Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling
Sclerosing bone disorder (SBD) includes a broad spectrum of monogenic diseases characterised by increased bone density. Here, the authors describe a previously unknown SBD in four families caused by mutations in TMEM53 and demonstrate the role this protein plays in BMP signalling during bone formati...
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| Format: | Article |
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Nature Publishing Group
2021-04-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-021-22340-8 |
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doaj-39666f07f5524b20abbe44216deb698c2021-04-11T11:11:49ZengNature Publishing GroupNature Communications2041-17232021-04-0112111310.1038/s41467-021-22340-8Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signalingLong Guo0Aritoshi Iida1Gandham SriLakshmi Bhavani2Kalpana Gowrishankar3Zheng Wang4Jing-yi Xue5Juan Wang6Noriko Miyake7Naomichi Matsumoto8Takanori Hasegawa9Yusuke Iizuka10Masashi Matsuda11Tomoki Nakashima12Masaki Takechi13Sachiko Iseki14Shinsei Yambe15Gen Nishimura16Haruhiko Koseki17Chisa Shukunami18Katta M. Girisha19Shiro Ikegawa20Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical SciencesLaboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical SciencesDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher EducationKanchi Kamakoti CHILDS Trust HospitalLaboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical SciencesLaboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical SciencesLaboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical SciencesDepartment of Human Genetics, Yokohama City University Graduate School of MedicineDepartment of Human Genetics, Yokohama City University Graduate School of MedicineLaboratory for Developmental Genetics, RIKEN Center for Integrative Medical SciencesLaboratory for Developmental Genetics, RIKEN Center for Integrative Medical SciencesLaboratory for Developmental Genetics, RIKEN Center for Integrative Medical SciencesDepartment of Cell Signaling, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental UniversityDepartment of Molecular Craniofacial Embryology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental UniversityDepartment of Molecular Craniofacial Embryology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental UniversityDepartment of Molecular Biology and Biochemistry, Graduate School of Biomedical and Health Sciences, Hiroshima UniversityLaboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical SciencesLaboratory for Developmental Genetics, RIKEN Center for Integrative Medical SciencesDepartment of Molecular Biology and Biochemistry, Graduate School of Biomedical and Health Sciences, Hiroshima UniversityDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher EducationLaboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical SciencesSclerosing bone disorder (SBD) includes a broad spectrum of monogenic diseases characterised by increased bone density. Here, the authors describe a previously unknown SBD in four families caused by mutations in TMEM53 and demonstrate the role this protein plays in BMP signalling during bone formation.https://doi.org/10.1038/s41467-021-22340-8 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Long Guo Aritoshi Iida Gandham SriLakshmi Bhavani Kalpana Gowrishankar Zheng Wang Jing-yi Xue Juan Wang Noriko Miyake Naomichi Matsumoto Takanori Hasegawa Yusuke Iizuka Masashi Matsuda Tomoki Nakashima Masaki Takechi Sachiko Iseki Shinsei Yambe Gen Nishimura Haruhiko Koseki Chisa Shukunami Katta M. Girisha Shiro Ikegawa |
| spellingShingle |
Long Guo Aritoshi Iida Gandham SriLakshmi Bhavani Kalpana Gowrishankar Zheng Wang Jing-yi Xue Juan Wang Noriko Miyake Naomichi Matsumoto Takanori Hasegawa Yusuke Iizuka Masashi Matsuda Tomoki Nakashima Masaki Takechi Sachiko Iseki Shinsei Yambe Gen Nishimura Haruhiko Koseki Chisa Shukunami Katta M. Girisha Shiro Ikegawa Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling Nature Communications |
| author_facet |
Long Guo Aritoshi Iida Gandham SriLakshmi Bhavani Kalpana Gowrishankar Zheng Wang Jing-yi Xue Juan Wang Noriko Miyake Naomichi Matsumoto Takanori Hasegawa Yusuke Iizuka Masashi Matsuda Tomoki Nakashima Masaki Takechi Sachiko Iseki Shinsei Yambe Gen Nishimura Haruhiko Koseki Chisa Shukunami Katta M. Girisha Shiro Ikegawa |
| author_sort |
Long Guo |
| title |
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling |
| title_short |
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling |
| title_full |
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling |
| title_fullStr |
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling |
| title_full_unstemmed |
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling |
| title_sort |
deficiency of tmem53 causes a previously unknown sclerosing bone disorder by dysregulation of bmp-smad signaling |
| publisher |
Nature Publishing Group |
| series |
Nature Communications |
| issn |
2041-1723 |
| publishDate |
2021-04-01 |
| description |
Sclerosing bone disorder (SBD) includes a broad spectrum of monogenic diseases characterised by increased bone density. Here, the authors describe a previously unknown SBD in four families caused by mutations in TMEM53 and demonstrate the role this protein plays in BMP signalling during bone formation. |
| url |
https://doi.org/10.1038/s41467-021-22340-8 |
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