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Mariko Yagi

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
2010 · Yasuhiro Takeshima, Mariko Yagi, et al. · Journal of Human Genetics · 250
Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma
2006 · Hiroyuki Imanishi, Noboru Okamura, et al. · Journal of Human Genetics · 115
Intravenous Infusion of an Antisense Oligonucleotide Results in Exon Skipping in Muscle Dystrophin mRNA of Duchenne Muscular Dystrophy
2006 · Yasuhiro Takeshima, Mariko Yagi, et al. · Pediatric Research · 106
Chemical treatment enhances skipping of a mutated exon in the dystrophin gene
2011 · Atsushi Nishida, Naoyuki Kataoka, et al. · Nature Communications · 98
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Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient
2001 · Yasuhiro Takeshima, Hiroko Wada, et al. · Brain and Development · 80
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
2005 · Hoai Thu Thi Tran, Yasuhiro Takeshima, et al. · Molecular Genetics and Metabolism · 68
Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients
2013 · Tomoko Lee, Yasuhiro Takeshima, et al. · Journal of Human Genetics · 66
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A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4
2010 · Ery Kus Dwianingsih, Yasuhiro Takeshima, et al. · Molecular Genetics and Metabolism · 57
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Chimeric RNA/Ethylene-Bridged Nucleic Acids Promote Dystrophin Expression in Myocytes of Duchenne Muscular Dystrophy by Inducing Skipping of the Nonsense Mutation-Encoding Exon
2004 · Agus Surono, Tran Van Khanh, et al. · Human Gene Therapy · 57
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
2012 · Thi Hoai Thu Tran, Zhujun Zhang, et al. · Journal of Human Genetics · 51
High Incidence of Electrocardiogram Abnormalities in Young Patients With Duchenne Muscular Dystrophy
2008 · Yuichi Takami, Yasuhiro Takeshima, et al. · Pediatric Neurology · 49
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.
2007 · Wakako Ogino, Yasuhiro Takeshima, et al. · PubMed · 40
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A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy
2014 · Ery Kus Dwianingsih, Rusdy Ghazali Malueka, et al. · Journal of Human Genetics · 39
A prostaglandin D2 metabolite is elevated in the urine of Duchenne muscular dystrophy patients and increases further from 8years old
2013 · Taku Nakagawa, Atsuko Takeuchi, et al. · Clinica Chimica Acta · 38
Early clinical signs and treatment of Menkes disease
2022 · Chie Fujisawa, Hiroko Kodama, et al. · Molecular Genetics and Metabolism Reports · 37
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Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene
2006 · Van Khanh Tran, Yasuhiro Takeshima, et al. · Journal of Medical Genetics · 36
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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
2004 · Mariko Yagi, Yasuhiro Takeshima, et al. · Oligonucleotides · 36
2′-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping
2017 · Tomoko Lee, Hiroyuki Awano, et al. · Genes · 33
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Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy
2006 · Yoshinori Katayama, Van Khanh Tran, et al. · Human Genetics · 33
Association of a vascular endothelial growth factor polymorphism with the development of bronchopulmonary dysplasia in Japanese premature newborns
2014 · Kazumichi Fujioka, Akio Shibata, et al. · Scientific Reports · 30
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Effect of CPS14217C>A genotype on valproic‐acid‐induced hyperammonemia
2010 · Mariko Yagi, Tsutomu Nakamura, et al. · Pediatrics International · 30
A novel cryptic exon identified in the 3′ region of intron 2 of the human dystrophin gene
2005 · Van Khanh Tran, Zhujun Zhang, et al. · Journal of Human Genetics · 26
Utility of Transmural Myocardial Strain Profile for Prediction of Early Left Ventricular Dysfunction in Patients With Duchenne Muscular Dystrophy
2012 · Tetsushi Yamamoto, Hidekazu Tanaka, et al. · The American Journal of Cardiology · 25
Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons
2007 · Zhujun Zhang, Yasuaki Habara, et al. · Journal of Human Genetics · 24
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
2003 · Mariko Yagi, Yasuhiro Takeshima, et al. · Human Genetics · 24
Works count: 75
Citation count: 1,946
H-index: 24
I10-index: 49
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