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Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.
Kaname, Tadashi; Ki, Chang-Seok; Niikawa, Norio; Baillie, George S; Day, Jonathan P; Yamamura, Ken-Ichi; Ohta, Tohru; Nishimura, Gen; Mastuura, Nobuo; Kim, Ok-Hwa; Sohn, Young Bae; Kim, Hyun Woo; Cho, Sung Yoon; Ko, Ah-Ra; Lee, Jin Young; Kim, Hyun Wook; Ryu, Sung Ho; Rhee, Hwanseok; Yang, Kap-Seok; Joo, Keehyoung; Lee, Jooyoung; Kim, Chi Hwa; Cho, Kwang-Hyun; Kim, Dongsan; Yanagi, Kumiko; Naritomi, Kenji; Yoshiura, Ko-Ichiro; Kondoh, Tatsuro; Nii, Eiji; Tonoki, Hidefumi; Houslay, Miles D; Jin, Dong-Kyu.
Afiliación
  • Kaname T; Department of Medical Genetics, University of the Ryukyus Graduate School of Medicine, Okinawa, Japan.
  • Ki CS; Department of Laboratory Medicine and Genetics, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
  • Niikawa N; Health Sciences University of Hokkaido, Hokkaido, Japan.
  • Baillie GS; Institute of Cardiovascular and Medical Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, UK.
  • Day JP; Department of Genetics, University of Cambridge, Cambridge, UK.
  • Yamamura K; Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan.
  • Ohta T; Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Hokkaido, Japan.
  • Nishimura G; Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
  • Mastuura N; Seitoku University, Chiba, Japan.
  • Kim OH; Department of Radiology, Gachon University Gil Medical Center, Incheon, Republic of Korea.
  • Sohn YB; Department of Medical Genetics Ajou University Hospital, Ajou University School of Medicine, Suwon, Republic of Korea.
  • Kim HW; Department of Orthopedic Surgery, Yonsei University College of Medicine, Seoul, Republic of Korea.
  • Cho SY; Department of Pediatrics Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
  • Ko AR; Clinical Research Center, Samsung Biomedical Research Institute, Seoul, Republic of Korea.
  • Lee JY; Clinical Research Center, Samsung Biomedical Research Institute, Seoul, Republic of Korea.
  • Kim HW; Department of Life Sciences, Pohang University of Science and Technology, Pohang, Republic of Korea.
  • Ryu SH; Department of Life Sciences, Pohang University of Science and Technology, Pohang, Republic of Korea; Division of Integrative Biosciences and Biotechnology and School of Interdisciplinary Bioscience and Bioengineering, Pohang University of Science and Technology, Pohang, Republic of Korea.
  • Rhee H; Macrogen Inc., Seoul, Republic of Korea.
  • Yang KS; Macrogen Inc., Seoul, Republic of Korea.
  • Joo K; Center for In Silico Protein Science, Korea Institute for Advanced Study, Republic of Korea; Center for Advanced Computation, Korea Institute for Advanced Study, Republic of Korea.
  • Lee J; Center for In Silico Protein Science, Korea Institute for Advanced Study, Republic of Korea; Center for Advanced Computation, Korea Institute for Advanced Study, Republic of Korea; School of Computational Sciences, Korea Institute for Advanced Study, Republic of Korea.
  • Kim CH; Mogam Biotechnology Research Institute, Yongin, Republic of Korea.
  • Cho KH; Department of Bio and Brain Engineering, Korea Advanced Institute of Science and Technology (KAIST), Republic of Korea.
  • Kim D; Department of Bio and Brain Engineering, Korea Advanced Institute of Science and Technology (KAIST), Republic of Korea.
  • Yanagi K; Department of Medical Genetics, University of the Ryukyus Graduate School of Medicine, Okinawa, Japan.
  • Naritomi K; Department of Medical Genetics, University of the Ryukyus Graduate School of Medicine, Okinawa, Japan.
  • Yoshiura K; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
  • Kondoh T; Division of Developmental Disabilities, The Misakaenosono Mutsumi Developmental, Medical and Welfare Center, Isahaya, Japan.
  • Nii E; Department of Orthopaedic Surgery, Mie Prefectural Kusanomi Rehabilitation Center, Tsu, Japan.
  • Tonoki H; Section of Clinical Genetics, Department of Pediatrics, Tenshi Hospital, Sapporo, Japan.
  • Houslay MD; Institute of Pharmaceutical Science, King's College, London, UK.
  • Jin DK; Department of Pediatrics Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Electronic address: jindk@skku.edu.
Cell Signal ; 26(11): 2446-59, 2014 Nov.
Article en En | MEDLINE | ID: mdl-25064455
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Sistemas de Mensajero Secundario / Mutación Missense / Disostosis / Fosfodiesterasas de Nucleótidos Cíclicos Tipo 4 / Simulación del Acoplamiento Molecular / Heterocigoto / Discapacidad Intelectual Tipo de estudio: Clinical_trials / Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Cell Signal Año: 2014 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Sistemas de Mensajero Secundario / Mutación Missense / Disostosis / Fosfodiesterasas de Nucleótidos Cíclicos Tipo 4 / Simulación del Acoplamiento Molecular / Heterocigoto / Discapacidad Intelectual Tipo de estudio: Clinical_trials / Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Cell Signal Año: 2014 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido