Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.

Setchell, K D, Schwarz, M, O'Connell, N C, Lund, E G, Davis, D L, Lathe, R, Thompson, H R, Weslie Tyson, R, Sokol, R J, Russell, D W·1998·Journal of Clinical Investigation
DOI 10.1172/jci2962

Cited by (373)

Items 301–373 of 373

  1. Transplantation for Cholestatic Liver Disease in Children
    Samar H. Ibrahim, Jorge A. Bezerra, William F. Balistreri · 2015 · Elsevier eBooks
  2. Inheritable Cholestatic Disorders
    Paul Gissen, Alex S. Knisely · 2009 · Wiley eBooks
  3. Hepatocellular and Familial Cholestasis
    Alex S. Knisely · 2004 · Springer eBooks
  4. Bile Acids
    Sacha Ferdinandusse, Frédéric Maxime Vaz · 2024 · Springer eBooks
  5. Primary bile acid synthesis disorders
    Волынец Галина Васильевна, Анатолий Ильич Хавкин, А. С. Потапов, Скворцова Тамара Андреевна, Artem V. Nikitin, Anait K. Gevorkyan · 2025 · Russian Journal of Evidence-Based Gastroenterology
  6. Interleukin-18 binding protein protects against metabolic steatohepatitis
    Emmanuel Somm, Yunju Jo, Elodie Perroud, Frédérique Ino, Karina Lindner, Baeki E. Kang, Christelle Veyrat‐Durebex, Franck Bontems, Florian Visentin, Sébastien Fauteux‐Daniel et al. · 2025 · Hepatology Communications
  7. Monitoring Atypical Metabolite Biomarkers in Patients with Bile Acid Synthesis Disorders by a Novel Targeted Tandem Mass Spectrometry Assay
    Kenneth D.R. Setchell, Xueheng Zhao, Stacey Reed, Wujuan Zhang · 2026 · Metabolites
  8. Cytochrome P450 Polymorphisms of Clinical Importance
    Allan E. Rettie, Kenneth E. Thummel · 2014 · Springer eBooks
  9. An Overview of the Evidence Considered by Health Canada in the Regulatory Process to Permit Addition of Plant Sterols to Selected Foods Accompanied by a Cholesterol-lowering Claim
    Elizabeth J. Vavasour, Atiq Rehman, Janice Johnston, Stephen Hayward, Zo Gillespie, Cynthia Boudrault, Nora Lee · 2014 · International Food Risk Analysis Journal
  10. STRUCTURAL FEATURES OF HUMAN CYTOCHROME P450 7B1 WITH AN AMINO ACID SUBSTITUTION OF Phe470Ile
    Yaraslau U. Dzichenka, Eugene S. Gudny, Sergei A. Usanov · 2018 · Doklady of the National Academy of Sciences of Belarus
  11. Bile Acids and Bile Flow
    Kenneth D.R. Setchell, Rohit Kohli · 2018 · Elsevier eBooks
  12. Successful treatment of an infant with congenital bile acid synthesis disorder type 3 by ursodeoxycholic acid: a case report
    Weiqian Mo, Feng Wang, Chuanen Zhou, Tinghe Ma, Zhaojun Pan, Min Xie, Haoyan Ren, Yongwu Xie · 2022 · Journal of Medical Case Reports
  13. Disorders of Bile Acid Synthesis
    Peter Theodore Clayton, Hugh A. Lemonde · 2003 · Springer eBooks
  14. Discovery of the potential of cholesterol-lowering human CYP7 enzymes as biocatalysts for the production of C7 hydroxylated steroids
    Yaraslau U. Dzichenka, Michail A. Shapira, Antos B. Sachanka, Tatsiana Cherkesova, Veronika V. Shchur, Ljubica M. Grbović, Ksenija Pavlović, Bojana Vasiljević, Marina P. Savić, Andrea Nikolić et al. · 2025 · Biophysical Chemistry
  15. Single cell resolution of neurosteroidogenesis in the murine brain: intermediary biosynthesis
    Prasanthi P. Koganti, Vimal Selvaraj · 2025 · Journal of Endocrinology
  16. Inborn errors of bile acid metabolism and their diagnostic confirmation by means of mass spectrometry
    Diran Agaid Herebian, Ertan Mayatepek · 2011 · DergiPark (Istanbul University)
  17. Bile Acids: At the Crossroads of Sterol, Fat and Carbohydrate Metabolism
    Luis B. Agellon · 2006 · Springer eBooks
  18. Colestasis neonatales
    Emmanuel M. Gonzales, Emmanuel Jacquemin · 2007 · EMC - Pediatría
  19. Proteomic analysis of rodent hepatic responses to peroxisome proliferators
    Neil MaCdonald, Ruth Angela Roberts · 2002 · Methods in enzymology on CD-ROM/Methods in enzymology
  20. Molecular Cholestasis
    Paul Gissen, Richard J. Thompson · 2020
  21. Disorders of Bile Acid Synthesis
    Peter Theodore Clayton · 2000 · Springer eBooks
  22. Downregulation of CYP7B1 caused by lipotoxicity associates with the progression of non-alcoholic steatohepatitis
    Yuichi Watanabe, Kyohei Kinoshita, Napatsorn Dumrongkulchart, Takashi Sasaki, Makoto Shimizu, Yoshio Yamauchi, Ryuichiro Sato · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  23. Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases
    Mohsen Ali Asgari, Eylan Yutuc, Jonas Abdel‐Khalik, Peter J. Crick, A. A. M. Morris, Simon Allan Jones, Arunabha Ghosh, Richard Curnock, Claire Hart, Ludger J. Schöls et al. · 2025 · medRxiv
  24. Studies on sterol 27-hydroxylase (CYP27A1)
    Sara von Bahr · 2004 · Figshare
  25. Intestinal function in cholestasis and essential fatty acid deficiency
    Esther Los · 2007 · University of Groningen research database (University of Groningen / Centre for Information Technology)
  26. Use of Chromatography in Animal Ecology
    Belaud Emma, María Soledad, H. Gustavo · 2012 · InTech eBooks
  27. Studies on the mechanism of regulation of bile acid synthesis in humans with some aspects on genetic factors
    Anna Abrahamsson · 2005 · Figshare
  28. Molekulare Ursachen von Störungen des hepatogastroenterologischen Systems bei Neugeborenen
    L. Bindl, Stephan Buderus, Söhnke Dammann, Michael J. Lentze · 2005 · Springer eBooks
  29. Progressive familial intrahepatic cholestasis : Clinical, biochemical, genetic and histopathological aspects
    Henrik Arnell · 2009 · Figshare
  30. Structural and Functional Characteristics of Oxysterol 7α-Hydroxylase with Amino-Acid Substitution R486C and Their Relation to the Appearance of Neurodegenerative Diseases
    Ya. V. Dichenko, А. V. Yantsevich, Sergey A. Usanov · 2015 · Journal of Applied Spectroscopy
  31. Causes and consequences of cholestasis
    Ekkehard Sturm · 2004 · Tijdschrift voor kindergeneeskunde
  32. Cytochrome P450 enzymes in the metabolism of cholesterol and cholesterol derivatives.
    Maria Norlin · 2000 · KTH Publication Database DiVA (KTH Royal Institute of Technology)
  33. Vue D’ensemble des Éléments Dont Santé Canada a Tenu Compte au Cours du Processus Réglementaire Permettant L’adjonction de Stérols Végétaux à Certains Aliments Accompagnée D’une Allégation sur la Réduction Du Cholestérol
    Elizabeth J. Vavasour, Atiq Rehman, Janice Johnston, Stephen Hayward, Zo Gillespie, Cynthia Boudrault, Nora Lee · 2014 · International Food Risk Analysis Journal
  34. STUDIES ON THE REGULATORY ROLES OF CHOLESTEROL AND BILE ACIDS
    Charlotte Murphy · 2007 · Figshare
  35. Thematic Review Series: Genetics of Human Lipid Diseases Genetic connections between neurological disorders and cholesterol metabolism
    Ingemar Björkhem, Valerio Leoni, Steve Meaney, Carlo Besta · 2010
  36. The effect of 5 intravenous lipid emulsions on plasma phytosterols in preterm infants receiving parenteral nutrition: a randomized
    Sara Savini, Chiara Biagetti, Giulia Serpentini, Adriana Pompilio, Alice Bartoli, Paola Elisa Cogo, Virgilio Paolo Carnielli · 2013
  37. α-Methylacyl-CoA racemase : an enzyme at crossroads in lipid metabolism
    Kalle Savolainen · 2004
  38. expression levels Cyp7a1 expansion of the bile acid pool parallels increased Hepatic bile acid metabolism in the neonatal hamster
    Katie T. Burke, Paul S. Horn, Patrick Tso, James E. Heubi, Laura A. Woollett · 2016
  39. Co nowego w cholestazie – część 3. Wrodzone zaburzenia syntezy kwasów żółciowych
    Patryk Lipiński, Piotr Socha, Irena Jankowska · 2017 · Pediatria Polska
  40. Bile Acids and Cholestatic Liver Disease 3: Inborn Errors of Bile Acid Synthesis
    Hiroshi Nittono, Akihiko Kimura, Hajime Takei, Takao Kurosawa, Takashi Iida · 2017 · Springer eBooks
  41. Bile Acid Metabolism During Development
    John C. Bucuvalas, Kenneth D.R. Setchell · 2004 · Elsevier eBooks
  42. Genetic Cholestatic Disorders
    Emanuele Nicastro, Lorenzo D’Antiga · 2019 · Springer eBooks
  43. Pediatric Cholestatic Syndromes
    James E. Squires, William F. Balistreri, Jorge A. Bezerra · 2018 · Elsevier eBooks
  44. Disorders of Bile Acid Synthesis and Metabolism in Children
    Kenneth D.R. Setchell, James E. Heubi · 2021 · Cambridge University Press eBooks
  45. Liver Transplantation for Infantile Liver Failure Secondary to Oxysterol-7 Alpha Hydroxylase Deficiency
    Ramya Murthy, Vijai Williams, Kasala Mohan Babu, Karnan Perumal, Karattupalayam Sampath Mouleeswaran, Selvakumar Malleeswaran, Rajanikanth V. Patcha, Vivek Vij, Nirmala Dheivamani, Joy Varghese · 2021 · Gastroenterology Hepatology and Endoscopy Practice
  46. 27-Hydroxycholesterol 7α-monooxygenase
    2008 · Springer eBooks
  47. Analysis of mice deficient in the bile acid biosynthetic enzyme 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7)
    Heidi C. Shea, Kenneth D.R. Setchell, David W. Russell · 2007 · Springer eBooks
  48. Monooxygenases
    Elizabeth A. Shephard, Ian Richard Phillips · 2002 · Wiley Encyclopedia of Molecular Medicine
  49. Cholestasis
    2011 · Elsevier eBooks
  50. Adolf Windaus Prize Lecture 2004
    Kenneth D.R. Setchell · 2007 · Springer eBooks
  51. Cytochrome P450
    Abdelbaset A. Elzagallaai, Michael John Rieder · 2019 · Encyclopedia of Gastroenterology
  52. Congenital Bile Acid Synthesis Defect Type 3 With Severe Neonatal Cholestasis
    Mukul Vij, Vaibhav S. Shah · 2022 · Pediatric and Developmental Pathology
  53. Supplemental Clostridium butyricumon modulates lipid metabolism of IUGR suckling piglets through reshaping the composition of gut microbiota and bile acid profile
    Xin Zhang, Yun Yang, Zheng Lai, Shuli Ji, Ge Yu, Zechen Xie, Hao Zhang, Xiang Zhong, Tian Wang, Lili Zhang · 2022 · Research Square
  54. Disorders of Bile Acid Synthesis
    Peter Theodore Clayton · 2006 · Springer eBooks
  55. My lifelong dedication to bile acid research
    John Y.L. Chiang · 2023 · Journal of Biological Chemistry
  56. Bile Acid Physiology and Alterations in the Enterohepatic Circulation
    Gregory J. Guthrie, Sanjiv Harpavat · 2025 · Elsevier eBooks
  57. Additional file 4 of Supplemental Clostridium butyricum modulates lipid metabolism by reshaping the gut microbiota composition and bile acid profile in IUGR suckling piglets
    Xin Zhang, Yun, Yang, Lai, Zheng, Ji, Shuli, Yu, Ge, Zechen Xie, Zhang, Hao, Zhong, Xiang, Wang, Tian, Lili Zhang · 2024 · Figshare
  58. Additional file 1 of Integrative metagenomic and metabolomic analyses reveal the role of gut microbiota in antibody-mediated renal allograft rejection
    Li, Xin, Li, Ruoying, Bingqing Ji, Zhao, Lili, Junpeng Wang, Yan, Tianzhong · 2023 · Figshare
  59. Additional file 3 of Supplemental Clostridium butyricum modulates lipid metabolism by reshaping the gut microbiota composition and bile acid profile in IUGR suckling piglets
    Xin Zhang, Yun, Yang, Zheng Lai, Ji, Shuli, Yu, Ge, Zechen Xie, Zhang, Hao, Zhong, Xiang, Wang, Tian, Lili Zhang · 2024 · Figshare
  60. Additional file 2 of Supplemental Clostridium butyricum modulates lipid metabolism by reshaping the gut microbiota composition and bile acid profile in IUGR suckling piglets
    Xin Zhang, Yun, Yang, Zheng Lai, Ji, Shuli, Yu, Ge, Zechen Xie, Zhang, Hao, Zhong, Xiang, Tian Wang, Lili Zhang · 2024 · Figshare
  61. Additional file 1 of Supplemental Clostridium butyricum modulates lipid metabolism by reshaping the gut microbiota composition and bile acid profile in IUGR suckling piglets
    Xin Zhang, Yun, Yang, Zheng Lai, Ji, Shuli, Yu, Ge, Zechen Xie, Zhang, Hao, Zhong, Xiang, Wang, Tian, Zhang, Lili · 2024 · Figshare
  62. Additional file 5 of Supplemental Clostridium butyricum modulates lipid metabolism by reshaping the gut microbiota composition and bile acid profile in IUGR suckling piglets
    Xin Zhang, Yun, Yang, Zheng Lai, Ji, Shuli, Yu, Ge, Zechen Xie, Zhang, Hao, Zhong, Xiang, Tian Wang, Lili Zhang · 2024 · Figshare
  63. Influence of bile acids metabolism on hepatic immunity in mice
    Valentine Guinot · 2022 · theses.fr (ABES)
  64. Analyse de la régulation de l'homéostasie des acides biliaires au sein des testicules
    Hélène Holota · 2024 · theses.fr (ABES)
  65. A Mechanistic Framework of Genetic Liver Diseases: From Developmental Defects to Functional Disorders
    Angelo Corso Faini, Alberto Calleri, Michele Pinon, Cristina Chiadò, Pier Luigi Calvo, Tiziana Vaisitti, Silvia Deaglio · 2026 · Livers
  66. Early-onset PUFA deficiency exacerbates lean MAFLD-like hepatic injury in FADS2 knockout mice
    Yuri Hayashi, Natuki Matsuoka, Yukina Yoshimoto, Emi Nishijima Sakanashi, Maoko Sato, Yuki Kurobe-Takashima, Tomoko Ishikawa, Yoko Fujiwara, Makoto Shimizu, Ikuyo Ichi · 2026 · The Journal of Nutritional Biochemistry
  67. Cholestases génétiques hépatocytaires : déficits de synthèse des acides biliaires primaires et cholestases intra-hépatiques familiales progressives
    Antoine Gardin, Nolwenn Laborde, Emmanuel M. Gonzales · 2026 · Perfectionnement en Pédiatrie
  68. Bile Acid Synthesis and Metabolism Disorders
    Krupa R. Mysore, Rohit Kohli, Kenneth D.R. Setchell · 2026 · Clinics in Liver Disease
  69. Bile Biochemistry as a Therapeutic Target in Biliary Surgery: Disease-Specific Evidence and Clinical Limits
    Zelimkhan G. M. Berikkhanov, Zakhar A. Akulov, M. A. Emtsev, E. А. Tarabrin, Alexey Shestakov, Aleksey Kotelnikov, Andrey Nikolaev, Vadim Sergeevich Razumovsky, M. Yu. Ivanova, Mehrshad Ebrahimnezhad et al. · 2026 · Metabolites
  70. Comprehensive Urinary Bile Acid Profiling in Patients Investigated for Inborn Errors of Bile Acid Synthesis Using LC–MS/MS
    Ufuk Bozkurt Obuz, Duygu Demirtaş, Ersin Gümüş, Basri Gülbakan, Hülya Demir, Hasan Özen, Turgay Coşkun, İncilay Lay · 2026 · Metabolites
  71. Rare Mendelian CYP disorders: from metabolic pathways to biomarker-guided diagnosis
    Wojciech Kuban, Ewa Bromek, Renata Pukło, Anna Haduch · 2026 · Drug Metabolism Reviews
  72. Genetic hepatocellular cholestasis: an update
    Antoine Gardin, William Pouillot, Marion Almes, Charlotte Mussini, Emmanuel M. Gonzales, Emmanuel Jacquemin · 2026 · Clinics and Research in Hepatology and Gastroenterology
  73. A microbiome-bile acid axis mediates protection from chronic liver disease in females
    Mengci Li, Junliang Kuang, Tianlu Chen, Keke Ding, Yuanyuan Chen, Fuxin Jiao, Yang Li, Peiyang Luo, Linyu Xia, Huiheng Zhang et al. · 2026 · Cell