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Masafumi Matsuo

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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TOP 3
Nozu Kandai; Iijima Kazumoto; Nozu Yoshimi; Ikegami Ei; Imai Takehide; Fu Xue Jun; Kaito Hiroshi; Nakanishi Koichi; Yoshikawa Norishige; Matsuo Masafumi
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome.
Nozu Kandai; Iijima Kazumoto; Kawai Kazuo; Nozu Yoshimi; Nishida Atsushi; Takeshima Yasuhiro; Fu Xue Jun; Hashimura Yuya; Kaito Hiroshi; Nakanishi Koichi; Yoshikawa Norishige; Matsuo Masafumi
In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.
Zhang Zhujun; Yagi Mariko; Okizuka Yo; Awano Hiroyuki; Takeshima Yasuhiro; Matsuo Masafumi
Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene.

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All Publications

2009: Nozu Kandai; Iijima Kazumoto; Nozu Yoshimi; Ikegami Ei; Imai Takehide; Fu Xue Jun; Kaito Hiroshi; Nakanishi Koichi; Yoshikawa Norishige; Matsuo Masafumi
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome.
Pediatric research 2009;66(5):590-3.
2009: Nozu Kandai; Iijima Kazumoto; Kawai Kazuo; Nozu Yoshimi; Nishida Atsushi; Takeshima Yasuhiro; Fu Xue Jun; Hashimura Yuya; Kaito Hiroshi; Nakanishi Koichi; Yoshikawa Norishige; Matsuo Masafumi
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: Zhang Zhujun; Yagi Mariko; Okizuka Yo; Awano Hiroyuki; Takeshima Yasuhiro; Matsuo Masafumi
Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene.
Journal of human genetics 2009;54(8):466-73.
2009: Habara Y; Takeshima Y; Awano H; Okizuka Y; Zhang Z; Saiki K; Yagi M; Matsuo M
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: Okizuka Yo; Takeshima Yasuhiro; Awano Hiroyuki; Zhang Zhujun; Yagi Mariko; Matsuo Masafumi
Small mutations detected by multiplex ligation-dependent probe amplification of the dystrophin gene.
Genetic testing and molecular biomarkers 2009;13(3):427-31.
2009: Goji Katsumi; Teraoka Yoshie; Hosokawa Yuki; Okuno Misako; Ozaki Kayo; Yoshida Makiko; Matsuo Masafumi
Gonadotropin-independent precocious puberty associated with a somatic activating mutation of the LH receptor gene: detection of a mutation present in only a small fraction of cells from testicular tissue using wild-type blocking polymerase chain reaction and laser-capture microdissection.
Endocrine 2009;35(3):397-401.
2009: Hashimura Yuya; Nozu Kandai; Kanegane Hirokazu; Miyawaki Toshio; Hayakawa Akira; Yoshikawa Norishige; Nakanishi Koichi; Takemoto Minoru; Iijima Kazumoto; Matsuo Masafumi
Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Pediatric nephrology (Berlin, Germany) 2009;24(6):1181-6.
2009: Shibata Akio; Morioka Ichiro; Ashi Chitose; Nagasaki Shizu; Tode Chisato; Morikawa Satoru; Miwa Akihiro; Enomoto Masahiro; Saiki Kayoko; Yokoyama Naoki; Takeuchi Atsuko; Matsuo Masafumi
Identification of N-acetyl Proline-Glycine-Proline (acPGP) in human serum of adults and newborns by liquid chromatography-tandem mass spectrometry.
Clinica chimica acta; international journal of clinical chemistry 2009;402(1-2):124-8.
2009: Gunadi; Miura Kenji; Ohta Mika; Sugano Aki; Lee Myeong Jin; Sato Yumi; Matsunaga Akiko; Hayashi Kazuhiro; Horikawa Tatsuya; Miki Kazunori; Wataya-Kaneda Mari; Katayama Ichiro; Nishigori Chikako; Matsuo Masafumi; Takaoka Yutaka; Nishio Hisahide
Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.
Pediatric research 2009;65(4):453-7.
2009: Matsuo Masafumi
[Frontline studies on Duchenne muscular dystrophy treatment]
No to hattatsu. Brain and development 2009;41(2):92-5.
2009: Irimura Sanae; Kitamura Keiko; Kato Nozomu; Saiki Kayoko; Takeuchi Atsuko; Gunadi; Matsuo Masafumi; Nishio Hisahide; Lee Myeong Jin
HnRNP C1/C2 may regulate exon 7 splicing in the spinal muscular atrophy gene SMN1.
The Kobe journal of medical sciences 2009;54(5):E227-36.
2009: Enomoto Masahiro; Morioka Ichiro; Morisawa Takeshi; Yokoyama Naoki; Matsuo Masafumi
A novel diagnostic tool for detecting neonatal infections using multiplex polymerase chain reaction.
Neonatology 2009;96(2):102-8.
2008: Takami Yuichi; Takeshima Yasuhiro; Awano Hiroyuki; Okizuka Yoh; Yagi Mariko; Matsuo Masafumi
High incidence of electrocardiogram abnormalities in young patients with duchenne muscular dystrophy.
Pediatric neurology 2008;39(6):399-403.
2008: Nishiyama A; Takeshima Y; Zhang Z; Habara Y; Tran T H T; Yagi M; Matsuo M
Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.
Annals of human genetics 2008;72(Pt 6):717-24.
2008: Nozu Kandai; Przybyslaw Krol Rafal; Ohtsuka Yasufumi; Nakanishi Koichi; Yoshikawa Norishige; Nozu Yoshimi; Kaito Hiroshi; Kanda Kyoko; Hashimura Yuya; Hamasaki Yuhei; Iijima Kazumoto; Matsuo Masafumi
Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients.
Pediatric nephrology (Berlin, Germany) 2008;23(11):2085-90.
2008: Kamioka Ichiro; Yoshiya Kunihiko; Satomura Kenichi; Kaito Hiroshi; Fujita Teruo; Iijima Kazumoto; Nakanishi Koichi; Yoshikawa Norishige; Nozu Kandai; Matsuo Masafumi;
Risk factors for developing severe clinical course in HUS patients: a national survey in Japan.
Pediatrics international : official journal of the Japan Pediatric Society 2008;50(4):441-6.
2008: Krol Rafal Przybyslaw; Nozu Kandai; Nakanishi Koichi; Iijima Kazumoto; Takeshima Yasuhiro; Fu Xue Jun; Nozu Yoshimi; Kaito Hiroshi; Kanda Kyoko; Matsuo Masafumi; Yoshikawa Norishige
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: Tran Van Khanh; Sasongko Teguh Haryo; Hong Dang Diem; Hoan Nguyen Thi; Dung Vu Chi; Lee Myeong Jin; Gunadi; Takeshima Yasuhiro; Matsuo Masafumi; Nishio Hisahide
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: Silao Catherine Lynn T; Padilla Carmencita D; Matsuo Masafumi
Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.
Pediatrics international : official journal of the Japan Pediatric Society 2008;50(3):312-4.
2008: Iida Keiji; Nozu Kandai; Takahashi Yutaka; Okimura Yasuhiko; Kaji Hidesuke; Matsuo Masafumi; Chihara Kazuo
Characterization of a splicing abnormality in Gitelman syndrome.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2008;51(6):1077-8.
2008: Awano Hiroyuki; Takeshima Yasuhiro; Okizuka Yo; Saiki Kayoko; Yagi Mariko; Matsuo Masafumi
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: Sadewa Ahmad H; Sasongko Teguh H; Lee Myeong J; Daikoku Kazunari; Yamamoto Akiyo; Yamasaki Takemi; Tanaka Shigenori; Matsuo Masafumi; Nishio Hisahide
Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion.
Pediatrics international : official journal of the Japan Pediatric Society 2008;50(2):167-71.
2008: Nozu K; Inagaki T; Fu X J; Nozu Y; Kaito H; Kanda K; Sekine T; Igarashi T; Nakanishi K; Yoshikawa N; Iijima K; Matsuo M
Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness.
Journal of medical genetics 2008;45(3):182-6.
2008: Sasongko T H; Yusoff S; Lee M J; Nishioka E; Matsuo M; Nishio H
Hypomutability at the polyadenine tract in SMN intron 3 shows the invariability of the a-SMN protein structure.
Annals of human genetics 2008;72(Pt 2):288-91.
2008: Habara Yasuaki; Doshita Mari; Hirozawa Sadako; Yokono Yuka; Yagi Mariko; Takeshima Yasuhiro; Matsuo Masafumi
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: Sasongko Teguh Haryo; Wataya-Kaneda Mari; Koterazawa Keiko; Gunadi; Yusoff Surini; Harahap Indra Sari Kusuma; Lee Myeong Jin; Matsuo Masafumi; Nishio Hisahide
Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14.
The Kobe journal of medical sciences 2008;54(1):E73-81.
2008: Zhang Zhujun; Takeshima Yasuhiro; Awano Hiroyuki; Nishiyama Atsushi; Okizuka Yo; Yagi Mariko; Matsuo Masafumi
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: Nakamura Tsutomu; Nozu Kandai; Iijima Kazumoto; Yoshikawa Norishige; Moriya Yuka; Yamamori Motohiro; Kako Asae; Matsuo Masafumi; Sakurai Aki; Okamura Noboru; Ishikawa Toshihisa; Okumura Katsuhiko; Sakaeda Toshiyuki
Association of cumulative cyclosporine dose with its irreversible nephrotoxicity in Japanese patients with pediatric-onset autoimmune diseases.
Biological & pharmaceutical bulletin 2007;30(12):2371-5.
2007: Shirakawa Toshiro; Terao Shuji; Hinata Nobuyuki; Tanaka Kazushi; Takenaka Atsushi; Hara Isao; Sugimura Kazuro; Matsuo Masafumi; Hamada Katsuyuki; Fuji Kohzo; Okegawa Takatsugu; Higashihara Eiji; Gardner Thomas A; Kao Chinghai; Chung Leland W K; Kamidono Sadao; Fujisawa Masato; Gotoh Akinobu
Long-term outcome of phase I/II clinical trial of Ad-OC-TK/VAL gene therapy for hormone-refractory metastatic prostate cancer.
Human gene therapy 2007;18(12):1225-32.
2007: Fujita Teruo; Nozu Kandai; Iijima Kazumoto; Kamioka Ichiro; Kaito Hiroshi; Tanaka Ryojiro; Nakanishi Koichi; Matsuo Masafumi; Yoshikawa Norishige
Long-term follow-up of juvenile acute nonproliferative glomerulitis (JANG).
Pediatric nephrology (Berlin, Germany) 2007;22(11):1957-61.
2007: Takatera Akihiro; Takeuchi Atsuko; Saiki Kayoko; Morioka Ichiro; Yokoyama Naoki; Matsuo Masafumi
Blood lysophosphatidylcholine (LPC) levels and characteristic molecular species in neonates: prolonged low blood LPC levels in very low birth weight infants.
Pediatric research 2007;62(4):477-82.
2007: Nozu Kandai; Fu Xue Jun; Nakanishi Koichi; Yoshikawa Norishige; Kaito Hiroshi; Kanda Kyoko; Krol Rafal Przybyslaw; Miyashita Ritsuko; Kamitsuji Hidekazu; Kanda Shoichiro; Hayashi Yoshiki; Satomura Kenichi; Shimizu Nobuhiko; Iijima Kazumoto; Matsuo Masafumi
Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR.
Pediatric research 2007;62(3):364-9.
2007: Nozu Kandai; Fu Xue Jun; Kaito Hiroshi; Kanda Kyoko; Yokoyama Naoki; Przybyslaw Krol Rafal; Nakajima Toshihiro; Kajiyama Mizutaka; Iijima Kazumoto; Matsuo Masafumi
A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism.
Pediatric nephrology (Berlin, Germany) 2007;22(8):1219-23.
2007: Ogino Wakako; Takeshima Yasuhiro; Mori Takeshi; Yanai Tomoko; Hayakawa Akira; Akisue Toshihiro; Kurosaka Masahiro; Matsuo Masafumi
High level of ezrin mRNA expression in an osteosarcoma biopsy sample with lung metastasis.
Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology 2007;29(7):435-9.
2007: Sekine Takashi; Nozu Kandai; Iyengar Rashmi; Fu Xue Jun; Matsuo Masafumi; Tanaka Ryojiro; Iijima Kazumoto; Matsui Emiko; Harita Yutaka; Inatomi Jun; Igarashi Takashi
OCRL1 mutations in patients with Dent disease phenotype in Japan.
Pediatric nephrology (Berlin, Germany) 2007;22(7):975-80.
2007: Kotani Tomohiro; Sutomo Retno; Sasongko Teguh Haryo; Sadewa Ahmad Hamim; Gunadi; Minato Toshinori; Fujii Emiko; Endo Shoichi; Lee Myeong Jin; Ayaki Hitoshi; Harada Yosuke; Matsuo Masafumi; Nishio Hisahide
A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins.
Journal of neurology 2007;254(5):624-30.
2007: Kamioka Ichiro; Nozu Kandai; Fujita Teruo; Kaito Hiroshi; Tanaka Ryojiro; Yoshiya Kunihiko; Iijima Kazumoto; Nakanishi Koichi; Yoshikawa Norishige; Matsuo Masafumi
Prognosis and pathological characteristics of five children with non-Shiga toxin-mediated hemolytic uremic syndrome.
Pediatrics international : official journal of the Japan Pediatric Society 2007;49(2):196-201.
2007: Kaito Hiroshi; Nozu Kandai; Fu Xue J; Kamioka Ichiro; Fujita Teruo; Kanda Kyoko; Krol Rafal P; Suminaga Ryo; Ishida Akihito; Iijima Kazumoto; Matsuo Masafumi
Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome.
Pediatric research 2007;61(4):502-5.
2007: Watihayati Mohd S; Zabidi-Hussin Azhar M H; Tang Thean H; Matsuo Masafumi; Nishio Hisahide; Zilfalil Bin Alwi
Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients.
Pediatrics international : official journal of the Japan Pediatric Society 2007;49(1):11-4.
2007: Sadewa Ahmad Hamim; Harada Yosuke; Sasongko Teguh Haryo; Matsuo Masafumi; Nishio Hisahide
C117T variant in the SMN1 gene found in the Japanese population.
Pediatrics international : official journal of the Japan Pediatric Society 2007;49(1):8-10.
2007: Tran Van Khanh; Takeshima Yasuhiro; Zhang Zhujun; Habara Yasuaki; Haginoya Kazuhiro; Nishiyama Atsushi; Yagi Mariko; Matsuo Masafumi
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.
2007: Egawa Tsuyoshi; Morioka Ichiro; Morisawa Takeshi; Yokoyama Naoki; Nakao Hideto; Ohashi Masanobu; Matsuo Masafumi
Ureaplasma urealyticum and Mycoplasma hominis presence in umbilical cord is associated with pathogenesis of funisitis.
The Kobe journal of medical sciences 2007;53(5):241-9.
2007: Ogino Wakako; Takeshima Yasuhiro; Nishiyama Atsushi; Okizuka Yo; Yagi Mariko; Tsuneishi Shuichi; Saiki Kayoko; Kugo Masaaki; Matsuo Masafumi
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: Ogino Wakako; Takeshima Yasuhiro; Nishiyama Atsushi; Yagi Mariko; Oka Nobutoshi; Matsuo Masafumi
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: Zhang Zhujun; Habara Yasuaki; Nishiyama Atsushi; Oyazato Yoshinobu; Yagi Mariko; Takeshima Yasuhiro; Matsuo Masafumi
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: Nishiyama Atsushi; Takeshima Yasuhiro; Saiki Kayoko; Narukage Akiko; Oyazato Yoshinobu; Yagi Mariko; Matsuo Masafumi
Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.
BMC medical genetics 2007;8():19.
2007: Imanishi Hiroyuki; Okamura Noboru; Yagi Mariko; Noro Yukari; Moriya Yuka; Nakamura Tsutomu; Hayakawa Akira; Takeshima Yasuhiro; Sakaeda Toshiyuki; Matsuo Masafumi; Okumura Katsuhiko
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.
2006: Kaito Hiroshi; Nozu Kandai; Iijima Kazumoto; Nakanishi Koichi; Yoshiya Kunihiko; Kanda Kyoko; Przybyslaw Krol Rafal; Yoshikawa Norishige; Matsuo Masafumi
The effect of aldosterone blockade in patients with Alport syndrome.
Pediatric nephrology (Berlin, Germany) 2006;21(12):1824-9.
2006: Tran Van Khanh; Takeshima Yasuhiro; Zhang Zhujun; Yagi Mariko; Nishiyama Atsushi; Habara Yasuaki; Matsuo Masafumi
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: Fu Xue Jun; Nozu Kandai; Goji Katsumi; Ikeda Kazushige; Kamioka Ichiro; Fujita Teruo; Kaito Hiroshi; Nishio Hisahide; Iijima Kazumoto; Matsuo Masafumi
Enamel-renal syndrome associated with hypokalaemic metabolic alkalosis and impaired renal concentration: a novel syndrome?
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2006;21(10):2959-62.
2006: Yanai Tomoko; Hasegawa Daiichiro; Kosaka Yoshiyuki; Misu Hideo; Mabuchi Osamu; Ogino Wakako; Hayakawa Akira; Kawasaki Keiichiro; Takeshima Yasuhiro; Matsuo Masafumi
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: Takatera Akihiro; Takeuchi Atsuko; Saiki Kayoko; Morisawa Takeshi; Yokoyama Naoki; Matsuo Masafumi
Quantification of lysophosphatidylcholines and phosphatidylcholines using liquid chromatography-tandem mass spectrometry in neonatal serum.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2006;838(1):31-6.
2006: Katayama Yoshinori; Tran Van Khanh; Hoan Nguyen Thi; Zhang Zhujun; Goji Katsumi; Yagi Mariko; Takeshima Yasuhiro; Saiki Kayoko; Nhan Nguyen Thu; Matsuo Masafumi
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: Wada Keiko; Takeuchi Atsuko; Saiki Kayoko; Sutomo Retno; Van Rostenberghe Hans; Yusoff Narazah Mohd; Laosombat Vichai; Sadewa Ahmad Hamim; Talib Norlelawati Abdul; Yusoff Surini; Lee Myeong Jin; Ayaki Hitoshi; Nakamura Hajime; Matsuo Masafumi; Nishio Hisahide
Evaluation of mutation effects on UGT1A1 activity toward 17beta-estradiol using liquid chromatography-tandem mass spectrometry.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2006;838(1):9-14.
2006: Takeshima Yasuhiro; Yagi Mariko; Wada Hiroko; Ishibashi Kazuto; Nishiyama Atsushi; Kakumoto Mikio; Sakaeda Toshiyuki; Saura Ryuichi; Okumura Katsuhiko; Matsuo Masafumi
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: Nozu Kandai; Iijima Kazumoto; Kamioka Ichiro; Fujita Teruo; Yoshiya Kunihiko; Tanaka Ryojiro; Nakanishi Koichi; Yoshikawa Norishige; Matsuo Masafumi
High-dose mizoribine treatment for adolescents with systemic lupus erythematosus.
Pediatrics international : official journal of the Japan Pediatric Society 2006;48(2):152-7.
2006: Goji Katsumi; Ozaki Kayo; Sadewa Ahmad H; Nishio Hisahide; Matsuo Masafumi
Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait.
The Journal of clinical endocrinology and metabolism 2006;91(2):365-70.
2006: Fujita Teruo; Nozu Kandai; Iijima Kazumoto; Kamioka Ichiro; Yoshiya Kunihiko; Tanaka Ryojiro; Hamahira Kiyoshi; Nakanishi Koichi; Yoshikawa Norishige; Matsuo Masafumi
Long-term follow-up of atypical membranoproliferative glomerulonephritis: are steroids indicated?
Pediatric nephrology (Berlin, Germany) 2006;21(2):194-200.
2006: Sakaeda Toshiyuki; Iijima Kazumoto; Nozu Kandai; Nakamura Tsutomu; Moriya Yuka; Nishikawa Mika; Wada Atsushi; Okamura Noboru; Matsuo Masafumi; Okumura Katsuhiko
Prediction of systemic exposure to cyclosporine in Japanese pediatric patients.
Journal of human genetics 2006;51(11):969-76.
2006: Ishibashi Kazuto; Takeshima Yasuhiro; Yagi Mariko; Nishiyama Atsushi; Matsuo Masafumi
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.
2006: Tei Satoshi; Tsuneishi Syuichi; Matsuo Masafumi
The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 gene.
The Kobe journal of medical sciences 2006;52(1-2):1-8.
2006: Yusoff Surini; Van Rostenberghe Hans; Yusoff Narazah M; Talib Norlelawati A; Ramli Noraida; Ismail N Zainal A N; Ismail W Pauzi W; Matsuo Masafumi; Nishio Hisahide
Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population.
Biology of the neonate 2006;89(3):171-6.
2005: Nozu Kandai; Iijima Kazumoto; Fujisawa Masato; Nakagawa Atsuko; Yoshikawa Norishige; Matsuo Masafumi
Rituximab treatment for posttransplant lymphoproliferative disorder (PTLD) induces complete remission of recurrent nephrotic syndrome.
Pediatric nephrology (Berlin, Germany) 2005;20(11):1660-3.
2005: Matsuo M; Takeshima Y
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: Takeshima Yasuhiro; Yagi Mariko; Wada Hiroko; Matsuo Masafumi
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: Thi Tran Hoai Thu; Takeshima Yasuhiro; Surono Agus; Yagi Mariko; Wada Hiroko; Matsuo Masafumi
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: Nozu Kandai; Iijima Kazumoto; Sakaeda Toshiyuki; Okumura Katsuhiko; Nakanishi Koichi; Yoshikawa Norishige; Honda Masataka; Ikeda Masahiro; Matsuo Masafumi
Cyclosporin A absorption profiles in children with nephrotic syndrome.
Pediatric nephrology (Berlin, Germany) 2005;20(7):910-3.
2005: Jalloh Salamatu; Van Rostenberghe Hans; Yusoff Narazah M; Ghazali Selamah; Nik Ismail Nik Zainal; Matsuo Masafumi; Wahab Nor Akmal; Nishio Hisahide
Poor correlation between hemolysis and jaundice in glucose 6-phosphate dehydrogenase-deficient babies.
Pediatrics international : official journal of the Japan Pediatric Society 2005;47(3):258-61.
2005: Saifur Rohman Mohammad; Emoto Noriaki; Nonaka Hidemi; Okura Ryusuke; Nishimura Masataka; Yagita Kazuhiro; van der Horst Gijsbertus T J; Matsuo Masafumi; Okamura Hitoshi; Yokoyama Mitsuhiro
Circadian clock genes directly regulate expression of the Na(+)/H(+) exchanger NHE3 in the kidney.
Kidney international 2005;67(4):1410-9.
2005: Acharya Bishnu; Shirakawa Toshiro; Pungky Ardanykusuma; Damanik Parlin; Massi Muh Nasrum; Miyata Masahiro; Matsuo Masafumi; Gotoh Akinobu
Polymorphism of the interleukin-4, interleukin-13, and signal transducer and activator of transcription 6 genes in Indonesian children with minimal change nephrotic syndrome.
American journal of nephrology 2005;25(1):30-5.
2005: Sasongko Teguh Haryo; Sadewa Ahmad Hamim; Kusuma Pungky Ardani; Damanik Martua Parlindungan; Lee Myeong Jin; Ayaki Hitoshi; Nozu Kandai; Goto Akinobu; Matsuo Masafumi; Nishio Hisahide
ACE gene polymorphism in children with nephrotic syndrome in the Indonesian population.
The Kobe journal of medical sciences 2005;51(3-4):41-7.
2005: Tran Van Khanh; Zhang Zhujun; Yagi Mariko; Nishiyama Atsushi; Habara Yasuaki; Takeshima Yasuhiro; Matsuo Masafumi
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: Yamamori Motohiro; Sakaeda Toshiyuki; Nakamura Tsutomu; Okamura Noboru; Tamura Takao; Aoyama Nobuo; Kamigaki Takashi; Ohno Masakazu; Shirakawa Toshiro; Gotoh Akinobu; Kuroda Yoshikazu; Matsuo Masafumi; Kasuga Masato; Okumura Katsuhiko
Association of VEGF genotype with mRNA level in colorectal adenocarcinomas.
Biochemical and biophysical research communications 2004;325(1):144-50.
2004: Suminaga Ryo; Takeshima Yasuhiro; Wada Hiroko; Yagi Mariko; Matsuo Masafumi
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: Zilfalil B A; Zabidi-Hussin A M H; Watihayati M S; Rozainah M Y; Naing L; Sutomo R; Nishio H; Narazah M Y; Matsuo M
Analysis of the survival motor neuron and neuronal apoptosis inhibitory protein genes in Malay patients with Spinal Muscular Atrophy.
The Medical journal of Malaysia 2004;59(4):512-4.
2004: Sutomo Retno; Talib Norlelawati A; Yusoff Narazah M; Van Rostenberghe Hans; Sadewa Ahmad H; Sunarti; Sofro Abdul S M; Yokoyama Naoki; Lee Myeong J; Matsuo Masafumi; Nishio Hisahide
Screening for G71R mutation of the UGT1A1 gene in the Javanese-Indonesian and Malay-Malaysian populations.
Pediatrics international : official journal of the Japan Pediatric Society 2004;46(5):565-9.
2004: Surono Agus; Van Khanh Tran; Takeshima Yasuhiro; Wada Hiroko; Yagi Mariko; Takagi Miho; Koizumi Makoto; Matsuo Masafumi
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: Sadewa Ahmad Hamim; Sutomo Retno; Istiadjid Mohamad; Nishiyama Kaoru; Shirakawa Taku; Matsuo Masafumi; Nishio Hisahide
C677T mutation in the MTHFR gene was not found in patients with frontoethmoidal encephalocele in East Java, Indonesia.
Pediatrics international : official journal of the Japan Pediatric Society 2004;46(4):409-14.
2004: Fu Xue Jun; Iijima Kazumoto; Nozu Kandai; Hamahira Kiyoshi; Tanaka Ryojiro; Oda Tatsuya; Yoshikawa Norishige; Matsuo Masafumi
Role of p38 MAP kinase pathway in a toxin-induced model of hemolytic uremic syndrome.
Pediatric nephrology (Berlin, Germany) 2004;19(8):844-52.
2004: Morisawa Takeshi; Yagi Mariko; Surono Agus; Yokoyama Naoki; Ohmori Makoto; Terashi Hiroto; Matsuo Masafumi
Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.
Human genetics 2004;115(2):97-103.
2004: Tanimoto Hitoshi; Nishio Hisahide; Matsuo Masafumi; Nibu Ken-ichi
A novel mitochondrial mutation, 1556C --> T, in a Japanese patient with streptomycin-induced tinnitus.
Acta oto-laryngologica 2004;124(3):258-61.
2004: Nakahara Takako; Sakaeda Toshiyuki; Nakamura Tsutomu; Tamura Takao; Nishioka Chiharu; Aoyama Nobuo; Okamura Noboru; Shirakawa Toshiro; Gotoh Akinobu; Kamigaki Takashi; Ohno Masakazu; Kuroda Yoshikazu; Matsuo Masafumi; Kasuga Masato; Okumura Katsuhiko
Chemosensitivity assessed by collagen gel droplet embedded culture drug sensitivity test, and MDR1, MRP1, and MRP2 mRNA expression in human colorectal adenocarcinomas.
Pharmaceutical research 2004;21(3):406-12.
2004: Matsuo Masafumi; Takeshima Yasuhiro; Yagi Mariko; Ishibashi Kazuto; Wada Hiroko
[Treatment of Duchenne muscular dystrophy with gentamicin]
No to hattatsu. Brain and development 2004;36(2):125-9.
2004: Yoshioka Shiro; Okimura Yasuhiko; Takahashi Yutaka; Iida Keiji; Kaji Hidesuke; Matsuo Masafumi; Chihara Kazuo
Up-regulation of mitochondrial transcription factor 1 mRNA levels by GH in VSMC.
Life sciences 2004;74(17):2097-109.
2004: Silao Catherine Lynn T; Padilla Carmencita D; Matsuo Masafumi
A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease.
Molecular genetics and metabolism 2004;81(2):100-4.
2004: Morioka Ichiro; Tsuneishi Syuichi; Takada Satoshi; Matsuo Masafumi
PDGF-alpha receptor expression following hypoxic-ischemic injury in the neonatal rat brain.
The Kobe journal of medical sciences 2004;50(1-2):21-30.
2004: Takagi Miho; Yagi Mariko; Ishibashi Kazuto; Takeshima Yasuhiro; Surono Agus; Matsuo Masafumi; Koizumi Makoto
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: Yagi Mariko; Takeshima Yasuhiro; Surono Agus; Takagi Miho; Koizumi Makoto; Matsuo Masafumi
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: Zhang Zhujun; Shirakawa Toshiro; Hinata Nobuyuki; Matsumoto Akira; Fujisawa Masato; Okada Hiroshi; Kamidono Sadao; Matsuo Masafumi; Gotoh Akinobu
Combination with CD/5-FC gene therapy enhances killing of human bladder-cancer cells by radiation.
The journal of gene medicine 2003;5(10):860-7.
2003: Rohman Mohammad Saifur; Emoto Noriaki; Takeshima Yasuhiro; Yokoyama Mitsuhiro; Matsuo Masafumi
Decreased mAKAP, ryanodine receptor, and SERCA2a gene expression in mdx hearts.
Biochemical and biophysical research communications 2003;310(1):228-35.
2003: Isaka Daiji; Emoto Noriaki; Raharjo Sunu Budhi; Yokoyama Mitsuhiro; Matsuo Masafumi
The effects of phosphoramidon on the expression of human endothelin-converting enzyme-1 (ECE-1) isoforms.
Journal of cardiovascular pharmacology 2003;42(1):136-41.
2003: Zhou Aihua; Ueno Hikaru; Shimomura Mayumi; Tanaka Ryojiro; Shirakawa Toshiro; Nakamura Hajime; Matsuo Masafumi; Iijima Kazumoto
Blockade of TGF-beta action ameliorates renal dysfunction and histologic progression in anti-GBM nephritis.
Kidney international 2003;64(1):92-101.
2003: Ito T; Takeshima Y; Yagi M; Kamei S; Wada H; Nakamura H; Matsuo M
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: Nurhantari Yudha; Emoto Noriaki; Rahayu Pudji; Matsuo Masafumi
Nasopharyngeal carcinoma in Indonesia has a low prevalence of the 30-base pair deletion of Epstein-Barr virus latent membrane protein 1.
The Southeast Asian journal of tropical medicine and public health 2003;34(1):98-105.
2003: Padilla Carmencita; Nishiyama Kaoru; Shirakawa Taku; Matsuo Masafumi;
Screening for glucose-6-phosphate dehydrogenase deficiency using a modified formazan method: a pilot study on Filipino male newborns.
Pediatrics international : official journal of the Japan Pediatric Society 2003;45(1):10-5.
2003: Nakumura Tsutomu; Sakaeda Toshiyuki; Ohmoto Nobuko; Moriya Yuka; Komoto Chiho; Shirakawa Toshiro; Gotoh Akinobu; Matsuo Masafumi; Okmura Katsuhiko
Gene expression profiles of ABC transporters and cytochrome P450 3A in Caco-2 and human colorectal cancer cell lines.
Pharmaceutical research 2003;20(2):324-7.
2003: Hidayat Sujuti; Yoshino Ken-ichi; Tokunaga Chiharu; Hara Kenta; Matsuo Masafumi; Yonezawa Kazuyoshi
Inhibition of amino acid-mTOR signaling by a leucine derivative induces G1 arrest in Jurkat cells.
Biochemical and biophysical research communications 2003;301(2):417-23.
2003: Yagi Mariko; Takeshima Yasuhiro; Wada Hiroko; Nakamura Hajime; Matsuo Masafumi
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: Ikeda Koji; Emoto Noriaki; Matsuo Masafumi; Yokoyama Mitsuhiro
Molecular identification and characterization of a novel nuclear protein whose expression is up-regulated in insulin-resistant animals.
The Journal of biological chemistry 2003;278(6):3514-20.
2003: Adachi Kayo; Takeshima Yasuhiro; Wada Hiroko; Yagi Mariko; Nakamura Hajime; Matsuo Masafumi
Heterogous dystrophin mRNA produced by a novel splice acceptor site mutation in intermediate dystrophinopathy.
Pediatric research 2003;53(1):125-31.
2003: Yusoff Narazah Mohd; Shirakawa Taku; Nishiyama Kaoro; Ee Choo Keng; Isa Mohd Nizam; Matsuo Masafumi
G6PD Viangchan and G6PD Mediterranean are the main variants in G6PD deficiency in the Malay population of Malaysia.
The Southeast Asian journal of tropical medicine and public health 2003;34 Suppl 3():135-7.
2003: Matsuo Masafumi; Nishiyama Kaoru; Shirakawa Taku; Padilla Carmencita David; San Lai Poh; Suryantoro Purnomo; Yusoff Narazah Mohd; Dao Nguyen Thi Ngoc
Glucose-6-phosphate dehydrogenase deficiency: molecular heterogeneity in southeast Asian countries.
The Southeast Asian journal of tropical medicine and public health 2003;34 Suppl 3():127-9.
2003: Nguyen Duc Bach; Sadewa Ahmad Hamin; Takeshima Yasuhiro; Sutomo Retno; Tran Van Khanh; Nguyen Thi Ngoc Dao; Nguyen Thi Hoan; Vu Chi Dung; Dang Diem Hong; Harada Yosuke; Nishio Hisahide; Matsuo Masafumi
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: Yusoff Narazah Mohd; Van Rostenberghe Hans; Shirakawa Taku; Nishiyama Kaoru; Amin Noryati; Darus Zainal; Zainal Nik; Isa Nizam; Nozu Hiroyuki; Matsuo Masafumi
High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis.
Journal of human genetics 2003;48(12):650-3.
2002: Khanh Tran Van; Takeshima Yasuhiro; Harada Yosuke; Nishio Hisahide; Dao Nguyen Thi Ngoc; Hoan Nguyen Thi; Thao Bui Phuong; Matsuo Masafumi
Molecular genetic analyses of five Vietnamese patients with spinal muscular atrophy.
The Kobe journal of medical sciences 2002;48(5-6):177-82.
2002: Sadewa Ahmad Hamim; Sunarti; Sutomo Retno; Hayashi Chiyo; Lee Myeong Jin; Ayaki Hitoshi; Sofro Abdul Salam M; Matsuo Masafumi; Nishio Hisahide
The C677T mutation in the methylenetetrahydrofolate reductase gene among the Indonesian Javanese population.
The Kobe journal of medical sciences 2002;48(5-6):137-44.
2002: Sutomo Retno; Akutsu Tomoko; Takeshima Yasuhiro; Nishio Hisahide; Sadewa Ahmad Hamim; Harada Yosuke; Matsuo Masafumi
Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy.
American journal of medical genetics 2002;113(2):225-6.
2002: Sakaeda Toshiyuki; Nakamura Tsutomu; Hirai Midori; Kimura Takashi; Wada Atsushi; Yagami Tatsurou; Kobayashi Hironao; Nagata Shunji; Okamura Noboru; Yoshikawa Takayoshi; Shirakawa Toshiro; Gotoh Akinobu; Matsuo Masafumi; Okumura Katsuhiko
MDR1 up-regulated by apoptotic stimuli suppresses apoptotic signaling.
Pharmaceutical research 2002;19(9):1323-9.
2002: Harada Yosuke; Sutomo Retno; Sadewa Ahmad Hamim; Akutsu Tomoko; Takeshima Yasuhiro; Wada Hiroko; Matsuo Masafumi; Nishio Hisahide
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: Adachi Kayo; Yagi Mariko; Ito Toshiyuki; Takeshima Yasuhiro; Nishio Hisahide; Wada Hiroko; Nakamura Hajime; Matsuo Masafumi
[Dystrophin gene analysis on 76 families with dystrophinopathy]
No to hattatsu. Brain and development 2002;34(5):391-7.
2002: Saito-Ohara Fumiko; Fukuda Yoji; Ito Masahiro; Agarwala Kishan Lal; Hayashi Masaharu; Matsuo Masafumi; Imoto Issei; Yamakawa Kazuhiro; Nakamura Yusuke; Inazawa Johji
The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.
American journal of human genetics 2002;71(3):637-45.
2002: Yusoff Narazah Mohd; Shirakawa Taku; Nishiyama Kaoru; Ghazali Selamah; Ee Choo Keng; Orita Ayako; Abdullah Wan Zaidah; Isa Mohd Nizam; Van Rostenberghe Hans; Matsuo Masafumi
Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Malays in Malaysia.
International journal of hematology 2002;76(2):149-52.
2002: Sutomo Retno; Laosombat Vichai; Sadewa Ahmad Hamim; Yokoyama Naoki; Nakamura Hajime; Matsuo Masafumi; Nishio Hisahide
Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome.
Pediatrics international : official journal of the Japan Pediatric Society 2002;44(4):427-32.
2002: Wibawa Tri; Soebono Hardyanto; Matsuo Masafumi
Association of a missense mutation of the laminin alpha2 gene with tuberculoid type of leprosy in Indonesian patients.
Tropical medicine & international health : TM & IH 2002;7(7):631-6.
2002: Ikeda Shoko; Emoto Noriaki; Alimsardjono Haryanto; Yokoyama Mitsuhiro; Matsuo Masafumi
Molecular isolation and characterization of novel four subisoforms of ECE-2.
Biochemical and biophysical research communications 2002;293(1):421-6.
2002: Nakamura Tsutomu; Sakaeda Toshiyuki; Horinouchi Masanori; Tamura Takao; Aoyama Nobuo; Shirakawa Toshiro; Matsuo Masafumi; Kasuga Masato; Okumura Katsuhiko
Effect of the mutation (C3435T) at exon 26 of the MDR1 gene on expression level of MDR1 messenger ribonucleic acid in duodenal enterocytes of healthy Japanese subjects.
Clinical pharmacology and therapeutics 2002;71(4):297-303.
2002: Akutsu Tomoko; Nishio Hisahide; Sumino Kimiaki; Takeshima Yasuhiro; Tsuneishi Syuichi; Wada Hiroko; Takada Satoshi; Matsuo Masafumi; Nakamura Hajime
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: Matsuo Masafumi
Duchenne and Becker muscular dystrophy: from gene diagnosis to molecular therapy.
IUBMB life 2002;53(3):147-52.
2002: Nakamura Tsutomu; Sakaeda Toshiyuki; Ohmoto Nobuko; Tamura Takao; Aoyama Nobuo; Shirakawa Toshiro; Kamigaki Takashi; Nakamura Takeshi; Kim Ke Ih; Kim Soo Ryang; Kuroda Yoshikazu; Matsuo Masafumi; Kasuga Masato; Okumura Katsuhiko
Real-time quantitative polymerase chain reaction for MDR1, MRP1, MRP2, and CYP3A-mRNA levels in Caco-2 cell lines, human duodenal enterocytes, normal colorectal tissues, and colorectal adenocarcinomas.
Drug metabolism and disposition: the biological fate of chemicals 2002;30(1):4-6.
2002: Suminaga Ryo; Takeshima Yasuhiro; Adachi Kayo; Yagi Mariko; Nakamura Hajime; Matsuo Masafumi
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: Takeshima Y; Wada H; Yagi M; Ishikawa Y; Ishikawa Y; Minami R; Nakamura H; Matsuo M
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: Ito T; Takeshima Y; Sakamoto H; Nakamura H; Matsuo M
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.
2001: Raharjo S B; Emoto N; Ikeda K; Sato R; Yokoyama M; Matsuo M
Alternative splicing regulates the endoplasmic reticulum localization or secretion of soluble secreted endopeptidase.
The Journal of biological chemistry 2001;276(27):25612-20.
2000: Nonaka M; Matsuo M
[Comparative genomics of the teleost MHC]
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme 2000;45(17 Suppl):2918-23.
2000: Shirakawa T; Gotoh A; Gardner T A; Kao C; Zhang Z J; Matsubara S; Wada Y; Hinata N; Fujisawa M; Hanioka K; Matsuo M; Kamidono S
p53 adenoviral vector (Ad-CMV-p53) induced prostatic growth inhibition of primary cultures of human prostate and an experimental rat model.
The journal of gene medicine 2000;2(6):426-32.
2000: Matsuo M; Muroya K; Adachi M; Tachibana K; Asakura Y; Nakagomi Y; Hanaki K; Yokoya S; Yoshizawa A; Igarashi Y; Hanew K; Matsuo N; Ogata T
Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development.
Human genetics 2000;107(5):433-9.
2000: Matsuo M; Muroya K; Nanao K; Hasegawa Y; Terasaki H; Kosaki K; Ogata T
Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: analysis of the X-inactivation patterns.
American journal of medical genetics 2000;91(4):267-72.
2000: Wibawa T; Takeshima Y; Mitsuyoshi I; Wada H; Surono A; Nakamura H; Matsuo M
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: Dwi Pramono Z A; Takeshima Y; Surono A; Ishida T; Matsuo M
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: Suminaga R; Takeshima Y; Yasuda K; Shiga N; Nakamura H; Matsuo M
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: Tamasu S; Nishio H; Ayaki H; Lee M J; Mizutori M; Takeshima Y; Nakamura H; Matsuo M; Maruo T; Sumino K
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: Ikeda K; Emoto N; Raharjo S B; Nurhantari Y; Saiki K; Yokoyama M; Matsuo M
Molecular identification and characterization of novel membrane-bound metalloprotease, the soluble secreted form of which hydrolyzes a variety of vasoactive peptides.
The Journal of biological chemistry 1999;274(45):32469-77.
1999: Patria S Y; Takeshima Y; Suminaga R; Nakamura H; Iwasaki R; Minagawa T; Matsuo M
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: Matsuo M; Muroya K; Kosaki K; Ishii T; Fukushima Y; Anzo M; Ogata T
Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature.
American journal of medical genetics 1999;86(1):44-50.
1999: Nishio H; Horikawa H; Yakura H; Sugie K; Nakamuro T; Koterazawa K; Ishikawa Y; Lee M J; Wada H; Takeshima Y; Matsuo M; Sumino K
Hybrid survival motor neuron genes in Japanese patients with spinal muscular atrophy.
Acta neurologica Scandinavica 1999;99(6):374-80.
1999: Silao C L; Shirakawa T; Nishiyama K; Padilla C; Matsuo M
Molecular basis of glucose-6-phosphate dehydrogenase deficiency among Filipinos.
Pediatrics international : official journal of the Japan Pediatric Society 1999;41(2):138-41.
1999: Surono A; Takeshima Y; Wibawa T; Ikezawa M; Nonaka I; Matsuo M
Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing.
Human molecular genetics 1999;8(3):493-500.
1999: Chen D H; Takeshima Y; Ishikawa Y; Ishikawa Y; Minami R; Matsuo M
A novel deletion of the dystrophin S-promoter region cosegregating with mental retardation.
Neurology 1999;52(3):638-40.
1999: Nishio H; Ishikawa Y; Lee M J; Takeshima Y; Wada H; Takada S; Nakamura H; Matsuo M; Sumino K
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.
1999: Emoto N; Nurhantari Y; Alimsardjono H; Xie J; Yamada T; Yanagisawa M; Matsuo M
Constitutive lysosomal targeting and degradation of bovine endothelin-converting enzyme-1a mediated by novel signals in its alternatively spliced cytoplasmic tail.
The Journal of biological chemistry 1999;274(3):1509-18.
1998: Goji K; Kuwahara M; Gu Y; Matsuo M; Marumo F; Sasaki S
Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function.
The Journal of clinical endocrinology and metabolism 1998;83(9):3205-9.
1998: Yanagawa H; Nishio H; Takeshima Y; Saiki K; Nakamura H; Matsuo M
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.
1998: Goji K; Nishijima E; Tsugawa C; Nishio H; Pokharel R K; Matsuo M
Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.
Human mutation 1998;Suppl 1():S114-6.
1997: Romi M M; Patria S Y; Matsuo M
Met 235 Thr polymorphism of angiotensinogen in Indonesians.
The Japanese journal of human genetics 1997;42(4):557-9.
1997: Ishigaki C; Patria S Y; Nishio H; Yoshioka A; Matsuo M
Early cardiac failure in a child with Becker muscular dystrophy is due to an abnormally low amount of dystrophin transcript lacking exon 13.
Acta paediatrica Japonica; Overseas edition 1997;39(6):685-9.
1997: Takeshima Y; Matsuo M
[Molecular genetics and problems found in genetic diagnosis of Duchenne Becker muscular dystrophy]
Nippon rinsho. Japanese journal of clinical medicine 1997;55(12):3120-5.
1997: Shiga N; Takeshima Y; Sakamoto H; Inoue K; Yokota Y; Yokoyama M; Matsuo M
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: Surono A; Takeshima Y; Wibawa T; Pramono Z A; Matsuo M
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: Shirakawa T; Nishiyama K; Lai P S; Matsuo M
A comprehensive method to scan for point mutations of the glucose 6 phosphate dehydrogenase gene.
The Japanese journal of human genetics 1997;42(3):417-23.
1997: Nishio H; Ishikawa Y; Lee M J; Fujii M; Kanda F; Jinnai K; Takahashi K; Takeshima Y; Wada H; Takada S; Nakamura H; Matsuo M; Sumino K
Decreased expression of full-length mRNA for cBCD541 does not correlate with spinal muscular atrophy phenotype severity.
Neurology 1997;48(5):1266-70.
1997: Alimsardjono H; Mukono I S; Dachlan Y P; Matsuo M
Deletion of twenty seven nucleotides within exon 11 of the band 3 gene identified in ovalocytosis in Lombok Island, Indonesia.
The Japanese journal of human genetics 1997;42(1):233-6.
1996: Pokharel R K; Alimsardjono H; Takeshima Y; Nakamura H; Naritomi K; Hirose S; Onishi S; Matsuo M
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: Wada H; Nishio H; Nagaki S; Yanagawa H; Imamura A; Yokoyama S; Sano T; Woo M; Matsuo M; Itoh H; Nakamura H
[Benign infantile mitochondrial myopathy caused by reversible cytochrome c oxidase deficiency]
No to hattatsu. Brain and development 1996;28(5):443-7.
1996: Pramono Z A; Takeshima Y; Alimsardjono H; Ishii A; Takeda S; Matsuo M
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: Wada H; Woo M; Nishio H; Nagaki S; Yanagawa H; Imamura A; Yokoyama S; Ohbayashi C; Matsuo M; Itoh H; Nakamura H
Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrome c oxidase deficiency.
Brain & development 1996;18(4):263-8.
1996: Patria S Y; Alimsardjono H; Nishio H; Takeshima Y; Nakamura H; Matsuo M
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.
1996: Nishio H; Lee M J; Fujii M; Kario K; Kayaba K; Shimada K; Matsuo M; Sumino K
A common mutation in methylenetetrahydrofolate reductase gene among the Japanese population.
The Japanese journal of human genetics 1996;41(2):247-51.
1996: Matsuo M
Duchenne/Becker muscular dystrophy: from molecular diagnosis to gene therapy.
Brain & development 1996;18(3):167-72.
1996: Ishigaki C; Patria S Y; Nishio H; Yabe M; Matsuo M
A Japanese boy with myalgia and cramps has a novel in-frame deletion of the dystrophin gene.
Neurology 1996;46(5):1347-50.
1996: Shirakawa T; Nishiyama K; Poh-San L; Ishida T; Matsuo M
Comparison of insertion rate of L1 retroposon into intron 30 of the neurofibromatosis type 1 gene in seven Asian and Pacific populations.
The Japanese journal of human genetics 1996;41(1):209-14.
1996: Wada H; Nishio H; Kugo M; Waku S; Ikeda K; Takada S; Murakami R; Itoh H; Matsuo M; Nakamura H
Severe neonatal nemaline myopathy with delayed maturation of muscle.
Brain & development 1996;18(2):135-8.
1995: Matsuo M
[Problems found in genetic diagnosis of DMD/BMD]
Rinsho shinkeigaku = Clinical neurology 1995;35(12):1413-5.
1995: Pokharel R K; Alimsardjono H; Uno K; Fujii S; Shiba R; Matsuo M
A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia.
Biochemical and biophysical research communications 1995;217(3):1157-62.
1995: Yu Y; Yamabe H; Fujita H; Inoue T; Yokota Y; Nishio H; Wada H; Matsuo M; Yokoyama M
Cardiac involvement in a family with Becker muscular dystrophy.
Internal medicine (Tokyo, Japan) 1995;34(9):919-23.
1995: Nishiuma S; Kario K; Kayaba K; Nagio N; Shimada K; Matsuo T; Matsuo M
Effect of the angiotensinogen gene Met235-->Thr variant on blood pressure and other cardiovascular risk factors in two Japanese populations.
Journal of hypertension 1995;13(7):717-22.
1995: Suryantoro P; Takeshima Y; Haryanto A; Matsuo M
C to T transition at the first nucleotide of codon 63 of the beta-globin gene corresponding to hemoglobin M-Saskatoon in an Indonesian boy.
The Japanese journal of human genetics 1995;40(2):195-201.
1995: Takeshima Y; Nishio H; Sakamoto H; Nakamura H; Matsuo M
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.
1995: Matsuo M
Medical genetics in Japan.
The Southeast Asian journal of tropical medicine and public health 1995;26 Suppl 1():9-10.
1995: Matsuo M
Duchenne muscular dystrophy.
The Southeast Asian journal of tropical medicine and public health 1995;26 Suppl 1():166-71.
1994: Nishio H; Takeshima Y; Narita N; Yanagawa H; Suzuki Y; Ishikawa Y; Ishikawa Y; Minami R; Nakamura H; Matsuo M
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: Takeshima Y; Nishio H; Narita N; Wada H; Ishikawa Y; Ishikawa Y; Minami R; Nakamura H; Matsuo M
Amino-terminal deletion of 53% of dystrophin results in an intermediate Duchenne-Becker muscular dystrophy phenotype.
Neurology 1994;44(9):1648-51.
1994: Kitoh Y; Matsuo M; Nishio H; Nakamura H
Amplification of selected exons by polymerase chain reaction enables determination of the translational reading frame of dystrophin mRNA resulting from deletion mutations.
The Kobe journal of medical sciences 1994;40(2):39-48.
1994: Takeshima Y; Sofro A S; Suryantoro P; Narita N; Matsuo M
Twenty seven nucleotide deletion within exon 11 of the erythrocyte band 3 gene in Indonesian ovalocytosis.
The Japanese journal of human genetics 1994;39(1):181-5.
1994: Hagiwara Y; Nishio H; Kitoh Y; Takeshima Y; Narita N; Wada H; Yokoyama M; Nakamura H; Matsuo M
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.
1993: Nishio H; Matsuo M; Kitoh Y; Narita N; Shimmoto M; Suzuki Y; Nakamura H
Brain- and muscle-type promoters of the dystrophin gene are selected in peripheral lymphocytes and Epstein Barr virus-transformed lymphoblastoid [correction of lymphoplastoid] cells.
Journal of neurology 1993;241(2):81-6.
1993: Narita N; Nishio H; Kitoh Y; Ishikawa Y; Ishikawa Y; Minami R; Nakamura H; Matsuo M
Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.
The Journal of clinical investigation 1993;91(5):1862-7.
1992: Kitoh Y; Matsuo M; Nishio H; Takumi T; Nakajima T; Masumura T; Koga J; Nakamura H
Amplification of ten deletion-rich exons of the dystrophin gene by polymerase chain reaction shows deletions in 36 of 90 Japanese families with Duchenne muscular dystrophy.
American journal of medical genetics 1992;42(4):453-7.
1992: Matsuo M; Nishio H; Kitoh Y; Francke U; Nakamura H
Partial deletion of a dystrophin gene leads to exon skipping and to loss of an intra-exon hairpin structure from the predicted mRNA precursor.
Biochemical and biophysical research communications 1992;182(2):495-500.
1991: Matsuo M; Masumura T; Nishio H; Nakajima T; Kitoh Y; Takumi T; Koga J; Nakamura H
Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe.
The Journal of clinical investigation 1991;87(6):2127-31.
1991: Nakajima T; Matsuo M; Kitoh Y; Takumi T; Nishio H; Masumura T; Koga J; Nakamura H
Screening of gene deletions by polymerase chain reaction in Japanese patients with Duchenne muscular dystrophy.
Journal of neurology 1991;238(1):6-8.
1991: Nakajima T; Matsuo M; Nakamura H; Fujiwara Y
Southern blot and PCR analyses of dystrophin gene deletions in Japanese patients with Duchenne muscular dystrophy.
The Kobe journal of medical sciences 1991;37(1):21-33.
1990: Matsuo M; Masumura T; Nakajima T; Kitoh Y; Takumi T; Nishio H; Koga J; Nakamura H
A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene.
Biochemical and biophysical research communications 1990;170(2):963-7.
1989: Matsuo M; Maeda E; Nakamura H; Koike K; Koike M
Hepatic phosphoenolpyruvate carboxykinase deficiency: a neonatal case with reduced activity of pyruvate carboxylase.
Journal of inherited metabolic disease 1989;12(3):336-7.
1987: Matsuo M; Saiki K; Tanabe J; Nakamura H; Matsuo T
Citrullinaemia: an infantile form with p-hydroxyphenylpyruvic and p-hydroxyphenyllactic acidurias.
Journal of inherited metabolic disease 1987;10(3):276.

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