Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay
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Identification of novel AR-targeted microRNAs mediating androgen signalling through critical pathways to regulate cell viability in prostate cancerCholesterol metabolism is required for intracellular hedgehog signal transduction in vivoCompound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataractControlling cholesterol synthesis beyond 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR)MicroRNA-223 coordinates cholesterol homeostasisTwo C4-sterol methyl oxidases (Erg25) catalyse ergosterol intermediate demethylation and impact environmental stress adaptation in Aspergillus fumigatus.Nuclear hormone receptors put immunity on sterols.Identification of natural RORγ ligands that regulate the development of lymphoid cellsThe loss of Tm7sf gene accelerates skin papilloma formation in miceAnalysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.Effects of maternal immune activation on gene expression patterns in the fetal brainDownregulation of cholesterol biosynthesis genes in the forebrain of ERCC1-deficient miceCharacterisation of Transcriptional Changes in the Spinal Cord of the Progressive Experimental Autoimmune Encephalomyelitis Biozzi ABH Mouse Model by RNA Sequencing.Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXRTargeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders.Changes in gene expression within the ventral tegmental area following repeated excessive binge-like alcohol drinking by alcohol-preferring (P) rats.The role of sterol-C4-methyl oxidase in epidermal biologyHeritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.Treatment of Smith-Lemli-Opitz syndrome and other sterol disordersPathogenesis-based therapies in ichthyoses.A comprehensive machine-readable view of the mammalian cholesterol biosynthesis pathway.Sterol metabolism disorders and neurodevelopment-an update.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.Sterol Methyl Oxidases Affect Embryo Development via Auxin-Associated Mechanisms.Human hepatic metabolism of the anti-osteoporosis drug eldecalcitol involves sterol C4-methyl oxidase.Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia.Liver and the defects of cholesterol and bile acids biosynthesis: Rare disorders many diagnostic pitfalls.Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolism: Therapeutic implications for topical treatment of these disorders.Arabidopsis ERG28 tethers the sterol C4-demethylation complex to prevent accumulation of a biosynthetic intermediate that interferes with polar auxin transport.Suppression of brain cholesterol synthesis in male Mecp2-deficient mice is age dependent and not accompanied by a concurrent change in the rate of fatty acid synthesis.
P2860
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P2860
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay
description
2011 nî lūn-bûn
@nan
2011 թուականի Մարտին հրատարակուած գիտական յօդուած
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2011 թվականի մարտին հրատարակված գիտական հոդված
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
@zh-my
2011年学术文章
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2011年學術文章
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name
Mutations in the human SC4MOL ...... haly, and developmental delay
@ast
Mutations in the human SC4MOL ...... haly, and developmental delay
@en
Mutations in the human SC4MOL ...... haly, and developmental delay
@nl
type
label
Mutations in the human SC4MOL ...... haly, and developmental delay
@ast
Mutations in the human SC4MOL ...... haly, and developmental delay
@en
Mutations in the human SC4MOL ...... haly, and developmental delay
@nl
prefLabel
Mutations in the human SC4MOL ...... haly, and developmental delay
@ast
Mutations in the human SC4MOL ...... haly, and developmental delay
@en
Mutations in the human SC4MOL ...... haly, and developmental delay
@nl
P2093
P2860
P356
P1476
Mutations in the human SC4MOL ...... haly, and developmental delay
@en
P2093
Abbe N Vallejo
Dhanya Ramachandran
Drazen Jukic
Jacqueline J Hoover
Joshua J Michel
K Michael Gibson
Laura Ferris
Lisa E Kratz
Lynne A Wolfe
P2860
P304
P356
10.1172/JCI42650
P407
P577
2011-03-01T00:00:00Z