Abstract:The human α-globin gene cluster lies close to the telomere of the short arm on chromosome 16. Copy number variations (CNVs) of this region produce excessive or insufficient α-globin chains which imbalances the β-globin chains, resulting in thalassemia. However, these CNVs usually cannot be precisely defined by traditional methods. Here, we designed a technique strategy and applied it to identify two CNVs involving the α-globin gene cluster causing thalassemia in two Chinese families. A novel 282kb duplication (αααα282) was identified in family A and a novel 235kb deletion (--235) in family B. Proband A is a coinheritance of βCD41-42 and αααα282 and showed severe β-thalassemia intermedia phenotype. Proband B is a compound heterozygote of --235/αCSα genotype and was diagnosed with hemoglobin H disease. The clinical phenotypic features of the CNVs carriers were described, together with a complete picture of molecular structure of these rearrangements. Two CNVs are novel rearrangements in α-globin clusters and the αααα282 is the first to identify the exact insert position of a duplication region from the telomere on chromosome 16. The identification and characterization of these two novel CNVs demonstrates the precision and effectiveness of our strategy in analyzing the structure of unknown CNVs.

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	1. Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families
	HU Lingling,SHANG Xuan,YI Sheng,CAI Ren,LI Zhetao,LIU Cuixian,LIANG Yidan,CAI Decheng,ZHANG Feng,Xu Xiangmin
	Basic Medicine 29 May 2016
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	Abstract:The human α-globin gene cluster lies close to the telomere of the short arm on chromosome 16. Copy number variations (CNVs) of this region produce excessive or insufficient α-globin chains which imbalances the β-globin chains, resulting in thalassemia. However, these CNVs usually cannot be precisely defined by traditional methods. Here, we designed a technique strategy and applied it to identify two CNVs involving the α-globin gene cluster causing thalassemia in two Chinese families. A novel 282kb duplication (αααα282) was identified in family A and a novel 235kb deletion (--235) in family B. Proband A is a coinheritance of βCD41-42 and αααα282 and showed severe β-thalassemia intermedia phenotype. Proband B is a compound heterozygote of --235/αCSα genotype and was diagnosed with hemoglobin H disease. The clinical phenotypic features of the CNVs carriers were described, together with a complete picture of molecular structure of these rearrangements. Two CNVs are novel rearrangements in α-globin clusters and the αααα282 is the first to identify the exact insert position of a duplication region from the telomere on chromosome 16. The identification and characterization of these two novel CNVs demonstrates the precision and effectiveness of our strategy in analyzing the structure of unknown CNVs.
	TO cite this article:HU Lingling,SHANG Xuan,YI Sheng, et al. Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families[OL].[29 May 2016] http://en.paper.edu.cn/en_releasepaper/content/4691436


	2. 3D rotary culture system augment megakaryopoiesis and thrombopoiesis
	YANG Yiqing,Liu Cuicui,Lei Xiaohua,Zhou Jiaxi
	Basic Medicine 25 November 2015
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	Abstract:Platelets transfusion has been widely used by patients undergoing chemotherapy or radiotherapy, but the shortage of platelet supply limits the care of patients. While derivation of clinical-scale platelets in vitro would provide new source for transfusion, devices and procedures for deriving scalable platelets for clinical applications have not been established. In this study, we found that a rotary cell culture system (RCCS) can potentiate megakaryopoiesis and significantly improve the efficiency of platelet generation. Shear force, simulated microgravity and better diffusion of nutrients and oxygen from RSCCS altogether may account for the improved efficient platelet generation. The cost-effective and highly controllable strategy and methodology represent an important step toward large-scale platelet production for future biomedical and clinical applications.?
	TO cite this article:YANG Yiqing,Liu Cuicui,Lei Xiaohua, et al. 3D rotary culture system augment megakaryopoiesis and thrombopoiesis[OL].[25 November 2015] http://en.paper.edu.cn/en_releasepaper/content/4664369

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	3. Markers in diagnosis of lung cancer: Several common detection methods
	LIN Liquan,ZHANG Xi,ZOU Yingchang,LU Yanli,WANG Ping,CHEN Xing
	Basic Medicine 09 September 2015
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	Abstract:There's an old saying in China that people turn pale at the mention of a tiger. Today, people will turn pale at the mention of lung cancer because of its high morbidity and high mortality. Fortunately, studies have found lots of markers that can be applied in observational and analytic epidemiology, randomized clinical trials, screening, diagnosis and prognosis of lung cancer. Those markers are including proteins in serum, volatile organic compounds (VOCs) in exhaled breath, exhaled breath condensates (EBCs), gene expression, microRNAs, and medical imaging indices. At the same time, various detection techniques were used to measure the markers. With the effort of researchers, a better detection of lung cancer will be realized by combining different markers in different stages. Developing detection techniques will bring novel machines that are more rapid, more accurate, more robust and more comfort for the diagnosis of lung cancer patient.
	TO cite this article:LIN Liquan,ZHANG Xi,ZOU Yingchang, et al. Markers in diagnosis of lung cancer: Several common detection methods[OL].[ 9 September 2015] http://en.paper.edu.cn/en_releasepaper/content/4654285


	4. Evaluation of Scutellaria barbata D.Don ethanol extract and its components on antitumor effects of low dose 5-fluorouracil against hepatocellular carcinoma cells
	XU Huanli,DU Guanhua
	Basic Medicine 30 December 2014
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	Abstract:Background: Some compounds derived from Chinese medicine have demonstrated prospective roles in sensitization to chemotherapy. Aim: This study aimed to investigate Scutellaria barbata D.Don ethanol extract (SBEE) and its components on antitumor effects of low dose 5-fluorouracil against hepatocellular carcinoma cells. Methods: The antitumor effects of SBEE and its components, and their combinations with 5-FU were detected by 3-(4,5-dimethylthiazol-2-yl)-5-(3-carboxymethoxyphenyl)-2-(4-sulfophenyl)-2H-tetrazolium/phenazine methosulfate assay, and the effects of drug combinations were evaluated using Jin's formula. Results:SBEE and luteolin could inhibit tumor growth in time and dose dependent manners. Drug combination study showed that SBEE and luteolin could synergize the antitumor effects of 5-fluorouracil at different dose ratios against HepG2 and Bel-7402 cells.Conclusion: SBEE and luteolin showed synergistic antitumor effects when combined with low dose 5-FU, and the mechanism of the synergistic effect remains to be to be studied.
	TO cite this article:XU Huanli,DU Guanhua. Evaluation of Scutellaria barbata D.Don ethanol extract and its components on antitumor effects of low dose 5-fluorouracil against hepatocellular carcinoma cells[OL].[30 December 2014] http://en.paper.edu.cn/en_releasepaper/content/4625638


	5. Inhibition of the mevalonate pathway ameliorates anoxia-induced down-regulation of FKBP12.6 and intracellular calcium handling dysfunction in H9c2 cells
	YANG Ying,LV Xue,Rong Xiqing,LAI Dongwu,FU Guosheng
	Basic Medicine 16 November 2014
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	Abstract:Statins have beneficial pleiotropic effects beyond lipid lowering on the cardiovascular system. These cardio-protective effects are mediated through inhibition of the intracellular mevalonate pathway, by decreasing isoprenoid intermediates synthesis and the subsequent post-translational modification of small GTPases, such as Ras, Rho, and Rac. Impaired intracellular calcium handling is considered an important physiopathologic mechanism responsible for cardiac dysfunction. Our study aimed at investigating the influence of mevalonate pathway, including its downstream small GTPases (Ras, RhoA, and Rac1) on anoxia-mediated alterations of calcium handling in H9c2 cardiomyocytes. Cultured H9c2 cardiomyocytes were exposed to acute anoxia after pretreatment with different drugs that specifically antagonize five key components in the mevalonate pathway, including 3-hydroxy-3-methylgutaryl-CoA reductase, farnesyl pyrophosphate synthase, Rho-kinase, Rac1 and Ras farnesyltransferase. Thereafter, we evaluated the effects of t?he mevalonate pathway on anoxia-induced cell death, expression of the sarcoplasmic reticulum calcium release channel (ryanodine receptor 2) and its regulator FK506-binding protein 12.6. Our experiments confirmed the role of prenylated proteins in regulating cardiomyocyte dysfunction, especially via RhoA- and Ras-related signaling pathways. Furthermore, our data demonstrated that inhibition of the mevalonate pathway could ameliorate anoxia-mediated calcium handling dysfunction with the up-regulated expression of FK506-binding protein 12.6 and consequently provided evidence for FK506-binding protein 12.6 as a "stabilizer" of ryanodine receptor 2.
	TO cite this article:YANG Ying,LV Xue,Rong Xiqing, et al. Inhibition of the mevalonate pathway ameliorates anoxia-induced down-regulation of FKBP12.6 and intracellular calcium handling dysfunction in H9c2 cells[OL].[16 November 2014] http://en.paper.edu.cn/en_releasepaper/content/4618949


	6. Heat shock treatment regulates the expression of NFKBIA (IκBα) in a post-transcriptional manner
	Mei Zhuzhong,Li Tao,Wang Ni,Chen Xinyu,Ou Xiaoli,Jiang Yong
	Basic Medicine 08 January 2014
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	Abstract:IκBα, encoded by NFKBIA, is the prototype inhibitor of transcription factor NF-κB. Notably, the transcription of NFKBIA is directly regulated by NF-κB. In contrast, the contribution of post-transcriptional regulation in the expression of NFKBIA remains obscure. To elucidate the post-transcriptional regulation of NFKBIA, we first aligned the 3?-UTR from several different species (human, mouse, rat, dog and cow). The alignment results revealed that the 3?-UTR sequences were highly conserved among these analyzed species. Dual luciferase assay analysis showed that 3?-UTR of mouse NFKBIA downregulated the expression of associated luciferase gene. Heat shock treatment stabilized NFKBIA mRNA and promote the expression of luciferase gene associated with mouse NFKBIA 3?-UTR. Biotin-labeled RNA pulldown assay followed mass spectrometry analysis identified specific binding proteins to the 3?-UTR of mouse NFKBIA mRNA. Half of them were identified as ribosomal proteins of 40S and 60S ribosome subunits.
	TO cite this article:Mei Zhuzhong,Li Tao,Wang Ni, et al. Heat shock treatment regulates the expression of NFKBIA (IκBα) in a post-transcriptional manner[OL].[ 8 January 2014] http://en.paper.edu.cn/en_releasepaper/content/4581250


	7. Interleukin-6 Regulates Voltage-Gated Sodium channels in a Time- and Dose-Dependent Manner in Rat Cortical Neurons
	SHENG Jiangtao,GAO fenfei,CHEN Weiqiang,DENG Lijuan,GUO Jingfang,WANG Gefei,DAI Jianping,HUANG Zhengyi,SHI Ganggang,LI Kangsheng
	Basic Medicine 10 January 2013
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	Abstract:The cytokine interleukin-6 (IL-6) is expressed at elevated levels within the CNS in many neurological disorders and may contribute to the histopathological, pathophysiological, and cognitive deficits associated with such disorders. However, the effects of chronic IL-6 exposure on neuronal function in the CNS are largely unknown. A voltage-gated Na+ channel is essential for the excitability and electrical properties of neurons. Therefore, using patch-clamp recording we investigated the effects of chronic IL-6 exposure on voltage-gated Na+ channels. Our results showed that IL-6 suppressed Na+ currents through its receptor in a time- and dose-dependent manner, but did not alter the voltage-dependent activation and inactivation. The spike amplitude was also inhibited by IL-6 in the doses that decreased Na+ currents. The present data reveals chronic exposure to elevated levels of IL-6, such as occurs in various neurological diseases, produces inhibition in the voltage-gated Na+ channels without the alterations in single-channel characteristics. The results support the hypothesis that chronic IL-6 exposure can disrupt normal CNS function and thereby contribute to the pathophysiology associated with many neurological diseases.
	TO cite this article:SHENG Jiangtao,GAO fenfei,CHEN Weiqiang, et al. Interleukin-6 Regulates Voltage-Gated Sodium channels in a Time- and Dose-Dependent Manner in Rat Cortical Neurons[OL].[10 January 2013] http://en.paper.edu.cn/en_releasepaper/content/4513574


	8. Induction of cytopathic effect and cytokines in coxsackievirus B3-infected murine astrocytes
	ZENG Jun,WANG Gefei,LI Weizhong,CHEN Xiaoxuan,XIN Gang,ZHANG Dangui,JIANG Zhiwu,LI Kangsheng
	Basic Medicine 09 January 2013
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	Abstract:Coxsackievirus commonly infects children and occasionally causes severe meningitis and/or encephalitis in the newborn. The underlying mechanism(s) behind the central nervous system pathology is poorly defined. It is hypothesized that astrocytes may be involved in inflammatory response induced by CVB3 infection. Here we discuss this hypothesis in the context of CVB3 infection and associated inflammatory response in primary mouse astrocytes. CVB3 infected and replicated in astrocytes, with release of infectious virus particles. CVB3 induced cytopathic effect (CPE) and production of proinflammatory cytokines IL-1β, TNF-α, IL-6, and chemokine CXCL10 from astrocytes. These data suggest that direct astrocyte damage and cytokines induction could be a mechanism of virus-induced neuropathology.
	TO cite this article:ZENG Jun,WANG Gefei,LI Weizhong, et al. Induction of cytopathic effect and cytokines in coxsackievirus B3-infected murine astrocytes[OL].[ 9 January 2013] http://en.paper.edu.cn/en_releasepaper/content/4513097


	9. Selective alpha 1- and alpha 2-adrenoreceptor agonist on galanin expression in cultured dorsal root ganglion neurons
	LIU Zhen,LI Zhenzhong
	Basic Medicine 27 December 2012
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	Abstract:In this paper, the effects of selective alpha 1- or alpha 2-adrenoreceptor agonist on galanin (Gal) expression in dorsal root ganglion (DRG) neurons were investigated. Alpha-adrenoreceptors are expressed in sympathetic neurons. Interestingly, functional alpha-adrenoreceptors are also expressed in DRG primary sensory neurons and regulate neurogenic inflammation and nociceptive responses. Gal is involved in inflammation and nociception. Whether selective alpha 1- or alpha 2-adrenoreceptor agonist affects Gal expression in DRG neurons is still unclear. In the present study, primary cultured DRG neurons were used to determine effects of alpha 1-adrenoreceptor agonist phenylephedrine (10-5 mol/L) or alpha 2-adrenoreceptor agonist clonidine (10-5 mol/L) on Gal and its mRNA expression. The results showed that alpha 1-adrenoreceptor agonist phenylephedrine promoted Gal mRNA and Gal peptide expression after 4 days incubation. Alpha 2-adrenoreceptor agonist clonidine did not have significant effect on Gal and its mRNA expression. These results imply that activation of alpha 1-adrenoreceptor, but not alpha 2-adrenoreceptor, was involved in Gal expression. These effects may be relevant to noradrenergic pain modulation.
	TO cite this article:LIU Zhen,LI Zhenzhong. Selective alpha 1- and alpha 2-adrenoreceptor agonist on galanin expression in cultured dorsal root ganglion neurons[OL].[27 December 2012] http://en.paper.edu.cn/en_releasepaper/content/4509467


	10. Tim-2 Up-regualtion and Galectin-9-Tim-3 Pathway Activation in Th2-Biased
	QI Yao,SONG Xiaorong,SHEN Jilong,XU Yuanhong,SHEN Qian,LUO Qingli,ZHONG Zhengrong,WANG Wei,CHU Deyong,SONG Wenjian
	Basic Medicine 07 March 2012
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	Abstract:T cell immunoglobulin domain and mucin domain (Tim) family, a new gene that expresses on the surface of T cells, plays a critical role in regulation of T cells response. Previous data have shown that Tim-3 expressed on Th1 cells promotes itself apoptosis. Tim-2 is preferentially up-regulated during Th2 differentiation and functions as a potent costimulatory molecule for T-cell immunity. The present study aims to learn whether Tims proteins are responsible for Th2-biased response evoked by Schistosoma japonicum infection. The expressions of Tim-2 and Tim-3 in spleen lymphocytes from S. japonicum-infected mice were examined, and the possible role of galectin-9-Tim-3 pathway in Th2-biased response triggered by schistosome infection was discussed. Our results showed that schistosome infection could up-regulate Tim-2 which coincided with elevated IL-4 gene expression. Administration of galectin-9 significantly induced apoptosis of native spleen lymphocytes with down-regulation IFN-γexpression in vitro. Additionally, Tim-3-Fc fusion protein notably enhanced Th1 cells and decreased Th2 cells in vitro. Thus, we concluded that pro-apoptotic effects on Th1 population through galectin-9-Tim-3 pathway and the up-regulation of Tim-2 on Th2 cells might be critical to Th2-biased response of host with schistosomiasis japonica.
	TO cite this article:QI Yao,SONG Xiaorong,SHEN Jilong, et al. Tim-2 Up-regualtion and Galectin-9-Tim-3 Pathway Activation in Th2-Biased[OL].[ 7 March 2012] http://en.paper.edu.cn/en_releasepaper/content/4469018

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