Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome. - Wikidata - thesis-toulmin - TriplyDB

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.

http://www.wikidata.org/entity/Q32069371

about

Recent insights into the Smith-Lemli-Opitz syndrome.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 Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome 7-Dehydrocholesterol-derived oxysterols and retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome Molecular basis of cleft palates in mice Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome Severe facial clefting in Insig-deficient mouse embryos caused by sterol accumulation and reversed by lovastatin Functional significance of SRJ domain mutations in CITED2 Malformation syndromes due to inborn errors of cholesterol synthesis Inhibition of HMG CoA reductase reveals an unexpected role for cholesterol during PGC migration in the mouse.Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice.Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications.Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome.Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features The role of cholesterol metabolism and various steroid abnormalities in autism spectrum disorders: A hypothesis paper Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors.Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome).Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome Malformation syndromes caused by disorders of cholesterol synthesis.Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome.Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models.Disruption of the gene encoding 3beta-hydroxysterol Delta-reductase (Tm7sf2) in mice does not impair cholesterol biosynthesis.Mouse behavioral assays relevant to the symptoms of autism.The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols.Cholesterol precursors and facial clefting.Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation.Inhibitors of 7-Dehydrocholesterol Reductase: Screening of a Collection of Pharmacologically Active Compounds in Neuro2a Cells.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.Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness.Dense-core secretory granule biogenesis.

P2860

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P2860

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.

http://www.wikidata.org/entity/Q32069371

description

2001 nî lūn-bûn

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2001 թուականի Մարտին հրատարակուած գիտական յօդուած

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2001 թվականի մարտին հրատարակված գիտական հոդված

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Battaile KP

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