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
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
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
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