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Select item 108585891.

Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene

Muhammed Köroğlu, Mustafa Karakaplan, Enes Gündüz, Betül Kesriklioğlu, Emre Ergen, Okan Aslantürk, Zeynep Maraş Özdemir

Orphanet J Rare Dis. 2024; 19: 53. Published online 2024 Feb 9. doi: 10.1186/s13023-024-03082-4

PMCID:: PMC10858589

Abstract Article PDF–2.8M

Select item 107706172.

27-Hydroxylation of oncosterone by CYP27A1 switches its activity from pro-tumor to anti-tumor

Silia Ayadi, Silvia Friedrichs, Regis Soulès, Laly Pucheu, Dieter Lütjohann, Sandrine Silvente-Poirot, Marc Poirot, Philippe de Medina

J Lipid Res. 2023 Dec; 64(12): 100479. Published online 2023 Nov 20. doi: 10.1016/j.jlr.2023.100479

PMCID:: PMC10770617

Abstract Article PDF–3.2M

Select item 84813903.

CYP27A1 dependent anti-melanoma activity of limonoid natural products targets mitochondrial metabolism

Hyelim Cho, Qiong Shen, Lydia H. Zhang, Mikiko Okumura, Akinori Kawakami, Jessi Ambrose, Frederic Sigoillot, Howard R. Miller, Scott Gleim, Amanda Cobos-Correa, Ying Wang, Philippe Piechon, Guglielmo Roma, Fabian Eggimann, Charles Moore, Peter Aspesi, Jr., Felipa A. Mapa, Heather Burks, Nathan T. Ross, Philipp Krastel, Marc Hild, Thomas J. Maimone, David E. Fisher, Daniel K. Nomura, John A. Tallarico, Stephen M. Canham, Jeremy L. Jenkins, William C. Forrester

Cell Chem Biol. Author manuscript; available in PMC 2022 Oct 21.

Published in final edited form as: Cell Chem Biol. 2021 Oct 21; 28(10): 1407–1419.e6. Published online 2021 Mar 31. doi: 10.1016/j.chembiol.2021.03.004

PMCID:: PMC8481390

Abstract Article PDF–1.5M

Select item 79215204.

Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis

Zahra Rashvand, Kimia Kahrizi, Hossein Najmabadi, Reza Najafipour, Mir Davood Omrani

Iran Biomed J. 2021 Mar; 25(2): 132–139. Published online 2021 Jan 19. doi: 10.29252/ibj.25.2.132

PMCID:: PMC7921520

Abstract Article PDF–975K

Select item 76567405.

CYP27A1 expression is associated with risk of late lethal estrogen receptor-positive breast cancer in postmenopausal patients

Siker Kimbung, Maria Inasu, Tor Stålhammar, Björn Nodin, Karin Elebro, Helga Tryggvadottir, Maria Ygland Rödström, Karin Jirström, Karolin Isaksson, Helena Jernström, Signe Borgquist

Breast Cancer Res. 2020; 22: 123. Published online 2020 Nov 11. doi: 10.1186/s13058-020-01347-x

PMCID:: PMC7656740

Abstract Article PDF–1.2M

Select item 65486166.

Intratumoral sterol-27-hydroxylase (CYP27A1) expression in relation to cholesterol synthesis and vitamin D signaling and its association with lethal prostate cancer

Nabeela A. Khan, Konrad H. Stopsack, Emma H. Allott, Travis Gerke, Edward L. Giovannucci, Lorelei A. Mucci, Philip W. Kantoff

Cancer Epidemiol Biomarkers Prev. Author manuscript; available in PMC 2020 Jun 1.

Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2019 Jun; 28(6): 1052–1058. Published online 2019 Mar 13. doi: 10.1158/1055-9965.EPI-18-1083

PMCID:: PMC6548616

Abstract Article PDF–415K

Select item 63819347.

Vitamin D supplementation decreases serum 27-hydroxycholesterol in a pilot breast cancer trial

Catherine C. Going, Ludmila Alexandrova, Kenneth Lau, Christine Y. Yeh, David Feldman, Sharon J. Pitteri

Breast Cancer Res Treat. Author manuscript; available in PMC 2019 Feb 20.

Published in final edited form as: Breast Cancer Res Treat. 2018 Feb; 167(3): 797–802. Published online 2017 Nov 7. doi: 10.1007/s10549-017-4562-4

PMCID:: PMC6381934

Abstract Article PDF–664K

Select item 63437038.

CYP27A1 inhibits bladder cancer cells proliferation by regulating cholesterol homeostasis

Zhijuan Liang, Yuanbin Chen, Liping Wang, Dan Li, Xuecheng Yang, Guofeng Ma, Yonghua Wang, Yongxin Li, Han Zhao, Ye Liang, Haitao Niu

Cell Cycle. 2019; 18(1): 34–45. Published online 2018 Dec 30. doi: 10.1080/15384101.2018.1558868

PMCID:: PMC6343703

Abstract Article PDF–1.7M

Select item 59385039.

Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing

Hayato Tada, Syota Inaba, Daria Pozharitckaia, Masa-aki Kawashiri

Intern Med. 2018 Apr 15; 57(8): 1119–1122. Published online 2017 Dec 21. doi: 10.2169/internalmedicine.9687-17

PMCID:: PMC5938503

Abstract Article PDF–576K

Select item 568788410.

CYP27A1 loss dysregulates cholesterol homeostasis in prostate cancer

Mahmoud A. Alfaqih, Erik R. Nelson, Wen Liu, Rachid Safi, Jeffery S. Jasper, Everardo Macias, Joseph Geradts, J. Will Thompson, Laura G. Dubois, Michael R. Freeman, Ching-yi Chang, Jen-Tsan Chi, Donald P. McDonnell, Stephen J. Freedland

Cancer Res. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: Cancer Res. 2017 Apr 1; 77(7): 1662–1673. Published online 2017 Jan 27. doi: 10.1158/0008-5472.CAN-16-2738

PMCID:: PMC5687884

Abstract Article PDF–818K

Select item 545450311.

Increased maternal and fetal cholesterol efflux capacity and placental CYP27A1 expression in preeclampsia

Hiten D. Mistry, Lesia O. Kurlak, Yosef T. Mansour, Line Zurkinden, Markus G. Mohaupt, Geneviève Escher

J Lipid Res. 2017 Jun; 58(6): 1186–1195. Published online 2017 Apr 10. doi: 10.1194/jlr.M071985

PMCID:: PMC5454503

Abstract Article PDF–1.0M

Select item 476701012.

Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes

Vivek Appadurai, Andrea DeBarber, Pei-Wen Chiang, Shailendra B. Patel, Robert D Steiner, Charles Tyler, Penelope E. Bonnen

Mol Genet Metab. Author manuscript; available in PMC 2016 Dec 1.

Published in final edited form as: Mol Genet Metab. 2015 Dec; 116(4): 298–304. Published online 2015 Oct 26. doi: 10.1016/j.ymgme.2015.10.010

PMCID:: PMC4767010

Abstract Article PDF–701K

Select item 461809113.

Synthesis of an Endogenous Steroidal Na Pump Inhibitor Marinobufagenin, Implicated in Human Cardiovascular Diseases, Is Initiated by CYP27A1 via Bile Acid Pathway

Olga V. Fedorova, Valentina I. Zernetkina, Victoria Y. Shilova, Yulia N. Grigorova, Ondrej Juhasz, Wen Wei, Courtney A. Marshall, Edward G. Lakatta, Alexei Y. Bagrov

Circ Cardiovasc Genet. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Circ Cardiovasc Genet. 2015 Oct; 8(5): 736–745. Published online 2015 Sep 15. doi: 10.1161/CIRCGENETICS.115.001217

PMCID:: PMC4618091

Abstract Article PDF–2.4M

Select item 332455914.

Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS

Frank P. Diekstra, Christiaan G. J. Saris, Wouter van Rheenen, Lude Franke, Ritsert C. Jansen, Michael A. van Es, Paul W. J. van Vught, Hylke M. Blauw, Ewout J. N. Groen, Steve Horvath, Karol Estrada, Fernando Rivadeneira, Albert Hofman, Andre G. Uitterlinden, Wim Robberecht, Peter M. Andersen, Judith Melki, Vincent Meininger, Orla Hardiman, John E. Landers, Robert H. Brown, Jr., Aleksey Shatunov, Christopher E. Shaw, P. Nigel Leigh, Ammar Al-Chalabi, Roel A. Ophoff, Leonard H. van den Berg, Jan H. Veldink

PLoS One. 2012; 7(4): e35333. Published online 2012 Apr 11. doi: 10.1371/journal.pone.0035333

PMCID:: PMC3324559

Abstract Article PDF–421K

Select item 322656815.

2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis

Di Tian, Zai-qiang Zhang

BMC Neurol. 2011; 11: 130. Published online 2011 Oct 21. doi: 10.1186/1471-2377-11-130

PMCID:: PMC3226568

Abstract Article PDF–795K

Select item 312152916.

Isolevuglandins and Mitochondrial Enzymes in the Retina: MASS SPECTROMETRY DETECTION OF POST-TRANSLATIONAL MODIFICATION OF STEROL-METABOLIZING CYP27A1

Casey Charvet, Wei-Li Liao, Gun-Young Heo, James Laird, Robert G. Salomon, Illarion V. Turko, Irina A. Pikuleva

J Biol Chem. 2011 Jun 10; 286(23): 20413–20422. Published online 2011 Apr 15. doi: 10.1074/jbc.M111.232546

PMCID:: PMC3121529

Abstract Article PDF–1015K

Select item 270717917.

Mutational Analysis of CYP27A1: Assessment of 27-Hydroxylation of Cholesterol and 25-Hydroxylation of Vitamin D

Ram P. Gupta, Kennerly Patrick, Norman H. Bell

Metabolism. Author manuscript; available in PMC 2009 Jul 8.

Published in final edited form as: Metabolism. 2007 Sep; 56(9): 1248–1255. doi: 10.1016/j.metabol.2007.04.023

PMCID:: PMC2707179

Abstract Article PDF–627K

Select item 173660818.

Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis

K Shiga, R Fukuyama, S Kimura, K Nakajima, S Fushiki

J Neurol Neurosurg Psychiatry. 1999 Nov; 67(5): 675–677. doi: 10.1136/jnnp.67.5.675

PMCID:: PMC1736608

Summary PDF–99K

Select item 51504519.

Transcriptional Regulation of Human CYP27 Integrates Retinoid, Peroxisome Proliferator-Activated Receptor, and Liver X Receptor Signaling in Macrophages

Attila Szanto, Szilvia Benko, Istvan Szatmari, Balint L. Balint, Ibolya Furtos, Ralph Rühl, Sandor Molnar, Laszlo Csiba, Rita Garuti, Sebastiano Calandra, Hanna Larsson, Ulf Diczfalusy, Laszlo Nagy

Mol Cell Biol. 2004 Sep; 24(18): 8154–8166. doi: 10.1128/MCB.24.18.8154-8166.2004

PMCID:: PMC515045

Abstract Article PDF–716K

Select item 44330920.

Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.

E Leitersdorf, A Reshef, V Meiner, R Levitzki, S P Schwartz, E J Dann, N Berkman, J J Cali, L Klapholz, V M Berginer

J Clin Invest. 1993 Jun; 91(6): 2488–2496. doi: 10.1172/JCI116484

PMCID:: PMC443309

Summary Page Browse PDF–1.8M

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