FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Yasuhiro Takeshima

Research Profile

Chemicals & Drugs

Disorders

Physiology

Procedures

Co-author Network

Publications

TOP 3
Tri Budi Hartomo; Daiichiro Hasegawa; Akira Hayakawa; Satoshi Hirase; Kazumoto Iijima; Toshiaki Ishida; Keiichiro Kawasaki; Yoshiyuki Kosaka; Aiko Kozaki; Ikuko Kubokawa; Masafumi Matsuo; Takeshi Mori; Satoru Morikawa; Hisahide Nishio; Hiroki Ohashi; Atsuro Saitoh; Yasuhiro Takeshima; Nobuyuki Yamamoto; Tomoto Yamamoto; Tomoko Yanai; Thi Van Huyen Pham; Noriyuki Nishimura
Minimal residual disease monitoring in neuroblastoma patients based on the expression of a set of real-time RT-PCR markers in tumor-initiating cells.
Tetsushi Yamamoto; Hiroyuki Awano; Nobuhide Hayashi; Takamitsu Imanishi; Hiroya Kawai; Seiji Kawano; Tomoko Lee; Kensuke Matsumoto; Yasuhiro Takeshima; Hidekazu Tanaka; Mariko Yagi; Ken-Ichi Hirata
Utility of transmural myocardial strain profile for prediction of early left ventricular dysfunction in patients with Duchenne muscular dystrophy.
Tomoko Lee; Masafumi Matsuo; Yo Okizuka; Norio Sakai; Yasuhiro Takeshima; Mariko Yagi; Hiroyuki Awano; Kiyoshi Hamahira; Noriko Kusunoki; Kazumoto Iijima
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Yasuhiro Takeshima (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Tri Budi Hartomo; Daiichiro Hasegawa; Akira Hayakawa; Satoshi Hirase; Kazumoto Iijima; Toshiaki Ishida; Keiichiro Kawasaki; Yoshiyuki Kosaka; Aiko Kozaki; Ikuko Kubokawa; Masafumi Matsuo; Takeshi Mori; Satoru Morikawa; Hisahide Nishio; Hiroki Ohashi; Atsuro Saitoh; Yasuhiro Takeshima; Nobuyuki Yamamoto; Tomoto Yamamoto; Tomoko Yanai; Thi Van Huyen Pham; Noriyuki Nishimura
Minimal residual disease monitoring in neuroblastoma patients based on the expression of a set of real-time RT-PCR markers in tumor-initiating cells.
Oncology reports 2013;29(4):1629-36.
2013: Tetsushi Yamamoto; Hiroyuki Awano; Nobuhide Hayashi; Takamitsu Imanishi; Hiroya Kawai; Seiji Kawano; Tomoko Lee; Kensuke Matsumoto; Yasuhiro Takeshima; Hidekazu Tanaka; Mariko Yagi; Ken-Ichi Hirata
Utility of transmural myocardial strain profile for prediction of early left ventricular dysfunction in patients with Duchenne muscular dystrophy.
The American journal of cardiology 2013;111(6):902-7.
2013: Tomoko Lee; Masafumi Matsuo; Yo Okizuka; Norio Sakai; Yasuhiro Takeshima; Mariko Yagi; Hiroyuki Awano; Kiyoshi Hamahira; Noriko Kusunoki; Kazumoto Iijima
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.
Gene 2013;512(2):456-9.
2013: Thi Hoai Thu Tran; Hiroyuki Awano; Tomoko Lee; Atsushi Nishida; Takeshi Okinaga; Yasuhiro Takeshima; Mariko Yagi; Zhujun Zhang; Masafumi Matsuo
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.
Journal of human genetics 2013;58(1):33-9.
2012: Taku Nakagawa; Hisahide Nishio; Eiichi Ono; Yasuhiro Takeshima; Surini Yusoff; Indra Sari Kusuma Harahap; Satoru Morikawa; Ichiro Morioka; Takeo Mure; Masafumi Matsuo
Acetaminophen administration in a patient with Gilbert's syndrome.
Pediatrics international : official journal of the Japan Pediatric Society 2012;54(6):934-6.
2012: Dian K Nurputra; Toshiyuki Sakaeda; Yutaka Takaoka; Yasuhiro Takeshima; Indra S K Harahap; Poh San Lai; Masafumi Matsuo; Satoru Morikawa; Taku Nakagawa; Hisahide Nishio
Paramyotonia congenita: from clinical diagnosis to in silico protein modeling analysis.
Pediatrics international : official journal of the Japan Pediatric Society 2012;54(5):602-12.
2012: Thi Van Huyen Pham; Yasuhiro Takeshima; Nobuyuki Yamamoto; Tomoto Yamamoto; Tomoko Yanai; Hisahide Nishio; Tri Budi Hartomo; Daiichiro Hasegawa; Akira Hayakawa; Kazumoto Iijima; Toshiaki Ishida; Keiichiro Kawasaki; Yoshiyuki Kosaka; Ikuko Kubokawa; Myeong Jin Lee; Masafumi Matsuo; Takeshi Mori; Satoru Morikawa; Noriyuki Nishimura
Rab15 alternative splicing is altered in spheres of neuroblastoma cells.
Oncology reports 2012;27(6):2045-9.
2012: Tetsushi Yamamoto; Nobuhide Hayashi; Ken-Ichi Hirata; Hiroya Kawai; Seiji Kawano; Masafumi Matsuo; Tetsuari Onishi; Daisuke Sugiyama; Yasuhiro Takeshima; Shunichi Kumagai
Predicting scores for left ventricular dysfunction in Duchenne muscular dystrophy.
Pediatrics international : official journal of the Japan Pediatric Society 2012;54(3):388-92.
2012: Noriyuki Nishimura; Thi Van Huyen Pham; Hiroki Takeda; Yasuhiro Takeshima; Nobuyuki Yamamoto; Tomoto Yamamoto; Tomoko Yanai; Tri Budi Hartomo; Daiichiro Hasegawa; Akira Hayakawa; Kazumoto Iijima; Keiichiro Kawasaki; Yoshiyuki Kosaka; Ikuko Kubokawa; Myeong Jin Lee; Masafumi Matsuo; Takeshi Mori; Satoru Morikawa; Hisahide Nishio
Epigallocatechin gallate inhibits sphere formation of neuroblastoma BE(2)-C cells.
Environmental health and preventive medicine 2012;17(3):246-51.
2012: Tomoko Yanai; Akira Hayakawa; Satoshi Hirase; Kazumoto Iijima; Ikuko Kubokawa; Natsuki Matsunoshita; Takeshi Mori; Takeshi Ninchoji; Yasuhiro Takeshima; Nobuyuki Yamamoto; Masafumi Matsuo
Place of death of pediatric cancer patients in a single institute during 7 years.
The Kobe journal of medical sciences 2012;58(2):E33-40.
2012: Rusdy Ghazali Malueka; Hiroyuki Awano; Ery Kus Dwianingsih; Tomoko Lee; Atsushi Nishida; Yutaka Takaoka; Yasuhiro Takeshima; Mariko Yagi; Masafumi Matsuo
Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers.
BMC genetics 2012;13():23.
2012: Yasuhiro Takeshima; Mariko Yagi; Masafumi Matsuo
Optimizing RNA/ENA chimeric antisense oligonucleotides using in vitro splicing.
Methods in molecular biology (Clifton, N.J.) 2012;867():131-41.
2012: Mitsunori Ota; Yasuhiro Takeshima; Mariko Yagi; Hiroyuki Awano; Tomoko Lee; Atsushi Nishida; Masafumi Matsuo
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.
Genetic testing and molecular biomarkers 2012;16(1):3-8.
2011: Mariko Yagi; Seiji Yamaguchi; Go Tajima; Yasuhiro Takeshima; Masahiro Tsuji; Hiroyuki Awano; Yuki Hasegawa; Hironori Kobayashi; Tomoko Lee; Masafumi Matsuo
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.
Molecular genetics and metabolism 2011;104(4):556-9.
2011: Rusdy Ghazali Malueka; Hiroyuki Awano; Ery Kus Dwianingsih; Tomoko Lee; Atsushi Nishida; Yasuhiro Takeshima; Mariko Yagi; Masafumi Matsuo
Antisense oligonucleotide induced dystrophin exon 45 skipping at a low half-maximal effective concentration in a cell-free splicing system.
Nucleic acid therapeutics 2011;21(5):347-53.
2011: Abdul Qawee Rani; A B Razak Salmi; Teguh Haryo Sasongko; Yasuhiro Takeshima; Mariko Yagi; Z A M H Zabidi-Hussin; Bin Alwi Zilfalil; Hiroyuki Awano; Tomoko Lee; Rusdy Ghazali Malueka; Masafumi Matsuo
Two closely spaced nonsense mutations in the DMD gene in a Malaysian family.
Molecular genetics and metabolism 2011;103(3):303-4.
2011: Noriyuki Nishimura; Tri Budi Hartomo; Myeong Jin Lee; Daiichiro Hasegawa; Hiroki Takeda; Keiichiro Kawasaki; Yoshiyuki Kosaka; Tomoto Yamamoto; Satoru Morikawa; Nobuyuki Yamamoto; Ikuko Kubokawa; Takeshi Mori; Tomoko Yanai; Akira Hayakawa; Yasuhiro Takeshima; Hisahide Nishio; Thi Van Huyen Pham; Masafumi Matsuo
Rab15 expression correlates with retinoic acid-induced differentiation of neuroblastoma cells.
Oncology reports 2011;26(1):145-51.
2011: Yoshihiro Mitsuda; Takeshi Mori; Yasuhiro Takeshima; Tomoko Yanai; Akira Hayakawa; Masafumi Matsuo
Utility of multiplex PCR in detecting the causative pathogens for pediatric febrile neutropenia.
The Kobe journal of medical sciences 2011;57(2):E32-7.
2011: Atsushi Nishida; Naoyuki Kataoka; Yasuhiro Takeshima; Mariko Yagi; Hiroyuki Awano; Mitsunori Ota; Kyoko Itoh; Masatoshi Hagiwara; Masafumi Matsuo
Chemical treatment enhances skipping of a mutated exon in the dystrophin gene.
Nature communications 2011;2():308.
2010: Hiroyuki Awano; Rusdy Ghazali Malueka; Mariko Yagi; Yo Okizuka; Yasuhiro Takeshima; Masafumi Matsuo
Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA.
Journal of human genetics 2010;55(12):785-90.
2010: Ery Kus Dwianingsih; Yasuhiro Takeshima; Kyoko Itoh; Yumiko Yamauchi; Hiroyuki Awano; Rusdy Ghazali Malueka; Atsushi Nishida; Mitsunori Ota; Mariko Yagi; Masafumi Matsuo
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.
Molecular genetics and metabolism 2010;101(2-3):233-7.
2010: Takeshi Mori; Noriyuki Nishimura; Daiichiro Hasegawa; Keiichiro Kawasaki; Y Kosaka; Kazuko Uchide; Tomoko Yanai; Akira Hayakawa; Yasuhiro Takeshima; Hisahide Nishio; Masafumi Matsuo
Persistent detection of a novel MLL-SACM1L rearrangement in the absence of leukemia.
Leukemia research 2010;34(10):1398-401.
2010: Yasuhiro Takeshima; Mariko Yagi; Yo Okizuka; Hiroyuki Awano; Zhujun Zhang; Yumiko Yamauchi; Hisahide Nishio; Masafumi Matsuo
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
Journal of human genetics 2010;55(6):379-88.
2010: Ikuko Kubokawa; Yasuhiro Takeshima; Mitsunori Ota; Masahiro Enomoto; Yo Okizuka; Takeshi Mori; Noriyuki Nishimura; Hiroyuki Awano; Mariko Yagi; Masafumi Matsuo
Molecular characterization of the 5'-UTR of retinal dystrophin reveals a cryptic intron that regulates translational activity.
Molecular vision 2010;16():2590-7.
2010: Yo Okizuka; Yasuhiro Takeshima; Kyoko Itoh; Zhujun Zhang; Hiroyuki Awano; Koichi Maruyama; Toshiyuki Kumagai; Mariko Yagi; Masafumi Matsuo
Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD.
BMC medical genetics 2010;11():49.
2009: Atsushi Nishiyama; Mariko Yagi; Hiroyuki Awano; Yo Okizuka; Taro Maeda; Shinsaku Yoshida; Yasuhiro Takeshima; Masafumi Matsuo
Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations.
Pediatrics international : official journal of the Japan Pediatric Society 2009;51(6):775-9.
2009: Kandai Nozu; Kazumoto Iijima; Kazuo Kawai; Yoshimi Nozu; Atsushi Nishida; Yasuhiro Takeshima; Xue Jun Fu; Yuya Hashimura; Hiroshi Kaito; Koichi Nakanishi; Norishige Yoshikawa; Masafumi Matsuo
In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.
Human genetics 2009;126(4):533-8.
2009: Zhujun Zhang; Mariko Yagi; Yo Okizuka; Hiroyuki Awano; Yasuhiro Takeshima; Masafumi Matsuo
Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene.
Journal of human genetics 2009;54(8):466-73.
2009: Yasuaki Habara; Yasuhiro Takeshima; H Awano; Y Okizuka; Zhujun Zhang; Kayoko Saiki; Mariko Yagi; Masafumi Matsuo
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.
Journal of medical genetics 2009;46(8):542-7.
2009: Yo Okizuka; Yasuhiro Takeshima; Hiroyuki Awano; Zhujun Zhang; Mariko Yagi; Masafumi Matsuo
Small mutations detected by multiplex ligation-dependent probe amplification of the dystrophin gene.
Genetic testing and molecular biomarkers 2009;13(3):427-31.
2008: Yuichi Takami; Yasuhiro Takeshima; Hiroyuki Awano; Yoh Okizuka; Mariko Yagi; Masafumi Matsuo
High incidence of electrocardiogram abnormalities in young patients with duchenne muscular dystrophy.
Pediatric neurology 2008;39(6):399-403.
2008: Atsushi Nishiyama; Yasuhiro Takeshima; Zhujun Zhang; Yasuaki Habara; T H T Tran; Mariko Yagi; Masafumi Matsuo
Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.
Annals of human genetics 2008;72(Pt 6):717-24.
2008: Rafal Przybyslaw Krol; Kandai Nozu; Koichi Nakanishi; Kazumoto Iijima; Yasuhiro Takeshima; Xue Jun Fu; Yoshimi Nozu; Hiroshi Kaito; Kyoko Kanda; Masafumi Matsuo; Norishige Yoshikawa
Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2008;23(8):2525-30.
2008: Van Khanh Tran; Teguh Haryo Sasongko; Dang Diem Hong; Nguyen Thi Hoan; Vu Chi Dung; Myeong Jin Lee; Yasuhiro Takeshima; Masafumi Matsuo; Hisahide Nishio
SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy.
Pediatrics international : official journal of the Japan Pediatric Society 2008;50(3):346-51.
2008: Hiroyuki Awano; Yasuhiro Takeshima; Yo Okizuka; Kayoko Saiki; Mariko Yagi; Masafumi Matsuo
Wide ranges of serum myostatin concentrations in Duchenne muscular dystrophy patients.
Clinica chimica acta; international journal of clinical chemistry 2008;391(1-2):115-7.
2008: Yasuaki Habara; Mari Doshita; Sadako Hirozawa; Yuka Yokono; Mariko Yagi; Yasuhiro Takeshima; Masafumi Matsuo
A strong exonic splicing enhancer in dystrophin exon 19 achieve proper splicing without an upstream polypyrimidine tract.
Journal of biochemistry 2008;143(3):303-10.
2008: Zhujun Zhang; Yasuhiro Takeshima; Hiroyuki Awano; Atsushi Nishiyama; Yo Okizuka; Mariko Yagi; Masafumi Matsuo
Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy.
Journal of human genetics 2008;53(3):215-9.
2007: Wakako Ogino; Yasuhiro Takeshima; Takeshi Mori; Tomoko Yanai; Akira Hayakawa; Toshihiro Akisue; Masahiro Kurosaka; Masafumi Matsuo
High level of ezrin mRNA expression in an osteosarcoma biopsy sample with lung metastasis.
Journal of pediatric hematology/oncology 2007;29(7):435-9.
2007: Wakako Ogino; Yasuhiro Takeshima; Atsushi Nishiyama; Yo Okizuka; Mariko Yagi; Syuichi Tsuneishi; Kayoko Saiki; Masaaki Kugo; Masafumi Matsuo
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.
The Kobe journal of medical sciences 2007;53(5):229-40.
2007: Wakako Ogino; Yasuhiro Takeshima; Atsushi Nishiyama; Mariko Yagi; Nobutoshi Oka; Masafumi Matsuo
Mosaic tetrasomy 9p case with the phenotype mimicking Klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production.
The Kobe journal of medical sciences 2007;53(4):143-50.
2007: Zhujun Zhang; Yasuaki Habara; Atsushi Nishiyama; Yoshinobu Oyazato; Mariko Yagi; Yasuhiro Takeshima; Masafumi Matsuo
Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons.
Journal of human genetics 2007;52(7):607-17.
2007: Atsushi Nishiyama; Yasuhiro Takeshima; Kayoko Saiki; Akiko Narukage; Yoshinobu Oyazato; Mariko Yagi; Masafumi Matsuo
Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.
BMC medical genetics 2007;8():19.
2007: Hiroyuki Imanishi; Noboru Okamura; Mariko Yagi; Yukari Noro; Yuka Moriya; Tsutomu Nakamura; Akira Hayakawa; Yasuhiro Takeshima; Toshiyuki Sakaeda; Masafumi Matsuo; Katsuhiko Okumura
Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma.
Journal of human genetics 2007;52(2):166-71.
2007: Van Khanh Tran; Yasuhiro Takeshima; Zhujun Zhang; Yasuaki Habara; Kazuhiro Haginoya; Atsushi Nishiyama; Mariko Yagi; Masafumi Matsuo
A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient.
Human genetics 2007;120(5):737-42.
2006: Van Khanh Tran; Yasuhiro Takeshima; Zhujun Zhang; Mariko Yagi; Atsushi Nishiyama; Yasuaki Habara; Masafumi Matsuo
Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.
Journal of medical genetics 2006;43(12):924-30.
2006: Tomoko Yanai; Daiichiro Hasegawa; Yoshiyuki Kosaka; Hideo Misu; Osamu Mabuchi; Wakako Ogino; Akira Hayakawa; Keiichiro Kawasaki; Yasuhiro Takeshima; Masafumi Matsuo
Congenital cardiovascular malformations are complicated in neuroblastomas identified by mass screening but not by clinical examination in Japan.
The Journal of pediatrics 2006;149(1):145-6; author reply 146.
2006: Yoshinori Katayama; Van Khanh Tran; Nguyen Thi Hoan; Zhujun Zhang; Katsumi Goji; Mariko Yagi; Yasuhiro Takeshima; Kayoko Saiki; Nguyen Thu Nhan; Masafumi Matsuo
Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy.
Human genetics 2006;119(5):516-9.
2006: Yasuhiro Takeshima; Mariko Yagi; Hiroko Wada; Kazuto Ishibashi; Atsushi Nishiyama; Mikio Kakumoto; Toshiyuki Sakaeda; Ryuichi Saura; Katsuhiko Okumura; Masafumi Matsuo
Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy.
Pediatric research 2006;59(5):690-4.
2006: Kazuto Ishibashi; Yasuhiro Takeshima; Mariko Yagi; Atsushi Nishiyama; Masafumi Matsuo
Novel cryptic exons identified in introns 2 and 3 of the human dystrophin gene with duplication of exons 8-11.
The Kobe journal of medical sciences 2006;52(3-4):61-75.
2005: Yasuhiro Takeshima
[Molecular therapy for duchenne muscular dystrophy].
Nihon rinsho. Japanese journal of clinical medicine 2005;63 Suppl 12():626-31.
2005: Masafumi Matsuo; Yasuhiro Takeshima
Rescue of dystrophin mRNA of Duchenne muscular dystrophy by inducing exon skipping.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2005;24(2):110-4.
2005: Yasuhiro Takeshima; Mariko Yagi; Hiroko Wada; Masafumi Matsuo
Intraperitoneal administration of phosphorothioate antisense oligodeoxynucleotide against splicing enhancer sequence induced exon skipping in dystrophin mRNA expressed in mdx skeletal muscle.
Brain & development 2005;27(7):488-93.
2005: Hoai Thu Thi Tran; Yasuhiro Takeshima; Agus Surono; Mariko Yagi; Hiroko Wada; Masafumi Matsuo
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.
Molecular genetics and metabolism 2005;85(3):213-9.
2005: Van Khanh Tran; Zhujun Zhang; Mariko Yagi; Atsushi Nishiyama; Yasuaki Habara; Yasuhiro Takeshima; Masafumi Matsuo
A novel cryptic exon identified in the 3' region of intron 2 of the human dystrophin gene.
Journal of human genetics 2005;50(8):425-33.
2004: Ryo Suminaga; Yasuhiro Takeshima; Hiroko Wada; Mariko Yagi; Masafumi Matsuo
C-terminal truncated dystrophin identified in skeletal muscle of an asymptomatic boy with a novel nonsense mutation of the dystrophin gene.
Pediatric research 2004;56(5):739-43.
2004: Agus Surono; Tran Van Khanh; Yasuhiro Takeshima; Hiroko Wada; Mariko Yagi; Miho Takagi; Makoto Koizumi; Masafumi Matsuo
Chimeric RNA/ethylene-bridged nucleic acids promote dystrophin expression in myocytes of duchenne muscular dystrophy by inducing skipping of the nonsense mutation-encoding exon.
Human gene therapy 2004;15(8):749-57.
2004: Masafumi Matsuo; Yasuhiro Takeshima; Mariko Yagi; Kazuto Ishibashi; Hiroko Wada
[Treatment of Duchenne muscular dystrophy with gentamicin].
No to hattatsu. Brain and development 2004;36(2):125-9.
2004: Miho Takagi; Mariko Yagi; Kazuto Ishibashi; Yasuhiro Takeshima; Agus Surono; Masafumi Matsuo; Makoto Koizumi
Design of 2'-O-Me RNA/ENA chimera oligonucleotides to induce exon skipping in dystrophin pre-mRNA.
Nucleic acids symposium series (2004) 2004;(48):297-8.
2004: Mariko Yagi; Yasuhiro Takeshima; Agus Surono; Miho Takagi; Makoto Koizumi; Masafumi Matsuo
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.
Oligonucleotides 2004;14(1):33-40.
2003: Mohammad Saifur Rohman; Noriaki Emoto; Yasuhiro Takeshima; Mitsuhiro Yokoyama; Masafumi Matsuo
Decreased mAKAP, ryanodine receptor, and SERCA2a gene expression in mdx hearts.
Biochemical and biophysical research communications 2003;310(1):228-35.
2003: Toshiyuki Ito; Yasuhiro Takeshima; Mariko Yagi; S Kamei; Hiroko Wada; Hajime Nakamura; Masafumi Matsuo
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.
Journal of neurology 2003;250(5):581-7.
2003: Mariko Yagi; Yasuhiro Takeshima; Hiroko Wada; Hajime Nakamura; Masafumi Matsuo
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.
Human genetics 2003;112(2):164-70.
2003: Duc Bach Nguyen; Ahmad Hamim Sadewa; Yasuhiro Takeshima; Retno Sutomo; Van Khanh Tran; Thi Ngoc Dao Nguyen; Thi Hoan Nguyen; Chi Dung Vu; Diem Hong Dang; Yosuke Harada; Hisahide Nishio; Masafumi Matsuo
Deletion of the SMN1 and NAIP genes in Vietnamese patients with spinal muscular atrophy.
The Kobe journal of medical sciences 2003;49(3-4):55-8.
2003: Kayo Adachi; Yasuhiro Takeshima; Hiroko Wada; Mariko Yagi; Hajime Nakamura; Masafumi Matsuo
Heterogous dystrophin mRNA produced by a novel splice acceptor site mutation in intermediate dystrophinopathy.
Pediatric research 2003;53(1):125-31.
2002: Tran Van Khanh; Yasuhiro Takeshima; Yosuke Harada; Hisahide Nishio; Nguyen Thi Ngoc Dao; Nguyen Thi Hoan; Bui Phuong Thao; Masafumi Matsuo
Molecular genetic analyses of five Vietnamese patients with spinal muscular atrophy.
The Kobe journal of medical sciences 2002;48(5-6):177-82.
2002: Retno Sutomo; Tomoko Akutsu; Yasuhiro Takeshima; Hisahide Nishio; Ahmad Hamim Sadewa; Yosuke Harada; Masafumi Matsuo
Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy.
American journal of medical genetics 2002;113(2):225-6.
2002: Yosuke Harada; Retno Sutomo; Ahmad Hamim Sadewa; Tomoko Akutsu; Yasuhiro Takeshima; Hiroko Wada; Masafumi Matsuo; Hisahide Nishio
Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity.
Journal of neurology 2002;249(9):1211-9.
2002: Kayo Adachi; Mariko Yagi; Toshiyuki Ito; Yasuhiro Takeshima; Hisahide Nishio; Hiroko Wada; Hajime Nakamura; Masafumi Matsuo
[Dystrophin gene analysis on 76 families with dystrophinopathy].
No to hattatsu. Brain and development 2002;34(5):391-7.
2002: Tomoko Akutsu; Hisahide Nishio; Kimiaki Sumino; Yasuhiro Takeshima; Syuichi Tsuneishi; Hiroko Wada; Satoshi Takada; Masafumi Matsuo; Hajime Nakamura
Molecular genetics of spinal muscular atrophy: contribution of the NAIP gene to clinical severity.
The Kobe journal of medical sciences 2002;48(1-2):25-31.
2002: Ryo Suminaga; Yasuhiro Takeshima; Kayo Adachi; Mariko Yagi; Hajime Nakamura; Masafumi Matsuo
A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5.
Journal of human genetics 2002;47(4):196-201.
2001: Yasuhiro Takeshima; Hiroko Wada; Mariko Yagi; Y Ishikawa; Y Ishikawa; R Minami; Hajime Nakamura; Masafumi Matsuo
Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient.
Brain & development 2001;23(8):788-90.
2001: Toshiyuki Ito; Yasuhiro Takeshima; H Sakamoto; Hajime Nakamura; Masafumi Matsuo
Purine-rich exon sequences are not necessarily splicing enhancer sequence in the dystrophin gene.
The Kobe journal of medical sciences 2001;47(5):193-202.
2000: Tri Wibawa; Yasuhiro Takeshima; I Mitsuyoshi; Hiroko Wada; Agus Surono; Hajime Nakamura; Masafumi Matsuo
Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation.
Brain & development 2000;22(2):107-12.
2000: Z A Dwi Pramono; Yasuhiro Takeshima; Agus Surono; Tatsuro Ishida; Masafumi Matsuo
A novel cryptic exon in intron 2 of the human dystrophin gene evolved from an intron by acquiring consensus sequences for splicing at different stages of anthropoid evolution.
Biochemical and biophysical research communications 2000;267(1):321-8.
2000: Ryo Suminaga; Yasuhiro Takeshima; K Yasuda; Nobuyuki Shiga; Hajime Nakamura; Masafumi Matsuo
Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene: a novel source of genomic instability.
Journal of human genetics 2000;45(6):331-6.
1999: S Tamasu; Hisahide Nishio; Hitoshi Ayaki; Myeong Jin Lee; Masakazu Mizutori; Yasuhiro Takeshima; Hajime Nakamura; Masafumi Matsuo; Takeshi Maruo; Kimiaki Sumino
Prenatal diagnosis of a Japanese family at risk for Tay-Sachs disease. Application of a fluorescent competitive allele-specific polymerase chain reaction (PCR) method.
The Kobe journal of medical sciences 1999;45(6):259-70.
1999: S Waku; Yasuhiro Takeshima; H Nakamura; Hisahide Nishio; K Sumino
A variant TATA box in the bilirubin UDP-glucuronosyltransferase 1 gene promoter does not contribute to neonatal jaundice in the Japanese population.
Archives of disease in childhood. Fetal and neonatal edition 1999;81(2):F159.
1999: SY Patria; Yasuhiro Takeshima; Ryo Suminaga; Hajime Nakamura; R Iwasaki; T Minagawa; Masafumi Matsuo
A simple explanation for a case of incompatibility with the reading frame theory in Duchenne muscular dystrophy: failure to detect an aberrant restriction fragment in Southern blot analysis.
Brain & development 1999;21(6):386-9.
1999: Hisahide Nishio; H Horikawa; H Yakura; Kazuma Sugie; Takuya Nakamuro; Keiko Koterazawa; Y Ishikawa; Myeong Jin Lee; Hiroko Wada; Yasuhiro Takeshima; Masafumi Matsuo; Kimiaki Sumino
Hybrid survival motor neuron genes in Japanese patients with spinal muscular atrophy.
Acta neurologica Scandinavica 1999;99(6):374-80.
1999: Agus Surono; Yasuhiro Takeshima; Tri Wibawa; M Ikezawa; I Nonaka; Masafumi Matsuo
Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing.
Human molecular genetics 1999;8(3):493-500.
1999: D H Chen; Yasuhiro Takeshima; Y Ishikawa; Y Ishikawa; R Minami; Masafumi Matsuo
A novel deletion of the dystrophin S-promoter region cosegregating with mental retardation.
Neurology 1999;52(3):638-40.
1999: Hisahide Nishio; Y Ishikawa; Myeong Jin Lee; Yasuhiro Takeshima; Hiroko Wada; Satoshi Takada; Hajime Nakamura; Masafumi Matsuo; Kimiaki Sumino
High incidence of a survival motor neuron gene/cBCD541 gene ratio of 2 in Japanese parents of spinal muscular atrophy patients: a characteristic background of spinal muscular atrophy in Japan?
Journal of neurology 1999;246(1):48-52.
1998: Yasuhiro Takeshima
[Genetic diagnosis of Duchenne/Becker muscular dystrophy; clinical application and problems].
No to hattatsu. Brain and development 1998;30(2):141-7.
1998: H Yanagawa; Hisahide Nishio; Yasuhiro Takeshima; Kayoko Saiki; Hajime Nakamura; Masafumi Matsuo
Splicing error due to a splice acceptor site mutation in the ALD gene identified in a Japanese childhood cerebral adrenoleukodystrophy case.
The Kobe journal of medical sciences 1998;44(1):9-17.
1997: Yasuhiro Takeshima; Masafumi Matsuo
[Molecular genetics and problems found in genetic diagnosis of Duchenne Becker muscular dystrophy].
Nihon rinsho. Japanese journal of clinical medicine 1997;55(12):3120-5.
1997: Nobuyuki Shiga; Yasuhiro Takeshima; H Sakamoto; K Inoue; Y Yokota; Mitsuhiro Yokoyama; Masafumi Matsuo
Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.
The Journal of clinical investigation 1997;100(9):2204-10.
1997: Agus Surono; Yasuhiro Takeshima; Tri Wibawa; Z A Pramono; Masafumi Matsuo
Six novel transcripts that remove a huge intron ranging from 250 to 800 kb are produced by alternative splicing of the 5' region of the dystrophin gene in human skeletal muscle.
Biochemical and biophysical research communications 1997;239(3):895-9.
1997: Hisahide Nishio; Y Ishikawa; Myeong Jin Lee; M Fujii; Fumio Kanda; Kenji Jinnai; K Takahashi; Yasuhiro Takeshima; Hiroko Wada; Satoshi Takada; Hajime Nakamura; Masafumi Matsuo; Kimiaki Sumino
Decreased expression of full-length mRNA for cBCD541 does not correlate with spinal muscular atrophy phenotype severity.
Neurology 1997;48(5):1266-70.
1996: R K Pokharel; H Alimsardjono; Yasuhiro Takeshima; H Nakamura; K Naritomi; S Hirose; S Onishi; Masafumi Matsuo
Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene.
Biochemical and biophysical research communications 1996;227(1):236-9.
1996: Z A Pramono; Yasuhiro Takeshima; H Alimsardjono; A Ishii; S Takeda; Masafumi Matsuo
Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence.
Biochemical and biophysical research communications 1996;226(2):445-9.
1996: S Y Patria; H Alimsardjono; Hisahide Nishio; Yasuhiro Takeshima; H Nakamura; Masafumi Matsuo
A case of Becker muscular dystrophy resulting from the skipping of four contiguous exons (71-74) of the dystrophin gene during mRNA maturation.
Proceedings of the Association of American Physicians 1996;108(4):308-14.
1995: Yasuhiro Takeshima; Hisahide Nishio; H Sakamoto; H Nakamura; Masafumi Matsuo
Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe.
The Journal of clinical investigation 1995;95(2):515-20.
1994: Hisahide Nishio; Yasuhiro Takeshima; N Narita; H Yanagawa; Y Suzuki; Y Ishikawa; Y Ishikawa; R Minami; H Nakamura; Masafumi Matsuo
Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter.
The Journal of clinical investigation 1994;94(3):1037-42.
1994: Yasuhiro Takeshima; Hisahide Nishio; N Narita; Hiroko Wada; Y Ishikawa; Y Ishikawa; R Minami; H Nakamura; Masafumi Matsuo
Amino-terminal deletion of 53% of dystrophin results in an intermediate Duchenne-Becker muscular dystrophy phenotype.
Neurology 1994;44(9):1648-51.
1994: Y Hagiwara; Hisahide Nishio; Y Kitoh; Yasuhiro Takeshima; N Narita; Hiroko Wada; Mitsuhiro Yokoyama; H Nakamura; Masafumi Matsuo
A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy.
American journal of human genetics 1994;54(1):53-61.