标题
Malformation syndromes caused by disorders of cholesterol synthesis
作者
关键词
-
出版物
JOURNAL OF LIPID RESEARCH
Volume 52, Issue 1, Pages 6-34
出版商
American Society for Biochemistry & Molecular Biology (ASBMB)
发表日期
2010-10-08
DOI
10.1194/jlr.r009548
参考文献
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- (2010) David D. Weaver et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata
- (2010) Rudolf Happle CLINICAL GENETICS
- Hydroxysteroid (17β) Dehydrogenase 7 Activity Is Essential for Fetalde NovoCholesterol Synthesis and for Neuroectodermal Survival and Cardiovascular Differentiation in Early Mouse Embryos
- (2010) Heli Jokela et al. ENDOCRINOLOGY
- Activation of Rho GTPases in Smith–Lemli–Opitz syndrome: pathophysiological and clinical implications
- (2010) Xiao-Sheng Jiang et al. HUMAN MOLECULAR GENETICS
- Comparison of the liquid-ordered bilayer phases containing cholesterol or 7-dehydrocholesterol in modeling Smith-Lemli-Opitz syndrome
- (2010) Galya Staneva et al. JOURNAL OF LIPID RESEARCH
- Oxysterols from Free Radical Chain Oxidation of 7-Dehydrocholesterol: Product and Mechanistic Studies
- (2010) Libin Xu et al. JOURNAL OF THE AMERICAN CHEMICAL SOCIETY
- Quantitative Proteomics Analysis of Inborn Errors of Cholesterol Synthesis
- (2010) Xiao-Sheng Jiang et al. MOLECULAR & CELLULAR PROTEOMICS
- Lipid Rafts As a Membrane-Organizing Principle
- (2010) D. Lingwood et al. SCIENCE
- Pelger-Huët Anomaly: A Critical Review of the Literature
- (2009) M.M. Speeckaert et al. ACTA HAEMATOLOGICA
- Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome
- (2009) Elaine Tierney et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus
- (2009) Christèle du Souich et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Central nervous system: cholesterol turnover, brain development and neurodegeneration
- (2009) John M. Dietschy BIOLOGICAL CHEMISTRY
- A comparison of the packing behavior of egg phosphatidylcholine with cholesterol and biogenically related sterols in Langmuir monolayer films
- (2009) Kimberly Borrenpohl Lintker et al. CHEMISTRY AND PHYSICS OF LIPIDS
- A patient with Smith–Lemli–Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement
- (2009) Gabriella P. Szabó et al. EUROPEAN JOURNAL OF PEDIATRICS
- PORCNmutations in focal dermal hypoplasia: coping with lethality
- (2009) Dorothea Bornholdt et al. HUMAN MUTATION
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- (2009) Maki Fukami et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Identification of an Overabundant Cholesterol Precursor in Hepatitis B Virus Replicating Cells by Untargeted Lipid Metabolite Profiling
- (2009) Mary A. Rodgers et al. JOURNAL OF THE AMERICAN CHEMICAL SOCIETY
- CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder
- (2009) GP Avgerinou et al. JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
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- (2009) Richard J. Cenedella LIPIDS
- Trafficking, development and hedgehog
- (2009) Fiona Simpson et al. MECHANISMS OF DEVELOPMENT
- Cholesterol Metabolism: the Main Pathway Acting Downstream of Cytochrome P450 Oxidoreductase in Skeletal Development of the Limb
- (2009) K. Schmidt et al. MOLECULAR AND CELLULAR BIOLOGY
- Cytotoxic effects of oxysterols associated with human diseases: Induction of cell death (apoptosis and/or oncosis), oxidative and inflammatory activities, and phospholipidosis
- (2009) Anne Vejux et al. MOLECULAR ASPECTS OF MEDICINE
- Oxysterols and neurodegenerative diseases
- (2009) Ingemar Björkhem et al. MOLECULAR ASPECTS OF MEDICINE
- Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa1H/+ mouse
- (2009) David Cunningham et al. MOLECULAR GENETICS AND METABOLISM
- A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
- (2009) Patrick S Tarpey et al. NATURE GENETICS
- Effects of Dietary Cholesterol and Simvastatin on Cholesterol Synthesis in Smith-Lemli-Opitz Syndrome
- (2009) Yen-Ming Chan et al. PEDIATRIC RESEARCH
- Vitamin D, a neuro-immunomodulator: Implications for neurodegenerative and autoimmune diseases
- (2009) D.A. Fernandes de Abreu et al. PSYCHONEUROENDOCRINOLOGY
- The Human Gene Mutation Database: 2008 update
- (2009) Peter D Stenson et al. Genome Medicine
- Where Does Fetal and Embryonic Cholesterol Originate and What Does It Do?
- (2008) Laura A. Woollett Annual Review of Nutrition
- Signaling by the human serotonin1A receptor is impaired in cellular model of Smith–Lemli–Opitz Syndrome
- (2008) Yamuna Devi Paila et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
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- (2008) R. Mirza et al. BRITISH JOURNAL OF DERMATOLOGY
- Potential of Sterol Analysis by Liquid Chromatography-Tandem Mass Spectrometry for the Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome
- (2008) W. J. Griffiths et al. CLINICAL CHEMISTRY
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- (2008) Melita D. Irving et al. CLINICAL DYSMORPHOLOGY
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- (2008) Xiuli Lu et al. ENDOCRINOLOGY
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- (2008) Forbes D Porter EUROPEAN JOURNAL OF HUMAN GENETICS
- Disruption of the gene encoding 3β-hydroxysterol Δ14-reductase (Tm7sf2) in mice does not impair cholesterol biosynthesis
- (2008) Anna M. Bennati et al. FEBS Journal
- Genetic and Clinical Features of P450 Oxidoreductase Deficiency
- (2008) Rachel R. Scott et al. HORMONE RESEARCH
- Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome
- (2008) M. L. Lindegaard et al. HUMAN MOLECULAR GENETICS
- Alteration of retinal rod outer segment membrane fluidity in a rat model of Smith-Lemli-Opitz syndrome
- (2008) Kathleen Boesze-Battaglia et al. JOURNAL OF LIPID RESEARCH
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- (2008) David A. Ford et al. JOURNAL OF NEUROCHEMISTRY
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- (2008) Aurora Shehu et al. MOLECULAR ENDOCRINOLOGY
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- (2008) Karen Niederreither et al. NATURE REVIEWS GENETICS
- Genetics of P450 oxidoreductase: Sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations
- (2008) N. Huang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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