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Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
Guo, Long; Iida, Aritoshi; Bhavani, Gandham SriLakshmi; Gowrishankar, Kalpana; Wang, Zheng; Xue, Jing-Yi; Wang, Juan; Miyake, Noriko; Matsumoto, Naomichi; Hasegawa, Takanori; Iizuka, Yusuke; Matsuda, Masashi; Nakashima, Tomoki; Takechi, Masaki; Iseki, Sachiko; Yambe, Shinsei; Nishimura, Gen; Koseki, Haruhiko; Shukunami, Chisa; Girisha, Katta M; Ikegawa, Shiro.
Affiliation
  • Guo L; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan. longguo601@gmail.com.
  • Iida A; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Bhavani GS; Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
  • Gowrishankar K; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Wang Z; Kanchi Kamakoti CHILDS Trust Hospital, Tamil Nadu, India.
  • Xue JY; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Wang J; Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Miyake N; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Hasegawa T; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Iizuka Y; Department of Ultrasound, The Second Affiliated Hospital, Medical School of Xi'an Jiaotong University, Xi'an, China.
  • Matsuda M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Nakashima T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Takechi M; Laboratory for Developmental Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
  • Iseki S; Laboratory for Developmental Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
  • Yambe S; Laboratory for Developmental Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
  • Nishimura G; Department of Cell Signaling, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Koseki H; Department of Molecular Craniofacial Embryology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Shukunami C; Department of Molecular Craniofacial Embryology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Girisha KM; Department of Molecular Biology and Biochemistry, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
  • Ikegawa S; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
Nat Commun ; 12(1): 2046, 2021 04 06.
Article in En | MEDLINE | ID: mdl-33824347
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sclerosis / Bone and Bones / Signal Transduction / Bone Morphogenetic Proteins / Smad Proteins / Membrane Proteins Type of study: Etiology_studies Limits: Adult / Animals / Child / Child, preschool / Female / Humans / Male Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2021 Document type: Article Affiliation country: Japan Country of publication: United kingdom
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sclerosis / Bone and Bones / Signal Transduction / Bone Morphogenetic Proteins / Smad Proteins / Membrane Proteins Type of study: Etiology_studies Limits: Adult / Animals / Child / Child, preschool / Female / Humans / Male Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2021 Document type: Article Affiliation country: Japan Country of publication: United kingdom