A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome. - Wikidata - wikimedia - TriplyDB

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome.

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome.

http://www.wikidata.org/entity/Q46781813

about

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.Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health.Plasma folate levels are associated with the lipoprotein profile: a retrospective database analysis.Malformation syndromes caused by disorders of cholesterol synthesis.Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome.Enhanced placental cholesterol efflux by fetal HDL in Smith-Lemli-Opitz syndrome.The liver plays a key role in whole body sterol accretion of the neonatal Golden Syrian hamster.No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome Review: Transport of maternal cholesterol to the fetal circulation.Alteration of retinal rod outer segment membrane fluidity in a rat model of Smith-Lemli-Opitz syndrome.Gene-environment interactions reveal a homeostatic role for cholesterol metabolism during dietary folate perturbation in mice.7-dehydrocholesterol efficiently supports Ret signaling in a mouse model of Smith-Opitz-Lemli syndrome.Transport of maternal cholesterol to the fetus is affected by maternal plasma cholesterol concentrations in the golden Syrian hamster Inability to fully suppress sterol synthesis rates with exogenous sterol in embryonic and extraembyronic fetal tissues Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.Steroidal triterpenes of cholesterol synthesis.Impact of sterol tilt on membrane bending rigidity in cholesterol and 7DHC-containing DMPC membranes Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome.A comparison of the packing behavior of egg phosphatidylcholine with cholesterol and biogenically related sterols in Langmuir monolayer films 7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome.Adrenal function in Smith-Lemli-Opitz syndrome.Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol

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P2860

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome.

http://www.wikidata.org/entity/Q46781813

description

2005 nî lūn-bûn

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2005年の論文

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2005年学术文章

@wuu

2005年学术文章

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2005年学术文章

@zh-cn

2005年学术文章

@zh-hans

2005年学术文章

@zh-my

2005年学术文章

@zh-sg

2005年學術文章

@yue

2005年學術文章

@zh-hant

name

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome.

@en

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome.

@nl

type

label

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome.

@en

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome.

@nl

prefLabel

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome.

@en

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome.

@nl

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JLR.M500306-JLR200

P1433

Journal of Lipid Research

P1476

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome.

@en

P2093

Edward F Labelle

http://www.w3.org/2001/XMLSchema#string

G Stephen Tint

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Kathy Boeze-Battaglia

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R Preston Mason

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Thomas N Tulenko

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William E Connor

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P2860

Molecular cloning and expression of the human delta7-sterol reductase

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

A RAPID METHOD OF TOTAL LIPID EXTRACTION AND PURIFICATION

Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

Localization of phospholipase C-gamma1 signaling in caveolae: importance in EGF-induced phosphoinositide hydrolysis but not in tyrosine phosphorylation.

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

Metabotropic glutamate type 1alpha receptor localizes in low-density caveolin-rich plasma membrane fractions.

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134-143

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scholarly article

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10.1194/JLR.M500306-JLR200

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1

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47

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Robert D. Steiner

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2005-10-28T00:00:00Z

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16258167

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