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81.
Andrew J. Donnelly Michael W. Partington Anna K. Ryan John C. Mulley 《American journal of medical genetics. Part A》1996,64(1):113-120
Two genes responsible for X-linked mental retardation have been localised by linkage analysis. MRX30 maps to a 28 cM region flanked by the loci DXS990 (Xq21.3) and DXS424 (Xq24). A significant multipoint lod score of 2.78 was detected between the loci DXS1120 and DXS456. MRX31 maps to a 12 cM region that spans the centromere from DXS1126 (Xp11.23) to DXS1124 (Xq13.3). Significant two-point lod scores, at a recombination fraction of zero, were obtained with the loci DXS991 (Zmax = 2.06), AR (Zmax = 3.44), PGK1P1 (Zmax = 2.06) and DXS453 (Zmax = 3.31). The MRX30 localisation overlaps that of MRX8, 13, 20 and 26 and defines the position of a new MRX gene on the basis of a set of non-overlapping regional localisations. The MRX31 localisation overlaps the localisations of many of the pericentromeric MRX loci (MRX, 1, 4, 5, 7, 8, 9, 12, 13, 14, 15, 17, 20, 22 and 26). There are now at least 8 distinct loci associated with non-specific mental retardation on the X chromosome defined, in order from pter to qter, by localisation for MRX24, MRX2, MRX10, MRX1, MRX30, MRX27, FRAXE and MRX3. © 1996 Wiley-Liss, Inc. 相似文献
82.
Kevin K. McCully Benjamin H. Natelson Stefano Iotti Sueann Sisto John S. Leigh 《Muscle & nerve》1996,19(5):621-625
The purpose of this study was to determine if chronic fatigue syndrome (CSF) is characterized by abnormalities in oxidative muscle metabolism. Patients with CFS according to Centers for Disease Control (CDC) criteria (n = 22) were compared to normal sedentary subjects (n = 15). CFS patients were also tested before and 2 days after a maximal treadmill test. Muscle oxidative capacity was measured as the maximal rate of postexercise phosphocreatine (PCr) resynthesis using the ADP model (Vmax) in the calf muscles using 31P magnetic resonance spectroscopy. Vmax was significantly reduced in CFS patients (39.6 ± 2.8 mmol/L/min, mean ± SE) compared to controls (53.8 ± 2.8 mmol/L/min). Two days postexercise there was no change in resting inorganic phosphate (Pi)/PCr or Vmax in the CFS patients (n = 14). In conclusion, oxidative metabolism is reduced in CFS patients compared to sedentary controls. In addition, a single bout of strenuous exercise did not cause a further reduction in oxidative metabolism, or alter resting Pi/PCr ratios. © 1996 John Wiley & Sons, Inc. 相似文献
83.
Lin Yang Xiaohua Liu Liying Zhang Xue Li Xinwei Zhang Guoyu Niu Weilong Ji Si Chen Hongsheng Ouyang Linzhu Ren 《Viruses》2022,14(1)
Tripartite motif protein 21 (TRIM21) is an interferon-inducible E3 ligase, containing one RING finger domain, one B-box motif, one coiled-coil domain at the N-terminal, as well as one PRY domain and one SPRY domain at the C-terminal. TRIM21 is expressed in many tissues and plays an important role in systemic autoimmunity. However, TRIM21 plays different roles in different virus infections. In this study, we evaluate the relationship between porcine TRIM21 and PCV2 infection as well as host immune responses. We found that PCV2 infection modulated the expression of porcine TRIM21. TRIM21 can enhance interferons and proinflammatory factors and decrease cellular apoptosis in PCV2-infected cells. These results indicate that porcine TRIM21 plays a critical role in enhancing PCV2 infection, which is a promising target for controlling and developing the treatment of PCV2 infection. 相似文献
84.
Magnesium alloys are attractive for the production of lightweight parts in modern automobile and aerospace industries due to their advanced properties. Their mechanical properties are usually enhanced by the incorporation with reinforcement particles. In the current study, reinforced AZ31 magnesium alloy was fabricated through the addition of bulk Al and the incorporation of SiC nanoparticles using a stir casting process to obtain AZ31-SiC nanocomposites. Scanning electron microscope (SEM) investigations revealed the formation of Mg17Al12 lamellar intermetallic structures and SiC clusters in the nanocomposites. Energy dispersive spectroscopy (EDS) detected the uniform distribution of SiC nanoparticles in the AZ31-SiC nanocomposites. Enhancements in hardness and yield strength (YS) were detected in the fabricated nanocomposites. This behavior was referred to a joint strengthening mechanisms which showed matrix-reinforcement coefficient of thermal expansion (CTE) and elastic modulus mismatches, Orowan strengthening, and load transfer mechanism. The mechanical properties and wear resistance were gradually increased with an increase in SiC content in the nanocomposite. The maximum values were obtained from nanocomposites containing 1 wt% of SiC (AZ31-1SiC). AZ31-1SiC nanocomposite YS and hardness were improved by 27% and 30%, respectively, compared to AZ31 alloy. This nanocomposite also exhibited the highest wear resistance; its wear mass loss and depth of the worn surface decreased by 26% and 15%, respectively, compared to AZ31 alloy. 相似文献
85.
Sung-Min Park Gun-Wook Kim Hoon-Soo Kim Hyun-Chang Ko Moon-Bum Kim Byung-Soo Kim 《ANNALS OF DERMATOLOGY》2020,32(1):1
BackgroundPruritus is a common symptom in psoriasis. However, few studies have assessed the characteristics of pruritus according to morphological phenotypes of psoriasis.ObjectiveTo investigate the characteristics of pruritus according to morphological phenotypes of psoriasis and to assess the association with inflammatory mediators related to pruritus.MethodsPsoriasis patients were divided into 2 groups according to clinical phenotype: eruptive inflammatory (EI) and chronic stable (CS). Clinical data of pruritus were assessed by an itch questionnaire. Serum neuropeptides and cytokines including substance P, histamine, vasoactive intestinal peptide, neuropeptide Y, calcitonin gene-related peptide and interleukin-31 (IL-31) were quantitatively measured.ResultsIn total, 50 patients with psoriasis (30 male, 20 female; mean age, 45.7 years) were studied (EI, n=15 and CS, n=35). Pruritus was reported by 80% of EI and CS patients. There were no significant differences in prevalence of pruritus, pruritus intensity, severity of psoriasis, serum neuropeptides, or IL-31 between the 2 groups.ConclusionThe morphological phenotype does not seem to be an important factor affecting the prevalence and characteristics of pruritus in psoriasis. 相似文献
86.
87.
Jinlan He Jianxiong He Li Min Yan He Hui Guan Jingjing Wang Xingchen Peng 《International journal of cancer. Journal international du cancer》2020,146(4):1052-1063
Sorafenib provides survival benefits in patients with advanced renal cell carcinoma (RCC), but its use is hampered by acquired drug resistance. It is important to fully clarify the molecular mechanisms of sorafenib resistance, which can help to avoid, delay or reverse drug resistance. Extracellular vesicles (EVs) can mediate intercellular communication by delivering effector molecules between cells. Here, we studied whether EVs are involved in sorafenib resistance of RCC and its possible molecular mechanisms. Using differential centrifugation, EVs were isolated from established sorafenib-resistant RCC cells (786-0 and ACHN), and EVs derived from sorafenib-resistant cells were uptaken by sensitive parental RCC cells and thus promoted drug resistance. Elevated exogenous miR-31-5p within EVs effectively downregulated MutL homolog 1 (MLH1) expression and thus promoted sorafenib resistance in vitro. Mice experiments also confirmed that miR-31-5p could mediate drug sensitivity in vivo. In addition, low expression of MLH1 was observed in sorafenib-resistant RCC cells and upregulation of MLH1 expression restored the sensitivity of resistant cell lines to sorafenib. Finally, miR-31-5p level in circulating EVs of RCC patients with progressive disease (PD) during sorafenib therapy was higher when compared to that in the pretherapy status. In conclusion, EVs shuttled miR-31-5p can transfer resistance information from sorafenib-resistant cells to sensitive cells by directly targeting MLH1, and thus magnify the drug resistance information to the whole tumor. Furthermore, miR-31-5p and MLH1 could be promising predictive biomarkers and therapeutic targets to prevent sorafenib resistance. 相似文献
88.
89.
C. Kornblum R. Schröder K. Müller M. Vorgerd J. Eggers M. Bogdanow A. Papassotiropoulos K. Fabian T. Klockgether J. Zange 《European journal of neurology》2005,12(4):300-309
The purpose of our randomized, double-blind, placebo-controlled crossover study in 15 patients with chronic progressive external ophthalmoplegia (CPEO) or Kearns-Sayre syndrome (KSS) because of single large-scale mitochondrial (mt) DNA deletions was to determine whether oral creatine (Cr) monohydrate can improve skeletal muscle energy metabolism in vivo. Each treatment phase with Cr in a dosage of 150 mg/kg body weight/day or placebo lasted 6 weeks. The effect of Cr was estimated by phosphorus-31 magnetic resonance spectroscopy ((31)P-MRS), clinical and laboratory tests. (31)P-MRS analysis prior to treatment showed clear evidence of severe mitochondrial dysfunction. However, there were no relevant changes in (31)P-MRS parameters under Cr. In particular, phosphocreatine (PCr)/ATP at rest did not increase, and there was no facilitation of post-exercise PCr recovery. Clinical scores and laboratory tests did not alter significantly under Cr, which was tolerated without major side-effects in all patients. Cr supplementation did not improve skeletal muscle oxidative phosphorylation in our series of patients. However, one explanation for our negative findings may be the short study duration or the limited number of patients included. 相似文献
90.