David B Jaffe Frank Juhn Danielle McCarthy Danielle Perrin Karen Ponchner Taryn L Powers Kamran Rizzolo Dana Robbins Elizabeth Ryan Carsten Russ Todd Sparrow John Stalker Scott Steelman Michael Weiand Andrew Zimmer Matthew R Henn Chad Nusbaum Robert Nicol 《Genome biology》2010,11(2):1-9
We present an automated, high throughput library construction process for 454 technology. Sample handling errors and cross-contamination are minimized via end-to-end barcoding of plasticware, along with molecular DNA barcoding of constructs. Automation-friendly magnetic bead-based size selection and cleanup steps have been devised, eliminating major bottlenecks and significant sources of error. Using this methodology, one technician can create 96 sequence-ready 454 libraries in 2 days, a dramatic improvement over the standard method. 相似文献
22.
Asmaa Mamoune Michel Bahuau Yamina Hamel Valérie Serre Michele Pelosi Florence Habarou Marie-Ange Nguyen Morel Bertrand Boisson Sabrina Vergnaud Mai Thao Viou Luc Nonnenmacher Monique Piraud Patrick Nusbaum Joseph Vamecq Norma Romero Chris Ottolenghi Jean-Laurent Casanova Pascale de Lonlay 《PLoS genetics》2014,10(11)
Aldolase A deficiency has been reported as a rare cause of hemolytic anemia occasionally associated with myopathy. We identified a deleterious homozygous mutation in the ALDOA gene in 3 siblings with episodic rhabdomyolysis without hemolytic anemia. Myoglobinuria was always triggered by febrile illnesses. We show that the underlying mechanism involves an exacerbation of aldolase A deficiency at high temperatures that affected myoblasts but not erythrocytes. The aldolase A deficiency was rescued by arginine supplementation in vitro but not by glycerol, betaine or benzylhydantoin, three other known chaperones, suggesting that arginine-mediated rescue operated by a mechanism other than protein chaperoning. Lipid droplets accumulated in patient myoblasts relative to control and this was increased by cytokines, and reduced by dexamethasone. Our results expand the clinical spectrum of aldolase A deficiency to isolated temperature-dependent rhabdomyolysis, and suggest that thermolability may be tissue specific. We also propose a treatment for this severe disease.
Abstract Summary
Using recent technical advances involving exome analysis, we identified a new missense mutation in the ALDOA gene, encoding a key enzyme in the glycolytic pathway. The patients presented with severe recurrent rhabdomyolysis without hemolytic anemia. The decrease of aldolase A activity in myoblasts was enhanced at high temperature and could explain the fever-induced rhabdomyolysis. By contrast, enzyme thermolability was not found in erythrocytes, possibly accounting for the unusual clinical phenotype of the patients. Enzyme thermolability was rescued by arginine supplementation in vitro but not by other chaperone compounds. 相似文献23.
24.
Haberer G Young S Bharti AK Gundlach H Raymond C Fuks G Butler E Wing RA Rounsley S Birren B Nusbaum C Mayer KF Messing J 《Plant physiology》2005,139(4):1612-1624
Maize (Zea mays or corn) plays many varied and important roles in society. It is not only an important experimental model plant, but also a major livestock feed crop and a significant source of industrial products such as sweeteners and ethanol. In this study we report the systematic analysis of contiguous sequences of the maize genome. We selected 100 random regions averaging 144 kb in size, representing about 0.6% of the genome, and generated a high-quality dataset for sequence analysis. This sampling contains 330 annotated genes, 91% of which are supported by expressed sequence tag data from maize and other cereal species. Genes averaged 4 kb in size with five exons, although the largest was over 59 kb with 31 exons. Gene density varied over a wide range from 0.5 to 10.7 genes per 100 kb and genes did not appear to cluster significantly. The total repetitive element content we observed (66%) was slightly higher than previous whole-genome estimates (58%-63%) and consisted almost exclusively of retroelements. The vast majority of genes can be aligned to at least one sequence read derived from gene-enrichment procedures, but only about 30% are fully covered. Our results indicate that much of the increase in genome size of maize relative to rice (Oryza sativa) and Arabidopsis (Arabidopsis thaliana) is attributable to an increase in number of both repetitive elements and genes. 相似文献
25.
Józef Nusbaum 《Development genes and evolution》1907,24(1):114-123
Ohne Zusammenfassung 相似文献
26.
Although the acoustic variability of speech is often described as a problem for phonetic recognition, there is little research examining acoustic-phonetic variability over time. We measured naturally occurring acoustic variability in speech production at nine specific time points (three per day over three days) to examine daily change in production as well as change across days for citation-form vowels. Productions of seven different vowels (/EE/, /IH/, /AH/, /UH/, /AE/, /OO/, /EH/) were recorded at 9AM, 3PM and 9PM over the course of each testing day on three different days, every other day, over a span of five days. Results indicate significant systematic change in F1 and F0 values over the course of a day for each of the seven vowels recorded, whereas F2 and F3 remained stable. Despite this systematic change within a day, however, talkers did not show significant changes in F0, F1, F2, and F3 between days, demonstrating that speakers are capable of producing vowels with great reliability over days without any extrinsic feedback besides their own auditory monitoring. The data show that in spite of substantial day-to-day variability in the specific listening and speaking experiences of these participants and thus exposure to different acoustic tokens of speech, there is a high degree of internal precision and consistency for the production of citation form vowels. 相似文献
27.
A Sghaier-Ayadi M Feki I Bezrati-Ben Ayed O Abene MK Ben Fredj K Kaabachi A Chaouachi 《Biology of sport / Institute of Sport》2015,32(4):281-287
Recent reports suggest that hypovitaminosis D in athletes is as common as in the general population. This study was devised to examine vitamin D status and determinants of deficiency in athletes living in a sunny country (Tunisia). One hundred and fifty national elite athletes, training outdoors (n = 83) or indoors (n = 67), were enrolled from January to February 2012. Plasma 25-hydroxyvitamin D was measured by radioimmunoassay. Concentrations were between 50 and 75 nmol · l-1 in 21.3% of participants, between 25 and 50 nmol · l-1 in 55.3% of participants and <25 nmol · l-1 in 14.7% of participants. The concentrations were significantly lower in indoor athletes than outdoor athletes (36.2±19.0 nmol · l-1 vs. 49.1±19.2 nmol · l-1; p < 0.001). In multivariate analysis, vitamin D deficiency (25-hydroxyvitamin D <50 nmol · l-1) was associated with indoor sports [multi-adjusted odds ratio (95% confidence interval), 5.03 (1.64-15.4); p = 0.005], female gender [3.72 (1.44-9.65); p = 0.007] and age < 18 years [2.40 (1.01-5.85); p = 0.05]. Athletes living in sun-rich environments are exposed to a high risk of vitamin D inadequacy. Given the importance of vitamin D in health and athletic ability, targeting sufficient levels of plasma 25-hydroxyvitamin D in athletes is well justified. 相似文献
28.
Iain MacCallum Dariusz Przybylski Sante Gnerre Joshua Burton Ilya Shlyakhter Andreas Gnirke Joel Malek Kevin McKernan Swati Ranade Terrance P Shea Louise Williams Sarah Young Chad Nusbaum David B Jaffe 《Genome biology》2009,10(10):R103
We demonstrate that genome sequences approaching finished quality can be generated from short paired reads. Using 36 base (fragment) and 26 base (jumping) reads from five microbial genomes of varied GC composition and sizes up to 40 Mb, ALLPATHS2 generated assemblies with long, accurate contigs and scaffolds. Velvet and EULER-SR were less accurate. For example, for Escherichia coli, the fraction of 10-kb stretches that were perfect was 99.8% (ALLPATHS2), 68.7% (Velvet), and 42.1% (EULER-SR). 相似文献
29.
Guma MK Abdeldaim Kristoffer Strålin Jens Korsgaard Jonas Blomberg Christina Welinder-Olsson Björn Herrmann 《BMC microbiology》2010,10(1):310