全文获取类型
收费全文 | 65篇 |
免费 | 8篇 |
出版年
2024年 | 1篇 |
2022年 | 2篇 |
2021年 | 3篇 |
2018年 | 2篇 |
2017年 | 2篇 |
2016年 | 2篇 |
2015年 | 1篇 |
2014年 | 5篇 |
2013年 | 4篇 |
2012年 | 4篇 |
2011年 | 7篇 |
2010年 | 3篇 |
2009年 | 2篇 |
2008年 | 1篇 |
2006年 | 2篇 |
2005年 | 1篇 |
2003年 | 2篇 |
2002年 | 3篇 |
2001年 | 2篇 |
2000年 | 3篇 |
1999年 | 3篇 |
1998年 | 2篇 |
1997年 | 2篇 |
1996年 | 2篇 |
1995年 | 2篇 |
1993年 | 1篇 |
1992年 | 1篇 |
1987年 | 4篇 |
1985年 | 1篇 |
1983年 | 1篇 |
1977年 | 2篇 |
排序方式: 共有73条查询结果,搜索用时 31 毫秒
1.
2.
Litman GW; Rast JP; Shamblott MJ; Haire RN; Hulst M; Roess W; Litman RT; Hinds- Frey KR; Zilch A; Amemiya CT 《Molecular biology and evolution》1993,10(1):60-72
Immunoglobulins are encoded by a large multigene system that undergoes
somatic rearrangement and additional genetic change during the development
of immunoglobulin-producing cells. Inducible antibody and antibody-like
responses are found in all vertebrates. However, immunoglobulin possessing
disulfide-bonded heavy and light chains and domain-type organization has
been described only in representatives of the jawed vertebrates. High
degrees of nucleotide and predicted amino acid sequence identity are
evident when the segmental elements that constitute the immunoglobulin gene
loci in phylogenetically divergent vertebrates are compared. However, the
organization of gene loci and the manner in which the independent elements
recombine (and diversify) vary markedly among different taxa. One striking
pattern of gene organization is the "cluster type" that appears to be
restricted to the chondrichthyes (cartilaginous fishes) and limits
segmental rearrangement to closely linked elements. This type of gene
organization is associated with both heavy- and light-chain gene loci. In
some cases, the clusters are "joined" or "partially joined" in the germ
line, in effect predetermining or partially predetermining, respectively,
the encoded specificities (the assumption being that these are expressed)
of the individual loci. By relating the sequences of transcribed gene
products to their respective germ-line genes, it is evident that, in some
cases, joined-type genes are expressed. This raises a question about the
existence and/or nature of allelic exclusion in these species. The
extensive variation in gene organization found throughout the vertebrate
species may relate directly to the role of intersegmental
(V<==>D<==>J) distances in the commitment of the individual
antibody-producing cell to a particular genetic specificity. Thus, the
evolution of this locus, perhaps more so than that of others, may reflect
the interrelationships between genetic organization and function.
相似文献
3.
Andrew E Rosselot Miri Park Mari Kim Toru MatsuUra Gang Wu Danilo E Flores Krithika R Subramanian Suengwon Lee Nambirajan Sundaram Taylor R Broda Heather A McCauley Jennifer A Hawkins Kashish Chetal Nathan Salomonis Noah F Shroyer Michael A Helmrath James M Wells John B Hogenesch Sean R Moore Christian I Hong 《The EMBO journal》2022,41(2)
4.
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4) 总被引:4,自引:0,他引:4
Based on recent studies of the photoreceptor-specific ABC transporter gene ABCR (ABCA4) in Stargardt disease (STGD1) and other retinal dystrophies, we and others have developed a model in which the severity of retinal disease correlates inversely with residual ABCR activity. This model predicts that patients with late-onset STGDI may retain partial ABCR activity attributable to mild missense alleles. To test this hypothesis, we used late-onset STGDI patients (onset: > or =35 years) to provide an in vivo functional analysis of various combinations of mutant alleles. We sequenced directly the entire coding region of ABCR and detected mutations in 33/50 (66%) disease chromosomes, but surprisingly, 11/33 (33%) were truncating alleles. Importantly, all 22 missense mutations were located outside the known functional domains of ABCR (ATP-binding or transmembrane), whereas in our general cohort of STGDI subjects, alterations occurred with equal frequency across the entire protein. We suggest that these missense mutations in regions of unknown function are milder alleles and more susceptible to modifier effects. Thus, we have corroborated a prediction from the model of ABCR pathogenicity that (1) one mutant ABCR allele is always missense in late-onset STGD1 patients, and (2) the age-of-onset is correlated with the amount of ABCR activity of this allele. In addition, we report three new pseudodominant families that now comprise eight of 178 outbred STGD1 families and suggest a carrier frequency of STGD1-associated ABCR mutations of about 4.5% (approximately 1/22). 相似文献
5.
Stargardt disease is a recessively transmitted disease caused by mutations in the ABCR gene. Linkage disequilibrium has recently been reported between a polymorphism, 2828 A, and a common Western European founder mutation, 2588 C. Here, we confirm this linkage disequilibrium in a North American population. We also describe two complex alleles involving the 2828 A and 2588 C alterations and suggest a possible order of clinical severity of mutations identified in trans to the complex alleles. Finally, we report pseudodominance of Stargardt disease in a family with the 2588 C mutation, further supporting a high frequency of carriers for ABCR mutations in our population. 相似文献
6.
Zenati MA Sonel A Hattler B Shroyer AL Collins J Messenger J Baltz JH Mohr LM Gabany JM Novitsky D Grover F 《Innovations (Philadelphia, Pa.)》2006,1(5):255-257
OBJECTIVE:: Controlled outcome analysis of mechanical aortic connectors for proximal saphenous vein bypass graft anastomosis is lacking. We report the clinical and angiographic outcome of patients receiving the Symmetry aortic connector (St. Jude Medical, Inc St. Paul, MN, US) within a multicenter, prospective, randomized study. METHODS:: Twenty-five patients at 3 study sites received aortic connectors at the time of coronary artery bypass surgery. Protocol-defined angiographic follow-up was completed in 19 of 25 patients (76%) at time-points up to 14 months postoperatively; 32 connector anastomoses were evaluated in these 19 patients. Beating heart surgery was performed in 17 patients, and 2 were performed with cardiopulmonary bypass. Age was 69.7 ± 8.1 year; all patients were males. RESULTS:: The connector anastomosis patency rate was 15.6% (5/32). There were no deaths during the follow-up period. Four patients (21%) suffered myocardial infarction and 2 additional patients (10.5%) required percutaneous coronary interventions; one of who required 3 percutaneous coronary interventions, the other received one percutaneous coronary intervention. CONCLUSIONS:: In this nonrandomized cohort of patients, occlusion rate with Symmetry connectors was significantly greater than anticipated. Patients who have received these connectors during coronary artery bypass surgery may require closer follow-up and evaluation. While the manufacturer has stopped producing this device, there has been no recall of the product, clinical support remains ongoing, and next generation connectors have now been marketed. Consideration should be given to discontinuation of the clinical use of Symmetry connectors. 相似文献
7.
8.
KR Rupesh PL PremKumar Vasanth V Shiva Kumar Seetharaman S Jayachandran 《BMC microbiology》2002,2(1):5-7
Background
Seeds of the legume plant Lathyrus sativus, which is grown in arid and semi arid tropical regions, contain Diamino Propionic acid (DAP). DAP is a neurotoxin, which, when consumed, causes a disease called Lathyrism. Lathryrism may manifest as Neurolathyrism or Osteolathyrism, in which the nervous system, and bone formation respectively, are affected. DAP ammonia lyase is produced by a few microorganisms such as Salmonella typhi, Salmonella typhimurium and Pseudomonas, and is capable of detoxifying DAP. 相似文献9.
10.
Engineering bacterial thiosulfate and tetrathionate sensors for detecting gut inflammation
下载免费PDF全文
![点击此处可从《Molecular systems biology》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Kristina N‐M Daeffler Jeffrey D Galley Ravi U Sheth Laura C Ortiz‐Velez Christopher O Bibb Noah F Shroyer Robert A Britton Jeffrey J Tabor 《Molecular systems biology》2017,13(4)
There is a groundswell of interest in using genetically engineered sensor bacteria to study gut microbiota pathways, and diagnose or treat associated diseases. Here, we computationally identify the first biological thiosulfate sensor and an improved tetrathionate sensor, both two‐component systems from marine Shewanella species, and validate them in laboratory Escherichia coli. Then, we port these sensors into a gut‐adapted probiotic E. coli strain, and develop a method based upon oral gavage and flow cytometry of colon and fecal samples to demonstrate that colon inflammation (colitis) activates the thiosulfate sensor in mice harboring native gut microbiota. Our thiosulfate sensor may have applications in bacterial diagnostics or therapeutics. Finally, our approach can be replicated for a wide range of bacterial sensors and should thus enable a new class of minimally invasive studies of gut microbiota pathways. 相似文献