Gaixiu Zhang
Gifu University
7 Papers
69 Citations
Gaixiu Zhang is an academic researcher from Gifu University. The author has contributed to research in topics: Exon & Thiolase. The author has an hindex of 5, co-authored 7 publications.
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Papers
Identification of Alu-mediated, large deletion-spanning exons 2-4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency.
TL;DR: The first case of a large T2 gene deletion from intron 1 to intron 4 in a T2-deficient patient (GK41) is reported, and alu element-mediated unequal homologous recombination between an Alu-Sx in introns 1 and another AlU-Y in intron4 appears to be responsible for this deletion.
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Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene.
Keitaro Yamada,Toshiyuki Fukao,Gaixiu Zhang,Satomi Sakurai,Jos P.N. Ruiter,Ronald J.A. Wanders,Naomi Kondo +6 more
TL;DR: A homozygous point mutation (c.671G>A) is identified, which is a single-base substitution at the last nucleotide of exon 6, in a Turkish patient (GS12) with SCOT deficiency, which resulted in the skipping of ex on 6, and exons 6 and 7 in human SCOT genes.
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Identification of Alu-mediated, large deletion-spanning introns 19–26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency)
Toshiyuki Fukao,Gaixiu Zhang,Yusuke Aoki,Takahiro Arai,Takahide Teramoto,Hideo Kaneko,Hideo Sugie,Naomi Kondo +7 more
TL;DR: It is presented the first case of a large PHKA2 gene deletion from intron 19 to intron 26 in an XLG patient, and alu element-mediated unequal homologous recombination between an Alu-Jo in intron19 and another AlU-Sg in introns 26 appears to be responsible for this deletion.
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CpG islands around exon 1 in the succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene are hypomethylated even in human and mouse hepatic tissues where SCOT gene expression is completely suppressed.
TL;DR: CpG islands around the promoter region of the SCOT gene were hypomethylated in the DNA from both human HepG2 cells and mouse liver, Hence, methylation status does not contribute to hepatocyte-specific SCot gene silencing.
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Mutation in the Q28SDD31SD site, but not in the two SQ sites of the survival of motor neuron protein, affects its foci formation.
TL;DR: It is demonstrated that phosphorylation in Q28SDD31SD may be important in cytosolic foci formation, and hypothesized that SMN is phosphorylated at two kinds of serine residues, the Q28 SDD31 SD site and two SQ sites.
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