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Journal
Presentation
    （Last updated : 2023-11-18 10:39:15）
  Takeshima Yasuhiro
   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　 Association of a vascular endothelial growth factor polymorphism with the development of bronchopulmonary dysplasia in Japanese premature newborns. 2014/08
3. Original article　 The first report of adolescent TAFRO syndrome, a unique clinicopathologic variant of multicentric Castleman's disease. 2014/09
4. Original article　 Validation of ambiguous MLPA results by targeted next-generation sequencing discloses a nonsense mutation in the DMD gene. 2014/09
5. Original article　 Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients. 2014/11
6. Original article　 The emergence of CD20-/CD19- tumor cells after rituximab therapy for Epstein-Barr virus-associated post-transplant lymphoproliferative disorder complicated with hemophagocytic lymphohistiocytosis. 2014/12
7. Original article　 Standard values for the urine HVA/VMA ratio in neonates as a screen for Menkes disease. 2015/01
8. Original article　 Exonic Mutations in the SLC12A3 Gene Cause Exon Skipping and Premature Termination in Gitelman Syndrome. 2015/02
9. 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
10. Original article　 Involvement of aldehyde dehydrogenase 1A2 in the regulation of cancer stem cell properties in neuroblastoma. 2015/03
11. Original article　 Tissue- and case-specific retention of intron 40 in mature dystrophin mRNA. 2015/06
12. Original article　 Glycine plays a crucial role as a co-agonist of NMDA receptors in the neuronal circuit generating body movements in rat fetuses. 2015/08
13. Original article　 Resveratrol enhances splicing of insulin receptor exon 11 in myotonic dystrophy type 1 fibroblasts. 2015/08
14. Original article　 Combining passive leg-lifting with transmural myocardial strain profile for enhanced predictive capability for subclinical left ventricular dysfunction in Duchenne muscular dystrophy. 2015/09
15. Introduction　 Contributions of Japanese patients to development of antisense therapy for DMD. 2016/01
16. Original article　 Epidemiological survey and clinical investigation of pediatric IgA nephropathy. 2016/02
17. Original article　 Rituximab treatment for relapsed opsoclonus-myoclonus syndrome. 2016/03
18. 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
19. Original article　 Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate. 2016/07
20. Original article　 HEK293 cells express dystrophin Dp71 with nucleus-specific localization of Dp71ab. 2016/09
21. Original article　 Reply to the letter:"Neonatal screening for Menkes disease using urine HVA/VMA ratio". 2016/09
22. Original article　 Staurosporine allows dystrophin expression by skipping of nonsense-encoding exon. 2016/09
23. Introduction　 2'-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping. 2017/02
24. 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
25. Original article　 SMA mutations in SMN Tudor and C-terminal domains destabilize the protein. 2017/08
26. Original article　 Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA. 2017/10
27. Original article　 Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophy. 2017/11
28. Original article　 Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophy. 2017/11
29. 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
30. Case report　 Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2. 2017/12
31. Case report　 Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening. 2018/01
32. Original article　 Ambulatory capacity in Japanese patients with Duchenne muscular dystrophy. 2018/06
33. Case report　 Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation 2018/08
34. Case report　 Two closely spaced mutations incis result in Ullrich congenital muscular dystrophy 2019/04
35. 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
36. Original article　 Nested PCR Amplification Secures DNA Template Quality and Quantity in Real-time mCOP-PCR Screening for SMA. 2019/07
37. Original article　 RNA sequencing reveals abnormal LDB3 splicing in sudden cardiac death. 2019/07
38. Original article　 Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion. 2019/07
39. Original article　 Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion. 2019/07
40. Case report　 A newborn case of jejunal ALK-negative inflammatory myofibroblastic tumor with ETV6-NTRK3 fusion 2019/10
41. Original article　 Newborn Screening for Spinal Muscular Atrophy: DNA Preparation from Dried Blood Spot and DNA Polymerase Selection in PCR. 2019/11
42. Original article　 Paternal occupational exposure to chemicals and secondary sex ratio: results from the Japan Environment and Children's Study. 2019/12
43. Original article　 Clinical and upper gastrointestinal endoscopy feature of seven adolescents with Helicobacter pylori infection 2020/04
44. 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
45. Original article　 Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia. 2021/05
46. Original article　 Association between the serum insulin-like growth factor-1 concentration in the first trimester of pregnancy and postpartum depression. 2021/05
47. Original article　 Association between the serum insulin-like growth factor-1 concentration in the first trimester of pregnancy and postpartum depression. 2021/05
48. Original article　 Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan. 2021/07
49. Original article　 Feelings about pregnancy and mother-infant bonding as predictors of persistent psychological distress in the perinatal period: The Japan Environment and Children's Study. 2021/08
50. Original article　 Feelings about pregnancy and mother-infant bonding as predictors of persistent psychological distress in the perinatal period: The Japan Environment and Children's Study. 2021/08
51. Original article　 Phenotypes of SMA patients retaining SMN1 with intragenic mutation. 2021/08
52. Original article　 Emotional and behavioral problems in pediatric patients with migraine and tension-type headache. 2021/09
53. Original article　 Food Preferences of Patients with Citrin Deficiency. 2021/09
54. Original article　 Renadirsen, a Novel 2'OMeRNA/ENA(®) Chimera Antisense Oligonucleotide, Induces Robust Exon 45 Skipping for Dystrophin In Vivo. 2021/09
55. Original article　 Association between house renovation during pregnancy and wheezing in the first year of life: The Japan environment and children's study. 2021/10
56. Original article　 Association between house renovation during pregnancy and wheezing in the first year of life: The Japan environment and children's study. 2021/10
57. Original article　 Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots. 2021/10
58. Original article　 Effects of early-life exposure to dust mite allergen and endotoxin on the development of asthma and wheezing: The Japan Environment and Children's Study. 2021/10
59. Original article　 DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in G6PC by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis. 2021/11
60. Original article　 Association between maternal insecticide use and otitis media in one-year-old children in the Japan Environment and Children's Study. 2022/01
61. Original article　 Early Developmental Signs in Children with Autism Spectrum Disorder: Results from the Japan Environment and Children's Study. 2022/01
62. Other　 Intrahepatic multiple tumor-like lesions: Complication of congenital syphilis 2022/01
63. Other　 Reply to letter to editor "Children with migraine and tension-type headache: Do they have behavioral and emotional issues?". 2022/01
64. Original article　 Effects of Screen Viewing Time on Sleep Duration and Bedtime in Children Aged 1 and 3 Years: Japan Environment and Children's Study 2022/03
65. Original article　 Analysis of the preventive treatment for migraines and Tension-type headaches. 2022/04
66. Original article　 High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts 2022/04
67. Original article　 Association of epidural analgesia during labor with neurodevelopment of children during the first three years: the Japan Environment and Children’s Study 2022/09
68. Original article　 PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. 2022/11
69. Original article　 Analyzing the relationship between feelings about pregnancy and mother-infant bonding with the onset of maternal psychological distress after childbirth: The Japan Environment and Children's Study 2023/05
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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. A case with de novo 4q deletion （Oral presentation，General Lecture） 2016/04/04
5. Evaluating biomarkers and natural history of Fukuyama Congenital Muscular Dystrophy （Oral presentation，General Lecture） 2016/04/04
6. 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
7. 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
8. 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
9. 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
10. Evaluating motor functions and biomarkers for Fukuyama type congenital muscular dystrophy （Poster presentation，General Lecture） 2016/10/21
11. A fetus with lethal chromosomal abnormality lead to a spontaneous abortion in the first trimester （Poster presentation，General Lecture） 2017/06/15
12. Stunning pharmacological properties of DS-5141b, an antisense oligonucleotide consisting of 2'-o,4'-c-ethylene-bridged nucleic acids and 2'-o-methyl RNA, on dystrophin mRNA exon skipping （Poster presentation，General Lecture） 2017/10/04
13. A case with late-onset Ornithine transcarbamylase deficiency caused by a somatic mosaic framshift mutation （Oral presentation，General Lecture） 2017/10/16
14. Stunning clinical effectiveness of RNA/ENA
chimera antisense oligonucleotide (AO85) against dystrophin exon 45 in DMD patient （Oral presentation，Plenary Lecture(Session)） 2018/02/27
15. A Japanese phase I/II study of NS-065/NCNP-01, exon 53 skipping drug, in patients with Duchenne muscular
dystrophy - a dose-finding study （Poster presentation，General Lecture） 2018/10/03
16. Clinical background of hyper-creatine-kinase-emia girls without a family history of genetic muscular diseases （Oral presentation，General Lecture） 2019/06/15
17. THE RESPONSES OF D/L-VALINE IN TASTE SENSORY SYSTEM INTHE ISOLATED BRAIN STEM-SPINAL CORD WITH TONGUE PREPARATION （Poster presentation，General Lecture） 2019/09/10
18. 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
19. Urinary titin is elevated in spinal muscular atrophy. （Poster presentation，General Lecture） 2019/10/01
20. Practical applications of written consent for genetic testing （Poster presentation，General Lecture） 2019/11/07
21. 神戸市小児科医会学術講演会 （Oral presentation，General Lecture） 2021/07
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