全文获取类型
收费全文 | 107篇 |
免费 | 16篇 |
出版年
2022年 | 1篇 |
2021年 | 1篇 |
2019年 | 1篇 |
2017年 | 1篇 |
2016年 | 1篇 |
2015年 | 1篇 |
2014年 | 2篇 |
2013年 | 7篇 |
2011年 | 2篇 |
2010年 | 6篇 |
2009年 | 3篇 |
2008年 | 2篇 |
2007年 | 8篇 |
2006年 | 14篇 |
2005年 | 11篇 |
2004年 | 16篇 |
2003年 | 6篇 |
2002年 | 4篇 |
2001年 | 3篇 |
2000年 | 2篇 |
1999年 | 4篇 |
1998年 | 2篇 |
1997年 | 2篇 |
1996年 | 3篇 |
1995年 | 3篇 |
1994年 | 2篇 |
1993年 | 1篇 |
1992年 | 3篇 |
1991年 | 3篇 |
1990年 | 2篇 |
1989年 | 1篇 |
1988年 | 1篇 |
1985年 | 1篇 |
1984年 | 1篇 |
1977年 | 1篇 |
1975年 | 1篇 |
排序方式: 共有123条查询结果,搜索用时 578 毫秒
101.
102.
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. 总被引:12,自引:2,他引:10
下载免费PDF全文
![点击此处可从《American journal of human genetics》网站下载免费的PDF全文](/ch/ext_images/free.gif)
M Zeviani N Bresolin C Gellera A Bordoni M Pannacci P Amati M Moggio S Servidei G Scarlato S DiDonato 《American journal of human genetics》1990,47(6):904-914
We studied several affected and one nonaffected individuals belonging to three unrelated pedigrees. The pathological trait was an autosomal dominant mitochondrial myopathy due to large-scale multiple deletions of the mitochondrial genome. Clinically, symptomatic patients had progressive external ophthalmoplegia, muscle weakness and wasting, sensorineural hypoacusia, and, in some cases, vestibular areflexia and tremor. The muscle biopsies of all patients examined showed ragged-red fibers, neurogenic changes, and a partially decreased histochemical reaction to cytochrome c oxidase. Multiple mtDNA heteroplasmy was detected in the patients by both Southern blot analysis and PCR amplification, whereas the unaffected individual had the normal homoplasmic hybridization pattern. These findings confirm and add further details to the existence of a new human disease--defined clinically as a mitochondrial myopathy, genetically as a Mendelian autosomal dominant trait, and molecularly by the accumulation of multiple, large-scale deletions of the mitochondrial genome--that is due to impaired nuclear control during mtDNA replication. 相似文献
103.
J E Bird T L Waldron D K Little M M Asaad C R Dorso G DiDonato J A Norman 《Biochemical and biophysical research communications》1992,182(1):224-231
The aspartic protease, cathepsin E, has been shown to specifically cleave big endothelin (big ET-1) at the Trp21-Val22 bond to produce endothelin (ET-1) and the corresponding C-terminal fragment. To determine whether cathepsin E is a physiologically relevant endothelin converting enzyme (ECE), three novel and potent inhibitors of cathepsin E were administered to conscious rats prior to a pressor challenge with big ET-1. One of the inhibitors of cathepsin E, SQ 32,056 (3 mg/kg i.v.), blocked the big ET-1 response. However, this dose of SQ 32,056 also blocked the pressor response to ET-1. Phosphoramidon specifically inhibited the Big ET-1 pressor response. These results suggest that ECE is not cathepsin E. 相似文献
104.
105.
Rife C Schwarzenbacher R McMullan D Abdubek P Ambing E Axelrod H Biorac T Canaves JM Chiu HJ Deacon AM DiDonato M Elsliger MA Godzik A Grittini C Grzechnik SK Hale J Hampton E Han GW Haugen J Hornsby M Jaroszewski L Klock HE Koesema E Kreusch A Kuhn P Lesley SA Miller MD Moy K Nigoghossian E Paulsen J Quijano K Reyes R Sims E Spraggon G Stevens RC van den Bedem H Velasquez J Vincent J White A Wolf G Xu Q Hodgson KO Wooley J Wilson IA 《Proteins》2005,61(2):449-453
106.
Klock HE Schwarzenbacher R Xu Q McMullan D Abdubek P Ambing E Axelrod H Biorac T Canaves JM Chiu HJ Deacon AM DiDonato M Elsliger MA Godzik A Grittini C Grzechnik SK Hale J Hampton E Han GW Haugen J Hornsby M Jaroszewski L Koesema E Kreusch A Kuhn P Miller MD Moy K Nigoghossian E Paulsen J Quijano K Reyes R Rife C Sims E Spraggon G Stevens RC van den Bedem H Velasquez J Vincent J White A Wolf G Hodgson KO Wooley J Lesley SA Wilson IA 《Proteins》2005,61(4):1132-1136
107.
Han GW Schwarzenbacher R Page R Jaroszewski L Abdubek P Ambing E Biorac T Canaves JM Chiu HJ Dai X Deacon AM DiDonato M Elsliger MA Godzik A Grittini C Grzechnik SK Hale J Hampton E Haugen J Hornsby M Klock HE Koesema E Kreusch A Kuhn P Lesley SA Levin I McMullan D McPhillips TM Miller MD Morse A Moy K Nigoghossian E Ouyang J Paulsen J Quijano K Reyes R Sims E Spraggon G Stevens RC van den Bedem H Velasquez J Vincent J von Delft F Wang X West B White A Wolf G Xu Q Zagnitko O Hodgson KO Wooley J 《Proteins》2005,58(4):971-975
108.
Jaroszewski L Schwarzenbacher R McMullan D Abdubek P Agarwalla S Ambing E Axelrod H Biorac T Canaves JM Chiu HJ Deacon AM DiDonato M Elsliger MA Godzik A Grittini C Grzechnik SK Hale J Hampton E Han GW Haugen J Hornsby M Klock HE Koesema E Kreusch A Kuhn P Lesley SA Miller MD Moy K Nigoghossian E Paulsen J Quijano K Reyes R Rife C Spraggon G Stevens RC van den Bedem H Velasquez J Vincent J White A Wolf G Xu Q Hodgson KO Wooley J Wilson IA 《Proteins》2005,61(3):669-673
109.
Han GW Schwarzenbacher R McMullan D Abdubek P Ambing E Axelrod H Biorac T Canaves JM Chiu HJ Dai X Deacon AM DiDonato M Elsliger MA Godzik A Grittini C Grzechnik SK Hale J Hampton E Haugen J Hornsby M Jaroszewski L Klock HE Koesema E Kreusch A Kuhn P Lesley SA McPhillips TM Miller MD Moy K Nigoghossian E Paulsen J Quijano K Reyes R Spraggon G Stevens RC van den Bedem H Velasquez J Vincent J White A Wolf G Xu Q Hodgson KO Wooley J Wilson IA 《Proteins》2005,60(4):797-802
110.
Jaroszewski L Schwarzenbacher R von Delft F McMullan D Brinen LS Canaves JM Dai X Deacon AM DiDonato M Elsliger MA Eshagi S Floyd R Godzik A Grittini C Grzechnik SK Hampton E Levin I Karlak C Klock HE Koesema E Kovarik JS Kreusch A Kuhn P Lesley SA McPhillips TM Miller MD Morse A Moy K Ouyang J Page R Quijano K Reyes R Rezezadeh F Robb A Sims E Spraggon G Stevens RC van den Bedem H Velasquez J Vincent J Wang X West B Wolf G Xu Q Hodgson KO Wooley J Wilson IA 《Proteins》2004,56(3):611-614