Malformation syndromes caused by disorders of cholesterol synthesis. - Test2 - elhamkhani - TriplyDB

Malformation syndromes caused by disorders of cholesterol synthesis.

Malformation syndromes caused by disorders of cholesterol synthesis.

http://www.wikidata.org/entity/Q34395171

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An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome Lipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndrome 7-Dehydrocholesterol-derived oxysterols and retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk Dysregulation of cholesterol balance in the brain: contribution to neurodegenerative diseases Hidden disease susceptibility and sexual dimorphism in the heterozygous knockout of Cyp51 from cholesterol synthesis Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo Cytochrome P450s in the synthesis of cholesterol and bile acids--from mouse models to human diseases.Plasma cholesterol-lowering and transient liver dysfunction in mice lacking squalene synthase in the liver Controlling cholesterol synthesis beyond 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR)Evolutionarily conserved Delta(25(27))-olefin ergosterol biosynthesis pathway in the alga Chlamydomonas reinhardtii Biosynthesis of cholesterol and other sterols The Effect of Small Molecules on Sterol Homeostasis: Measuring 7-Dehydrocholesterol in Dhcr7-Deficient Neuro2a Cells and Human Fibroblasts Structural basis for catalysis at the membrane-water interface.Polymorphisms of CYP51A1 from cholesterol synthesis: associations with birth weight and maternal lipid levels and impact on CYP51 protein structure.Ion-current-based proteomic profiling of the retina in a rat model of Smith-Lemli-Opitz syndrome.Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors.mTOR Inhibition Subdues Milk Disorder Caused by Maternal VLDLR Loss Early steps in steroidogenesis: intracellular cholesterol trafficking.Sterol intermediates of cholesterol biosynthesis inhibit hair growth and trigger an innate immune response in cicatricial alopecia.Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.Cholesterol in brain disease: sometimes determinant and frequently implicated.Cholesterol biosynthesis and homeostasis in regulation of the cell cycle.Probing lipid-protein adduction with alkynyl surrogates: application to Smith-Lemli-Opitz syndrome.Structure of an integral membrane sterol reductase from Methylomicrobium alcaliphilum.Disruption of astrocyte-neuron cholesterol cross talk affects neuronal function in Huntington's disease.Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome.Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle.Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.Profiling and Imaging Ion Mobility-Mass Spectrometry Analysis of Cholesterol and 7-Dehydrocholesterol in Cells Via Sputtered Silver MALDI Genetic alterations affecting cholesterol metabolism and human fertility Free radical oxidation of cholesterol and its precursors: Implications in cholesterol biosynthesis disorders.Impact of cholesterol on disease progression A compendium of expression patterns of cholesterol biosynthetic enzymes in the mouse embryo.Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome.Tunneling in tocopherol-mediated peroxidation of 7-dehydrocholesterol.

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P2860

Malformation syndromes caused by disorders of cholesterol synthesis.

http://www.wikidata.org/entity/Q34395171

description

2010 nî lūn-bûn

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2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Malformation syndromes caused by disorders of cholesterol synthesis.

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Malformation syndromes caused by disorders of cholesterol synthesis.

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Malformation syndromes caused by disorders of cholesterol synthesis.

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type

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Malformation syndromes caused by disorders of cholesterol synthesis.

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Malformation syndromes caused by disorders of cholesterol synthesis.

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Malformation syndromes caused by disorders of cholesterol synthesis.

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prefLabel

Malformation syndromes caused by disorders of cholesterol synthesis.

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Malformation syndromes caused by disorders of cholesterol synthesis.

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Malformation syndromes caused by disorders of cholesterol synthesis.

@nl

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Journal of Lipid Research

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Malformation syndromes caused by disorders of cholesterol synthesis.

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Forbes D Porter

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Gail E Herman

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P2860

Repression of smoothened by patched-dependent (pro-)vitamin D3 secretion

The human lamin B receptor/sterol reductase multigene family

cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress

Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis

Molecular cloning and mapping of a human cDNA (SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase

Molecular cloning and expression of the human delta7-sterol reductase

Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression

Regulation of cellular response to oncogenic and oxidative stress by Seladin-1

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6-34

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scholarly article

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10.1194/JLR.R009548

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1

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