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

Yasuhiro Takeshima, Mariko Yagi, Yo Okizuka, +5

Journal of Human Genetics

Rare DiseasesDystrophin GeneMendelian DisorderGenetic DisorderGenetics +7

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

Hiroyuki Imanishi, Noboru Okamura, Mariko Yagi, +8

Journal of Human Genetics

Hematological MalignancyAdverse EventsGenetic PolymorphismsMedicineMixed-phenotype Acute Leukemia +9

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

Yasuhiro Takeshima, Mariko Yagi, Hiroko Wada, +7

Pediatric Research

Exon SkippingAntisense Oligonucleotide ResultsSkeletal MuscleDuchenne Muscular DystrophyMedicine +7

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

Atsushi Nishida, Naoyuki Kataoka, Yasuhiro Takeshima, +6

Nature Communications

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

Yasuhiro Takeshima, Hiroko Wada, Mariko Yagi, +5

Brain and Development

Muscle CellsSkeletal MuscleNatural SciencesGeneticsOligonucleotide +8

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

Hoai Thu Thi Tran, Yasuhiro Takeshima, Agus Surono, +3

Molecular Genetics and Metabolism

Dystrophin GeneMolecular BiologyCell MotilityCytoskeletonIntracellular Trafficking +4

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

Tomoko Lee, Yasuhiro Takeshima, Noriko Kusunoki, +4

Journal of Human Genetics

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

Ery Kus Dwianingsih, Yasuhiro Takeshima, Kyoko Itoh, +7

Molecular Genetics and Metabolism

Serum Creatine KinaseGeneticsInherited Metabolic DiseasePediatricsPathology +5

Chimeric RNA/Ethylene-Bridged Nucleic Acids Promote Dystrophin Expression in Myocytes of Duchenne Muscular Dystrophy by Inducing Skipping of the Nonsense Mutation-Encoding Exon

Agus Surono, Trần Vân Khánh, Yasuhiro Takeshima, +5

Human Gene 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

Thi Hoai Thu Tran, Zhujun Zhang, Mariko Yagi, +6

Journal of Human Genetics

Molecular CharacterizationMendelian DisorderChromosomal InversionGenetic DisorderGenetics +6