排序方式： 共有104条查询结果，搜索用时 31 毫秒
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Background:Hearing loss, a congenital genetic disorder in human, is difficult to diagnose. WES is a powerful approach for ethiological disgnosis of such disorders. Methods:One Iranian family with two patients were attented in the study. Sequencing of known NSHL genes was carried out to recognize the genetic causes of HL. Results:Molecular analyses identified a novel stop loss mutation, c.1048T>G (p.Term350Glu), whitin the P2RX2 gene, causing a termination-site modification.This event would lead to continued translation into the 3'' UTR of the gene, which in turn may result in a longer protein product. The mutation was segregating with the disease phenotype and predicted to be pathogenic by bioinformatic tools. Conclusion:This study is the first Iranian case report of a diagnosis of ADNSHL caused by P2RX2 mutation. The recognition of other causative mutations in P2RX2 gene more supports the probable function of this gene in causing ADNSHL. Key Words: Autosomal dominant 41, Deafness, Mutation, P2RX2, Whole exome sequencing 相似文献
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Javad Sadeghinezhad Mahdi Aghabalazadeh Asl Ava Saeidi Margherita De Silva 《Anatomia, histologia, embryologia》2020,49(6):788-797
The objective of the present study was to investigate the morphometrical features of the cat cerebellum using design-based stereology. Cerebellar hemispheres from four male cats were examined. Isotropic, uniform random sections were obtained and processed for light microscopy. Cerebellar total volume (V), white (WM) and grey matter (GM) volume fractions, and the volumes of the molecular and granular layers were measured using the Cavalieri's estimator and the point counting system. Cerebellar surface area was estimated using test lines, and Purkinje cellular and nuclear volumes were analysed using the nucleator technique. The volume of the cat cerebellar hemispheres was 2.06 ± 0.29 cm3. The relative volume fractions of the GM and WM were 70.6 ± 2.6% and 29.3 ± 2.6%, respectively. The surface area of the cerebellar hemisphere was 68.2 ± 17.8 cm2. The volumes of the molecular and granular layers were estimated at 0.89 ± 0.16 cm3 and 0.56 ± 0.1 cm3, respectively. The Purkinje cell volumes were found to be ranging from 1,717 to 28,489 µm3, of which cells with a perikaryon volume of 6,994 µm3 had a higher incidence. The Purkinje nuclear volume was estimated at 440–3,561 µm3, and nuclei with a volume of 1,252 µm3 were the most frequently occurring ones. Our data might contribute to the veterinary comparative neuroanatomy knowledge, help develop experimental studies in this field, and possibly lead to advancement in the diagnosis and treatment of nervous diseases in the cat. 相似文献
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Mohammad Hossein Izadi Javad Rabbani Yahya Emam Mohammad Pessarakli Ahmad Tahmasebi 《Journal of plant nutrition》2014,37(4):520-531
An experiment with factorial arrangement of treatments on a randomized complete block (RCB) design basis with three replications was conducted in a greenhouse during Spring 2010 to investigate changes in sodium ion (Na+), potassium ion (K+), Na+/K+ and to determine proline, protein content, and superoxide dismutase (SOD) of four wheat and four barley cultivars. Three salt levels {1, control (no salt), 7, and 13 dS m?1 [2.5 and 5 g salt [sodium chloride (NaCl) and sodium sulfate (Na2SO4) in 1:1 ratio] per kg of soil, respectively]} were used in this investigation. Salt stress treatments were applied 4 weeks after planting (at 2 leaf stage). Leaf samples were taken four weeks after imposition of salt treatment. The results showed that salinity caused an increased in proline and protein content, and SOD in all wheat and barley cultivars. The highest proline and protein content of barley and wheat cultivars at all salinity levels were observed in ‘Nimrooz’ and ‘Bam’ cultivars, respectively. At all salinity levels, wheat and barley cultivars ‘Kavir’ and ‘Nimrooz’, respectively, had the lowest Na+ content. Barley cultivar ‘Kavir’ and wheat cultivar ‘Bam’ had higher K+ and K+:Na+ ratios. This might be related to salt tolerance in these two cultivars. Wheat and barley cultivars showed differences with regard to proline, protein, and SOD content, Na+, K+, and K+:Na+ ratio, indicating existence of genetic diversity among the cultivars. These findings indicated that higher K+, K+:Na+ ratio, proline, protein, and SOD content could be the key factors, which offer advantage to barley over wheat for superior performance under saline conditions. 相似文献
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F. Zadsalehimasouleh V. Mozafari A. Tajabadipour H. Hokmabadi 《Journal of plant nutrition》2014,37(6):889-906
Crop production in many parts of the world is increasingly affected by soil salinization, especially in the irrigated fields of arid and semi-arid regions. The effects of four magnesium levels [0, 0.5, 1, and 22 millliMolar (mM) magnesium as magnesium sulfate (MgSO4.5H2O)], and three salinity levels [0, 45 and 90 mM sodium chloride (NaCl)] on growth and the chemical composition of pistachio seedlings (Pistacia vera L.) cv. ‘Badami-e-Zarand’ was studied in sand culture under greenhouse conditions. The experiment was set up as a completely randomized design (CRD) with four replications. After 28 weeks the growth parameters of biomass, leaf number, leaf area and stem height were measured. The results demonstrated that salinity decreased biomass, leaf area and stem height; the application of 2 mM magnesium (Mg) significantly reduced biomass, leaf number, leaf area and stem height; salinity stress increased concentrations of sodium (Na) and potassium (K) in shoot as well as Na concentration in root; however, it decreased Mg and calcium (Ca) concentrations in shoot, as well as Mg, Ca, and K concentrations in root. The application of 2 mM Mg reduced K and Ca concentrations in shoot and Na and K concentrations in root. 相似文献
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F. Hojjatnooghi V. Mozafari A. Tajabadipour H. Hokmabadi 《Journal of plant nutrition》2014,37(6):928-941
Poor quality of irrigation water (high salinity) has reduced the yields of pistachio over recent years, especially in Kerman. The effects of four salinity levels [0, 30, 60, and 90 mM sodium chloride (NaCl)] and three calcium (Ca) levels [0, 0.5, and 1 mM Ca as calcium nitrate (Ca(NO3)2.4H2O)] on growth and chemical composition of pistachio seedlings cv. ‘Badami’ were studied in sand culture under greenhouse conditions in completely randomized design (CRD) with four replications. After 170 days, leaf area, leaf number, shoot and root dry weights were determined. Also shoot and root sodium (Na), potassium (K), Ca, and magnesium (Mg) concentrations were measured. Results showed salinity decreased all growth parameters. Ca application increased shoot and root Ca concentrations and root K concentration, while Ca application decreased shoot K concentration and shoot and root Mg concentrations. Salinity decreased shoot Ca, root K, and root Mg concentrations, while salinity increased shoot and root total sodium uptake, and shoot and root Cl concentrations. 相似文献
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Babak Darvishi Kazem Pustini Ali Ahmadi Reza Tavakol Afshari Javad Shaterian Mohammad Hadi Jahanbakhshpour 《Journal of plant nutrition》2015,38(13):2096-2111
Under hydroponic condition, number and size of potato tubers are usually controlled by nutritional factors such as nitrogen (N), phosphorus (P), and pH. The main objective of the present study was to find an appropriate combination of N, P, and pH (with respect to tuber number) under hydroponic sand culture and to evaluate the physiological traits affected by nutrients and pH. A factorial experiment based on completely randomized design with four replications was conducted. Results showed that higher phosphorus concentration for 10 days increased tuber number per plant, but tuberization was not influenced by nitrogen interruption and intermittent reduction of pH. Neither N, P, nor pH treatments affected total nitrogen concentration of potato leaf, stem, and tuber. Higher phosphorus concentration increased the level of endogenous abscisic acid (ABA) and indole-3-acetic acid (IAA), induced tuberization and thereby increased net photosynthesis rate of potato plants. 相似文献
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Leila Izadi Najafabadi Alain Le-Bail Nasser Hamdami Jean-Yves Monteau Javad Keramat 《Journal of Cereal Science》2014
Bread staling involves a combination of physico-chemical phenomena that leads to a reduction of quality. This study aims at evaluating the impact of baking conditions (280 °C, 8 min; 310 °C, 5.5 min; 340 °C, 4 min), baking type (of fully baked (FB) and part-baked (PB)) and storage temperature (−18, 4 and 20 °C) on the staling of Sangak bread. Results showed that lower baking temperature with longer baking time produced drier bread with higher firmness. In FB Sangak breads, amylopectin retrogradation, amount of unfreezable water and firmness (measured by compression test) increased during storage at positive temperatures but hardness (determined by Kramer shear test) decreased significantly during first day of storage. The recrystallized amylopectin traps the free water resulting in crumb hardening. Water is also absorbed by the dry crust resulting in changes of rheological properties in the crust and crumb, and finally in staling. Storage at 4 °C resulted in increasing melting enthalpy of amylopectin crystallite in comparison with storage at 20 °C. Also it was found that firmness of PB breads due to rebaking was significantly lower than FB breads. There were no significant changes in staling parameters of FB and PB stored at −18 °C. 相似文献
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Mehdi Ghahartars Shabnam Abtahi Zahra Zeinali Mohammad Javad Fattahi Abbas Ghaderi 《Iranian Biomedical Journal》2021,25(2):88
Background:TNF-α and IL-6 are both pleiotropic cytokines playing major roles in cancer-associated cytokine networks. They have previously been investigated for their function in skin malignancies, mostly melanomas, and studies on NMSC patients are relatively rare. In this study, we aimed to assess the associations of serum levels of IL-6 and TNF-α with NMSCs and its clinicopathological features. Methods:This cases-control study was carried out to investigate the serum levels of TNF-α and IL-6 in 70 NMSC patients, in comparison with 30 healthy individuals, by means of flow cytometric bead-based immuneoassay. Results:Serum levels of both TNF-α and IL-6 were significantly higher in NMSC patients (6.470 vs. 4.355 pg/ml; p = 0.0468, respectively), compared to healthy individuals (3.205 vs. 0.000 pg/ml; p = 0.0126, respectively). In the subgroup analysis, SCC patients had higher serum levels of IL-6 compared to healthy individuals (3.445 vs. 0.000 pg/ml; p = 0.0432). No other significant differences were observed in the serum levels of these two cytokines among different clinicopathological subgroups of the patients. Conclusion:The increased levels of TNF-α and IL-6 in NMSC patients can be introduced as an epiphenomenon of a complex cancer-induced cytokine cascade. Key Words: Biomarkers, Cytokines, Interleukin-6, Tumor Necrosis Factor-alpha 相似文献