Minghui Qin

Summary

Affiliation: Kyushu University
Country: Japan

Publications

  1. ncbi request reprint Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy
    Minghui Qin
    Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
    Hum Genet 122:615-23. 2008
  2. ncbi request reprint Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy
    Hiroyuki Kondo
    Department of Ophthalmology, Fukuoka University School of Medicine, Fukuoka, Japan
    Invest Ophthalmol Vis Sci 48:1276-82. 2007
  3. ncbi request reprint Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene
    Hiroyuki Kondo
    Department of Ophthalmology, Fukuoka University School of Medicine, Nanakuma, Jonanku, Fukuoka, Japan
    Ophthalmic Genet 28:220-3. 2007
  4. ncbi request reprint Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes
    Minghui Qin
    Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
    Hum Mutat 26:104-12. 2005
  5. ncbi request reprint Novel OPA1 mutations identified in Japanese pedigrees with optic atrophy
    Minghui Qin
    Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
    Mol Vis 12:485-91. 2006
  6. ncbi request reprint A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers
    Hiroyuki Kondo
    Department of Ophthalmology, Fukuoka University School of Medicine, 7 45 1 Nanakuma, Jonan ku, Fukuoka, 814 0180 Japan
    Invest Ophthalmol Vis Sci 45:4433-9. 2004
  7. pmc Pleiotrophin induces transdifferentiation of monocytes into functional endothelial cells
    Behrooz G Sharifi
    Atherosclerosis Research Center, Burns and Allen Research Institute, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Arterioscler Thromb Vasc Biol 26:1273-80. 2006

Collaborators

Detail Information

Publications7

  1. ncbi request reprint Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy
    Minghui Qin
    Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
    Hum Genet 122:615-23. 2008
    ..Our results illustrate the nature of FEVR in relation to Norrin signaling and further suggest the complexity of its disease causing mechanism...
  2. ncbi request reprint Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy
    Hiroyuki Kondo
    Department of Ophthalmology, Fukuoka University School of Medicine, Fukuoka, Japan
    Invest Ophthalmol Vis Sci 48:1276-82. 2007
    ..To search for mutations in the Norrie disease gene (NDP) in Japanese patients with familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) and to delineate the mutation-associated clinical features...
  3. ncbi request reprint Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene
    Hiroyuki Kondo
    Department of Ophthalmology, Fukuoka University School of Medicine, Nanakuma, Jonanku, Fukuoka, Japan
    Ophthalmic Genet 28:220-3. 2007
    ..To report the clinical features of a patient with familial exudative vitreoretinopathy (FEVR) associated with homozygous R417Q mutation in the frizzled-4 gene (FZD4)...
  4. ncbi request reprint Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes
    Minghui Qin
    Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
    Hum Mutat 26:104-12. 2005
    ..The profile of the mutations obtained in the current study further illustrates the complexity of the disease and provides a better understanding of the spectrum, frequencies, and genotype-phenotype correlation...
  5. ncbi request reprint Novel OPA1 mutations identified in Japanese pedigrees with optic atrophy
    Minghui Qin
    Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
    Mol Vis 12:485-91. 2006
    ..Our findings further establish the involvement of OPA1 mutation in Japanese patients with optic atrophy and serve as supportive evidence that haploinsufficiency of the OPA1 gene is the cause of the optic atrophy...
  6. ncbi request reprint A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers
    Hiroyuki Kondo
    Department of Ophthalmology, Fukuoka University School of Medicine, 7 45 1 Nanakuma, Jonan ku, Fukuoka, 814 0180 Japan
    Invest Ophthalmol Vis Sci 45:4433-9. 2004
    ..To identify possible mutations in known candidate genes in patients with autosomal recessive (ar) and simplex retinitis pigmentosa (RP), by using an established strategy of flexible, multiplexed, microsatellite-based homozygosity mapping...
  7. pmc Pleiotrophin induces transdifferentiation of monocytes into functional endothelial cells
    Behrooz G Sharifi
    Atherosclerosis Research Center, Burns and Allen Research Institute, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Arterioscler Thromb Vasc Biol 26:1273-80. 2006
    ..However, the effect of PTN on monocytes/macrophages remains unknown. We investigated the role of PTN in regulating the phenotype of monocytes/macrophages...