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Journal
Presentation
    （Last updated : 2022-06-09 11:33:23）
  Lee Tomoko
   Department   Specialty Division  Pediatrics, Clinical Medicine Seminars
   Position  
■ Journal
1. Original article　 A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy. 2014/08
2. Original article　 Validation of ambiguous MLPA results by targeted next-generation sequencing discloses a nonsense mutation in the DMD gene. 2014/09
3. Original article　 Standard values for the urine HVA/VMA ratio in neonates as a screen for Menkes disease. 2015/01
4. Original article　 Phosphorothioate modification of chimeric 2´-O-methyl RNA/ethylene-bridged nucleic acid oligonucleotides increases dystrophin exon 45 skipping capability and reduces cytotoxicity. 2015/02
5. Original article　 Tissue- and case-specific retention of intron 40 in mature dystrophin mRNA. 2015/06
6. Original article　 Resveratrol enhances splicing of insulin receptor exon 11 in myotonic dystrophy type 1 fibroblasts. 2015/08
7. Original article　 Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother. 2016/04
8. Original article　 HEK293 cells express dystrophin Dp71 with nucleus-specific localization of Dp71ab. 2016/09
9. Original article　 Reply to the letter:"Neonatal screening for Menkes disease using urine HVA/VMA ratio". 2016/09
10. Original article　 Staurosporine allows dystrophin expression by skipping of nonsense-encoding exon. 2016/09
11. Introduction　 2'-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping. 2017/02
12. Original article　 Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS. 2017/04
13. Original article　 Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophy. 2017/11
14. Original article　 Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophy. 2017/11
15. Original article　 Patients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup. 2017/11
16. Original article　 Ambulatory capacity in Japanese patients with Duchenne muscular dystrophy. 2018/06
17. Case report　 Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation 2018/08
18. Case report　 Two closely spaced mutations incis result in Ullrich congenital muscular dystrophy 2019/04
19. Case report　 A japanese case of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia. 2019/06
20. Original article　 Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients 2020/11
21. Original article　 Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan. 2021/07
22. Original article　 Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan. 2021/07
23. Original article　 Underlying diseases in sporadic presentation of high creatine kinase levels in girls. 2021/08
24. Original article　 Views of the General Population on Newborn Screening for Spinal Muscular Atrophy in Japan. 2021/08
25. Original article　 Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells. 2021/09
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■ Presentation
1. Splice site strength and the density of ESE and ESS motifs determine splicing pattern in the cases with splice site mutations in the dystrophin gene  2014/07/07
2. Chronological change of cardiac function in 143 Duchenne muscular dystrophy patients  2015/05/14
3. A new antisense oligonucleotide composed of RNA/ENA chimera (AO85) against dystrophin exon 45 significantly increased six-minute walk distance in Duchenne muscular dystrophy  2016/03/14
4. Evaluating biomarkers and natural history of Fukuyama Congenital Muscular Dystrophy  2016/04/04
5. Advantage of next generation sequencing in molecular diagnosis in DMD -mutation screening with long preserved dried umbilical cord and detection of mosaicism-  2016/04/06
6. RNA/ENA chimera antisense oligonucleotide (AO85) was safely administered and shown to induce dystrophin exon 45 skipping in Duchenne muscular dystrophy patient: the first clinical study  2016/04/07
7. Cryptic splice site activation by a splice donor site mutation of dystrophin intron 64 is determined by intronic splicing regulatory elements  2016/10/05
8. Height is significantly shorter in Duchenne muscular dystrophy than Becker muscular dystrophy and the incidence of short stature is highest in Dp71 mutated subgroup  2016/10/05
9. Evaluating motor functions and biomarkers for Fukuyama type congenital muscular dystrophy  2016/10/21
10. A case with late-onset Ornithine transcarbamylase deficiency caused by a somatic mosaic framshift mutation  2017/10/16
11. Clinical background of hyper-creatine-kinase-emia girls without a family history of genetic muscular diseases  2019/06/15
12. A manifesting carrier of Duchenne Muscular Dystrophy with a balanced X-autosome translocation with a breakpoint in the dystrophin gene.  2019/10/01
13. Urinary titin is elevated in spinal muscular atrophy.  2019/10/01
14. Practical applications of written consent for genetic testing  2019/11/07
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