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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
 

2014年发表论文

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1.      Chen, C., Zhang, C., Cheng, L., Reilly, J.L., Bishop, J.R., Sweeney, J.A., Chen, H.Y., Gershon, E.S., and Liu, C. (2014). Correlation between DNA methylation and gene expression in the brains of patients with bipolar disorder and schizophrenia. Bipolar Disord, 16(8): 790-799.

2.      Chen, D.N., Ma, Y.T., Liu, H., Zhou, Q.Y., and Li, J.D. (2014). Functional Rescue of Kallmann Syndrome-associated PKR2 Receptor Mutants Deficient in Trafficking. J Biol Chem, 289(22): 15518-15526.

3.      de la Cruz, I.P., Ma, L., and Horvitz, H.R. (2014). The Caenorhabditis elegans iodotyrosine deiodinase ortholog SUP-18 functions through a conserved channel SC-box to regulate the muscle two-pore domain potassium channel SUP-9. PLoS Genet, 10(2): e1004175.

4.      Deng, L., Peng, Y., Liu, J., Wen, J., Xia, Y., Liang, D., and Wu, L. (2014). Brief report. Adult patient presenting an interstitial (9) (q21.32q31.1) direct duplication resulting from the malsegregation of a paternal balanced insertional translocation. Birth Defects Res A Clin Mol Teratol, 100(4): 294-299.

5.      Du, R.F., Huang, H., Fan, L.L., Li, X.P., Xia, K., and Xiang, R. (2014). A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases. Ophthalmic Genet, 10.3109/13816810.2014.924016: 1-5.

6.      Duan, R., Sharma, S., Xia, Q., Garber, K., and Jin, P. (2014). Towards understanding RNA-mediated neurological disorders. J Genet Genomics, 41(9): 473-484.

7.      Edens, B.M., Ajroud-Driss, S., Ma, L., and Ma, Y.C. (2014). Molecular mechanisms and animal models of spinal muscular atrophy. Biochim Biophys Acta, 10.1016/j.bbadis.2014.07.024: [Epub ahead of print].

8.      Gao, X., Teng, Y., Luo, J., Huang, L., Li, M., Zhang, Z., Ma, Y.C., and Ma, L. (2014). The survival motor neuron gene smn-1 interacts with the U2AF large subunit gene uaf-1 to regulate Caenorhabditis elegans lifespan and motor functions. RNA Biol, 10.4161/rna.36100: [Epub ahead of print].

9.      Grennan, K.S., Chen, C., Gershon, E.S., and Liu, C. (2014). Molecular network analysis enhances understanding of the biology of mental disorders. Bioessays, 36(6): 606-616.

10.   Guo, H., Jin, X., Zhu, T., Wang, T., Tong, P., Tian, L., Peng, Y., Sun, L., Wan, A., Chen, J., Liu, Y., Li, Y., Tian, Q., Xia, L., Zhang, L., Pan, Y., Lu, L., Liu, Q., Shen, L., Xiong, W., Li, J., Tang, B., Feng, Y., Zhang, X., Zhang, Z., Pan, Q., Hu, Z., and Xia, K. (2014). SLC39A5 mutations interfering with the BMP/TGF-beta pathway in non-syndromic high myopia. J Med Genet, 51(8): 518-525.

11.   He, F., Wang, X., Cai, X., Peng, H., Zhang, L., Zhu, T., Xia, K., Pan, Q., and Hu, Z. (2014). Novel missense mutation in the COL3A1 gene caused vascular Ehlers-Danlos syndrome in a Chinese family. J Dermatol, 10.1111/1346-8138.12696: [Epub ahead of print].

12.   He, M., Tang, B.S., Li, N., Mao, X., Li, J., Zhang, J.G., Xiao, J.J., Wang, J., Jiang, H., Shen, L., Guo, J.F., Xia, K., and Wang, J.L. (2014). Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2. Clin Genet, 86(6): 598-600.

13.   He, Y., Tang, J.S., Li, Z.C., Li, H., Liao, Y.H., Tang, Y.Q., Tan, L.W., Chen, J.D., Xia, K., and Chen, X.G. (2014). Leukocyte Mitochondrial DNA Copy Number in Blood Is Not Associated with Major Depressive Disorder in Young Adults. PLoS One, 9(5): e96869.

14.   Huang, F., Zhang, L., Long, Z., Chen, Z., Hou, X., Wang, C., Peng, H., Wang, J., Li, J., Duan, R., Xia, K., Chuang, D.M., Tang, B., and Jiang, H. (2014). miR-25 alleviates polyQ-mediated cytotoxicity by silencing ATXN3. FEBS Lett, 588(24): 4791-4798.

15.   Huang, L., Zhang, F., Tang, Y., Qin, J., Peng, Y., Wu, L., Wang, F., Yuan, Q., Peng, Z., Liu, J., Meng, J., and Tao, L. (2014). Fluorofenidone Attenuates Inflammation by Inhibiting the NF-small ka, CyrillicB Pathway. Am J Med Sci, 348(1): 75-80.

16.   Huang, W., Luo, S., Ou, J., Zhu, F., Xia, Y., Xue, J., Pan, Q., Wu, L., and Duan, R. (2014). Correlation between FMR1 expression and clinical phenotype in discordant dichorionic-diamniotic monozygotic twin sisters with the fragile X mutation. J Med Genet, 51(3): 159-164.

17.   Huang, W., Xia, Q.P., Luo, S.Y., He, H., Zhu, T., Du, Q., and Duan, R.H. (2014). Distribution of fragile X mental retardation 1 CGG repeat and flanking haplotypes in a large Chinese population. Molecular Genetics & Genomic Medicine, 10.1002/mgg3.128: n/a-n/a.

18.   Huang, Y., Mei, L., Gui, B., Su, W., Liang, D., Wu, L., and Pan, Q. (2014). A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family. Eye (Lond), 28(11): 1364-1369.

19.   Jiao, B., Tang, B., Liu, X., Yan, X., Zhou, L., Yang, Y., Wang, J., Xia, K., and Shen, L. (2014). Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China. Neurobiol Aging, 35(4): 936 e919-922.

20.   Li, Z., Tang, J., Li, H., Chen, S., He, Y., Liao, Y., Wei, Z., Wan, G., Xiang, X., Xia, K., and Chen, X. (2014). Shorter telomere length in peripheral blood leukocytes is associated with childhood autism. Sci Rep, 4: 7073.

21.   Liang, D., Peng, Y., Lv, W., Deng, L., Zhang, Y., Li, H., Yang, P., Zhang, J., Song, Z., Xu, G., Cram, D.S., and Wu, L. (2014). Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes. J Mol Diagn, 16(5): 519-526.

22.   Liao, X., Luo, Y., Zhan, Z., Du, J., Hu, Z., Wang, J., Guo, J., Yan, X., Pan, Q., Xia, K., Tang, B., and Shen, L. (2014). SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations. Clin Genet, 87(1): 85-89.

23.   Lin, Y., He, H., Luo, Y., Zhu, T., and Duan, R. (2014). Inhibition of Transglutaminase Exacerbates Polyglutamine-Induced Neurotoxicity by Increasing the Aggregation of Mutant Ataxin-3 in an SCA3 Drosophila Model. Neurotoxicity Research, 10.1007/s12640-014-9506-8: 1-9.

24.   Liu, R., Xie, H., Luo, C., Chen, Z., Zhou, X., Xia, K., Chen, X., Zhou, M., Cao, P., Cao, K., and Zhou, J. (2014). Identification of FLOT2 as a novel target for microRNA-34a in melanoma. J Cancer Res Clin Oncol, 10.1007/s00432-014-1874-1: [Epub ahead of print].

25.   Lu, L., Guo, H., Peng, Y., Xun, G., Liu, Y., Xiong, Z., Tian, D., Li, W., Xu, X., Zhao, J., Hu, Z., and Xia, K. (2014). Common and rare variants of the THBS1 gene associated with the risk for autism. Psychiatr Genet, 24(6): 235-240.

26.   Luo, J., Xu, Z., Tan, Z., Zhang, Z., and Ma, L. (2014). Neuropeptide Receptors NPR-1 and NPR-2 Regulate Caenorhabditis elegans Avoidance Response to the Plant Stress Hormone Methyl Salicylate. Genetics, 10.1534/genetics.114.172239: [Epub ahead of print].

27.   Luo, S., Huang, W., Chen, C., Pan, Q., Duan, R., and Wu, L. (2014). A novel deletion to normal size in the sperm of a fragile X full mutation male. Clin Genet, 86(3): 295-297.

28.   Luo, S., Huang, W., Xia, Q., Du, Q., Wu, L., and Duan, R. (2014). Mutational Analyses of the FMR1 Gene in Chinese Pediatric Population of Fragile X Suspects: Low Tolerance for Point Mutation. J Child Neurol, 10.1177/0883073814538508: [Epub ahead of print].

29.   Luo, S., Huang, W., Xia, Q., Xia, Y., Du, Q., Wu, L., and Duan, R. (2014). Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with Fragile X Syndrome: case report. BMC Med Genet, 15(1): 125.

30.   Luo, Y., Chen, C., Zhan, Z., Wang, Y., Du, J., Hu, Z., Liao, X., Zhao, G., Wang, J., Yan, X., Jiang, H., Pan, Q., Xia, K., Tang, B., and Shen, L. (2014). Mutation and Clinical Characteristics of Autosomal-Dominant Hereditary Spastic Paraplegias in China. Neurodegener Dis, 000365513 [pii]10.1159/000365513: [Epub ahead of print].

31.   Luo, Y., Jiao, B., Wang, J., Du, J., Yan, X., Xia, K., Tang, B., and Shen, L. (2014). C9orf72 hexanucleotide repeat expansion analysis in Chinese spastic paraplegia patients. J Neurol Sci, 347(1-2): 104-106.

32.   Lv, W., Wei, X., Guo, R., Liu, Q., Zheng, Y., Chang, J., Bai, T., Li, H., Zhang, J., Song, Z., Cram, D.S., Liang, D., and Wu, L. (2014). Non-invasive Prenatal Testing for Wilson Disease by Use of Circulating Single-Molecule Amplification and Resequencing Technology (cSMART). Clin Chem, 10.1373/clinchem.2014.229328: [Epub ahead of print].

33.   Mei, L.B., Huang, Y.R., Pan, Q., Li, H.X., Liang, D.S., and Wu, L.Q. (2014). Identification of a novel SHOX mutation in a Chinese family with isolated Madelung deformity. J Genet, 10.1007/s12041-014-0419-3: 1-4.

34.   Pan, W., Yu, J., Shi, R., Yan, L., Yang, T., Li, Y., Zhang, Z., Yu, G., Bai, Y., Schuchman, E.H., He, X., and Zhang, G. (2014). Elevation of ceramide and activation of secretory acid sphingomyelinase in patients with acute coronary syndromes. Coron Artery Dis, 25(3): 230-235.

35.   Peng, H., Wang, C., Chen, Z., Sun, Z., Jiao, B., Li, K., Huang, F., Hou, X., Wang, J., Shen, L., Xia, K., Tang, B., and Jiang, H. (2014). The APOE epsilon2 allele may decrease the age at onset in patients with spinocerebellar ataxia type 3 or Machado-Joseph disease from the Chinese Han population. Neurobiol Aging, 35(9): 2179 e2115-2178.

36.   Qiu, F., Qiu, C.Y., Cai, H., Liu, T.T., Qu, Z.W., Yang, Z., Li, J.D., Zhou, Q.Y., and Hu, W.P. (2014). Oxytocin inhibits the activity of acid-sensing ion channels through the vasopressin, V1A receptor in primary sensory neurons. Br J Pharmacol, 171(12): 3065-3076.

37.   Qu, Z.W., Liu, T.T., Qiu, C.Y., Li, J.D., and Hu, W.P. (2014). Inhibition of acid-sensing ion channels by chlorogenic acid in rat dorsal root ganglion neurons. Neurosci Lett, 567: 35-39.

38.   Shen, J., Yin, J.Y., Li, X.P., Liu, Z.Q., Wang, Y., Chen, J., Qu, J., Xu, X.J., McLeod, H.L., He, Y.J., Xia, K., Jia, Y.W., and Zhou, H.H. (2014). The prognostic value of altered eIF3a and its association with p27 in non-small cell lung cancers. PLoS One, 9(4): e96008.

39.   Shi, Q., Ge, Y., Sharoar, M.G., He, W., Xiang, R., Zhang, Z., Hu, X., and Yan, R. (2014). Impact of RTN3 deficiency on expression of BACE1 and amyloid deposition. J Neurosci, 34(42): 13954-13962.

40.   Shi, Y., Huang, F., Tang, B., Li, J., Wang, J., Shen, L., Xia, K., and Jiang, H. (2014). MicroRNA profiling in the serums of SCA3/MJD patients. Int J Neurosci, 124(2): 97-101.

41.   Shi, Y., Wang, J., Li, J.D., Ren, H., Guan, W., He, M., Yan, W., Zhou, Y., Hu, Z., Zhang, J., Xiao, J., Su, Z., Dai, M., Jiang, H., Guo, J., Zhang, F., Li, N., Du, J., Xu, Q., Hu, Y., Pan, Q., Shen, L., Wang, G., Xia, K., Zhang, Z., and Tang, B. (2014). Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia. PLoS One, 8(12): e81884.

42.   Song, W.T., Zeng, Q., Xia, X.B., Xia, K., and Pan, Q. (2014). Atoh7 promotes retinal Muller cell differentiation into retinal ganglion cells. Cytotechnology, 10.1007/s10616-014-9777-1: [Epub ahead of print].

43.   Sun, Z., Xiang, X., Tang, B., Chen, Z., Peng, H., Xia, K., and Jiang, H. (2014). SNP rs11931074 of the SNCA gene may not be associated with multiple system atrophy in Chinese population. Int J Neurosci, 10.3109/00207454.2014.990013: 1-11.

44.   Sun, Z.F., Xiang, X.S., Chen, Z., Zhang, L., Tang, B.S., Xia, K., and Jiang, H. (2014). Increase of the plasma alpha-synuclein levels in patients with multiple system atrophy. Mov Disord, 29(3): 375-379.

45.   Sun, Z.F., Zhang, Y.H., Guo, J.F., Sun, Q.Y., Mei, J.P., Zhou, H.L., Guan, L.P., Tian, J.Y., Hu, Z.M., Li, J.D., Xia, K., Yan, X.X., and Tang, B.S. (2014). Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing. PLoS One, 9(9): e106388.

46.   Wang, X., Guo, J., Fei, E., Mu, Y., He, S., Che, X., Tan, J., Xia, K., Zhang, Z., Wang, G., and Tang, B. (2014). BAG5 protects against mitochondrial oxidative damage through regulating PINK1 degradation. PLoS One, 9(1): e86276.

47.   Wu, Y., Deng, Y., Zhang, S., Luo, Y., Cai, F., Zhang, Z., Zhou, W., Li, T., and Song, W. (2014). Amyloid-beta precursor protein facilitates the regulator of calcineurin 1-mediated apoptosis by downregulating proteasome subunit alpha type-5 and proteasome subunit beta type-7. Neurobiol Aging, 36(1): 169-177.

48.   Wu, Y., Gao, T., Wang, X., Hu, Y., Hu, X., Hu, Z., Pang, J., Li, Z., Xue, J., Feng, M., Wu, L., and Liang, D. (2014). TALE nickase mediates high efficient targeted transgene integration at the human multi-copy ribosomal DNA locus. Biochem Biophys Res Commun, 446(1): 261-266.

49.   Xiang, R., Fan, L.L., Huang, H., Cao, B.B., Li, X.P., Peng, D.Q., and Xia, K. (2014). A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis. Gene, 534(2): 320-323.

50.   Xiang, X., Wang, T., Tong, P., Li, Y., Guo, H., Wan, A., Xia, L., Liu, Y., Li, Y., Tian, Q., Shen, L., Cai, X., Tian, L., Jin, X., Xia, K., and Hu, Z. (2014). New ZNF644 mutations identified in patients with high myopia. Molecular Vision, 20: 939-946.

51.   Xie, J., Yang, Y., Li, J., Hou, J., Xia, K., Song, W., and Liu, S. (2014). Expression of tmp21 in normal adult human tissues. Int J Clin Exp Med, 7(9): 2976-2983.

52.   Xu, L., Wang, L., Yang, X., Li, K., Sun, H., Zhang, D., Wang, H., Li, W., Ni, Z., Xia, K., and Liu, Y. (2014). Platelet function monitoring guided antiplatelet therapy in patients receiving high-risk coronary interventions. Chin Med J (Engl), 127(19): 3364-3370.

53.   Xu, X., Xiong, Z., Zhang, L., Liu, Y., Lu, L., Peng, Y., Guo, H., Zhao, J., Xia, K., and Hu, Z. (2014). Variations analysis of NLGN3 and NLGN4X gene in Chinese autism patients. Mol Biol Rep, 41(6): 4133-4140.

54.   Xu, Z., Luo, J., Li, Y., and Ma, L. (2014). The BLI-3/TSP-15/DOXA-1 Dual Oxidase Complex Is Required for Iodide Toxicity in Caenorhabditis elegans. G3 (Bethesda), 10.1534/g3.114.015982: [Epub ahead of print].

55.   Yan, H.W., Hu, W.X., Zhang, J.Y., Wang, Y., Xia, K., Peng, M.Y., and Liu, J. (2014). Resveratrol induces human K562 cell apoptosis, erythroid differentiation, and autophagy. Tumour Biol, 35(6): 5381-5388.

56.   Yin, W., Liu, H., Peng, Z., Chen, D., Li, J., and Li, J.D. (2014). Mechanisms that underlie the internalization and extracellular signal regulated kinase 1/2 activation by PKR2 receptor. Cell Signal, 26(5): 1118-1124.

57.   You, J., Lin, L., Liu, Q., Zhu, T., Xia, K., and Su, T. (2014). The correlation between the expression of differentiated embryo-chondrocyte expressed gene l and oral squamous cell carcinoma. Eur J Med Res, 19: 21.

58.   Yuan, D., Zhu, Z., Tan, X., Liang, J., Zeng, C., Zhang, J., Chen, J., Ma, L., Dogan, A., Brockmann, G., Goldmann, O., Medina, E., Rice, A.D., Moyer, R.W., Man, X., Yi, K., Li, Y., Lu, Q., Huang, Y., and Huang, S. (2014). Scoring the collective effects of SNPs: association of minor alleles with complex traits in model organisms. Sci China Life Sci, 57(9): 876-888.

59.   Zhang, L., Ou, J., Xu, X., Peng, Y., Guo, H., Pan, Y., Chen, J., Wang, T., Peng, H., Liu, Q., Tian, D., Pan, Q., Zou, X., Zhao, J., Hu, Z., and Xia, K. (2014). AMPD1 functional variants associated with autism in Han Chinese population. Eur Arch Psychiatry Clin Neurosci, 10.1007/s00406-014-0524-6: [Epub ahead of print].

60.   Zhang, M., Chen, J., Si, D., Zheng, Y., Jiao, H., Feng, Z., Hu, Z., and Duan, R. (2014). Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy. BMC Med Genet, 15(1): 77.

61.   Zhang, R., Zhang, F., Li, X., Huang, S., Zi, X., Liu, T., Liu, S., Xia, K., Pan, Q., and Tang, B. (2014). A novel transgenic mouse model of Chinese Charcot-Marie-Tooth disease type 2L. Neural Regen Res, 9(4): 413-419.

62.   Zhang, X., Yuan, Y., Jiang, L., Zhang, J., Gao, J., Shen, Z., Zheng, Y., Deng, T., Yan, H., Li, W., Hou, W.W., Lu, J., Shen, Y., Dai, H., Hu, W.W., Zhang, Z., and Chen, Z. (2014). Endoplasmic reticulum stress induced by tunicamycin and thapsigargin protects against transient ischemic brain injury: Involvement of PARK2-dependent mitophagy. Autophagy, 10(10): 1801-1813.

63.   Zhou, J., Liu, R., Luo, C., Zhou, X., Xia, K., Chen, X., Zhou, M., Zou, Q., Cao, P., and Cao, K. (2014). MiR-20a inhibits cutaneous squamous cell carcinoma metastasis and proliferation by directly targeting LIMK1. Cancer Biol Ther, 15(10): 1340-1349.

64.   Zhou, J., Liu, R., Wang, Y., Tang, J., Tang, S., Chen, X., Xia, K., Xiong, W., Xu, D., Wang, S., He, Q., and Cao, K. (2014). miR-199a-5p regulates the expression of metastasis-associated genes in B16F10 melanoma cells. Int J Clin Exp Pathol, 7(10): 7182-7190.

65.   胡亮, 李浩贤, 彭莹, 龙志高, 文娟, 邬玲仟 (2014). 1770对自然流产夫妇的细胞遗传学回顾性分析. 国际生殖健康/计划生育杂志,(3): 168-171.

66.   黄燕茹, 梅利斌, 苏薇, 杨璞, 梁德生, 邬玲仟*, 潘乾* (2014). 两个Crouzon综合征家系FGFR2基因突变检测. 中华医学遗传学杂志, 31(3): 272-275.

67.   刘梦莹, 邬玲仟 (2014). Kellann综合征遗传学研究进展. 国际生殖健康/计划生育杂志,(3): 186-190.

68.   梅利斌, 黄燕茹, 潘乾, 邬玲仟* (2014). 罕见诺里病家系基因诊断一例. 中华医学遗传学杂志, 31(3): 406-407.

69.   文娟, 李浩贤, 龙志高, 夏艳, 夏家辉, 梁德生, 邬玲仟 (2014). 综合采用多种遗传学技术纠正一例珍贵胎儿的产前诊断错误. 国际生殖健康/计划生育杂志,(3): 175-177.

70.   朱作斌, 黄石 (2014). 单核苷酸多态性在复杂疾病研究中的重要作用. 中南大学学报(医学版),(09): 969-974.

 


     
     
     
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