1. Shin, Jun-Oh, Roh, Dongyoung, Shin, Kihyuk, Kim, Moon-Bum, Ko, Hyun-Chang. 2022. A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome. In Annals of dermatology, 34, 59-62. doi:10.5021/ad.2022.34.1.59. https://pubmed.ncbi.nlm.nih.gov/35221597/
2. Tibbo, Amy J, Hartley, Andrew, Vasan, Richa, Leung, Hing Y, Ahmad, Imran. 2023. MBTPS2 acts as a regulator of lipogenesis and cholesterol synthesis through SREBP signalling in prostate cancer. In British journal of cancer, 128, 1991-1999. doi:10.1038/s41416-023-02237-7. https://pubmed.ncbi.nlm.nih.gov/36991255/
3. Jovanovic, Milena, Guterman-Ram, Gali, Marini, Joan C. . Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types. In Endocrine reviews, 43, 61-90. doi:10.1210/endrev/bnab017. https://pubmed.ncbi.nlm.nih.gov/34007986/
4. Liu, Yongliang, Xu, Dayu, Wang, Linping, Zhang, Limei, Xiang, Xinxin. 2020. MBTPS2 exacerbates albuminuria in streptozotocin-induced type I diabetic nephropathy by promoting endoplasmic reticulum stress-mediated renal damage. In Archives of physiology and biochemistry, 128, 1050-1057. doi:10.1080/13813455.2020.1749084. https://pubmed.ncbi.nlm.nih.gov/32255378/
5. Zhang, J, Wang, Y, Cheng, R, Li, M, Yao, Z. . Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature. In Clinical and experimental dermatology, 41, 757-60. doi:10.1111/ced.12889. https://pubmed.ncbi.nlm.nih.gov/27663151/
6. Jovanovic, Milena, Marini, Joan C. 2024. Update on the Genetics of Osteogenesis Imperfecta. In Calcified tissue international, 115, 891-914. doi:10.1007/s00223-024-01266-5. https://pubmed.ncbi.nlm.nih.gov/39127989/
7. Jiang, Yanyun, Jin, Hongzhong, Zeng, Yueping. 2019. A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome. In Molecular genetics & genomic medicine, 7, e812. doi:10.1002/mgg3.812. https://pubmed.ncbi.nlm.nih.gov/31215178/
8. Danyukova, Tatyana, Alimy, Assil-Ramin, Velho, Renata Voltolini, Rolvien, Tim, Pohl, Sandra. 2023. Mice heterozygous for an osteogenesis imperfecta-linked MBTPS2 variant display a compromised subchondral osteocyte lacunocanalicular network associated with abnormal articular cartilage. In Bone, 177, 116927. doi:10.1016/j.bone.2023.116927. https://pubmed.ncbi.nlm.nih.gov/37797712/