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Rapid Communication | Open Access

The MTMR11 variants identified in a short stature cohort compromise the dephosphorylation ability of MTM1 on SMAD5 to up-regulate BMP signaling

Kai Yanga, Hongdou Lia, Rui Penga, Bo Wub, Yiping Shenc, Tongjin Zhaod, Chentao Lie, Weimin Wangf( ), Hongyan Wanga,b,g( )
Obstetrics & Gynecology Hospital, State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai 200032, China
Prenatal Diagnosis Center of Shenzhen Maternity & Child Healthcare Hospital, Shenzhen, Guangdong 518028, China
Genetic and Metabolic Central Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530003, China
Shanghai Key Laboratory of Metabolic Remodeling and Health, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai 200438, China
Shanghai Medical College, Fudan University, Shanghai 200032, China
Department of Pharmacy College of Life Sciences, China Jiliang University, Hangzhou, Zhejiang 310018, China
Children’s Hospital, Fudan University, Shanghai 201102, China

Peer review under the responsibility of the Genes & Diseases Editorial Office, in alliance with the Association of Chinese Americans in Cancer Research (ACACR, Baltimore, MD, USA).

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Genes & Diseases
Volume 12 Issue 4,
July 2025
Article number: 101393
DOI: 10.1016/j.gendis.2024.101393

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Yang K, Li H, Peng R, et al. The MTMR11 variants identified in a short stature cohort compromise the dephosphorylation ability of MTM1 on SMAD5 to up-regulate BMP signaling. Genes & Diseases, 2025, 12(4): 101393. https://doi.org/10.1016/j.gendis.2024.101393

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Received: 22 February 2024
Published: 21 August 2024
© 2024 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).