M. Yagi

发表

Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.

Y. Takeshima, M. Matsuo, K. Saiki, 2007, The Kobe journal of medical sciences.

Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma

Y. Takeshima, M. Matsuo, T. Sakaeda, 2006, Journal of Human Genetics.

Novel cryptic exons identified in introns 2 and 3 of the human dystrophin gene with duplication of exons 8-11.

Y. Takeshima, M. Matsuo, A. Nishiyama, 2006, The Kobe journal of medical sciences.

A novel cryptic exon identified in the 3′ region of intron 2 of the human dystrophin gene

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2005, Journal of Human Genetics.

Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment.

H. Tsukahara, K. Ihara, T. Saheki, 2017, Molecular genetics and metabolism.

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

Zhujun Zhang, Y. Takeshima, H. Nishio, 2010, Journal of Human Genetics.

Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period.

H. Tsukahara, K. Ihara, T. Miyazaki, 2019, JIMD reports.

A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.

Y. Takeshima, M. Matsuo, H. Awano, 2010, Molecular genetics and metabolism.

Wide ranges of serum myostatin concentrations in Duchenne muscular dystrophy patients.

Y. Takeshima, M. Matsuo, K. Saiki, 2008, Clinica chimica acta; international journal of clinical chemistry.

A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.

Y. Takeshima, M. Matsuo, H. Awano, 2013, Gene.

EGFR mRNA is Upregulated, but Somatic Mutations of the Gene are Hardly Found in Renal Cell Carcinoma in Japanese Patients

A. Gotoh, T. Shirakawa, T. Sakaeda, 2005, Pharmaceutical Research.

Phosphorothioate modification of chimeric 2´-O-methyl RNA/ethylene-bridged nucleic acid oligonucleotides increases dystrophin exon 45 skipping capability and reduces cytotoxicity.

Y. Takeshima, M. Matsuo, M. Yagi, 2014, The Kobe journal of medical sciences.

Application of a wearable switch to perform a mouse left click for a child with mix type of cerebral palsy: a single case study

M. Yagi, S. Tsuneishi, S. Takada, 2020, Disability and rehabilitation. Assistive technology.

Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations

Y. Takeshima, M. Matsuo, T. Maeda, 2009, Pediatrics international : official journal of the Japan Pediatric Society.

Cholesterol Metabolism Is Enhanced in the Liver and Brain of Children With Citrin Deficiency

H. Tsukahara, K. Ihara, A. Honda, 2018, The Journal of clinical endocrinology and metabolism.

Intraperitoneal administration of phosphorothioate antisense oligodeoxynucleotide against splicing enhancer sequence induced exon skipping in dystrophin mRNA expressed in mdx skeletal muscle

Y. Takeshima, M. Matsuo, M. Yagi, 2005, Brain and Development.

A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy

Y. Takeshima, M. Matsuo, M. Yagi, 2014, Journal of Human Genetics.

Analysis of dystrophin mRNA from skeletal muscle but not from lymphocytes led to identification of a novel nonsense mutation in a carrier of Duchenne muscular dystrophy

Y. Takeshima, M. Matsuo, M. Yagi, 2003, Journal of Neurology.

Chemical treatment enhances skipping of a mutated exon in the dystrophin gene

M. Hagiwara, N. Kataoka, Y. Takeshima, 2011, Nature communications.

Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent

J. Inazawa, I. Morisaki, M. Yagi, 2015, Journal of Human Genetics.

High incidence of electrocardiogram abnormalities in young patients with duchenne muscular dystrophy.

Y. Takeshima, M. Matsuo, H. Awano, 2008, Pediatric neurology.

Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA

Y. Takeshima, M. Matsuo, H. Awano, 2010, Journal of Human Genetics.

Utility of transmural myocardial strain profile for prediction of early left ventricular dysfunction in patients with Duchenne muscular dystrophy.

K. Hirata, Y. Takeshima, S. Kawano, 2013, The American journal of cardiology.

Intravenous Infusion of an Antisense Oligonucleotide Results in Exon Skipping in Muscle Dystrophin mRNA of Duchenne Muscular Dystrophy

Y. Takeshima, M. Matsuo, T. Sakaeda, 2006, Pediatric Research.

A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro.

Y. Takeshima, M. Matsuo, M. Yagi, 2005, Molecular genetics and metabolism.

Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2010, BMC Medical Genetics.

Heterogous Dystrophin mRNA Produced by a Novel Splice Acceptor Site Mutation in Intermediate Dystrophinopathy

Y. Takeshima, M. Matsuo, M. Yagi, 2003, Pediatric Research.

Two closely spaced nonsense mutations in the DMD gene in a Malaysian family.

Y. Takeshima, M. Matsuo, T. H. Sasongko, 2011, Molecular genetics and metabolism.

Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2009, Journal of Human Genetics.

Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2008, Journal of Human Genetics.

A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2006, Human Genetics.

Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient

Y. Takeshima, M. Matsuo, M. Yagi, 2001, Brain and Development.

Assessment of Renal Function in Duchenne Muscular Dystrophy Patients Treated with Gentamicin

Y. Takeshima, M. Matsuo, T. Sakaeda, 2006 .

Effect of CPS14217C>A genotype on valproic‐acid‐induced hyperammonemia

M. Matsuo, T. Sakaeda, K. Okumura, 2010, Pediatrics international : official journal of the Japan Pediatric Society.

Mosaic tetrasomy 9p case with the phenotype mimicking Klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production.

Y. Takeshima, M. Matsuo, Wakako Ogino, 2007, The Kobe journal of medical sciences.

Chimeric RNA and 2'-O, 4'-C-ethylene-bridged nucleic acids have stronger activity than phosphorothioate oligodeoxynucleotides in induction of exon 19 skipping in dystrophin mRNA.

Y. Takeshima, M. Matsuo, M. Yagi, 2004, Oligonucleotides.

Optimizing RNA/ENA chimeric antisense oligonucleotides using in vitro splicing.

Y. Takeshima, M. Matsuo, M. Yagi, 2012, Methods in molecular biology.

In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G→A mutations in introns of the dystrophin gene

Y. Takeshima, M. Matsuo, K. Saiki, 2008, Journal of Medical Genetics.

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

H. Kurahashi, Y. Takeshima, H. Nishio, 2016, Journal of Human Genetics.

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

Y. Fukushima, J. Inazawa, S. Saitoh, 2011, Journal of Human Genetics.

A strong exonic splicing enhancer in dystrophin exon 19 achieve proper splicing without an upstream polypyrimidine tract.

Y. Takeshima, M. Matsuo, M. Yagi, 2008, Journal of biochemistry.

Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2006, Journal of Medical Genetics.

Antisense oligonucleotide induced dystrophin exon 45 skipping at a low half-maximal effective concentration in a cell-free splicing system.

Y. Takeshima, M. Matsuo, H. Awano, 2011, Nucleic acid therapeutics.

Early clinical signs and treatment of Menkes disease

H. Kodama, Y. Akasaka, M. Kubota, 2022, Molecular genetics and metabolism reports.

Chimeric RNA/ethylene-bridged nucleic acids promote dystrophin expression in myocytes of duchenne muscular dystrophy by inducing skipping of the nonsense mutation-encoding exon.

Y. Takeshima, M. Matsuo, M. Yagi, 2004, Human gene therapy.

Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy

Y. Takeshima, M. Matsuo, M. Yagi, 2003, Human Genetics.

Dystrophin Nonsense Mutations Can Generate Alternative Rescue Transcripts in Lymphocytes

Y. Takeshima, M. Matsuo, A. Nishiyama, 2008, Annals of human genetics.

Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy

Y. Takeshima, M. Matsuo, K. Saiki, 2007, BMC Medical Genetics.

Molecular characterization of the 5′-UTR of retinal dystrophin reveals a cryptic intron that regulates translational activity

Y. Takeshima, M. Matsuo, Noriyuki Nishimura, 2010, Molecular vision.

Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2007, Journal of Human Genetics.

Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts

M. Matsuo, M. Yagi, H. Terashi, 2004, Human Genetics.

Association of a vascular endothelial growth factor polymorphism with the development of bronchopulmonary dysplasia in Japanese premature newborns

Y. Takeshima, M. Yagi, K. Iijima, 2014, Scientific Reports.

Pericarditis-complicated takotsubo cardiomyopathy in a patient with rheumatoid arthritis.

M. Yamagishi, M. Yagi, K. Oe, 2018, Cardiovascular diagnosis and therapy.

Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2012, Journal of Human Genetics.

A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5

Y. Takeshima, M. Matsuo, M. Yagi, 2002, Journal of Human Genetics.

A G-to-T transversion at the splice acceptor site of dystrophin exon 14 shows multiple splicing outcomes that are not exemplified by transition mutations.

Y. Takeshima, M. Matsuo, H. Awano, 2012, Genetic testing and molecular biomarkers.

Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients

Y. Takeshima, M. Matsuo, H. Awano, 2013, Journal of Human Genetics.

- O -Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping Antisense oligonucleotide

Y. Takeshima, M. Matsuo, H. Awano, 2020 .

2′-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping

Y. Takeshima, M. Matsuo, H. Awano, 2017, Genes.

C-Terminal Truncated Dystrophin Identified in Skeletal Muscle of an Asymptomatic Boy with a Novel Nonsense Mutation of the Dystrophin Gene

Y. Takeshima, M. Matsuo, M. Yagi, 2004, Pediatric Research.

Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers

Y. Takeshima, M. Matsuo, H. Awano, 2012, BMC Genetics.

Treatment of Duchenne Muscular Dystrophy with Oligonucleotides against an Exonic Splicing Enhancer Sequence

Y. Takeshima, M. Matsuo, M. Yagi, 2003 .

A prostaglandin D2 metabolite is elevated in the urine of Duchenne muscular dystrophy patients and increases further from 8 years old.

Yasuhiro Takeshima, Taku Nakagawa, Yoshihiro Urade, 2013, Clinica chimica acta; international journal of clinical chemistry.

Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening

Y. Takeshima, H. Awano, M. Matsumoto, 2018, Pediatrics international : official journal of the Japan Pediatric Society.

Relationship between stature and tibial length for children with moderate-to-severe cerebral palsy

M. Yagi, Y. Kawasaki, S. Takada, 2015, Brain and Development.

Acute renal infarction complicated by a sentinel loop in a patient with atrial fibrillation

K. Hayashi, M. Yamagishi, M. Yagi, 2017 .

Small mutations detected by multiplex ligation-dependent probe amplification of the dystrophin gene.

Y. Takeshima, M. Matsuo, H. Awano, 2009, Genetic testing and molecular biomarkers.

Impact of real-time three-dimensional transesophageal echocardiography on procedural success for mitral valve repair

G. Watanabe, K. Hayashi, M. Yamagishi, 2015, Journal of Echocardiography.

Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2006, Human Genetics.

VEGF 936C>T is predictive of threshold retinopathy of prematurity in Japanese infants with a 30-week gestational age or less

M. Matsuo, A. Negi, T. Sakaeda, 2011 .

ASSOCIATION OF GENETIC POLYMORPHISMS WITH HEPATOTOXICITY IN PATIENTS WITH CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA OR LYMPHOMA

Y. Takeshima, M. Matsuo, T. Sakaeda, 2010, Pediatric hematology and oncology.

Design of 2'-O-Me RNA/ENA chimera oligonucleotides to induce exon skipping in dystrophin pre-mRNA.

Y. Takeshima, M. Matsuo, M. Yagi, 2004, Nucleic acids symposium series.

Coexistence of multiple congenital anomalies: quadricuspid pulmonary valve, infundibular pulmonary stenosis, coronary artery anomaly, biventricular hypertrophy, and short stature

M. Yamagishi, M. Yagi, M. Takamura, 2020 .

A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.

Y. Takeshima, M. Matsuo, H. Awano, 2011, Molecular genetics and metabolism.

P4.03 Mutation spectrum of the dystrophin gene in 456 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

Y. Takeshima, M. Matsuo, H. Awano, 2010, Neuromuscular Disorders.

Standard values for the urine HVA/VMA ratio in neonates as a screen for Menkes disease

Y. Takeshima, H. Kodama, M. Yagi, 2015, Brain and Development.

Childhood‐onset hereditary pancreatitis with mutations in the CT gene and SPINK1 gene

A. Masamune, Y. Takeshima, K. Kume, 2013, Pediatrics International.

Rapid progression of neuromuscular disorder related cardiomyopathy in a young patient.

K. Hirata, Y. Takeshima, S. Kawano, 2013, Internal medicine.