Works matching AU Matsuo, Masafumi

Results: 159

Combination with CD/5-FC gene therapy enhances killing of human bladder-cancer cells by radiation.

Published in:

Journal of Gene Medicine, 2003, v. 5, n. 10, p. 860, doi. 10.1002/jgm.408

By:

Zhujun Zhang;
Toshiro Shirakawa;
Nobuyuki Hinata;
Akira Matsumoto;
Masato Fujisawa;
Hiroshi Okada;
Sadao Kamidono;
Masafumi Matsuo

Publication type:

Article

p53 Adenoviral vector (Ad-CMV-p53) induced prostatic growth inhibition of primary cultures of human prostate and an experimental rat model.

Published in:

Journal of Gene Medicine, 2000, v. 2, n. 6, p. 426, doi. 10.1002/1521-2254(200011/12)2:6<426::AID-JGM140>3.0.CO;2-2

By:

Shirakawa, Toshiro;
Gotoh, Akinobu;
Gardner, Thomas A.;
Kao, Chinghai;
Zhang, Zhu-Jun;
Matsubara, Shigeji;
Wada, Yoshitaka;
Hinata, Nobuyuki;
Fujisawa, Masato;
Hanioka, Keisuke;
Matsuo, Masafumi;
Kamidono, Sadao

Publication type:

Article

Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon.

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 369, doi. 10.1002/humu.21663

By:

Solyom, Szilvia;
Ewing, Adam D.;
Hancks, Dustin C.;
Takeshima, Yasuhiro;
Awano, Hiroyuki;
Matsuo, Masafumi;
Kazazian, Haig H.

Publication type:

Article

A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling CrebA knockout mouse.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 651, doi. 10.1002/humu.22027

By:

Kitazawa, Sohei;
Kondo, Takeshi;
Mori, Kiyoshi;
Yokoyama, Naoki;
Matsuo, Masafumi;
Kitazawa, Riko

Publication type:

Article

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 196, doi. 10.1002/humu.20428

By:

Béroud, Christophe;
Tuffery-Giraud, Sylvie;
Matsuo, Masafumi;
Hamroun, Dalil;
Humbertclaude, Véronique;
Monnier, Nicole;
Moizard, Marie-Pierre;
Voelckel, Marie-Antoinette;
Calemard, Laurence Michel;
Boisseau, Pierre;
Blayau, Martine;
Philippe, Christophe;
Cossée, Mireille;
Pagès, Michel;
Rivier, François;
Danos, Olivier;
Garcia, Luis;
Claustres, Mireille

Publication type:

Article

Exon Deletion Patterns of the Dystrophin Gene in 82 Vietnamese Duchenne/Becker Muscular Dystrophy Patients.

Published in:

Journal of Neurogenetics, 2013, v. 27, n. 4, p. 170, doi. 10.3109/01677063.2013.830616

By:

Tran, Van Khanh;
Ta, Van Thanh;
Vu, Dung Chi;
Nguyen, Suong Thi-Bang;
Do, Hai Ngoc;
Ta, Minh Hieu;
Tran, Thinh Huy;
Matsuo, Masafumi

Publication type:

Article

Mutation Spectrum of Dystrophin Gene in Malaysian Patients with Duchenne/Becker Muscular Dystrophy.

Published in:

Journal of Neurogenetics, 2013, v. 27, n. 1/2, p. 11, doi. 10.3109/01677063.2012.762580

By:

Rani, Abdul Qawee;
Sasongko, Teguh Haryo;
Sulong, Sarina;
Bunyan, David;
Salmi, Abdul Razak;
Zilfalil, Bin Alwi;
Matsuo, Masafumi;
Zabidi-Hussin, Z. A. M. H.

Publication type:

Article

Early detection of tumor relapse/regrowth by consecutive minimal residual disease monitoring in high-risk neuroblastoma patients.

Published in:

Oncology Letters, 2016, v. 12, n. 2, p. 1119, doi. 10.3892/ol.2016.4682

By:

SATOSHI HIRASE;
ATSURO SAITOH;
TRI BUDI HARTOMO;
AIKO KOZAKI;
TOMOKO YANAI;
DAIICHIRO HASEGAWA;
KEIICHIRO KAWASAKI;
YOSHIYUKI KOSAKA;
MASAFUMI MATSUO;
NOBUYUKI YAMAMOTO;
TAKESHI MORI;
AKIRA HAYAKAWA;
KAZUMOTO IIJIMA;
HISAHIDE NISHIO;
NORIYUKI NISHIMURA

Publication type:

Article

Differential expression of minimal residual disease markers in peripheral blood and bone marrow samples from high-risk neuroblastoma patients.

Published in:

Oncology Letters, 2015, v. 10, n. 5, p. 3228, doi. 10.3892/ol.2015.3710

By:

NOBUYUKI YAMAMOTO;
AIKO KOZAKI;
TRI BUDI HARTOMO;
TOMOKO YANAI;
DAIICHIRO HASEGAWA;
KEIICHIRO KAWASAKI;
YOSHIYUKI KOSAKA;
MASAFUMI MATSUO;
SATOSHI HIRASE;
TAKESHI MORI;
AKIRA HAYAKAWA;
KAZUMOTO IIJIMA;
HISAHIDE NISHIO;
NORIYUKI NISHIMURA

Publication type:

Article

The emergence of CD20-/CD19- tumor cells after rituximab therapy for Epstein-Barr virus-associated post-transplant lymphoproliferative disorder complicated with hemophagocytic lymphohistiocytosis.

Published in:

2014

By:

Yamamoto, Nobuyuki;
Nishimura, Noriyuki;
Takeuchi, Mai;
Ito, Tomoo;
Yokozaki, Hiroshi;
Hirase, Satoshi;
Kubokawa, Ikuko;
Mori, Takeshi;
Yanai, Tomoko;
Hayakawa, Akira;
Takeshima, Yasuhiro;
Nishio, Hisahide;
Matsuo, Masafumi;
Imadome, Ken-Ichi;
Iijima, Kazumoto

Publication type:

journal article

Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19.

Published in:

Pediatric Hematology & Oncology, 2021, v. 38, n. 6, p. 515, doi. 10.1080/08880018.2021.1887984

By:

Takafuji, Satoru;
Mori, Takeshi;
Nishimura, Noriyuki;
Yamamoto, Nobuyuki;
Uemura, Suguru;
Nozu, Kandai;
Terui, Kiminori;
Toki, Tsutomu;
Ito, Etsuro;
Muramatsu, Hideki;
Takahashi, Yoshiyuki;
Matsuo, Masafumi;
Yamamura, Tomohiko;
Iijima, Kazumoto

Publication type:

Article

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

Published in:

Pediatric Hematology & Oncology, 2010, v. 27, n. 5, p. 344, doi. 10.3109/08880011003739422

By:

Horinouchi, Masanori;
Yagi, Mariko;
Imanishi, Hiroyuki;
Mori, Takeshi;
Yanai, Tomoko;
Hayakawa, Akira;
Takeshima, Yasuhiro;
Hijioka, Michiyo;
Okamura, Noboru;
Sakaeda, Toshiyuki;
Matsuo, Masafumi;
Okumura, Katsuhiko;
Nakamura, Tsutomu

Publication type:

Article

Dystrophin Dp116: A Yet to Be Investigated Product of the Duchenne Muscular Dystrophy Gene.

Published in:

Genes, 2017, v. 8, n. 10, p. 251, doi. 10.3390/genes8100251

By:

Masafumi Matsuo;
Hiroyuki Awano;
Masaaki Matsumoto;
Masashi Nagai;
Tatsuya Kawaguchi;
Zhujun Zhang;
Hisahide Nishio

Publication type:

Article

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

Published in:

Genes, 2017, v. 8, n. 2, p. 67, doi. 10.3390/genes8020067

By:

Tomoko Lee;
Hiroyuki Awano;
Mariko Yagi;
Masaaki Matsumoto;
Nobuaki Watanabe;
Ryoya Goda;
Makoto Koizumi;
Yasuhiro Takeshima;
Masafumi Matsuo

Publication type:

Article

Significant Increase in the Number of the SMN2 Gene Copies in an Adult-Onset Type III Spinal Muscular Atrophy Patient with Homozygous Deletion of the NAIP Gene.

Published in:

European Neurology, 2004, v. 52, n. 2, p. 101, doi. 10.1159/000080140

By:

Yamashita, Mariko;
Nishio, Hisahide;
Harada, Yosuke;
Matsuo, Masafumi;
Yamamoto, Toru

Publication type:

Article

Culture-Proven Neonatal Sepsis in Japanese Neonatal Care Units in 2006-2008.

Published in:

Neonatology (16617800), 2012, v. 102, n. 1, p. 75, doi. 10.1159/000337833

By:

Morioka, Ichiro;
Morikawa, Satoru;
Miwa, Akihiro;
Minami, Hirotaka;
Yoshii, Katsuhiko;
Kugo, Masaaki;
Kitsunezuka, Yoshiki;
Enomoto, Miki;
Jikimoto, Takumi;
Nakamura, Masakuni;
Yokoyama, Naoki;
Nishio, Hisahide;
Matsuo, Masafumi;
Yamada, Hideto

Publication type:

Article

Hypoalbuminemia following Abdominal Surgery Leads to High Serum Unbound Bilirubin Concentrations in Newborns Soon after Birth.

Published in:

Neonatology (16617800), 2011, v. 99, n. 3, p. 202, doi. 10.1159/000314893

By:

Miwa, Akihiro;
Morioka, Ichiro;
Hisamatsu, Chieko;
Fujioka, Kazumichi;
Morikawa, Satoru;
Shibata, Akio;
Yasufuku, Masao;
Yokoyama, Naoki;
Matsuo, Masafumi

Publication type:

Article

Does thrombocytopenia contribute to patent ductus arteriosus?

Published in:

2011

By:

Fujioka, Kazumichi;
Morioka, Ichiro;
Miwa, Akihiro;
Morikawa, Satoru;
Shibata, Akio;
Yokoyama, Naoki;
Matsuo, Masafumi

Publication type:

Letter

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.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 2, p. 365, doi. 10.1210/jc.2005-1776

By:

Goji, Katsumi;
Ozaki, Kayo;
Sadewa, Ahmad H.;
Nishio, Hisahide;
Matsuo, Masafumi

Publication type:

Article

Novel Mutations in Aquaporin-2 Gene in Female Siblings with Nephrogenic Diabetes Insipidus: Evidence of Disrupted Water Channel Function.

Published in:

Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 9, p. 3205, doi. 10.1210/jcem.83.9.5074

By:

KATSUMI GOJI;
MICHIO KUWAHARA;
YONG GU;
MASAFUMI MATSUO;
FUMIAKI MARUMO;
SEI SASAKI

Publication type:

Article

Inhibiting Myostatin Expression by the Antisense Oligonucleotides Improves Muscle Wasting in a Chronic Kidney Disease Mouse Model.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 7, p. 3098, doi. 10.3390/ijms26073098

By:

Akhter, Arju;
Md. Sheikh, Abdullah;
Yoshino, Jun;
Kanda, Takeshi;
Nagai, Atsushi;
Matsuo, Masafumi;
Yano, Shozo

Publication type:

Article

30 Years Since the Proposal of Exon Skipping Therapy for Duchenne Muscular Dystrophy and the Future of Pseudoexon Skipping.

Published in:

2025

By:

Matsuo, Masafumi

Publication type:

Literature Review

Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity.

Published in:

Journal of Neurology, 2002, v. 249, n. 9, p. 1211, doi. 10.1007/s00415-002-0811-4

By:

Harada, Yosuke;
Sutomo, Retno;
Sadewa, Ahmad Hamim;
Akutsu, Tomoko;
Takeshima, Yasuhiro;
Wada, Hiroko;
Matsuo, Masafumi;
Nishio, Hisahide

Publication type:

Article

Bilateral Optic Disc Anomalies Associated with PAX2 Mutation in a Case of Potter Sequence.

Published in:

Case Reports in Ophthalmology, 2010, v. 1, n. 2, p. 94, doi. 10.1159/000321625

By:

Tagami, Mizuki;
Honda, Shigeru;
Morioka, Ichiro;
Matsuo, Masafumi;
Negi, Akira

Publication type:

Article

Duchenne and Becker Muscular Dystrophy: From Gene Diagnosis to Molecular Therapy.

Published in:

IUBMB Life, 2002, v. 53, n. 3, p. 147, doi. 10.1080/15216540212333

By:

Matsuo, Masafumi

Publication type:

Article

HEK293 cells express dystrophin Dp71 with nucleus-specific localization of Dp71ab.

Published in:

Histochemistry & Cell Biology, 2016, v. 146, n. 3, p. 301, doi. 10.1007/s00418-016-1439-2

By:

Nishida, Atsushi;
Yasuno, Sato;
Takeuchi, Atsuko;
Awano, Hiroyuki;
Lee, Tomoko;
Niba, Emma;
Fujimoto, Takahiro;
Itoh, Kyoko;
Takeshima, Yasuhiro;
Nishio, Hisahide;
Matsuo, Masafumi

Publication type:

Article

Tissue- and case-specific retention of intron 40 in mature dystrophin mRNA.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 6, p. 327, doi. 10.1038/jhg.2015.24

By:

Nishida, Atsushi;
Minegishi, Maki;
Takeuchi, Atsuko;
Niba, Emma Tabe Eko;
Awano, Hiroyuki;
Lee, Tomoko;
Iijima, Kazumoto;
Takeshima, Yasuhiro;
Matsuo, Masafumi

Publication type:

Article

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

Published in:

Journal of Human Genetics, 2014, v. 59, n. 8, p. 423, doi. 10.1038/jhg.2014.36

By:

Dwianingsih, Ery Kus;
Malueka, Rusdy Ghazali;
Nishida, Atsushi;
Itoh, Kyoko;
Tomoko Lee;
Mariko Yagi;
Iijima, Kazumoto;
Takeshima, Yasuhiro;
Matsuo, Masafumi

Publication type:

Article

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

Published in:

Journal of Human Genetics, 2014, v. 59, n. 1, p. 46, doi. 10.1038/jhg.2013.119

By:

Lee, Tomoko;
Takeshima, Yasuhiro;
Kusunoki, Noriko;
Awano, Hiroyuki;
Yagi, Mariko;
Matsuo, Masafumi;
Iijima, Kazumoto

Publication type:

Article

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.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 1, p. 33, doi. 10.1038/jhg.2012.131

By:

Thu Tran, Thi Hoai;
Zhang, Zhujun;
Yagi, Mariko;
Lee, Tomoko;
Awano, Hiroyuki;
Nishida, Atsushi;
Okinaga, Takeshi;
Takeshima, Yasuhiro;
Matsuo, Masafumi

Publication type:

Article

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

Published in:

Journal of Human Genetics, 2010, v. 55, n. 12, p. 785, doi. 10.1038/jhg.2010.111

By:

Awano, Hiroyuki;
Malueka, Rusdy Ghazali;
Yagi, Mariko;
Okizuka, Yo;
Takeshima, Yasuhiro;
Matsuo, Masafumi

Publication type:

Article

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

Published in:

Journal of Human Genetics, 2010, v. 55, n. 6, p. 379, doi. 10.1038/jhg.2010.49

By:

Takeshima, Yasuhiro;
Yagi, Mariko;
Okizuka, Yo;
Awano, Hiroyuki;
Zhang, Zhujun;
Yamauchi, Yumiko;
Nishio, Hisahide;
Matsuo, Masafumi

Publication type:

Article

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

Published in:

Journal of Human Genetics, 2009, v. 54, n. 8, p. 466, doi. 10.1038/jhg.2009.63

By:

Zhujun Zhang;
Yagi, Mariko;
Okizuka, Yo;
Awano, Hiroyuki;
Takeshima, Yasuhiro;
Matsuo, Masafumi

Publication type:

Article

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

Published in:

Journal of Human Genetics, 2008, v. 53, n. 3, p. 215, doi. 10.1007/s10038-007-0235-1

By:

Zhujun Zhang;
Takeshima, Yasuhiro;
Awano, Hiroyuki;
Nishiyama, Atsushi;
Okizuka, Yo;
Yagi, Mariko;
Matsuo, Masafumi

Publication type:

Article

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

Published in:

Journal of Human Genetics, 2007, v. 52, n. 7, p. 607, doi. 10.1007/s10038-007-0163-0

By:

Zhujun Zhang;
Habara, Yasuaki;
Nishiyama, Atsushi;
Oyazato, Yoshinobu;
Yagi, Mariko;
Takeshima, Yasuhiro;
Matsuo, Masafumi

Publication type:

Article

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

Published in:

Journal of Human Genetics, 2007, v. 52, n. 2, p. 166, doi. 10.1007/s10038-006-0096-z

By:

Imanishi, Hiroyuki;
Okamura, Noboru;
Yagi, Mariko;
Noro, Yukari;
Moriya, Yuka;
Nakamura, Tsutomu;
Hayakawa, Akira;
Takeshima, Yasuhiro;
Sakaeda, Toshiyuki;
Matsuo, Masafumi;
Okumura, Katsuhiko

Publication type:

Article

Prediction of systemic exposure to cyclosporine in Japanese pediatric patients.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 11, p. 969, doi. 10.1007/s10038-006-0048-7

By:

Sakaeda, Toshiyuki;
Iijima, Kazumoto;
Nozu, Kandai;
Nakamura, Tsutomu;
Moriya, Yuka;
Nishikawa, Mika;
Wada, Atsushi;
Okamura, Noboru;
Matsuo, Masafumi;
Okumura, Katsuhiko

Publication type:

Article

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

Published in:

Journal of Human Genetics, 2005, v. 50, n. 8, p. 425, doi. 10.1007/s10038-005-0272-6

By:

Tran, Van Khanh;
Zhujun Zhang;
Yagi, Mariko;
Nishiyama, Atsushi;
Habara, Yasuaki;
Takeshima, Yasuhiro;
Matsuo, Masafumi

Publication type:

Article

Genetic origins of the Ainu inferred from combined DNA analyses of maternal and paternal lineages.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 4, p. 187, doi. 10.1007/s10038-004-0131-x

By:

Tajima, Atsushi;
Hayami, Masanori;
Tokunaga, Katsushi;
Juji, Takeo;
Matsuo, Masafumi;
Marzuki, Sangkot;
Omoto, Keiichi;
Horai, Satoshi

Publication type:

Article

High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 12, p. 650, doi. 10.1007/s10038-003-0095-2

By:

Yusoff, Narazah Mohd;
Van Rostenberghe, Hans;
Shirakawa, Taku;
Nishiyama, Kaoru;
Amin, Noryati;
Darus, Zainal;
Zainal, Nik;
Isa, Nizam;
Nozu, Hiroyuki;
Matsuo, Masafumi

Publication type:

Article

The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.

Published in:

Journal of Human Genetics, 1998, v. 43, n. 1, p. 32, doi. 10.1007/s100380050033

By:

Fujimoto, M.;
Kantaputra, Piranit Nik;
Ikegawa, Shiro;
Fukushima, Yoshimitsu;
Sonta, Shin-ichi;
Matsuo, Masafumi;
Ishida, Takafumi;
Matsumoto, Tadashi;
Kondo, Shinji;
Tomita, Hiroaki;
Deng, Han-Xiang;
D'urso, Michele;
Rinaldi, Maria Michela;
Ventruto, Valerio;
Takagi, Toshihisa;
Nakamura, Yusuke;
Niikawa, Norio

Publication type:

Article

Detecting pathogenic deep intronic variants in Gitelman syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2576, doi. 10.1002/ajmg.a.62885

By:

Rossanti, Rini;
Horinouchi, Tomoko;
Sakakibara, Nana;
Yamamura, Tomohiko;
Nagano, China;
Ishiko, Shinya;
Aoto, Yuya;
Kondo, Atsushi;
Nagai, Sadayuki;
Awano, Hiroyuki;
Nagase, Hiroaki;
Matsuo, Masafumi;
Iijima, Kazumoto;
Nozu, Kandai

Publication type:

Article

SAP155-mediated c-myc suppressor far-upstream element-binding protein-interacting repressor splicing variants are activated in colon cancer tissues.

Published in:

Cancer Science, 2013, v. 104, n. 2, p. 149, doi. 10.1111/cas.12058

By:

Kajiwara, Toshiko;
Matsushita, Kazuyuki;
Itoga, Sakae;
Tamura, Mai;
Tanaka, Nobuko;
Tomonaga, Takeshi;
Matsubara, Hisahiro;
Shimada, Hideaki;
Habara, Yasuaki;
Matsuo, Masafumi;
Nomura, Fumio

Publication type:

Article

Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits.

Published in:

Respiration, 2018, v. 95, n. 2, p. 166, doi. 10.1159/000484209

By:

Tsuji, Yurika;
Nozu, Kandai;
Sofue, Tadashi;
Hara, Shigeo;
Nakanishi, Keita;
Yamamura, Tomohiko;
Minamikawa, Shogo;
Nozu, Yoshimi;
Kaito, Hiroshi;
Fujimura, Junya;
Horinouchi, Tomoko;
Morisada, Naoya;
Morioka, Ichiro;
Taniguchi-Ikeda, Mariko;
Matsuo, Masafumi;
Iijima, Kazumoto

Publication type:

Article

A sandwich ELISA kit reveals marked elevation of titin N‐terminal fragment levels in the urine of mdx mice.

Published in:

Animal Models & Experimental Medicine, 2022, v. 5, n. 1, p. 48, doi. 10.1002/ame2.12204

By:

Shirakawa, Taku;
Ikushima, Ayumu;
Maruyama, Nobuhiro;
Nambu, Yoshinori;
Awano, Hiroyuki;
Osawa, Kayo;
Nirasawa, Kei;
Negishi, Yoichi;
Nishio, Hisahide;
Fukushima, Shoji;
Matsuo, Masafumi

Publication type:

Article

In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.

Published in:

Human Genetics, 2009, v. 126, n. 4, p. 533, doi. 10.1007/s00439-009-0697-7

By:

Nozu, Kandai;
Iijima, Kazumoto;
Kawai, Kazuo;
Nozu, Yoshimi;
Nishida, Atsushi;
Takeshima, Yasuhiro;
Xue Jun Fu;
Hashimura, Yuya;
Kaito, Hiroshi;
Nakanishi, Koichi;
Yoshikawa, Norishige;
Matsuo, Masafumi

Publication type:

Article

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

Published in:

Human Genetics, 2006, v. 120, n. 5, p. 737, doi. 10.1007/s00439-006-0241-y

By:

Van Khanh Tran;
Takeshima, Yasuhiro;
Zhujun Zhang;
Habara, Yasuaki;
Haginoya, Kazuhiro;
Nishiyama, Atsushi;
Yagi, Mariko;
Matsuo, Masafumi

Publication type:

Article

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

Published in:

Human Genetics, 2006, v. 119, n. 5, p. 516, doi. 10.1007/s00439-006-0159-4

By:

Katayama, Yoshinori;
Tran, Van;
Hoan, Nguyen;
Zhang, Zhujun;
Goji, Katsumi;
Yagi, Mariko;
Takeshima, Yasuhiro;
Saiki, Kayoko;
Nhan, Nguyen;
Matsuo, Masafumi

Publication type:

Article

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

Published in:

Human Genetics, 2004, v. 115, n. 2, p. 97, doi. 10.1007/s00439-004-1139-1

By:

Morisawa, Takeshi;
Yagi, Mariko;
Surono, Agus;
Yokoyama, Naoki;
Ohmori, Makoto;
Terashi, Hiroto;
Matsuo, Masafumi

Publication type:

Article

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.

Published in:

Human Genetics, 2003, v. 112, n. 2, p. 164, doi. 10.1007/s00439-002-0854-8

By:

Yagi, Mariko;
Takeshima, Yasuhiro;
Wada, Hiroko;
Nakamura, Hajime;
Matsuo, Masafumi

Publication type:

Article