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111.
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans 总被引:10,自引:0,他引:10
Murdoch S Djuric U Mazhar B Seoud M Khan R Kuick R Bagga R Kircheisen R Ao A Ratti B Hanash S Rouleau GA Slim R 《Nature genetics》2006,38(3):300-302
Hydatidiform mole (HM) is an abnormal human pregnancy with no embryo and cystic degeneration of placental villi. We report five mutations in the maternal gene NALP7 in individuals with familial and recurrent HMs. NALP7 is a member of the CATERPILLER protein family involved in inflammation and apoptosis. NALP7 is the first maternal effect gene identified in humans and is also responsible for recurrent spontaneous abortions, stillbirths and intrauterine growth retardation. 相似文献
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Mavrakis KJ Van Der Meulen J Wolfe AL Liu X Mets E Taghon T Khan AA Setty M Setti M Rondou P Vandenberghe P Delabesse E Benoit Y Socci NB Leslie CS Van Vlierberghe P Speleman F Wendel HG 《Nature genetics》2011,43(7):673-678
The importance of individual microRNAs (miRNAs) has been established in specific cancers. However, a comprehensive analysis of the contribution of miRNAs to the pathogenesis of any specific cancer is lacking. Here we show that in T-cell acute lymphoblastic leukemia (T-ALL), a small set of miRNAs is responsible for the cooperative suppression of several tumor suppressor genes. Cross-comparison of miRNA expression profiles in human T-ALL with the results of an unbiased miRNA library screen allowed us to identify five miRNAs (miR-19b, miR-20a, miR-26a, miR-92 and miR-223) that are capable of promoting T-ALL development in a mouse model and which account for the majority of miRNA expression in human T-ALL. Moreover, these miRNAs produce overlapping and cooperative effects on tumor suppressor genes implicated in the pathogenesis of T-ALL, including IKAROS (also known as IKZF1), PTEN, BIM, PHF6, NF1 and FBXW7. Thus, a comprehensive and unbiased analysis of miRNA action in T-ALL reveals a striking pattern of miRNA-tumor suppressor gene interactions in this cancer. 相似文献
114.
Rubber rabbitbrush ( Chrysothamnus nauseosus [Pallas] Britt. ssp. viridulus ) may prove to be a source of high-quality cis-isoprene rubber, but its establishment is limited by a lack of information on seed germination. Consequently, seeds were germinated at alternating temperatures (5–15, 5–25, 15–25, and 20–30 C) in light and dark as well as constant temperatures (15–40 C with 5-C increments) to determine temperature response. Seeds were also germinated in solutions of polyethylene glycol 6000 (0 to –5 bar), salinity regimes (1, 17, 51, and 86 mM) at all the above-mentioned temperatures to determine salinity and temperature interaction. The hormones GA 3 (0, 2.9, 29.0, and 58.0 um) and kinetin (0, 4.7, 23.5, and 47.0 um) were used to study their effect on overcoming salt- and temperature-induced germination inhibition. Seeds of C. nauseosus ssp. viridulus were very sensitive to low temperature. Best germination was achieved at 25 and 30 C, but these seeds also germinated at a higher temperature (35 C). The seeds of rabbitbrush germinated at both constant and alternating temperatures. Light appears to play little or no role in controlling germination of the seeds of rubber rabbitbrush. However, seeds of rabbitbrush were sensitive to salinity, and seed germination was progressively inhibited by increase in salt concentration, although a few seeds still germinated at the highest saline level. Progressively higher concentrations of polyethylene glycol also progressively inhibited germination. Suppression of seed germination induced by high salt concentrations and high temperatures can be partially alleviated by the application of either GA 3 or kinetin. 相似文献
115.
Sajjad Hussain Yaqoob Khan Volodymyr Khranovskyy Riaz Muhamm Rositza Yakimova 《自然科学进展(英文版)》2013,23(1):44-50
Atmospheric pressure MOCVD was used to deposit ZnO layers on sapphire and homoepitaxial template under different oxygen flow rates.Oxygen content affects the lattice constant value and texture coefficient of the films as evidenced by the θ-2θ peaks position and their intensity.Films deposited at lower oxygen flow rate possess higher value of strain and stresses.ZnO films deposited at high oxygen flow rates show intense UV emissions while samples prepared under oxygen deficient conditions exhibited defect related emission along with UV luminescence.The results are compared to the ZnO films deposited homoepitaxially on annealed ZnO samples.The data obtained suggest that ZnO stoichiometry is responsible for the structural and optical quality of ZnO films. 相似文献
116.
Majid Niaz Akhtar Nadeem Nasir Muhammad Kashif Noorhana Yahy Mukhtar Ahm Ghulam Murtaz Muhammad Azhar Khan M.H.Asif A.Sattar R.Raz M . Saleem S.N.Khan 《自然科学进展(英文版)》2014,24(4):364-372
Electromagnetic signals in deep reservoir are very weak so that it is difficult to predict about the presence of hydrocarbon in seabed logging(SBL) environment.In the present work,Mn0.8Zn0.2Fe2O4 nanoferrites were prepared by a sol–gel technique at different sintering temperatures of450 °C,650 °C and 850 °C to increase the strength of electromagnetic(EM) antenna.XRD,FESEM,Raman spectroscopy and HRTEM were used to analyze the phase,surface morphology and size of the nanoferrites.Magnetic properties of the nanoferrites were also measured using an impedance network analyzer.However,nanoferrites sintered at 850 °C with initial permeability of 200 and Q factor of 50 were used as magnetic feeders with the EM antenna.Lab scale experiments were performed to investigate the effect of magnetic field strength in scale tank.SPSS and MATLAB softwares were also used to confirm the oil presence in scale tank.It was observed that the magnitude of the EM waves for the antenna was increased up to 233%.Finally,the correlation values also show 208% increase in the magnetic field strength with the presence of the oil.Therefore,antenna with Mn0.8Zn0.2Fe2O4 nanoferrites based magnetic feeders can be used for deep water and deep target hydrocarbon exploration. 相似文献
117.
Caitlin Collin Frank Hauser Ernesto Gonzalez de Valdivia Shizhong Li Julia Reisenberger Eva M. M. Carlsen Zaid Khan Niels Ø. Hansen Florian Puhm Leif Søndergaard Justyna Niemiec Magdalena Heninger Guilin R. Ren Cornelis J. P. Grimmelikhuijzen 《Cellular and molecular life sciences : CMLS》2013,70(17):3231-3242
Muscarinic acetylcholine receptors (mAChRs) play a central role in the mammalian nervous system. These receptors are G protein-coupled receptors (GPCRs), which are activated by the agonists acetylcholine and muscarine, and blocked by a variety of antagonists. Mammals have five mAChRs (m1–m5). In this study, we cloned two structurally related GPCRs from the fruit fly Drosophila melanogaster, which, after expression in Chinese hamster ovary cells, proved to be muscarinic acetylcholine receptors. One mAChR (the A-type; encoded by gene CG4356) is activated by acetylcholine (EC50, 5 × 10?8 M) and muscarine (EC50, 6 × 10?8 M) and blocked by the classical mAChR antagonists atropine, scopolamine, and 3-quinuclidinyl-benzilate (QNB), while the other (the B-type; encoded by gene CG7918) is also activated by acetylcholine, but has a 1,000-fold lower sensitivity to muscarine, and is not blocked by the antagonists. A- and B-type mAChRs were also cloned and functionally characterized from the red flour beetle Tribolium castaneum. Recently, Haga et al. (Nature 2012, 482: 547–551) published the crystal structure of the human m2 mAChR, revealing 14 amino acid residues forming the binding pocket for QNB. These residues are identical between the human m2 and the D. melanogaster and T. castaneum A-type mAChRs, while many of them are different between the human m2 and the B-type receptors. Using bioinformatics, one orthologue of the A-type and one of the B-type mAChRs could also be found in all other arthropods with a sequenced genome. Protostomes, such as arthropods, and deuterostomes, such as mammals and other vertebrates, belong to two evolutionarily distinct lineages of animal evolution that split about 700 million years ago. We found that animals that originated before this split, such as cnidarians (Hydra), had two A-type mAChRs. From these data we propose a model for the evolution of mAChRs. 相似文献
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Sajjad Ali Yaseen Iqbal Inamullah Khan Ansar Ullah Muhammad Sadiq Muhammad Fahad Khizar Hussain Shah 《矿物冶金与材料学报》2021,28(2):193-200
Manganese was leached from a low-grade manganese ore (LGMO) using banana peel as the reductant in a dilute sulfuric acid medium. The effects of banana peel amount, H2SO4 concentration, reaction temperature, and time on Mn leaching from the complex LGMO were studied. A leaching efficiency of ~98% was achieved at a leaching time of 2 h, banana peel amount of 4 g, leaching temperature of 120°C, manganese ore amount of 5 g, and sulfuric acid concentration of 15vol%. The phase, microstructural, and chemical analyses of LGMO samples before and after the leaching process confirmed the successful leaching of manganese. Furthermore, the leaching process followed the shrinking core model and the leaching rate was controlled by a surface chemical reaction (1 ? (1 ? x)1/3 = kt) mechanism with an apparent activation energy of 40.19 kJ·mol?1. 相似文献
120.
Scherer SE Muzny DM Buhay CJ Chen R Cree A Ding Y Dugan-Rocha S Gill R Gunaratne P Harris RA Hawes AC Hernandez J Hodgson AV Hume J Jackson A Khan ZM Kovar-Smith C Lewis LR Lozado RJ Metzker ML Milosavljevic A Miner GR Montgomery KT Morgan MB Nazareth LV Scott G Sodergren E Song XZ Steffen D Lovering RC Wheeler DA Worley KC Yuan Y Zhang Z Adams CQ Ansari-Lari MA Ayele M Brown MJ Chen G Chen Z Clerc-Blankenburg KP Davis C Delgado O Dinh HH Draper H Gonzalez-Garay ML Havlak P Jackson LR Jacob LS 《Nature》2006,440(7082):346-351
Human chromosome 12 contains more than 1,400 coding genes and 487 loci that have been directly implicated in human disease. The q arm of chromosome 12 contains one of the largest blocks of linkage disequilibrium found in the human genome. Here we present the finished sequence of human chromosome 12, which has been finished to high quality and spans approximately 132 megabases, representing approximately 4.5% of the human genome. Alignment of the human chromosome 12 sequence across vertebrates reveals the origin of individual segments in chicken, and a unique history of rearrangement through rodent and primate lineages. The rate of base substitutions in recent evolutionary history shows an overall slowing in hominids compared with primates and rodents. 相似文献