Smith-Lemli-Opitz syndrome and the DHCR7 gene. - Wikidata - wikimedia - TriplyDB

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

http://www.wikidata.org/entity/Q35197696

about

Lipid rafts, cholesterol, and the brain Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review Comparison of the liquid-ordered bilayer phases containing cholesterol or 7-dehydrocholesterol in modeling Smith-Lemli-Opitz syndrome Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome.Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features HFE gene variants, iron, and lipids: a novel connection in Alzheimer's disease The ins and outs of cholesterol in the vertebrate retina.The adrenal.The role of cholesterol in rod outer segment membranes.Cholesterol: its regulation and role in central nervous system disorders.Lipids and the pathogenesis of Alzheimer's disease: is there a link?Neu-Laxova syndrome: a case report and review of the literature.Hedgehog signaling and steroidogenesis.Developing a Predictive Gene Classifier for Autism Spectrum Disorders Based upon Differential Gene Expression Profiles of Phenotypic Subgroups.Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome.Molecular consequences of altered neuronal cholesterol biosynthesis.A case of Smith-Lemli-Opitz Syndrome, defect of cholesterol biosynthesis.The SAGA complex, together with transcription factors and the endocytic protein Rvs167p, coordinates the reprofiling of gene expression in response to changes in sterol composition in Saccharomyces cerevisiae.Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.Genetic Overview of Syndactyly and Polydactyly.

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P2860

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

http://www.wikidata.org/entity/Q35197696

description

2003 nî lūn-bûn

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2003 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2003 թվականի մայիսին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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name

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

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Smith-Lemli-Opitz syndrome and the DHCR7 gene.

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type

label

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

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Smith-Lemli-Opitz syndrome and the DHCR7 gene.

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prefLabel

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

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Smith-Lemli-Opitz syndrome and the DHCR7 gene.

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J.1469-1809.2003.00034.X

P1433

Annals of Human Genetics

P1476

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

@en

P2093

Jira PE

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Sengers RC

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Smeitink JA

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Wanders RJ

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Waterham HR

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Wevers RA

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P2860

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

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

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 potential catalytic site revealed by the 1.7-A crystal structure of the amino-terminal signalling domain of Sonic hedgehog

Crystal structure of a Hedgehog autoprocessing domain: homology between Hedgehog and self-splicing proteins

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping

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269-280

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scholarly article

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10.1046/J.1469-1809.2003.00034.X

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Pt 3

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67

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2003-05-01T00:00:00Z

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10616279

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12914579

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