JCI - Citations to Malformation syndromes due to inborn errors of cholesterol synthesis

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Malformation syndromes due to inborn errors of cholesterol synthesis

Forbes D. Porter

Forbes D. Porter

Published September 15, 2002
Citation Information: J Clin Invest. 2002;110(6):715-724. https://doi.org/10.1172/JCI16386.

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Citations to this article (35)

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Dishevelled localization and function are differentially regulated by structurally distinct sterols. Sengupta S, Yaeger JDW, Schultz MM, Francis KR	bioRxiv : the preprint server for biology	2024
Acute hyperlipidemia has transient effects on large-scale bone regeneration in male mice Yamamoto de Almeida L, Dietrich C, Duverger O, Lee JS	Scientific Reports	2024
Effective Parameters Controlling Sterol Transfer: A Time-Resolved Small-Angle Neutron Scattering Study. Perez-Salas U, Porcar L, Garg S, Ayee MAA, Levitan I	The Journal of Membrane Biology	2022
Sterol Biosynthesis Inhibition in Pregnant Women Taking Prescription Medications TC Genaro-Mattos, KB Klingelsmith, LB Allen, A Anderson, KA Tallman, NA Porter, Z Korade, K Mirnics		2021
Activation of WNT signaling restores the facial deficits in a zebrafish with defects in cholesterol metabolism VL Castro, NG ReyesNava, BB Sanchez, CG Gonzalez, D Paz, AM Quintana	Genesis (New York, N.Y. : 2000)	2020
Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome. Maceda EBG, Kratz LE, Ramos VME, Abacan MAR	BMJ case reports	2020
Desmosterolosis and desmosterol homeostasis in the developing mouse brain LB Allen, TC GenaroMattos, NA Porter, K Mirnics, Z Korade	Journal of Inherited Metabolic Disease	2019
From Cannabinoids and Neurosteroids to Statins and the Ketogenic Diet: New Therapeutic Avenues in Rett Syndrome? FM Mouro, C Miranda-Lourenço, AM Sebastião, MJ Diógenes	Frontiers in neuroscience	2019
Sterol Metabolism and Transport in Atherosclerosis and Cancer Y Yamauchi, MA Rogers	Frontiers in Endocrinology	2018
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Cholesterol Homeostasis IC Gelissen, AJ Brown	Cholesterol Homeostasis	2017
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ABCA1-dependent sterol release: sterol molecule specificity and potential membrane domain for HDL biogenesis Y Yamauchi, S Yokoyama, TY Chang	Journal of lipid research	2015
Feeding Impairments Associated with Plasma Sterols in Smith-Lemli-Opitz Syndrome MJ Merkens, NL Sinden, CD Brown, LS Merkens, JB Roullet, T Nguyen, RD Steiner	The Journal of Pediatrics	2014
Novel activities of CYP11A1 and their potential physiological significance AT Slominski, W Li, TK Kim, I Semak, J Wang, JK Zjawiony, RC Tuckey	The Journal of Steroid Biochemistry and Molecular Biology	2014
Steroidal Triterpenes of Cholesterol Synthesis J Ačimovič, D Rozman	Molecules (Basel, Switzerland)	2013
Effects of diet and development on the Drosophila lipidome M Carvalho, JL Sampaio, W Palm, M Brankatschk, S Eaton, A Shevchenko	Molecular Systems Biology	2012
Mutational Spectrum of Smith-Lemli-Opitz Syndrome Patients in Hungary I Balogh, K Koczok, GP Szabó, O Török, K Hadzsiev, G Csábi, L Balogh, E Dzsudzsák, E Ajzner, L Szabó, V Csákváry, AV Oláh	Molecular syndromology	2012
Malformation syndromes caused by disorders of cholesterol synthesis FD Porter, GE Herman	Journal of lipid research	2011
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Common genetic determinants of vitamin D insufficiency: a genome-wide association study TJ Wang, F Zhang, JB Richards, B Kestenbaum, JB van Meurs, D Berry, DP Kiel, EA Streeten, C Ohlsson, DL Koller, L Peltonen, JD Cooper, PF O'Reilly, DK Houston, NL Glazer, L Vandenput, M Peacock, J Shi, F Rivadeneira, MI McCarthy, P Anneli, IH de Boer, M Mangino, B Kato, DJ Smyth, SL Booth, PF Jacques, GL Burke, M Goodarzi, CL Cheung, M Wolf, K Rice, D Goltzman, N Hidiroglou, M Ladouceur, NJ Wareham, LJ Hocking, D Hart, NK Arden, C Cooper, S Malik, WD Fraser, AL Hartikainen, G Zhai, HM Macdonald, NG Forouhi, RJ Loos, DM Reid, A Hakim, E Dennison, Y Liu, C Power, HE Stevens, L Jaana, RS Vasan, N Soranzo, J Bojunga, BM Psaty, M Lorentzon, T Foroud, TB Harris, A Hofman, JO Jansson, JA Cauley, AG Uitterlinden, Q Gibson, MR Järvelin, D Karasik, DS Siscovick, MJ Econs, SB Kritchevsky, JC Florez, JA Todd, J Dupuis, E Hyppönen, TD Spector	Lancet	2010
Pulmonary surfactant: an immunological perspective ZC Chroneos, Z Sever-Chroneos, VL Shepherd	Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology	2009
Prolactin receptor-associated protein/17beta-hydroxysteroid dehydrogenase type 7 gene (Hsd17b7) plays a crucial role in embryonic development and fetal survival A Shehu, J Mao, GB Gibori, J Halperin, J Le, YS Devi, B Merrill, H Kiyokawa, G Gibori	Molecular Endocrinology	2008
RETRACTED ARTICLE: Age-dependent Increase in Desmosterol Restores DRM Formation and Membrane-related Functions in Cholesterol-free DHCR24−/− Mice K Kuehnle, MD Ledesma, L Kalvodova, AE Smith, A Crameri, F Skaanes-Brunner, KM Thelen, L Kulic, D Lütjohann, FL Heppner, RM Nitsch, MH Mohajeri	Neurochemical Research	2008
Partial rescue of retinal function and sterol steady-state in a rat model of Smith-Lemli-Opitz syndrome SJ Fliesler, DK Vaughan, EC Jenewein, MJ Richards, BA Nagel, NS Peachey	Pediatric Research	2007
Inability to fully suppress sterol synthesis rates with exogenous sterol in embryonic and extraembyronic fetal tissues L Yao, K Jenkins, PS Horn, MH Lichtenberg, LA Woollett	Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids	2007
Biomarkers, metabonomics, and drug development: can inborn errors of metabolism help in understanding drug toxicity? S Vangala, A Tonelli	The AAPS Journal	2007
Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat Masayuki Mori, Guixin Li, Ikuro Abe, Jun Nakayama, Zhanjun Guo, Jinko Sawashita, Thru Ugawa, Shoko Nishizono, Tadao Serikawa, Keiichi Higuchi, and Seigo Shumiya	Journal of Clinical Investigation	2006
Cholesterol precursors and facial clefting Forbes D. Porter	Journal of Clinical Investigation	2006
The Human Serotonin1A Receptor Expressed in Neuronal Cells: Toward a Native Environment for Neuronal Receptors Paila YD, Chattopadhyay A	Cellular and Molecular Neurobiology	2006
The Serotonin1A A Receptor: A Representative Member of the Serotonin Receptor Family TJ Pucadyil, S Kalipatnapu, A Chattopadhyay	Cellular and Molecular Neurobiology	2005
Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome RK Keller, TP Arnold, SJ Fliesler	Journal of lipid research	2003
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. Waterham HR, Koster J, Mooyer P, Noort Gv Gv, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC	The American Journal of Human Genetics	2003
Cholesterol in Health and Disease Ira Tabas	Journal of Clinical Investigation	2002

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