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Journal
Presentation
    （Last updated : 2022-11-29 13:40:51）
  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
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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. A case with de novo 4q deletion  2016/04/04
5. Evaluating biomarkers and natural history of Fukuyama Congenital Muscular Dystrophy  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-  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  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  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  2016/10/05
10. Evaluating motor functions and biomarkers for Fukuyama type congenital muscular dystrophy  2016/10/21
11. A fetus with lethal chromosomal abnormality lead to a spontaneous abortion in the first trimester  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  2017/10/04
13. A case with late-onset Ornithine transcarbamylase deficiency caused by a somatic mosaic framshift mutation  2017/10/16
14. Stunning clinical effectiveness of RNA/ENA
chimera antisense oligonucleotide (AO85) against dystrophin exon 45 in DMD patient  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  2018/10/03
16. Clinical background of hyper-creatine-kinase-emia girls without a family history of genetic muscular diseases  2019/06/15
17. THE RESPONSES OF D/L-VALINE IN TASTE SENSORY SYSTEM INTHE ISOLATED BRAIN STEM-SPINAL CORD WITH TONGUE PREPARATION  2019/09/10
18. A manifesting carrier of Duchenne Muscular Dystrophy with a balanced X-autosome translocation with a breakpoint in the dystrophin gene.  2019/10/01
19. Urinary titin is elevated in spinal muscular atrophy.  2019/10/01
20. Practical applications of written consent for genetic testing  2019/11/07
21. 神戸市小児科医会学術講演会  2021/07
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