Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
about
Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndromeThe genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disordersCholesterol balance in prion diseases and Alzheimer's diseaseMammalian sex determination—insights from humans and mice.Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic reviewInduction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7.Causes of death and associated conditions (Codac): a utilitarian approach to the classification of perinatal deaths.Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiencyActivation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications.Oxysterols from free radical chain oxidation of 7-dehydrocholesterol: product and mechanistic studies.The role of cholesterol metabolism and various steroid abnormalities in autism spectrum disorders: A hypothesis paperIsoprenoids, small GTPases and Alzheimer's disease.Desmosterol in brain is elevated because DHCR24 needs REST for Robust Expression but REST is poorly expressed.New technologies for the identification of novel genetic markers of disorders of sex development (DSD).Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome.Liver Med23 ablation improves glucose and lipid metabolism through modulating FOXO1 activity.Antioxidant supplementation ameliorates molecular deficits in Smith-Lemli-Opitz syndromeMalformation syndromes caused by disorders of cholesterol synthesis.Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.Cholesterol biosynthesis and homeostasis in regulation of the cell cycle.Structure of an integral membrane sterol reductase from Methylomicrobium alcaliphilum.Autism associated gene, engrailed2, and flanking gene levels are altered in post-mortem cerebellum.Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.7-Dehydrocholesterol reductase activity is independent of cytochrome P450 reductaseInhibitors of 7-Dehydrocholesterol Reductase: Screening of a Collection of Pharmacologically Active Compounds in Neuro2a Cells.Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.Dhcr7 Regulates Palatal Shelf Fusion through Regulation of Shh and Bmp2 ExpressionCharacterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome7-dehydrocholesterol efficiently supports Ret signaling in a mouse model of Smith-Opitz-Lemli syndrome.Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome.Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level.A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.Novel associations in disorders of sex development: findings from the I-DSD Registry.Probes for protein adduction in cholesterol biosynthesis disorders: Alkynyl lanosterol as a viable sterol precursor.Retinal degeneration in a rat model of Smith-Lemli-Opitz Syndrome: thinking beyond cholesterol deficiency.Membrane rafts in Alzheimer's disease beta-amyloid production.Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments.Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome.
P2860
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P2860
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
description
2008 nî lūn-bûn
@nan
2008 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
@ast
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
@en
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
@nl
type
label
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
@ast
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
@en
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
@nl
prefLabel
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
@ast
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
@en
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
@nl
P356
P1476
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
@en
P2093
Forbes D Porter
P2860
P2888
P304
P356
10.1038/EJHG.2008.10
P577
2008-02-20T00:00:00Z