排序方式: 共有112条查询结果,搜索用时 259 毫秒
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Rani DS Nallari P Dhandapany PS Tamilarasi S Shah A Archana V AshokKumar M Narasimhan C Singh L Thangaraj K 《DNA and cell biology》2012,31(4):616-624
We sought to determine the frequency of the genetic variations in the Troponin T (TNNT2) gene and its association in Indian cardiomyopathy patients. Sequencing of the entire TNNT2 gene in 162 hypertrophic cardiomyopathy (HCM) patients, along with 179 healthy controls, revealed a total of 15 variants. These included an A28V missense mutation, a novel single-nucleotide polymorphism (SNP) (g.7239;G→A) predicted to disturb the splicing significantly, three SNPs, rs3729547 (C→T), rs3729843 (G→A), rs3729842 (C→T), which were in high linkage disequilibrium, and a 5 bp polymorphism that skipped exon 4 during splicing, which was found to be significantly higher in HCM patients (del/del genotype, p=0.00011; deletion allele, p=0.00008). Further studies on the 5 bp polymorphism in 2092 randomly selected individuals belonging to 39 ethnic and endogamous populations from 19 states of India, and representing the major linguistic Indian families, revealed that the South and the Northwest Indians have a high frequency of 5 bp deletions. The missense mutations in TNNT2 are responsible for 15%-20% of familial HCM by impairing the function of the heart muscle. However, other than the 5 bp polymorphism, our comprehensive study on the Indian HCM patients have lowered the occurrence and overall prevalence of supposedly more aggressive and worst disease causing percentage of missense mutations in TNNT2 dramatically. 相似文献
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It is becoming increasingly clear that parasitic protozoa remain a scourge to humans in the 21st century. The trypanosomes are a diverse group of insect-transmitted parasites that wiggle their way through multiple life cycle stages as they destroy human lives. Exquisitely detailed studies of these organisms reveal basic differences in gene expression that separate these single celled eukaryotes from multicellular eukaryotic organisms and have suggested numerous potential drug targets. 相似文献
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Nitin Roper Shaojian Gao Tapan K. Maity A. Rouf Banday Xu Zhang Abhilash Venugopalan Constance M. Cultraro Rajesh Patidar Sivasish Sindiri Anna-Leigh Brown Alexander Goncearenco Anna R. Panchenko Romi Biswas Anish Thomas Arun Rajan Corey A. Carter David E. Kleiner Stephen M. Hewitt Udayan Guha 《Cell reports》2019,26(10):2651-2666.e6
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Smith RA Fathi Z Achebe F Akuche C Brown SE Choi S Fan J Jenkins S Kluender HC Konkar A Lavoie R Mays R Natoli J O'Connor SJ Ortiz AA Su N Taing C Tomlinson S Tritto T Wang G Wirtz SN Wong W Yang XF Ying S Zhang Z 《Bioorganic & medicinal chemistry letters》2007,17(10):2706-2711
Several imidazole-based cyclohexyl amides were identified as potent CB-1 antagonists, but they exhibited poor oral exposure in rodents. Incorporation of a hydroxyl moiety on the cyclohexyl ring provided a dramatic improvement in oral exposure, together with a ca. 10-fold decrease in potency. Further optimization provided the imidazole 2-hydroxy-cyclohexyl amide 45, which exhibited hCB-1 K(i)=3.7nM, and caused significant appetite suppression and robust, dose-dependent reduction of body weight gain in industry-standard rat models. 相似文献
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Wang JQ Arora A Yang L Parelkar NK Zhang G Liu X Choe ES Mao L 《Molecular neurobiology》2005,32(3):237-249
The ionotropic α-amino-3-hydroxy-5-methylisoxazole-4-propionic acid (AMPA) receptor is densely distributed in the mammalian
brain and is primarily involved in mediating fast excitatory synaptic transmission. Recent studies in both heterologous expression
systems and cultured neurons have shown that the AMPA receptor can be phosphorylated on their subunits (GluR1, GluR2, and
GluR4). All phosphorylation sites reside at serine, threonine, or tyrosine on the intracellular C-terminal domain. Several
key protein kinases, such as protein kinase A, protein kinase C, Ca2+/calmodulin-dependent protein kinase II, and tyrosine kinases (Trks; receptor or nonreceptor family Trks) are involved in
the site-specific regulation of the AMPA receptor phosphorylation. Other glutamate receptors (N-methyl-d-aspartate receptors and metabotropic glutamate receptors) also regulate AMPA receptors through a protein phosphorylation
mechanism. Emerging evidence shows that as a rapid and short-term mechanism, the dynamic protein phosphorylation directly
modulates the electrophysiological, morphological (externalization and internalization trafficking and clustering), and biochemical
(synthesis and subunit composition) properties of the AMPA receptor, as well as protein-protein interactions between the AMPA
receptor subunits and various intracellular interacting proteins. These modulations underlie the major molecular mechanisms
that ultimately affect many forms of synaptic plasticity. 相似文献
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Nicholas Rolston Adam D. Printz Jared M. Tracy Hasitha C. Weerasinghe Doojin Vak Lew Jia Haur Anish Priyadarshi Nripan Mathews Daniel J. Slotcavage Michael D. McGehee Roghi E. Kalan Kenneth Zielinski Ronald L. Grimm Hsinhan Tsai Wanyi Nie Aditya D. Mohite Somayeh Gholipour Michael Saliba Michael Grätzel Reinhold H. Dauskardt 《Liver Transplantation》2018,8(9)
Photoactive perovskite semiconductors are highly tunable, with numerous inorganic and organic cations readily incorporated to modify optoelectronic properties. However, despite the importance of device reliability and long service lifetimes, the effects of various cations on the mechanical properties of perovskites are largely overlooked. In this study, the cohesion energy of perovskites containing various cation combinations of methylammonium, formamidinium, cesium, butylammonium, and 5‐aminovaleric acid is reported. A trade‐off is observed between the mechanical integrity and the efficiency of perovskite devices. High efficiency devices exhibit decreased cohesion, which is attributed to reduced grain sizes with the inclusion of additional cations and PbI2 additives. Microindentation hardness testing is performed to estimate the fracture toughness of single‐crystal perovskite, and the results indicated perovskites are inherently fragile, even in the absence of grain boundaries and defects. The devices found to have the highest fracture energies are perovskites infiltrated into a porous TiO2/ZrO2/C triple layer, which provide extrinsic reinforcement and shielding for enhanced mechanical and chemical stability. 相似文献
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Soujanya D. Yelamanchi Savita Jayaram Joji Kurian Thomas Seetaramanjaneyulu Gundimeda Aafaque Ahmad Khan Anish Singhal T. S. Keshava Prasad Akhilesh Pandey Harsha Gowda 《Journal of cell communication and signaling》2016,10(1):69-75
Glutamate metabolism plays a vital role in biosynthesis of nucleic acids and proteins. It is also associated with a number of different stress responses. Deficiency of enzymes involved in glutamate metabolism is associated with various disorders including gyrate atrophy, hyperammonemia, hemolytic anemia, γ-hydoxybutyric aciduria and 5-oxoprolinuria. Here, we present a pathway map of glutamate metabolism representing metabolic intermediates in the pathway, 107 regulator molecules, 9 interactors and 3 types of post-translational modifications. This pathway map provides detailed information about enzyme regulation, protein-enzyme interactions, post-translational modifications of enzymes and disorders due to enzyme deficiency. The information included in the map was based on published experimental evidence reported from mammalian systems. 相似文献