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Select item 109332641.

Inhibition of 7-dehydrocholesterol reductase prevents hepatic ferroptosis under an active state of sterol synthesis

Naoya Yamada, Tadayoshi Karasawa, Junya Ito, Daisuke Yamamuro, Kazushi Morimoto, Toshitaka Nakamura, Takanori Komada, Chintogtokh Baatarjav, Yuma Saimoto, Yuka Jinnouchi, Kazuhisa Watanabe, Kouichi Miura, Naoya Yahagi, Kiyotaka Nakagawa, Takayoshi Matsumura, Ken-ichi Yamada, Shun Ishibashi, Naohiro Sata, Marcus Conrad, Masafumi Takahashi

Nat Commun. 2024; 15: 2195. Published online 2024 Mar 12. doi: 10.1038/s41467-024-46386-6

PMCID:: PMC10933264

Article PDF–2.0M

Select item 98856272.

Integrated multi-dimensional analysis highlights DHCR7 mutations involving in cholesterol biosynthesis and contributing therapy of gastric cancer

Yuqi Chen, Wenying Yan, Kexi Yang, Yiting Qian, Yanjun Chen, Ruoqin Wang, Jinghan Zhu, Yuxin He, Hongya Wu, Guangbo Zhang, Tongguo Shi, Weichang Chen

J Exp Clin Cancer Res. 2023; 42: 36. Published online 2023 Jan 30. doi: 10.1186/s13046-023-02611-6

PMCID:: PMC9885627

Article PDF–11M

Select item 95084583.

High DHCR7 Expression Predicts Poor Prognosis for Cervical Cancer

Jing Zou, Sha Liu, Jian Long, Bingbing Yan

Comput Math Methods Med. 2022; 2022: 8383885. Published online 2022 Sep 16. doi: 10.1155/2022/8383885

PMCID:: PMC9508458

Article PDF–4.9M

Select item 73167384.

Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?

Hagit Daum, Vardiella Meiner, Rachel Michaelson-Cohen, Rivka Sukenik-Halevy, Michal Levy Zalcberg, Anat Bar-Ziv, A. Tzvi Weiden, Sholem Y. Scher, Mordechai Shohat, Joël Zlotogora

Eur J Hum Genet. 2020 Jul; 28(7): 938–942. Published online 2020 Feb 13. doi: 10.1038/s41431-020-0577-0

PMCID:: PMC7316738

Article PDF–407K

Select item 67236055.

Association of Vitamin D Pathway Genetic Variation and Thyroid Cancer

Isabel S. Carvalho, Catarina I. Gonçalves, Joana T. Almeida, Teresa Azevedo, Teresa Martins, Fernando J. Rodrigues, Manuel C. Lemos

Genes (Basel) 2019 Aug; 10(8): 572. Published online 2019 Jul 28. doi: 10.3390/genes10080572

PMCID:: PMC6723605

Article PDF–226K

Select item 60600086.

Smith-Lemli-Opitz Mutations in Unexplained Stillbirths

Karen J. Gibbins, Uma M. Reddy, George R. Saade, Robert L. Goldenberg, Donald J. Dudley, Corette B. Parker, Vanessa Thorsten, Halit Pinar, Radek Bukowski, Carol J. Hogue, Robert M. Silver

Am J Perinatol. Author manuscript; available in PMC 2018 Aug 1.

Published in final edited form as: Am J Perinatol. 2018 Aug; 35(10): 936–939. Published online 2018 Feb 12. doi: 10.1055/s-0038-1626705

PMCID:: PMC6060008

Article PDF–302K

Select item 57960907.

Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome

Yunhui Peng, Rebecca Myers, Wenxing Zhang, Emil Alexov

Int J Mol Sci. 2018 Jan; 19(1): 141. Published online 2018 Jan 4. doi: 10.3390/ijms19010141

PMCID:: PMC5796090

Article PDF–3.1M

Select item 53929328.

Kessarin Thanapirom, Sirinporn Suksawatamnuay, Wattana Sukeepaisarnjaroen, Pisit Tangkijvanich, Sombat Treeprasertsuk, Panarat Thaimai, Rujipat Wasitthankasem, Yong Poovorawan, Piyawat Komolmit

BMC Gastroenterol. 2017; 17: 54. Published online 2017 Apr 17. doi: 10.1186/s12876-017-0613-x

PMCID:: PMC5392932

Article PDF–496K

Select item 50282389.

Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review

M R Boland, N P Tatonetti

Pharmacogenomics J. 2016 Oct; 16(5): 411–429. Published online 2016 Jul 12. doi: 10.1038/tpj.2016.48

PMCID:: PMC5028238

Article PDF–1.0M

Select item 486141210.

Cholesterol-mediated Degradation of 7-Dehydrocholesterol Reductase Switches the Balance from Cholesterol to Vitamin D Synthesis

Anika V. Prabhu, Winnie Luu, Laura J. Sharpe, Andrew J. Brown

J Biol Chem. 2016 Apr 15; 291(16): 8363–8373. Published online 2016 Feb 17. doi: 10.1074/jbc.M115.699546

PMCID:: PMC4861412

Article PDF–2.2M

Select item 372267111.

Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]

Martina Witsch-Baumgartner, Hilary Sawyer, Dorothea Haas

Eur J Hum Genet. 2013 Aug; 21(8) Published online 2013 Jan 16. doi: 10.1038/ejhg.2012.255

PMCID:: PMC3722671

Article PDF–195K

Select item 302721112.

Discordant Clinical Phenotype and Sterol Biochemistry in Smith-Lemli-Opitz Syndrome

Grace Koo, Sandra K. Conley, Christopher A. Wassif, Forbes D. Porter

Am J Med Genet A. Author manuscript; available in PMC 2011 Jan 26.

Published in final edited form as: Am J Med Genet A. 2010 Aug; 152A(8): 2094–2098. doi: 10.1002/ajmg.a.33540

PMCID:: PMC3027211

Article PDF–323K

Select item 137725613.

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

C A Wassif, C Maslen, S Kachilele-Linjewile, D Lin, L M Linck, W E Connor, R D Steiner, F D Porter

Am J Hum Genet. 1998 Jul; 63(1): 55–62. doi: 10.1086/301936

PMCID:: PMC1377256

Summary PDF–1.5M

Select item 128809214.

Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

M. Witsch-Baumgartner, B. U. Fitzky, M. Ogorelkova, H. G. Kraft, F. F. Moebius, H. Glossmann, U. Seedorf, G. Gillessen-Kaesbach, G. F. Hoffmann, P. Clayton, R. I. Kelley, G. Utermann

Am J Hum Genet. 2000 Feb; 66(2): 402–412. Published online 2000 Jan 24. doi: 10.1086/302760

PMCID:: PMC1288092

Article PDF–263K

Select item 120156415.

Normal Cognition and Behavior in a Smith-Lemli-Opitz Syndrome Patient Who Presented With Hirschsprung Disease

C. Mueller, S. Patel, M. Irons, K. Antshel, G. Salen, G.S. Tint, C. Bay

Am J Med Genet A. Author manuscript; available in PMC 2005 Sep 13.

Published in final edited form as: Am J Med Genet A. 2003 Nov 15; 123(1): 100–106. doi: 10.1002/ajmg.a.20491

PMCID:: PMC1201564

Article PDF–1.1M

Select item 1000620616.

Zika virus non-structural protein 4B interacts with DHCR7 to facilitate viral infection

Weijie Chen, Yukun Li, Xiuling Yu, Zhenwei Wang, Wenbiao Wang, Menglan Rao, Yongkui Li, Zhen Luo, Qiwei Zhang, Jinbiao Liu, Jianguo Wu

Virol Sin. 2023 Feb; 38(1): 23–33. Published online 2022 Sep 29. doi: 10.1016/j.virs.2022.09.009

PMCID:: PMC10006206

Article PDF–2.4M

Select item 816454217.

Association of Polymorphisms in Vitamin D-Metabolizing Enzymes DHCR7 and CYP2R1 with Cancer Susceptibility: A Systematic Review and Meta-Analysis

Jing Wen, Jia Li, Xinyuan Liang, Aiping Wang

Dis Markers. 2021; 2021: 6615001. Published online 2021 May 22. doi: 10.1155/2021/6615001

PMCID:: PMC8164542

Article PDF–438K

Select item 638526818.

Vitamin D Receptor Polymorphism and DHCR7 Contribute to the Abnormal Interplay Between Vitamin D and Lipid Profile in Rheumatoid Arthritis

Javier Rodríguez-Carrio, Mercedes Alperi-López, Manuel Naves-Díaz, Adriana Dusso, Patricia López, Francisco Javier Ballina-García, Jorge B. Cannata-Andía, Ana Suárez

Sci Rep. 2019; 9: 2546. Published online 2019 Feb 22. doi: 10.1038/s41598-019-38756-8