Results 61 to 70 of about 23,617 (228)
The FASEB Journal, 2012 7‐Dehydrocholesterol reductase (DHCR7) catalyzes the final step in cholesterol synthesis by reducing the 7–8 double bond of 7‐dehydrocholesterol. In skin cells 7‐dehydrocholesterol also can be converted to cholecalciferol (vitamin D3) by ultraviolet radiation, providing a second pathway for 7‐dehydrocholesterol metabolism in these cells.
Ling Zou, Todd D Porter
openaire +1 more source
Journal of Lipid Research, 1999 The Smith-Lemli-Opitz syndrome (SLOS) is a congenital birth defect syndrome caused by a deficiency of 3β-hydroxysterol Δ7-reductase, the final enzyme in the cholesterol biosynthetic pathway.
Akira Honda +9 more
doaj +1 more source
Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]
, 2019 The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A +9 more
core +1 more source
Sterols in blood of normal and Smith-Lemli-Opitz subjects
Journal of Lipid Research, 2001 Smith-Lemli-Opitz syndrome (SLOS) is a hereditary disorder in which a defective gene encoding 7-dehydrocholesterol reductase causes the accumulation of noncholesterol sterols, such as 7- and 8-dehydrocholesterol.
Benfang Ruan +10 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
Italian Journal of Pediatrics, 2020 Background Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic neurodevelopmental disorder caused by the defect in the 7-dehydrocholesterol reductase.
Maurizio Delvecchio +10 more
doaj +1 more source
The 3‐Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary
Autism Research, EarlyView.ABSTRACT Autism spectrum disorder (ASD) is a highly heritable yet environmentally sensitive neurodevelopmental condition whose biological heterogeneity has resisted a unifying causal explanation for over 100 years. The 3‐hit metabolic signaling model proposes that ASD arises from abnormal persistence of an evolutionarily conserved stress‐response ...
Robert K. Naviaux
wiley +1 more source
DHCEO accumulation is a critical mediator of pathophysiology in a Smith–Lemli–Opitz syndrome model
Neurobiology of Disease, 2012 Smith–Lemli–Opitz syndrome (SLOS) is an inborn error of metabolism caused by defective cholesterol biosynthesis. Mutations within the gene encoding 7-dehydrocholesterol reductase (DHCR7), the last enzyme in the pathway, lead to the accumulation of 7 ...
Libin Xu +6 more
doaj +1 more source
The effect of high-dose vitamin D supplementation on muscular function and quality of life in postmenopausal women—A randomized controlled trial [PDF]
, 2017 Objective: Observational studies have suggested positive associations between serum 25-hydroxyvitamin D (25(OH)D) levels and muscular strength, balance and quality of life.
Cashman, Kevin D. +3 more
core +1 more source
The FEBS Journal, EarlyView.Fetal growth restriction is associated with placental metabolic adaptations. In small‐for‐gestational‐age placenta (SGA), cholesterol receptors and steroidogenic enzymes are upregulated, enhancing steroidogenesis. NAD salvage pathway is also increased to support NADP+/NADPH requirements.
Serena Xodo +4 more
wiley +1 more source