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Journal
Presentation
    （Last updated : 2023-06-10 17:29:04）
  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
26. Original article　 PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. 2022/11
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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 （Poster presentation，General Lecture） 2014/07/07
2. Chronological change of cardiac function in 143 Duchenne muscular dystrophy patients （Poster presentation，General Lecture） 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 （Poster presentation，General Lecture） 2016/03/14
4. Evaluating biomarkers and natural history of Fukuyama Congenital Muscular Dystrophy （Oral presentation，General Lecture） 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- （Poster presentation，General Lecture） 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 （Oral presentation，General Lecture） 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 （Poster presentation，General Lecture） 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 （Poster presentation，General Lecture） 2016/10/05
9. Evaluating motor functions and biomarkers for Fukuyama type congenital muscular dystrophy （Poster presentation，General Lecture） 2016/10/21
10. A case with late-onset Ornithine transcarbamylase deficiency caused by a somatic mosaic framshift mutation （Oral presentation，General Lecture） 2017/10/16
11. Clinical background of hyper-creatine-kinase-emia girls without a family history of genetic muscular diseases （Oral presentation，General Lecture） 2019/06/15
12. A manifesting carrier of Duchenne Muscular Dystrophy with a balanced X-autosome translocation with a breakpoint in the dystrophin gene. （Poster presentation，General Lecture） 2019/10/01
13. Urinary titin is elevated in spinal muscular atrophy. （Poster presentation，General Lecture） 2019/10/01
14. Practical applications of written consent for genetic testing （Poster presentation，General Lecture） 2019/11/07
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