Qingjiong Zhang

Summary

Publications

  1. pmc Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients
    A Mei Zhang
    Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China
    J Transl Med 10:43. 2012
  2. ncbi request reprint FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus
    Qingjiong Zhang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 13:1375-8. 2007
  3. ncbi request reprint Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene
    Qingjiong Zhang
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20982, USA
    Hum Genet 122:293-9. 2007
  4. ncbi request reprint Confirmation of a genetic locus for X-linked recessive high myopia outside MYP1
    Qingjiong Zhang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, 54 Xianlie Road, Guangzhou, 510060, People s Republic of China
    J Hum Genet 52:469-72. 2007
  5. ncbi request reprint The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals
    Qingjiong Zhang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Invest Ophthalmol Vis Sci 48:530-3. 2007
  6. pmc Mutations in NYX of individuals with high myopia, but without night blindness
    Qingjiong Zhang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 13:330-6. 2007
  7. ncbi request reprint A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612
    Qingjiong Zhang
    Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, People s Republic of China
    Mol Vis 11:554-60. 2005
  8. ncbi request reprint Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families
    S Amer Riazuddin
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland
    Invest Ophthalmol Vis Sci 46:2264-70. 2005
  9. pmc Mutation spectrum of PAX6 in Chinese patients with aniridia
    Xiaohui Zhang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou 510060, China
    Mol Vis 17:2139-47. 2011
  10. pmc Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism
    Shaohua Fang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, People s Republic of China
    Mol Vis 14:1974-82. 2008

Collaborators

Detail Information

Publications87

  1. pmc Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients
    A Mei Zhang
    Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China
    J Transl Med 10:43. 2012
    ..The majority of LHON patients are caused by one of the three primary mutations (m.3460G > A, m.11778G > A and m.14484T > C). Rare pathogenic mutations have been occasionally reported in LHON patients...
  2. ncbi request reprint FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus
    Qingjiong Zhang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 13:1375-8. 2007
    ..To identify mutations causing X-linked congenital motor nystagmus (XL-CMN) in Chinese families...
  3. ncbi request reprint Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene
    Qingjiong Zhang
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20982, USA
    Hum Genet 122:293-9. 2007
    ..The mutation was not detected in 192 chromosomes of unrelated control individuals of the same ethnicity and from the same region. This delineates the phenotypic characteristics of retinopathy caused by mutations in PROM1...
  4. ncbi request reprint Confirmation of a genetic locus for X-linked recessive high myopia outside MYP1
    Qingjiong Zhang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, 54 Xianlie Road, Guangzhou, 510060, People s Republic of China
    J Hum Genet 52:469-72. 2007
    ..We recently studied a Chinese family with X-linked high myopia and mapped the high myopia locus to Xq25-q27.2. This linked region overlapped with that of MYP13 but was outside MYP1...
  5. ncbi request reprint The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals
    Qingjiong Zhang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Invest Ophthalmol Vis Sci 48:530-3. 2007
    ..The purpose of this study was to detect the 208delG mutation in Chinese individuals, with or without hereditary retinal degeneration...
  6. pmc Mutations in NYX of individuals with high myopia, but without night blindness
    Qingjiong Zhang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 13:330-6. 2007
    ..High myopia is usually observed in patients with CSNB1. This study was designed to test the possibility that mutations in the NYX gene might cause high myopia without congenital stationary night blindness (CSNB)...
  7. ncbi request reprint A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612
    Qingjiong Zhang
    Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, People s Republic of China
    Mol Vis 11:554-60. 2005
    ..A large Chinese family with autosomal dominant high myopia was collected in order to map the genetic locus as an initial step towards identifying the genetic cause of high myopia in this family...
  8. ncbi request reprint Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families
    S Amer Riazuddin
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland
    Invest Ophthalmol Vis Sci 46:2264-70. 2005
    ..To localize and identify the gene and mutations causing autosomal recessive retinitis pigmentosa in three consanguineous Pakistani families...
  9. pmc Mutation spectrum of PAX6 in Chinese patients with aniridia
    Xiaohui Zhang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou 510060, China
    Mol Vis 17:2139-47. 2011
    ..To identify mutations in the paired box 6 (PAX6) gene of 33 probands with aniridia and to reveal the mutational spectrum in the Chinese population...
  10. pmc Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism
    Shaohua Fang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, People s Republic of China
    Mol Vis 14:1974-82. 2008
    ..In the present study, the mutation analysis of G protein-coupled receptor 143 gene (GPR143) and clinical characteristics were assessed in Chinese patients with OA1...
  11. ncbi request reprint A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene
    Qingjiong Zhang
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 1860, USA
    Mol Vis 11:977-85. 2005
    ..The purpose of this paper is to map the locus for a variant form of Oguchi disease in a Pakistani family and to identify the causative mutation...
  12. ncbi request reprint CSNB1 in Chinese families associated with novel mutations in NYX
    Xueshan Xiao
    Key Laboratory of Ophthalmology of the Ministry of Education and Zhongshan Ophthalmic Center, Sun Yat Sen University, 54 Xianlie Road, Guangzhou, 510060, PR China
    J Hum Genet 51:634-40. 2006
    ..281G>C mutation cosegregated with nyctalopia and myopia. Our results expand the mutation spectrum of NYX and enrich the clinical information related to NYX mutation. The importance of associated myopia with NYX mutations is discussed...
  13. pmc Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations
    Lin Li
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 17:3326-32. 2011
    ..To identify the causative gene for autosomal recessive Leber congenital amaurosis (LCA) in a Chinese family...
  14. doi request reprint Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa
    Yanli Ji
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, PR China
    Curr Eye Res 35:73-9. 2010
    ..To identify mutations in the RPGR and RP2 genes from Chinese families with X-linked retinitis pigmentosa (XLRP)...
  15. pmc Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma
    Mei Yang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, PR China
    Mol Vis 15:432-7. 2009
    ..This study was conducted to investigate the mutation spectrum of the cytochrome P450 gene (CYP1B1) in Chinese patients with primary congenital glaucoma (PCG)...
  16. ncbi request reprint PAX6 mutations identified in 4 of 35 families with microcornea
    Panfeng Wang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Invest Ophthalmol Vis Sci 53:6338-42. 2012
    ..However, systemic evaluation of PAX6 in patients with microcornea as the major sign has not been reported. This study aims to detect PAX6 mutations in patients with microcornea...
  17. doi request reprint High myopia is not associated with the SNPs in the TGIF, lumican, TGFB1, and HGF genes
    Panfeng Wang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Invest Ophthalmol Vis Sci 50:1546-51. 2009
    ..This study was conducted to verify the reported positive association results by analysis of subjects from the same region...
  18. doi request reprint Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy
    Li Huang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, Guangdong 510060, P R China
    Mol Med Rep 7:1779-85. 2013
    ..These data suggest that in Chinese patients, CORD may be caused by mutations in exons that have not yet been screened or in genes that have yet to be identified. Further analysis of these patients may provide clarification...
  19. doi request reprint Nonsyndromic high myopia in a Chinese family mapped to MYP1: linkage confirmation and phenotypic characterization
    Xiangming Guo
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Arch Ophthalmol 128:1473-9. 2010
    ..To identify the genetic locus for X-linked nonsyndromic high myopia in a large Chinese family...
  20. ncbi request reprint Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4
    Qingjiong Zhang
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Building 10, Room 10B10, 10 Center Drive, MSC 1860, Bethesda, MD, 20892 1860, USA
    Hum Genet 118:356-65. 2005
    ..This novel locus lies approximately 4.9 cM (7.1 Mbp) from ABCA4, which is excluded from the linked region. Identification and study of this gene may help to elucidate the phenotypic diversity of arRP mapping to this region...
  21. pmc Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP
    Xueshan Xiao
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 17:2049-55. 2011
    ..To identify the genetic defect in a large Chinese family with autosomal dominant cerulean cataract...
  22. pmc Association of markers at chromosome 15q14 in Chinese patients with moderate to high myopia
    Xiaodong Jiao
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD, USA
    Mol Vis 18:2633-46. 2012
    ..To investigate the association of two reported regions on chromosome 15 with moderate to high myopia in two Chinese cohorts from southern China...
  23. pmc Mutation analysis of 12 genes in Chinese families with congenital cataracts
    Wenmin Sun
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 17:2197-206. 2011
    ..To identify mutations in 12 genes in Chinese families with congenital cataracts...
  24. pmc Replication study of significant single nucleotide polymorphisms associated with myopia from two genome-wide association studies
    Qin Wang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, 54 Xianlie Road, Guangzhou, China
    Mol Vis 17:3290-9. 2011
    ..The present study examined whether these markers are associated with myopia in a Chinese population...
  25. doi request reprint The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations
    Yang Zou
    Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China
    Biochem Biophys Res Commun 399:179-85. 2010
    ..Variants m.3736G>A (p.V144I) in family Le1235 and m.10680G>A (p.A71T) in Le1107 can be the pathogenic mutations for LHON...
  26. pmc A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family
    Xueshan Xiao
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, 54 Xianlie Road, Guangzhou, China
    Mol Vis 17:3271-8. 2011
    ..To identify the genetic locus and mutation responsible for autosomal dominant cone dystrophy (adCOD) in a large Chinese family and to describe the phenotypes of the patients...
  27. doi request reprint Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy
    Xueshan Xiao
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, PR China
    Biochem Biophys Res Commun 409:181-6. 2011
    ..3%, and 10.3%, respectively). Our results expand the mutation spectrum of CYP4V2 and demonstrate an overview of the CYP4V2 mutation spectrum and its frequency in families with BCD. BCD is a clinically and genetically homogenous disease...
  28. pmc Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma
    Xiaohui Zhang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 15:2911-8. 2009
    ..To screen ten genes for mutations in 32 Chinese patients with microphthalmia and/or coloboma...
  29. ncbi request reprint Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family
    Qingjiong Zhang
    Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, Peoples Republic of China
    Mol Vis 10:890-900. 2004
    ..To describe the clinical characteristics of a Y-sutural cataract associated with myopia in a large Chinese family and to identify the causative gene and mutation...
  30. ncbi request reprint Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families
    S Amer Riazuddin
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Invest Ophthalmol Vis Sci 46:2100-6. 2005
    ..To identify the disease locus for autosomal recessive congenital cataracts in consanguineous Pakistani families...
  31. doi request reprint Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy
    Li Huang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou 510060, China
    Neurosci Lett 541:179-83. 2013
    ..The results of this study suggested that the GUCA1A mutation only contributes to a small portion of CORD in people of Chinese descent...
  32. doi request reprint Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy
    Dandan Yu
    Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China
    Neurogenetics 11:349-56. 2010
    ..Taken together, our results suggested that the m.3460G>A mutation occurred multiple times in Chinese LHON patients. The heteroplasmic status of mutation m.3460G>A might influence the penetrance of LHON in family Le688...
  33. ncbi request reprint A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family
    S Amer Riazuddin
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892 1860, USA
    Invest Ophthalmol Vis Sci 46:623-6. 2005
    ..To identify the disease locus of autosomal recessive congenital nuclear cataracts in a consanguineous Pakistani family...
  34. pmc A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly
    Xiuhua Jia
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, People s Republic of China
    Mol Vis 16:676-81. 2010
    ..To identify novel mutation in the PAX6 (paired box gene 6) gene and characterize new clinical features of severe ocular malformation in a Chinese patient with Peters' anomaly...
  35. pmc Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese
    Yanli Ji
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, 54 Xianlie Road, Guangzhou, China
    Mol Vis 16:416-24. 2010
    ..To test the association of the X-chromosome regions (Xp21.1-q21.2 and Xq25-27.2) with Leber hereditary optic neuropathy (LHON) in Chinese patients...
  36. ncbi request reprint Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1
    Xiangming Guo
    Key Laboratory of Ophthalmology of the Ministry of Education and Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou 510060, China
    J Hum Genet 51:695-700. 2006
    ..Clinically and genetically, the disease in this family is different from any known disease. Major features of CASM syndrome that distinguish it from other diseases are X-linked inheritance and cataracts in carrier females...
  37. doi request reprint Identification and characterization of novel alternative splice variants of human SAMD11
    Guorong Jin
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Gene 530:215-21. 2013
    ..In conclusion, this study elucidated the basic characteristics of human SAMD11 and revealed that, although the occurrence of alternative splicing of SAMD11 was conserved, the function of SAMD11 may vary in different species...
  38. pmc Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy
    Yabin Chen
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou 510060, China
    Mol Vis 19:292-302. 2013
    ..The purpose of this study was to detect OPA1 gene mutations and associated phenotypes in Chinese patients with suspected hereditary optic neuropathy...
  39. pmc Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy
    Huiqin Yang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, PR China
    Mol Vis 18:2438-46. 2012
    ..To identify mutations in FZD4 and LRP5 in 49 Chinese families with familial exudative vitreoretinopathy (FEVR) and to reveal the mutation spectrum and frequency of these genes in the Chinese population...
  40. doi request reprint Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness
    Qin Wang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, P R China
    Int J Mol Med 30:521-6. 2012
    ..No variations were found in TRPM1. The results expand the mutation spectrum of NYX, CACNA1F and GRM6. They also suggest that NYX mutations are a common cause of CSNB...
  41. pmc Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation
    Yanli Ji
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Am J Hum Genet 83:760-8. 2008
    ..These findings will assist in further understanding the pathogenesis of LHON and guide future genetic counseling in East Asian patients with m.11778G-->A...
  42. doi request reprint No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778G>A
    A Mei Zhang
    Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, 650223, China
    Hum Genet 128:465-8. 2010
    ..We identified no association between these PARL gene SNPs and LHON in Chinese patients with m.11778G>A (P>0.05). Haplotype analysis also showed no statistical difference among the three Chinese populations...
  43. doi request reprint KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1
    Panfeng Wang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, PR China
    Int J Mol Med 28:973-5. 2011
    ..Deletion mutation in KIF21A has not been previously reported. Our study expands the KIF21 mutation spectrum. This study adds to the current state of knowledge about KIF21A mutations and CFEOM1, which may improve future clinical practice...
  44. pmc PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1
    Juan Wang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, PR China
    Mol Vis 16:1146-53. 2010
    ..To detect paired box gene 3 (PAX3) mutations and associated phenotypes in Chinese patients with Waardenburg syndrome type 1 (WS1)...
  45. pmc Mutational screening of six genes in Chinese patients with congenital cataract and microcornea
    Wenmin Sun
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 17:1508-13. 2011
    ..To identify mutations in 6 genes of 9 Chinese families with congenital cataract and microcornea...
  46. doi request reprint Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis
    Yabin Chen
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Invest Ophthalmol Vis Sci 54:4351-7. 2013
    ..Leber congenital amaurosis (LCA) is a genetically heterogeneous disease with, to date, 19 identified causative genes. Our aim was to evaluate the mutations in all 19 genes in Chinese families with LCA...
  47. doi request reprint Overexpression of Six1 leads to retardation of myogenic differentiation in C2C12 myoblasts
    Zhixue Li
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Biol Rep 40:217-23. 2013
    ..These findings further demonstrate the functional role of Six1 in myogenesis...
  48. pmc Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia
    Qin Wang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 16:303-9. 2010
    ..The objective of this study is to investigate whether an mtDNA background is associated with myopia...
  49. doi request reprint Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease
    Huiqin Yang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Curr Eye Res 37:726-9. 2012
    ..To screen mutations in the norrin (NDP) gene in 44 unrelated Chinese patients with familial exudative vitreoretinopathy (FEVR, 38 cases) or Norrie disease (6 cases) and to describe the associated phenotypes...
  50. doi request reprint High myopia is not associated with single nucleotide polymorphisms in the COL2A1 gene in the Chinese population
    Juan Wang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, Guangdong 510060, PR China
    Mol Med Rep 5:133-7. 2012
    ..We do not find evidence to support an association of SNP rs1635529 in COL2A1 with high myopia in the Chinese population studied, nor of the other two SNPs (rs60542319 and rs954326)...
  51. ncbi request reprint Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation
    Qingjiong Zhang
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 1860, USA
    Mol Vis 10:884-9. 2004
    ..To map the locus for autosomal recessive retinitis pigmentosa in a large Pakistani family and to determine the causative mutation...
  52. pmc Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis
    Lin Li
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, Guangdong, China
    PLoS ONE 6:e19458. 2011
    ..Therefore, we performed comprehensive detection of variants in these 15 genes in 87 unrelated Han Chinese patients with LCA...
  53. ncbi request reprint Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families
    S Amer Riazuddin
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 1860, USA
    Mol Vis 12:1283-91. 2006
    ..To localize and identify the gene and mutations causing autosomal recessive retinitis pigmentosa (RP) in consanguineous Pakistani families...
  54. doi request reprint Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A
    Hua Wei Wang
    Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China
    Mutat Res 643:48-53. 2008
    ..As a result, it is likely that unknown nuclear gene involvement and/or other factors contribute to the strikingly different penetrance of LHON...
  55. doi request reprint Common variants in chromosome 4q25 are associated with myopia in Chinese adults
    Yang Gao
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Ophthalmic Physiol Opt 32:68-73. 2012
    ..The original study suggested replication studies were needed to validate these results. The aim of our study was to examine if these SNPs are associated with myopia in a different set of samples...
  56. pmc Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia
    Zhikuan Yang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, P R China
    Mol Vis 15:312-8. 2009
    ..Data from a consanguineous Chinese family with arHM were collected to map the genetic locus associated with this condition...
  57. pmc An evaluation of OPTC and EPYC as candidate genes for high myopia
    Panfeng Wang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, P R China
    Mol Vis 15:2045-9. 2009
    ..The purpose of this study was to test whether mutations in the two members of the class III SLRPs, opticin (OPTC) and dermatan sulfate proteoglycan 3 (EPYC), are responsible for high myopia...
  58. doi request reprint Replication study supports CTNND2 as a susceptibility gene for high myopia
    Boyu Lu
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Invest Ophthalmol Vis Sci 52:8258-61. 2011
    ..This study evaluated such associations in an independent case-control series...
  59. pmc Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes
    Li Huang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, Guangdong, China
    PLoS ONE 8:e65546. 2013
    ..The goal of this study was to identify mutations in 25 known causative genes in 47 unrelated Chinese families with cone-rod dystrophy (CORD)...
  60. doi request reprint Novel SOX2 mutation associated with ocular coloboma in a Chinese family
    Panfeng Wang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, 54 Xianlie Rd, Guangzhou 510060, China
    Arch Ophthalmol 126:709-13. 2008
    ..To report a novel SOX2 (OMIM 184429) mutation in a Chinese family and to describe its ocular and extraocular clinical features...
  61. doi request reprint CRX variants in cone-rod dystrophy and mutation overview
    Li Huang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou 510060, China
    Biochem Biophys Res Commun 426:498-503. 2012
    ..78%), nonsense (4.08%), deletion (36.73%), insertion (16.33%), and indel (4.08%). They distributed in the three coding exons without mutation hot spots. No clear genotype-phenotype correlation could be established so far...
  62. pmc Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in Chinese patients
    A Mei Zhang
    Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, China
    PLoS ONE 6:e27750. 2011
    ..2, adjusted P-value = 0.004). Our result shows that mtDNA background affects LHON in Chinese patients with m.11778G>A but not suspected LHON. Haplogroup F has a protective effect against LHON, while M7b is a risk factor...
  63. doi request reprint Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber's hereditary optic neuropathy
    A Mei Zhang
    Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Jiaochang Donglu 32, Kunming, Yunnan 650223, China
    Biochem Biophys Res Commun 376:221-4. 2008
    ..To our knowledge, this is the first report that identified the co-existence of a deafness mutation A1555G and a primary LHON mutation G11778A in one family...
  64. doi request reprint Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation
    Xueshan Xiao
    Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Am J Med Genet A 149:1786-8. 2009
    ..There was apparent mosaic pigmentation of the fundus. Our results demonstrate atypical manifestation of OA1 that might enrich our knowledge of phenotypic variation of OA1 among the Chinese population...
  65. pmc Association of the single nucleotide polymorphisms in the extracellular matrix metalloprotease-9 gene with PACG in southern China
    Yanhong Cong
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, People s Republic of China
    Mol Vis 15:1412-7. 2009
    ..To study the association of the single nucleotide polymorphisms (SNPs) rs17576 and rs2250889 in the extracellular matrix metalloprotease-9 (MMP-9) gene with primary angle closure glaucoma (PACG) in southern Chinese patients...
  66. ncbi request reprint Linkage analysis of two families with X-linked recessive congenital motor nystagmus
    Xiangming Guo
    Key Laboratory of Ophthalmology of the Ministry of Education, Sun Yat Sen University, Guangzhou, People s Republic of China
    J Hum Genet 51:76-80. 2006
    ..The nystagmus in these two families is linked to markers in the region of chromosome Xq23-q27, including DXS1001, DXS8009, and DXS1047. DXS1047 gave the highest lod score of 3.53 at theta = 0...
  67. ncbi request reprint Novel mutations of the PAX6 gene identified in Chinese patients with aniridia
    Panfeng Wang
    Key Laboratory of Ophthalmology of the Ministry of Education and Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, People s Republic of China
    Mol Vis 12:644-8. 2006
    ..Mutations in PAX6 are the major cause of aniridia. Only a few PAX6 mutations in Chinese have been reported. This study is to identify novel mutations in PAX6 of Chinese patients with aniridia...
  68. doi request reprint Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1
    Lin Li
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    J Hum Genet 57:756-9. 2012
    ..2 and narrows down the linked region to 5.90 cM (5.92 Mb). This study confirms and refines a novel locus for autosomal dominant CMN to chromosome 1q31.3-q32.1 (5.90 cM) and demonstrates its presence in the Chinese population...
  69. doi request reprint Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese
    A Mei Zhang
    Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China
    Biochem Biophys Res Commun 386:392-5. 2009
    ..3635G>A decreases the protein hydrophobicity. Our current observations provide further support for a pathogenic role of m.3635G>A in patients with LHON...
  70. pmc Sequence variations of GRM6 in patients with high myopia
    Xiaoyu Xu
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 15:2094-100. 2009
    ..High myopia is usually observed in CSNB1B patients. This study tested if any mutations in GRM6 were solely responsible for high myopia...
  71. pmc Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes
    Huiqin Yang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, PR China
    Mol Vis 17:1128-35. 2011
    ..The purpose of this study was to detect TSPAN12 mutations in Chinese patients with FEVR and to describe the associated phenotypes...
  72. pmc Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?
    A Mei Zhang
    Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China
    PLoS ONE 6:e26511. 2011
    ..593T>C on the LHON causing mutation m.11778G>A, the lack of statistical significance probably due to the relatively small sample size analyzed, makes necessary more studies to confirm this effect...
  73. ncbi request reprint Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy
    Xiaoyun Jia
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, 510060, China
    J Hum Genet 51:851-6. 2006
    ..2%) were identified from 775 probands with sporadic optic neuropathy. Affected male-to-female ratio was 4.6:1 for all probands but was 2.2:1 for family members. Average age at onset was 18.5 years, ranging from 4.5 to 47 years old...
  74. pmc FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
    Juan Wang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 13:108-13. 2007
    ..It is ascribed to mutations in the forkhead transcriptional factor2 (FOXL2) gene. The purpose of this study is to identify mutations in FOXL2 of Chinese patients with BPES...
  75. pmc Evaluation of MFRP as a candidate gene for high hyperopia
    Panfeng Wang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
    Mol Vis 15:181-6. 2009
    ..This study is to test if a mutation in MFRP is responsible for physiologic high hyperopia...
  76. doi request reprint mtDNA m.3635G>A may be classified as a common primary mutation for Leber hereditary optic neuropathy in the Chinese population
    Xiaoyun Jia
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou 510060, China
    Biochem Biophys Res Commun 403:237-41. 2010
    ..Patients with the m.3635G>A mutation demonstrated the typical phenotype of LHON. Our results provide strong evidence that similar to m.3460G>A, m.3635G>A is a pathogenic and common LHON mutation in the Chinese population...
  77. doi request reprint Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa
    Shiqiang Li
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, PR China
    Biochem Biophys Res Commun 401:42-7. 2010
    ..Our results demonstrate an overview of the spectrum and frequency of RP RHO mutations in a Chinese population and emphasize that RHO mutations in isolated RP are not uncommon...
  78. doi request reprint A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692
    Xueshan Xiao
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, 510060 Guangzhou, China
    Hum Genet 131:697-702. 2012
    ..A linkage study of additional families and further analysis of candidate genes may ultimately lead to identification of the gene responsible for dominantly inherited CMN...
  79. ncbi request reprint mtDNA haplogroup distribution in Chinese patients with Leber's hereditary optic neuropathy and G11778A mutation
    Yanli Ji
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou 510060, China
    Biochem Biophys Res Commun 364:238-42. 2007
    ..mtDNA background might affect the expression of LHON and the G11778A mutation in Chinese population...
  80. pmc Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2
    Anren Li
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD 20892, USA
    Am J Hum Genet 74:817-26. 2004
    ..Homology to other CYP450 proteins suggests that CYP4V2 may have a role in fatty acid and steroid metabolism, consistent with biochemical studies of patients with BCD...
  81. pmc Protective effects of tetramethylpyrazine on rat retinal cell cultures
    Zhikuan Yang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, 54 Xianlie Road, Guangzhou 510060, China
    Neurochem Int 52:1176-87. 2008
    ..These results suggest that tetramethylpyrazine protect retinal cells through multiple pathways and might be a potential therapeutic candidate for retinal protection in certain optic neuropathies...
  82. doi request reprint DNA methyltransferase inhibitor CDA-II inhibits myogenic differentiation
    Zirong Chen
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou 510060, China
    Biochem Biophys Res Commun 422:522-6. 2012
    ..Thus, our data provide the first evidence that CDA-II inhibits growth and differentiation of muscle progenitor cells, suggesting that the use of CDA-II might affect skeletal muscle functions...
  83. ncbi request reprint Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation
    Xueshan Xiao
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, P R China
    Ophthalmic Genet 33:119-21. 2012
    ..Arg217X) mutation in PAX6 was detected in the proband and his affected son. This study expands the phenotypic spectrum of PAX6 mutation and enriched our knowledge of the genetic cause for microphthalmia and late-onset keratitis...
  84. ncbi request reprint [Transcription changes of alpha A-crystallins gene during the development of retinal degeneration in Rd, Rds and C3H mouse]
    Dajiang Li
    Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou 510060, China
    Yan Ke Xue Bao 18:115-8. 2002
    ..To determine the relationship between retinal alpha A-crystallins and the development of retinal degeneration in rd, rds and C3H mice...
  85. ncbi request reprint Further evidence of autosomal-dominant Leber congenital amaurosis caused by heterozygous CRX mutation
    Panfeng Wang
    Graefes Arch Clin Exp Ophthalmol 245:1401-2. 2007
  86. ncbi request reprint Insights into the beaded filament of the eye lens
    Ming Der Perng
    School of Biological and Biomedical Sciences, The University of Durham, DH1 3LE, UK
    Exp Cell Res 313:2180-8. 2007
    ..The multiple sequence divergences suggest these proteins have been adapted to the specific functional requirements of lens fibre cells, a function that can be traced from squid to man...
  87. pmc Evaluation of EGR1 as a candidate gene for high myopia
    Tuo Li
    Department of Ophthalmology, Renmin Hospital, Wuhan University, Wuhan, China
    Mol Vis 14:1309-12. 2008
    ..The purpose of this study was to test whether variations in the human EGR1 gene are related to high myopia...