Kun Xia

Summary

Publications

  1. pmc A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease
    Deyuan Liu
    The State Key Laboratory of Medical Genetics of China, Central South University, Changsha, China
    Mol Vis 16:2653-8. 2010
  2. pmc Roles of KChIP1 in the regulation of GABA-mediated transmission and behavioral anxiety
    Kun Xia
    State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China
    Mol Brain 3:23. 2010
  3. pmc Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports
    Zhimin Xiong
    State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China
    J Med Case Rep 7:63. 2013
  4. ncbi request reprint Research on screening and identification of proteins interacting with ataxin-3
    Lu Shen
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:242-7. 2005
  5. doi request reprint Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1
    Juan Du
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China
    Clin Neurol Neurosurg 113:480-2. 2011
  6. doi request reprint Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism
    Ji Feng Guo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People s Republic of China
    Mov Disord 23:2074-9. 2008
  7. ncbi request reprint [Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism]
    Ji Feng Guo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:641-3. 2005
  8. ncbi request reprint [Mutation screening of the dystrophin gene in 14 Chinese Duchenne/Becker muscular dystrophy patients without gross deletions]
    Jinjie Xue
    National Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25:633-6. 2008
  9. doi request reprint Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: genetic, clinical, and positron emission tomography findings
    Jun ling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People s Republic of China
    Mov Disord 24:2007-11. 2009
  10. ncbi request reprint [Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L]
    Ru xu Zhang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 23:601-4. 2006

Collaborators

Detail Information

Publications100

  1. pmc A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease
    Deyuan Liu
    The State Key Laboratory of Medical Genetics of China, Central South University, Changsha, China
    Mol Vis 16:2653-8. 2010
    ..Here, we report a novel mutation of NDP that was identified in a Chinese family in which three members displayed typical ND symptoms and other complex phenotypes, such as cerebellar atrophy, motor disorders, and mental disorders...
  2. pmc Roles of KChIP1 in the regulation of GABA-mediated transmission and behavioral anxiety
    Kun Xia
    State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China
    Mol Brain 3:23. 2010
    ..Our study suggests that KChIP1 is a synaptic protein that regulates behavioral anxiety by modulating inhibitory synaptic transmission, and drugs that act on KChIP1 may help to treat patients with mood disorders including anxiety...
  3. pmc Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports
    Zhimin Xiong
    State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China
    J Med Case Rep 7:63. 2013
    ..We screened the LMNA gene in these two siblings as well as in their unaffected parents. A homozygous mutation R527C was identified in the affected siblings, and both parents were heterozygous for this variant...
  4. ncbi request reprint Research on screening and identification of proteins interacting with ataxin-3
    Lu Shen
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:242-7. 2005
    ....
  5. doi request reprint Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1
    Juan Du
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China
    Clin Neurol Neurosurg 113:480-2. 2011
    ..Hereditary spastic paraplegia type 6 (SPG6) is caused by mutations in the NIPA1 gene, this is a rare cause of HSP, until now, all the affected individuals reported displayed "pure" spastic paraplegia...
  6. doi request reprint Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism
    Ji Feng Guo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People s Republic of China
    Mov Disord 23:2074-9. 2008
    ..Mutations of DJ-1 and PINK1 gene are also found in Chinese families with AREP. Mutations in ATP13A2 gene may be rare in Chinese families with AREP...
  7. ncbi request reprint [Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism]
    Ji Feng Guo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:641-3. 2005
    ..To investigate the mutation characteristics of DJ1 gene in Chinese patients with autosomal recessive early-onset Parkinsonism (AR-EP)...
  8. ncbi request reprint [Mutation screening of the dystrophin gene in 14 Chinese Duchenne/Becker muscular dystrophy patients without gross deletions]
    Jinjie Xue
    National Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 25:633-6. 2008
    ..To search for the dystrophin gene mutations of Duchenne muscular dystrophy (DMD) patients without gross deletions, in order to offer accurate genetic counseling and prenatal diagnosis for those families...
  9. doi request reprint Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: genetic, clinical, and positron emission tomography findings
    Jun ling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People s Republic of China
    Mov Disord 24:2007-11. 2009
    ..8%) in the MJD1 locus. [(11)C]-CFT PET in detected members in SCA2 and SCA3/MJD families showed decrements of (11)C-CFT uptake. These findings suggest that a mutation in SCA2 or SCA3/MJD may be one of the genetic causes of PD...
  10. ncbi request reprint [Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L]
    Ru xu Zhang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 23:601-4. 2006
    ..To study the possible mechanism of the intracellular aggregate formation of small heat shock protein HSPB8 (HSPB8)(K141N) mutation resulting in axonal Charcot-Marie-Tooth disease type 2L(CMT2L)...
  11. doi request reprint TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
    Jun ling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province 410008, China
    Brain 133:3510-8. 2010
    ....
  12. ncbi request reprint [Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease]
    Xiao Min Liu
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:510-3. 2005
    ..To investigate the features of small heat shock protein 27 (HSP27) gene mutation in Chinese patients with Charcot-Marie-Tooth disease (CMT)...
  13. pmc SUMO-1 modification on K166 of polyQ-expanded ataxin-3 strengthens its stability and increases its cytotoxicity
    Ya fang Zhou
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
    PLoS ONE 8:e54214. 2013
    ..Our findings revealed the role of ataxin-3 SUMOylation in SCA3/MJD pathogenesis...
  14. ncbi request reprint Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease
    Beisha Tang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, People s Republic of China
    Arch Neurol 62:1201-7. 2005
    ..Recently, mutations in small heat shock protein 27 (Hsp27) were reported to cause CMT disease type 2F and distal hereditary motor neuropathy...
  15. doi request reprint PITX3 gene polymorphism is associated with Parkinson's disease in Chinese population
    Jia Liu
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    Brain Res 1392:116-20. 2011
    ..09, p=0.002, OR=0.89. These findings suggest that the PITX3 gene rs3758549 polymorphism may increase the susceptibility of PD...
  16. ncbi request reprint [Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia]
    Jing Li
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24:302-4. 2007
    ..To detect mutations of guanosine triphosphate cyclohydrolase I (GCH1) gene in Chinese patients with dopa responsive dystonia (DRD)...
  17. doi request reprint Case-control study of the UCH-L1 S18Y variant in sporadic Parkinson's disease in the Chinese population
    Lei Wang
    Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan 410008, China
    J Clin Neurosci 18:541-4. 2011
    ....
  18. ncbi request reprint [Detection of the CAG trinucleotide repeats of MJD1 gene by recombinant DNA technology]
    Shen Zhang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26:406-9. 2009
    ..To establish a stable, accurate and intuitive method for detecting the CAG trinucleotide repeats of MJD1 gene...
  19. doi request reprint Genetic screening for mutations in the Nrdp1 gene in Parkinson disease patients in a Chinese population
    Xiaoyun Mo
    State Key Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan 410078, China
    Parkinsonism Relat Disord 16:222-4. 2010
    ..206 T > A polymorphism and PD; c.-208-8 A > G was identified in one PD patient and not in controls. Our data do not support the hypothesis of a major role for the Nrdp1 gene in PD development in the Chinese population...
  20. ncbi request reprint Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease
    Fu feng Zhang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:361-3. 2005
    ..To study the characteristics of the mutation of small heat-shock protein 22 (HSP22) gene in Chinese patients with Charcot-Marie-Tooth (CMT) disease...
  21. ncbi request reprint Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia
    Hong Jiang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    J Neurol Sci 241:1-6. 2006
    ..To our knowledge, this is the first report of ATM mutations in Mainland China, in which the transversions 1346G>C (Gly449Ala) and 610G>T (Gly204Stop) are two novel, disease-causing mutations...
  22. doi request reprint Spinocerebellar ataxia type 11 in the Chinese Han population
    Qian Xu
    Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, China
    Neurol Sci 31:107-9. 2010
    ..All analyzed samples displayed the normal elution profile, which denoted that no disease-related mutation was identified. We provided the evidence that SCA11 is a rare form of ataxia in China...
  23. ncbi request reprint [Spastin gene mutation in Chinese patients with hereditary spastic paraplegia]
    Guo Hua Zhao
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 20:177-80. 2003
    ..To investigate the mutation characteristics of spastin gene in Chinese patients with hereditary spastic paraplegia (HSP) and thus provide a basis for the gene diagnosis of HSP...
  24. doi request reprint Mutation analysis of the NRXN1 gene in a Chinese autism cohort
    Yalan Liu
    School of Biological Science and Technology, Central South University, Changsha, Hunan, China
    J Psychiatr Res 46:630-4. 2012
    ..2% vs. 13.8%; χ(2) = 22.487; p = 3.45E-006; OR = 2.152 (1.559-2.970)). Our data suggest a possible association of neurexin-1 with autism risk in Chinese Han population, warranting further large-scale study on this gene...
  25. ncbi request reprint Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases
    Jun ling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province 410008, China
    Neurosci Lett 552:40-5. 2013
    ....
  26. ncbi request reprint A syndactyly type IV locus maps to 7q36
    Daisuke Sato
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, and Women and Children s Hospital of Hunan Province, Changsha, China
    J Hum Genet 52:561-4. 2007
    ..Analysis of three candidate genes, LMBR1, SHH and ZRS, failed to identify any pathogenic mutations. Our gene mapping may give a clue to identify the putative SD4 gene and provide a better understanding of normal human limb development...
  27. pmc Association study between SNP rs150689919 in the DNA demethylation gene, TET1, and Parkinson's disease in Chinese Han population
    Xin Xin Liao
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P, R, China
    BMC Neurol 13:196. 2013
    ..1460C > T (rs150689919) in the coding region of the Tet methyl cytosine dioxygenase 1 (TET1) gene...
  28. doi request reprint Screening for two SNPs of LINGO1 gene in patients with essential tremor or sporadic Parkinson's disease in Chinese population
    Xing Zuo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    Neurosci Lett 481:69-72. 2010
    ..We concluded that the two markers rs9652490 and rs11856808 were not strongly related to the development of ET or late onset SPD, but the rs9652490G allele might be a protective factor for EOPD in Chinese population...
  29. ncbi request reprint [Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome]
    Yuhu Zhang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:189-91. 2005
    ..To study pantothenate kinase 2 (PANK2) gene mutations in Chinese patients with Hallervorden-Spatz syndrome (HSS)...
  30. ncbi request reprint A novel fusion suicide gene yeast CDglyTK plays a role in radio-gene therapy of nasopharyngeal carcinoma
    Kun Xia
    National Lab of Medical Genetics of China, Central South University, Changsha, Hunan, People s Republic of China
    Cancer Gene Ther 11:790-6. 2004
    ..05). Our findings suggested there was a synergistic antitumor effect when combining suicide gene therapy and radiation, and yCDglyTK has potent antitumor efficacy and may be a candidate suicide gene for cancer therapy...
  31. ncbi request reprint [Mutation detection of parkin gene by denaturing high performance liquid chromatography]
    Jing Li
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24:449-52. 2007
    ..To detect parkin gene mutation of early-onset parkinsonism (EOP) by denaturing high performance liquid chromatography (DHPLC)...
  32. ncbi request reprint Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease
    Beisha Tang
    National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China
    Hum Mol Genet 15:1816-25. 2006
    ..This study reports the first case of autosomal recessive PD with digenic inheritance and demonstrates that DJ-1 and PINK1 physically associate and collaborate to protect cells against stress via complex formation...
  33. doi request reprint Gene localization in a Chinese family with autosomal dominant non-syndromic deafness
    Lu Jiang
    Department of Otolaryngology, Xiangya Hospital, Central South University, China
    Acta Otolaryngol 131:1061-8. 2011
    ..There could be another candidate gene in DFNA2, which could be responsible for the hearing loss phenotype...
  34. ncbi request reprint [Construction of the eukaryotic expression vector of MJD1 and its expression in SH-SY5Y cells]
    Jian guang Tang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 30:640-4. 2005
    ....
  35. doi request reprint [Cellular expression of (R127W)HSPB1 and its co-localization with neurofilament light chain]
    Ru xu Zhang
    Department of Neurology, Central South University, Changsha, Hunan, People s Republic of China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 28:496-500. 2011
    ..To observe the cellular expression of (R127W) HSPB1 and its influence on neurofilament light chain (NFL) self-assembly and co-localization with NFL...
  36. doi request reprint Disruption of Contactin 4 in two subjects with autism in Chinese population
    Hui Guo
    State Key Laboratory of Medical Genetics, Central South University, Changsha, China
    Gene 505:201-5. 2012
    ..6 Mb CNV (disrupting only CNTN4 and CNTN6). This suggests that other genes in the nearby region may contribute to the pathogenesis...
  37. ncbi request reprint Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population
    Qi ying Sun
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People s Republic of China
    Mov Disord 25:1005-11. 2010
    ..76, P < 0.00001, OR = 8.82, confidence interval = 95%, 4.21-18.48. The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population...
  38. ncbi request reprint [Splicing site mutation of D19S418 in PRPF-31 gene and its phenotypic characters with autosomal dominant retinitis pigmentosa]
    Xing hua Xi
    Department of Ophthalmology, The Second Xiangya Hospital, Central South University, Changsha 410011, China
    Zhonghua Yan Ke Za Zhi 41:1020-6. 2005
    ..To evaluate the disease-causing gene and phenotypic characters of a large family with autosomal dominant retinitis pigmentosa (adRP)...
  39. ncbi request reprint Screening of LRRK2 interactants by yeast 2-hybrid analysis
    Xiao ye Zheng
    National Laboratory of Medical Genetics, Central South University, Changsha 410078, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 33:883-91. 2008
    ..To isolate and identify the potential binding partners of LRRK2, a gene linked to both dominant familial form and sporadic form of Parkinson's disease, thus to further our knowledge of its function...
  40. ncbi request reprint Analysis of PAX6 gene in a Chinese aniridia family
    Hai Yan Zhu
    National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, Changsha 410078, China
    Chin Med J (Engl) 119:1400-2. 2006
  41. ncbi request reprint [Genotype and phenotype analyses of three families with autosomal recessive juvenile parkinsonism]
    Ji Feng Guo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 23:70-3. 2006
    ..To investigate the gene mutations and the clinical features of Chinese patients with autosomal recessive juvenile parkinsonism(AR-JP)...
  42. doi request reprint Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population
    Xiaoping Li
    State Key Lab of Medical Genetics, Central South University, Changsha, Hunan, China
    Psychiatr Genet 20:113-7. 2010
    ..Earlier findings suggest the CNTNAP2 as a predisposition locus of autism, but no study has been carried out on the possible association of CNTNAP2 with autism in the Chinese Han population...
  43. ncbi request reprint [Identification of the origin of marker chromosome by comparative genomic hybridization]
    Lu Zhou
    National Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, Changsha, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 32:264-7. 2007
    ..To identify the origin of the marker chromosome in a patient with chromosome aberration, and to provide the precise genetic diagnosis...
  44. ncbi request reprint Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells
    Li Qiang He
    National Laboratory of Medical Genetics, Central South University, Changsha 410078, China
    Acta Biochim Biophys Sin (Shanghai) 37:547-54. 2005
    ....
  45. doi request reprint Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases
    Junling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 36:482-9. 2011
    ..To undertake an updated genetic spectrum analysis in patients with hereditary spinocerebellar ataxia (SCA) in mainland China...
  46. ncbi request reprint [Mapping of pathogenic genes in two families with autosomal dominant ichthyosis vulgaris]
    Hui Yong Gong
    National Laboratory of Medical Genetics, Central South University, Changsha 410078, China
    Yi Chuan 30:843-50. 2008
    ..In family 2, however, all known loci for ichthyosis vulgaris were excluded and the new locus remains to be identified...
  47. ncbi request reprint A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24
    Bei sha Tang
    National Laboratory of Medical Genetics of China, Central South University, 410078 Changsha, Hunan, People s Republic of China
    Hum Genet 114:527-33. 2004
    ..08 for marker D12S76 at a recombination fraction (theta) of 0 strongly supported linkage to this locus. Thus, CMT2 neuropathy in this family represents a novel genetic entity that we have designated as CMT2L...
  48. ncbi request reprint Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia
    Beisha Tang
    National Laboratory of Medical Genetics of China, and the Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People s Republic of China
    Arch Neurol 61:49-55. 2004
    ..The most common form of hereditary spastic paraplegia is caused by mutations in the spastin gene (SPG4), which encodes spastin, an adenosine triphosphatase associated with various cellular activities protein...
  49. doi request reprint Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China
    Qi ying Sun
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China
    J Clin Neurosci 20:217-9. 2013
    ..The results suggest that the GBA gene L444P mutation may be not responsible for ET in mainland China. Whether the GBA gene L444P mutation modifies the risk for MSA deserves further study in larger samples...
  50. doi request reprint Mutation detection in candidate genes for benign familial infantile seizures on a novel locus
    Nan Li
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China
    Int J Neurosci 120:217-21. 2010
    ..The analyses suggest those candidate genes that were detected might not be involved in the epileptogenesis of pure BFIS, at least in the Chinese family we studied...
  51. doi request reprint LRRK2 Pro755Leu variant in ethnic Chinese population with Parkinson's disease
    Ling Yan Yao
    Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan 410008, PR China
    Neurosci Lett 495:35-8. 2011
    ..48, P=0.63, odds ratio=1.44, 95% CI: 0.32-6.40). Given these findings, it was quite reasonable to suppose that LRRK2 Pro755Leu variant rarely increased risk for PD in ethnic Chinese population in Asia...
  52. ncbi request reprint A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3-p11.2
    Desheng Liang
    National Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, Changsha, China
    Am J Med Genet A 140:238-44. 2006
    ..Karyotypes of the propositus and his son were thus inv(12)(pter-->p11.22::q14.1-->p12.3::q14.1-->qter). This is the first report of "pure" proximal 12p-trisomy including p12.3-p11.22 region...
  53. ncbi request reprint A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa
    Kun Xia
    National Laboratory of Medical Genetics of China, The Second Xiangya Hospital, Central South University, Changsha, People s Republic of China
    Mol Vis 10:361-5. 2004
    ..This study was intended to identify mutations in a large Chinese pedigree with ADRP...
  54. ncbi request reprint [Analysis of CX32 gene mutation and related clinical features in Chinese Han Charcot-Marie-Tooth families]
    Ya jing Zhan
    Department of Neurology, Third Xiangya Hospital, Central South University, Changsha 410013, China
    Zhonghua Yi Xue Za Zhi 92:1463-7. 2012
    ..To analyze the mutation of CX32 gene and related clinical features in Chinese Han patients with Charcot-Marie-Tooth (CMT) disease...
  55. doi request reprint [Cloning and localization of A3IP -a novel protein that interacts with ataxin-3]
    Feng zhen Huang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 30:394-8. 2013
    ..To clone an A3IP gene and investigate its cellular and histological localization based on previous research which has identified part of A3IP sequence interacting with carboxyl-terminal of ataxin-3...
  56. ncbi request reprint [Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease]
    Ru xu Zhang
    Department of Neurology, Third Xiangya Hospital, Central South University, Changsha 410013, China
    Zhonghua Yi Xue Za Zhi 89:3324-7. 2009
    ..To analyze MFN2 gene mutation in Chinese patients Charcot-Marie-Tooth disease (CMT) and to establish a quick and effective diagnostic method...
  57. doi request reprint Efficient protein expression from the endogenous RNA polymerase I promoter using a human ribosomal DNA targeting vector
    Lu Wen
    National Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, 88 Xiangya Road, Changsha, Hunan 410078, China
    Biochem Biophys Res Commun 367:846-51. 2008
    ..Our data suggest the possibility of applying this system in gene therapy for hereditary diseases...
  58. ncbi request reprint [Prenatal diagnosis of prelingual deafness by determination of SLC26A4 gene mutation]
    Hao Hu
    National Laboratory of Medical Genetics, Central South University, Changsha 410078, China
    Zhonghua Fu Chan Ke Za Zhi 40:591-4. 2005
    ..To identify deafness related gene and provide its prenatal diagnosis to avoid deaf fetus delivery...
  59. doi request reprint Transglutaminase 6 interacts with polyQ proteins and promotes the formation of polyQ aggregates
    Wen Juan Guan
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, China
    Biochem Biophys Res Commun 437:94-100. 2013
    ..These data suggest that transglutaminase 6 could be involved in polyQ diseases and there may exist a common pathological link between polyQ associated SCA and SCA35. ..
  60. doi request reprint Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis
    Wen Juan Guan
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, China
    Biochem Biophys Res Commun 430:780-6. 2013
    ..Furthermore, overexpressing the TG6 mutants sensitized cells to staurosporine-induced apoptosis by increasing the activity of caspases. We propose that the pro-apoptotic role of these mutants might underlie the pathogenesis of SCA35...
  61. doi request reprint A novel locus for congenital simple microphthalmia family mapping to 17p12-q12
    Zhengmao Hu
    The State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China
    Invest Ophthalmol Vis Sci 52:3425-9. 2011
    ..To investigate the etiology in a family with autosomal-dominant congenital simple microphthalmia of Chinese origin...
  62. doi request reprint [Studies on the CAG repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese Han]
    Junling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26:620-5. 2009
    ..To investigate the CAG trinucleotide repeat expansion in spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7, 12, and 17 from Chinese Han...
  63. ncbi request reprint Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus
    Nan Li
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    Neurosci Lett 480:211-4. 2010
    ..Our finding extends the spectrum of SCN1A mutations related to GEFS+ and further confirms the contribution of the sodium channel genes to the etiology of idiopathic epilepsies...
  64. pmc Analysis of EIF4G1 in ethnic Chinese
    Kai Li
    Department of Neurology, Xiangya Hospital, Central South University, Xiangya Road, Changsha, China
    BMC Neurol 13:38. 2013
    ..We carried out genetic analysis to determine the prevalence of EIF4G1 variants in an ethnic Chinese population and to better understand the association between EIF4G1 and PD...
  65. doi request reprint Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population
    Zhengmao Hu
    State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China
    Hum Genet 131:1269-74. 2012
    ..105), mutation p.K4022X was significantly associated with psoriasis (P < 0.05). Our data thus indicates an association of FLG with psoriasis in Chinese population...
  66. doi request reprint Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome
    Lu Jiang
    Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China
    Biochem Biophys Res Commun 408:620-4. 2011
    ..We analyzed the clinical features and family-related gene mutations for the first two Chinese cases of type IV Waardenburg syndrome (WS4)...
  67. doi request reprint A deletion mutation of the VHL gene associated with a patient with sporadic von Hippel-Lindau disease
    Dandan Jia
    Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan 410008, China
    J Clin Neurosci 20:842-7. 2013
    ..Phe76del) of the VHL protein in a patient with sporadic VHL with a benign prognosis. The mutation involved may be de novo or the seemingly unaffected parent may be mosaic for the disease...
  68. ncbi request reprint Gluten ataxia of sporadic and hereditary cerebellar ataxia in patients from mainland China
    Wen Juan Guan
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China
    Neurol India 61:226-30. 2013
    ..Gluten sensitivity (GS) is a spectrum of disorders with diverse manifestations. Recent evidence suggests that ataxia may be the only manifestation of GS and that it may be one of the causes of sporadic ataxia...
  69. ncbi request reprint VPS35 gene variants are not associated with Parkinson's disease in the mainland Chinese population
    Ji Feng Guo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
    Parkinsonism Relat Disord 18:983-5. 2012
    ..None of the 1011 sporadic PD patients and 1016 controls carried the VPS35 gene c.1858G > A (p.Asp620Asn) mutation. Our data indicated that the VPS35 variants are not associated with PD in the mainland Chinese population...
  70. doi request reprint Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II
    Hua Zhang
    Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People s Republic of China
    Hum Genet 131:491-503. 2012
    ..However, E248fsX30 SOX10 protein seems to decay faster than the WT one, which may underlie the mild WS2 phenotype caused by this mutation...
  71. doi request reprint Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds
    Dandan Jia
    Department of Neurology, Xiangya Hospital, Central South University Changsha, Hunan, China
    Int J Neurosci 122:560-2. 2012
    ..At last, we did not find AFG3L2 gene mutation, except for three known single nucleotide polymorphisms (SNP)s. It suggests that SCA28 subtype is very rare in Chinese mainland...
  72. doi request reprint Association study between two novel single nucleotide polymorphisms and sporadic Parkinson's disease in Chinese Han population
    Kai Li
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan, People s Republic of China
    Neurosci Lett 517:56-9. 2012
    ..However, due to the limited data in the present study, replication studies in larger sample and other populations are required...
  73. doi request reprint A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family
    Hao Peng
    School of Biological Science and Technology, Central South University, Changsha, Hunan, China
    Gene 502:168-71. 2012
    ..RNA splicing analysis proved that this mutation created a new splicing site at c.3200, and then led to frameshift. This result further enriched the mutation spectrum of type I procollagen genes...
  74. pmc Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
    Jun ling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province, 410008, China
    Brain 134:3493-3501. 2011
    ..Thus, we have identified PRRT2 as the first causative gene of paroxysmal kinesigenic dyskinesias, warranting further investigations to understand the pathogenesis of this disorder...
  75. doi request reprint No significant association between RELN polymorphism and autism in case-control and family-based association study in Chinese Han population
    Yiqun He
    Mental Health Institute of the Second Xiangya Hospital, Central South University, 139 Renmin Middle Road, Changsha, Hunan, China
    Psychiatry Res 187:462-4. 2011
    ..The results do not support previous positive findings and suggest that the four single-nucleotide polymorphisms (SNP) of RELN are unlikely to be associated with childhood autism in Chinese Han population...
  76. doi request reprint [Polynucleotide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral-pallidoluysian atrophy in healthy Chinese Han population]
    Jun ling Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 27:501-5. 2010
    ....
  77. doi request reprint Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population
    Zhao Chen
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    Neurosci Lett 520:16-9. 2012
    ..10delC) characterized by different clinical features, which is probably a novel insertion/deletion (I/D) polymorphism in the 5'UTR region of the exon 1b. It suggests that SCA27 is a rare subtype in China...
  78. doi request reprint A diagnostic gene chip for hereditary spastic paraplegias
    Yingying Luo
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province 410008, PR China
    Brain Res Bull 97:112-8. 2013
    ..The high successful performance of this GoldenGate assay makes it a useful technique for preliminary genetic screening for HSP patients and it may be used in clinic in the future. ..
  79. doi request reprint Trafficking abnormality and ER stress underlie functional deficiency of hearing impairment-associated connexin-31 mutants
    Kun Xia
    State Key Laboratory of Medical Genetics, Central South University, Changsha 410083, China
    Protein Cell 1:935-43. 2010
    ..The study reveals a potential pathological mechanism of HI-associated C×31 mutations...
  80. doi request reprint Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders
    Zhao Chen
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China
    Neurobiol Aging 34:2442.e11-7. 2013
    ....
  81. doi request reprint Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia
    Zi Xiong Zhan
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
    Eur J Med Genet 56:375-8. 2013
    ..Our study suggests exome sequencing can be used not only to find a novel causative gene, but also to quickly identify mutations of known genes when the clinical elements are etiologically misleading. ..
  82. pmc Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia
    Yuting Shi
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
    PLoS ONE 8:e81884. 2013
    ..In conclusion, using a combination of whole-exome sequencing and linkage analysis, we identified CHIP, encoding a U-box containing ubiquitin E3 ligase, as a novel causative gene for autosomal recessive cerebellar ataxia. ..
  83. ncbi request reprint MicroRNA profiling in the serums of SCA3/MJD patients
    Yuting Shi
    1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China
    Int J Neurosci 124:97-101. 2014
    ..Our results show that miR-25, miR-125b, miR-29a, and miR-34b could be potential biomarkers for SCA3/MJD and could be used to further investigate the pathogenesis of SCA3/MJD and drug development...
  84. ncbi request reprint Lithium chloride alleviates neurodegeneration partly by inhibiting activity of GSK3β in a SCA3 Drosophila model
    Dan dan Jia
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
    Cerebellum 12:892-901. 2013
    ..Taken together, our findings suggest that lithium is a promising therapeutic agent for the treatment of SCA3 and other PolyQ diseases. ..
  85. ncbi request reprint Distribution of transglutaminase 6 in the central nervous system of adult mice
    Yu tao Liu
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, China
    Anat Rec (Hoboken) 296:1576-87. 2013
    ..This study presents a comprehensive overview of TG6 expression in the mouse brain, and provides insight for investigating the role of TG6 in the development of SCA...
  86. doi request reprint Spinocerebellar ataxia type 23 is an uncommon SCA subtype in the Chinese Han population
    Yu tao Liu
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People s Republic of China
    Neurosci Lett 528:51-4. 2012
    ..Although no SCA23 mutation was identified, one novel single nucleotide polymorphism (c.255G>A, p.Lys85Lys) in exon 4 of the PDYN gene was found. This suggests that SCA23 is a rare form of dominant ataxia in the Chinese Han population...
  87. doi request reprint Novel GIGYF2 gene variants in patients with Parkinson's disease in Chinese population
    Lei Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China
    Neurosci Lett 473:131-5. 2010
    ..Another variant Gln979stop encodes a truncated protein. In conclusion, we identified nine novel variants in GIGYF2 gene, which might be associated with PD in the Chinese population...
  88. ncbi request reprint [Novel mutation of Y271H in EXT1 gene causes multiple exostoses]
    Wei Li
    National Key Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, Changsha 410078, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 32:546-50. 2007
    ..ConclusionThe novel mutation Y271H is the disease-causing mutation in the hereditary multiple exostoses family...
  89. doi request reprint Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China
    Bin Jiao
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
    Neurobiol Aging 35:936.e19-22. 2014
    ....
  90. doi request reprint Mutation analysis of microRNA-7 gene in Chinese patients with Parkinson's disease
    Xuewei Zhang
    Health Management Center, Xiangya Hospital, Changsha, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 37:1189-92. 2012
    ..To investigate the mutation of small sequence changes in microRNA-7 gene in Chinese patients with Parkinson's disease (PD)...
  91. doi request reprint [Spinal muscular atrophy mimicking myotonic dystrophy: a case report and clinical, pathological and genetic analysis]
    Li Xia Luo
    Department of Neurology, Central South University, Changsha, Hunan, People s Republic of China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 29:455-8. 2012
    ..To investigate a patient featuring a complex neuromuscular disease phenotype...
  92. doi request reprint Mutation analysis of PINK1 gene in patients with early-onset Parkinsonism
    Xuewei Zhang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 36:490-7. 2011
    ..To determine the frequency of mutations in PINK1 in Chinese Han people with sporadic early-onset Parkinsonism (EOP)...
  93. pmc Increased expression of reticulon 3 in neurons leads to reduced axonal transport of β site amyloid precursor protein-cleaving enzyme 1
    Minzi Deng
    From the State Key Laboratory of Medical Genetics, Xiangya Medical School, Central South University, Changsha, Hunan 410078, China and
    J Biol Chem 288:30236-45. 2013
    ....
  94. doi request reprint Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia
    Tania Mousumi
    State Key Laboratory of Medical Genetics, Central South University, Changsha 410078, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 38:761-5. 2013
    ..The aim of this study is to investigate relationship between genetic mutation in GJB6 and HED in an affected Chinese family...
  95. doi request reprint Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome
    Hongsheng Chen
    Department of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan, China
    Biochem Biophys Res Commun 397:70-4. 2010
    ....
  96. doi request reprint Genetics of autism spectrum disorders
    Hui Guo
    Central South University, Changsha 410078, China
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 36:703-11. 2011
    ....
  97. ncbi request reprint [Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris]
    Zheng Mao Hu
    National Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, Changsha 410078, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 29:302-6. 2007
    ..To elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris (IV)...
  98. ncbi request reprint [Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.]
    Ru xu Zhang
    Department of Neurology, tCentral South University, Changsha, China
    Yi Chuan 32:817-23. 2010
    ..1910C-->T in LMNA gene are newly found SNPs in this study. Variation of c.274A-->G in LITAF gene is known SNP reported in SNP database. Mutations in LITAF, RAB7, LMNA, and MTMR2 genes are rare in Chinese CMT patients...
  99. ncbi request reprint [Aberrant expression pattern of a novel mutation in connexin 26 gene resulting in autosomal recessive deafness]
    Zhong chun Yang
    Department of Otolaryngology Head and Neck Surgery, Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 27:241-5. 2010
    ..465T>A, p.Y155X in connexin 26 (CX26) (also called gap junction protein beta-2, GJB2), and perform functional analysis of the mutated protein p.Y155X in Hela cells to explore the underlying mechanism on deafness...
  100. doi request reprint Label-free highly sensitive detection of telomerase activity in cancer cell by chemiluminescence imaging
    Changbei Ma
    School of Biological Science and Technology, Central South University, Changsha 410013, China
    Mol Cell Probes 26:212-4. 2012
    ..Furthermore, telomerase inhibition is shown, demonstrating the potential for screening of telomerase inhibitors as anticancer drug agents...