Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome
about
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesisSterol regulatory element-binding protein-2 interacts with hepatocyte nuclear factor-4 to enhance sterol isomerase gene expression in hepatocytesIFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress responseAutosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor geneMutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndromeMutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.Recent insights into the Smith-Lemli-Opitz syndrome.Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolismLathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturaseThe sigma receptor: evolution of the concept in neuropsychopharmacologyLate gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndromeCholesterol metabolism is required for intracellular hedgehog signal transduction in vivoCholesterol biosynthesis from lanosterol: molecular cloning, chromosomal localization, functional expression and liver-specific gene regulation of rat sterol delta8-isomerase, a cholesterogenic enzyme with multiple functions7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndromeMalformation syndromes due to inborn errors of cholesterol synthesisLethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis.Mutations in the human DHCR7 gene.Isolation of differentially expressed genes in NPM-ALK-positive anaplastic large cell lymphoma.Identification of candidate epigenetic biomarkers for ovarian cancer detection.Oxysterols from free radical chain oxidation of 7-dehydrocholesterol: product and mechanistic studies.Skin healing and scale regeneration in fed and unfed sea bream, Sparus auratus.Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.Zymosterol is isomerized to cholesta-7;24-dien-3beta-olMalformation syndromes caused by disorders of cholesterol synthesis.Molecular-pathogenetic classification of genetic disorders of the skeleton.TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic diseaseEmopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasisOrtho-surgical management of a Conradi-Hünermann syndrome patient: rare case report.A Botrytis cinerea emopamil binding domain protein, required for full virulence, belongs to a eukaryotic superfamily which has expanded in euascomycetes.Defects of cholesterol biosynthesis.C. elegans: an invaluable model organism for the proteomics studies of the cholesterol-mediated signaling pathway.Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders.A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature.Lipoproteins, cholesterol homeostasis and cardiac health.Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.Pathogenesis-based therapies in ichthyoses.Steroidal triterpenes of cholesterol synthesis.A comprehensive machine-readable view of the mammalian cholesterol biosynthesis pathway.
P2860
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P2860
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome
description
1999 nî lūn-bûn
@nan
1999 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Mutations in the gene encoding ...... ant Conradi-Hünermann syndrome
@ast
Mutations in the gene encoding ...... ant Conradi-Hünermann syndrome
@en
Mutations in the gene encoding ...... ant Conradi-Hünermann syndrome
@en-gb
Mutations in the gene encoding ...... ant Conradi-Hünermann syndrome
@nl
type
label
Mutations in the gene encoding ...... ant Conradi-Hünermann syndrome
@ast
Mutations in the gene encoding ...... ant Conradi-Hünermann syndrome
@en
Mutations in the gene encoding ...... ant Conradi-Hünermann syndrome
@en-gb
Mutations in the gene encoding ...... ant Conradi-Hünermann syndrome
@nl
prefLabel
Mutations in the gene encoding ...... ant Conradi-Hünermann syndrome
@ast
Mutations in the gene encoding ...... ant Conradi-Hünermann syndrome
@en
Mutations in the gene encoding ...... ant Conradi-Hünermann syndrome
@en-gb
Mutations in the gene encoding ...... ant Conradi-Hünermann syndrome
@nl
P2093
P356
P1433
P1476
Mutations in the gene encoding ...... ant Conradi-Hünermann syndrome
@en
P2093
Braverman N
Moebius FF
P2888
P304
P356
10.1038/10357
P407
P50
P577
1999-07-01T00:00:00Z
P5875
P6179
1033123640