1. Hartal-Benishay, Liat H, Saadi, Esraa, Toubiana, Shir, Selig, Sara, Barki-Harrington, Liza. 2022. MBTPS1 regulates proliferation of colorectal cancer primarily through its action on sterol regulatory element-binding proteins. In Frontiers in oncology, 12, 1004014. doi:10.3389/fonc.2022.1004014. https://pubmed.ncbi.nlm.nih.gov/36300096/
2. Gorski, Jeff P, Huffman, Nichole T, Vallejo, Julian, Bonewald, Lynda, Brotto, Marco. 2015. Deletion of Mbtps1 (Pcsk8, S1p, Ski-1) Gene in Osteocytes Stimulates Soleus Muscle Regeneration and Increased Size and Contractile Force with Age. In The Journal of biological chemistry, 291, 4308-22. doi:10.1074/jbc.M115.686626. https://pubmed.ncbi.nlm.nih.gov/26719336/
3. Tadros, Haidy, Seidah, Nabil G, Chrétien, Michel, Mbikay, Majambu. . Genetic mapping of the gene for SKI-1/S1P protease (locus symbol Mbtps1) to mouse chromosome 8. In DNA sequence : the journal of DNA sequencing and mapping, 13, 109-11. doi:. https://pubmed.ncbi.nlm.nih.gov/12180344/
4. Raggio, Víctor, Rodríguez, Soledad, Feder, Sandra, Gueçaimburú, Rosario, Spangenberg, Lucía. 2024. Exome Sequencing Reveals Biallelic Mutations in MBTPS1 Gene in a Girl with a Very Rare Skeletal Dysplasia. In Diagnostics (Basel, Switzerland), 14, . doi:10.3390/diagnostics14030313. https://pubmed.ncbi.nlm.nih.gov/38337829/
5. Yuan, Yeqing, Zhou, Qiaoli, Wang, Chunli, Gu, Wei, Zheng, Bixia. 2023. Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant. In Frontiers in pediatrics, 10, 1056141. doi:10.3389/fped.2022.1056141. https://pubmed.ncbi.nlm.nih.gov/36714646/
6. Meyer, Robert, Elbracht, Miriam, Opladen, Thomas, Eggermann, Thomas. 2020. Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome. In American journal of medical genetics. Part A, 182, 2727-2730. doi:10.1002/ajmg.a.61833. https://pubmed.ncbi.nlm.nih.gov/32857899/
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