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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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/39666f07f5524b20abbe44216deb698c
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spelling	oai:doaj.org-article:39666f07f5524b20abbe44216deb698c2021-12-02T14:17:29ZDeficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling10.1038/s41467-021-22340-82041-1723https://doaj.org/article/39666f07f5524b20abbe44216deb698c2021-04-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-22340-8https://doaj.org/toc/2041-1723Sclerosing 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.Long GuoAritoshi IidaGandham SriLakshmi BhavaniKalpana GowrishankarZheng WangJing-yi XueJuan WangNoriko MiyakeNaomichi MatsumotoTakanori HasegawaYusuke IizukaMasashi MatsudaTomoki NakashimaMasaki TakechiSachiko IsekiShinsei YambeGen NishimuraHaruhiko KosekiChisa ShukunamiKatta M. GirishaShiro IkegawaNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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
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.
format	article
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
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 Portfolio
publishDate	2021
url	https://doaj.org/article/39666f07f5524b20abbe44216deb698c
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Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

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