M
Masato Tsukahara
Researcher at Yamaguchi University
Publications - 108
Citations - 2867
Masato Tsukahara is an academic researcher from Yamaguchi University. The author has contributed to research in topics: Bartonella henselae & Cat-scratch disease. The author has an hindex of 26, co-authored 108 publications receiving 2741 citations.
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Journal ArticleDOI
Haploinsufficiency of NSD1 causes Sotos syndrome
Naohiro Kurotaki,Kiyoshi Imaizumi,Naoki Harada,Mitsuo Masuno,Tatsuro Kondoh,Toshiro Nagai,Hirofumi Ohashi,Kenji Naritomi,Masato Tsukahara,Yoshio Makita,Tateo Sugimoto,Tohru Sonoda,Tomoko Hasegawa,Yasuaki Chinen,Hiroaki Tomita,Akira Kinoshita,Tsuyoshi Mizuguchi,Koh-ichiro Yoshiura,Tohru Ohta,Tatsuya Kishino,Yoshimitsu Fukushima,Norio Niikawa,Naomichi Matsumoto +22 more
TL;DR: The results indicate that haploinsufficiency of NSD1 is the major cause of Sotos syndrome.
Journal ArticleDOI
Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III
H.-J. Lüdecke,J. Schaper,Peter Meinecke,P. Momeni,Stephanie Groß,D. von Holtum,H. Hirche,Marc Abramowicz,Beate Albrecht,C. Apacik,H.-J. Christen,Uwe Claussen,Koenraad Devriendt,E. Fastnacht,A. Forderer,Ursula Friedrich,Timothy H.J. Goodship,M. Greiwe,Henning Hamm,Raoul C.M. Hennekam,Georg Klaus Hinkel,Maria Hoeltzenbein,Hülya Kayserili,Frank Majewski,Michèle Mathieu,R. McLeod,Alina T. Midro,Ute Moog,Toshiro Nagai,Norio Niikawa,Karen Helene Ørstavik,E. Plöchl,Cornelia S. Seitz,Joerg Schmidtke,Lisbeth Tranebjærg,Masato Tsukahara,Bärbel Wittwer,Bernhard Zabel,Gabriele Gillessen-Kaesbach,B. Horsthemke +39 more
TL;DR: The data indicate that TRPS III is at the severe end of theTRPS spectrum and that it is most often caused by a specific class of mutations in the TRPS1 gene.
Journal ArticleDOI
Dispermic origin of XY hydatidiform moles
Koso Ohama,Tadashi Kajii,Etsuji Okamoto,Yasuhiko Fukuda,Kiyoshi Imaizumi,Masato Tsukahara,Kunihiko Kobayashi,Keiji Hagiwara +7 more
TL;DR: A study of four XY moles is described, and evidence that they result from the fertilization of an empty egg by two haploid spermatozoa is provided.
Journal ArticleDOI
Cat scratch disease: analysis of 130 seropositive cases
Kyoko Murakami,Masato Tsukahara,Hidehiro Tsuneoka,Hidechika Iino,Chizuru Ishida,Kumiko Tsujino,Akiko Umeda,Tomoko Furuya,Shigeto Kawauchi,Kohsuke Sasaki +9 more
TL;DR: The indirect fluorescent antibody (IFA) test to detect Bartonella species may provide a prompt diagnosis of CSD and facilitate appropriate therapy and suggest that CSD is not a rare disease in Japan.
Journal ArticleDOI
Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.
Hiroshi Yoshihashi,Katsuhiro Maeyama,Rika Kosaki,Tsutomu Ogata,Masato Tsukahara,Yu Ichi Goto,Jun-ichi Hata,Nobutake Matsuo,Robert J. Smith,Kenjiro Kosaki +9 more
TL;DR: It is demonstrated that the GRB10 gene is also monoallelically expressed in human fetal brain tissues and is transcribed from the maternally derived allele in somatic-cell hybrids, Hence, human GRB 10 is imprinted.