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科学研究

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科研项目国家重大科技计划专栏科研队伍发表论文研究成果专著专利
 

2006年发表论文

 

1.     Liang D, Wu L, Pan Q, Harada N, Long Z, Xia K, Yoshiura K, Dai H, Niikawa N, Cai F, Xia J. (2006) A father and son with mental retardation a characteristic face inv(12) and insertion trisomy 12p12.3-p11.2.Am J Med Genet A.140: 238-244.


2.     Zhu HY, Wu LQ, Pan Q, Tang BS, Liang DS, Long ZG, Dai HP, Xia K, Xia JH. (2006) Rapid genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography.Chinese Med J-peking (Engl).119: 1222-1225.


3.     Zhu HY, Wu LQ, Pan Q, Liang DS, Long ZG, Dai HP, Xia K, Xia JH. (2006) Analysis of PAX6 gene in a Chinese aniridia family.Chinese Med J-peking (Engl).119: 1400-1402.


4.     Wang R, Zhang YW, Zhang X, Liu R, Zhang X, Hong S, Xia K, Xia J, Zhang Z, Xu H. (2006) Transcriptional regulation of APH-1A and increased gamma-secretase cleavage of APP and Notch by HIF-1 and hypoxia.Faseb J.20: 1275-1277.


5.     Tang B, Xiong H, Sun P, Zhang Y, Wang D, Hu Z, Zhu Z, Ma H, Pan Q, Xia JH, Xia K, Zhang Z. (2006) Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.Hum Mol Genet.15: 1816-1825.


6.     Jiang H, Tang B, Xia K, Hu Z, Shen L, Tang J, Zhao G, Zhang Y, Cai F, Pan Q, Long Z, Wang G, Dai H. (2006) Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia.J Neurol Sci.241: 1-6.


7.     Wang R, Zhang YW, Sun P, Liu R, Zhang X, Zhang X, Xia K, Xia J, Xu H, Zhang Z. (2006) Transcriptional regulation of PEN-2 a key component of the gamma-secretase complex by CREB.Mol Cell Biol.26: 1347-1354.


8.     Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa T, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko VA, Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano CK, Ghadami M, Nomura M, Liang DS, Miwa N, Kim DK, Garidkhuu A, Natsume N, Ohta T, Tomita H, Kaneko A, Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, Murray JC, Saito S, Nakamura Y, Niikawa N.(2006) A SNP in the ABCC11 gene is the determinant of human earwax type.Nat Genet.38: 324-330.


9.     Tang J, Chen X, Xu X, Wu R, Zhao J, Hu Z, Xia K. (2006) Significant linkage and association between a functional (GT)n polymorphism in promoter of the N-methyl-D-aspartate receptor subunit gene (GRIN2A) and schizophrenia.Neurosci Lett.409:80-82.


10.   Yao F, Zhang R, Zhu Z, Xia K, Liu C. (2006) MutScreener: primer design tool for PCR-direct sequencing.Nucleic Acids Res.34: 660-664.


11.   Li Y, Jian Z, Xia K, Li X, Lv X, Pei H, Chen Z, Li J. (2006) XIAP is related to the chemoresistance and inhibited its expression by RNA interference sensitize pancreatic carcinoma cells to chemotherapeutics.Pancreas.32: 288-296.


12.   Wang D, Qian L, Xiong H, Liu J, Neckameyer WS, Oldham S, Xia K, Wang J, Bodmer R, Zhang Z. (2006) Antioxidants protect PINK1-dependent dopaminergic neurons in Drosophila.P Natl Acad Sci USA.103: 13520-13525.

     
     
     
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