1. Zhuang, Jianlong, Luo, Qi, Xie, Meihua, Xie, Yingjun, Chen, Chunnuan. 2022. Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature review. In Molecular genetics & genomic medicine, 11, e2121. doi:10.1002/mgg3.2121. https://pubmed.ncbi.nlm.nih.gov/36504312/
2. König, A, Happle, R, Bornholdt, D, Engel, H, Grzeschik, K H. . Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. In American journal of medical genetics, 90, 339-46. doi:. https://pubmed.ncbi.nlm.nih.gov/10710235/
3. Gabitova-Cornell, Linara, Surumbayeva, Aizhan, Peri, Suraj, Cukierman, Edna, Astsaturov, Igor. 2020. Cholesterol Pathway Inhibition Induces TGF-β Signaling to Promote Basal Differentiation in Pancreatic Cancer. In Cancer cell, 38, 567-583.e11. doi:10.1016/j.ccell.2020.08.015. https://pubmed.ncbi.nlm.nih.gov/32976774/
4. Bauer, Anina, De Lucia, Michela, Jagannathan, Vidhya, Welle, Monika M, Leeb, Tosso. 2017. A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder. In G3 (Bethesda, Md.), 7, 3115-3121. doi:10.1534/g3.117.1124. https://pubmed.ncbi.nlm.nih.gov/28739597/
5. De Lucia, Michela, Bauer, Anina, Spycher, Melina, Welle, Monika, Leeb, Tosso. 2018. Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi. In Veterinary dermatology, 30, 64-e18. doi:10.1111/vde.12699. https://pubmed.ncbi.nlm.nih.gov/30474267/
6. Zhang, Haiyan, Li, Chengping, Xin, Youzhi, Cui, Jianwei, Zhou, Guoli. 2020. Suppression of NSDHL attenuates adipogenesis with a downregulation of LXR-SREBP1 pathway in 3T3-L1 cells. In Bioscience, biotechnology, and biochemistry, 84, 980-988. doi:10.1080/09168451.2020.1719823. https://pubmed.ncbi.nlm.nih.gov/31985358/
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