Sökresultat - Hiroshi Kitoh
- Visas 1 - 10 av 10 resultat
-
1
-
2
Meclozine Promotes Longitudinal Skeletal Growth in Transgenic Mice with Achondroplasia Carrying a Gain-of-Function Mutation in the FGFR3 Gene av Masaki Matsushita, Satoru Hasegawa, Hiroshi Kitoh, Kensaku Mori, Bisei Ohkawara, Akihiro Yasoda, Akio Masuda, Naoki Ishiguro, Kinji Ohno
Publicerad 2014Artigo -
3
Meclozine Facilitates Proliferation and Differentiation of Chondrocytes by Attenuating Abnormally Activated FGFR3 Signaling in Achondroplasia av Masaki Matsushita, Hiroshi Kitoh, Bisei Ohkawara, Kenichi Mishima, Hiroshi Kaneko, Mikako Ito, Akio Masuda, Naoki Ishiguro, Kinji Ohno
Publicerad 2013Artigo -
4
-
5
-
6
Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by <i>TRPV4</i> mutations av Gen Nishimura, Jin Dai, Ekkehart Lausch, Sheila Unger, André Mégarbané, Hiroshi Kitoh, Ok Hwa Kim, Tae‐Joon Cho, F. Bedeschi, Francesco Benedicenti, Roberto Mendoza‐Londono, Margherita Silengo, Maren Schmidt‐Rimpler, Jürgen W. Spranger, Bernhard Zabel, Shiro Ikegawa, Andrea Superti‐Furga
Publicerad 2010Artigo -
7
Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy av Julie Hoover‐Fong, Nara Sobreira, Julie A. Jurgens, Peggy Modaff, Carrie L. Blout Zawatsky, Ann B. Moser, Ok-Hwa Kim, Tae‐Joon Cho, Sung Yoon Cho, Sang Jin Kim, Dong‐Kyu Jin, Hiroshi Kitoh, Woong‐Yang Park, Hua Ling, Kurt N. Hetrick, Kimberly F. Doheny, David Valle, Richard M. Pauli
Publicerad 2014Artigo -
8
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders av Masahiro Nakajima, Shuji Mizumoto, Noriko Miyake, Ryo Kogawa, Aritoshi Iida, Hironori Ito, Hiroshi Kitoh, Aya Hirayama, Hiroshi Mitsubuchi, Osamu Miyazaki, Rika Kosaki, Reiko Horikawa, Angeline Lai, Roberto Mendoza‐Londono, Lucie Dupuis, David Chitayat, Andrew Howard, Gabriela Ferraz Leal, Denise P. Cavalcanti, Yoshinori Tsurusaki, Hirotomo Saitsu, Shigehiko Watanabe, Ekkehart Lausch, Sheila Unger, Luisa Bonafé, Hirofumi Ohashi, Andrea Superti‐Furga, Naomichi Matsumoto, Kazuyuki Sugahara, Gen Nishimura, Shiro Ikegawa
Publicerad 2013Artigo -
9
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family av Jin Dai, O.-H. Kim, T.-J. Cho, Maren Schmidt‐Rimpler, H. Tonoki, Kazuharu Takikawa, Nobuhiko Haga, K. Miyoshi, Hiroshi Kitoh, Won Joon Yoo, In Ho Choi, Hae‐Ryong Song, Dong‐Kyu Jin, H. T. Kim, Hotaka Kamasaki, Paola Bianchi, Giedre Grigelioniené, Sheela Nampoothiri, Masahiro Minagawa, Shinichirou Miyagawa, Toshiyuki Fukao, Carlo Marcelis, M. C. E. Jansweijer, R Hennekam, F. Bedeschi, Aki Mustonen, Qing Jiang, Hirofumi Ohashi, Tatsuya Furuichi, Sheila Unger, Bernhard Zabel, Ekkehart Lausch, Andrea Superti‐Furga, Gen Nishimura, Shiro Ikegawa
Publicerad 2010Artigo -
10
Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias av Carine Le Goff, Clémentine Mahaut, Lauren W. Wang, Slimane Allali, Avinash Abhyankar, Sacha A. Jensen, Louise Zylberberg, Gwenaëlle Collod‐Béroud, Damien Bonnet, Yasemin Alanay, Angela F. Brady, Marie‐Pierre Cordier, Koenraad Devriendt, David Geneviève, Pelin Özlem Şimşek‐Kiper, Hiroshi Kitoh, Deborah Krakow, Sally Ann Lynch, M Le Merrer, André Mégarbané, Geert Mortier, Sylvie Odent, Michel Polak, Marianne Rohrbach, David Sillence, Irene Stolte‐Dijkstra, Andrea Superti‐Furga, David L. Rimoin, Vicken Topouchian, Sheila Unger, Bernhard Zabel, Christine Bôle‐Feysot, Patrick Nitschké, Penny A. Handford, Jean‐Laurent Casanova, Cathérine Boileau, Suneel Apte, Arnold Münnich, Valérie Cormier‐Daire
Publicerad 2011Artigo
Sökverktyg:
Relaterade ämnen
Biology
Genetics
Gene
Medicine
Mutation
Phenotype
Receptor
Dysplasia
Internal medicine
Anatomy
Cell biology
Endocrinology
Pathology
Achondroplasia
Biochemistry
Cancer research
Dwarfism
Exon
Fibroblast growth factor
Fibroblast growth factor receptor 3
Genotype
Ion channel
Short stature
TRPV4
Alkaline phosphatase
Andrology
Arachnodactyly
Bone marrow
Cartilage
Chemistry