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

**Authors:** Kai Yang, Hongdou Li, Rui Peng, Bo Wu, Yiping Shen, Tongjin Zhao, Chentao Li, Weimin Wang, Hongyan Wang

PMC · DOI: 10.1016/j.gendis.2024.101393 · Genes & Diseases · 2024-08-21

## Full-text entities

- **Genes:** BMP1 (bone morphogenetic protein 1) [NCBI Gene 649] {aka OI13, PCOLC, PCP, TLD}, SMAD5 (SMAD family member 5) [NCBI Gene 4090] {aka DWFC, JV5-1, MADH5}, MTMR11 (myotubularin related protein 11) [NCBI Gene 10903] {aka CRA}, MTM1 (myotubularin 1) [NCBI Gene 4534] {aka CNM, CNMX, MTMX, XLMTM}
- **Diseases:** short stature (MESH:D006130)

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Source: https://tomesphere.com/paper/PMC11999603