Results 91 to 100 of about 13,198 (194)
Smith-Lemli-Opitz syndrome (SLOS) is caused by mutations in the gene encoding 3β-hydroxysterol-Δ7-reductase and as a result of this defect, 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC) accumulate in the fluids and tissues of patients ...
Wei Liu +7 more
doaj +1 more source
The Photochemical Dehydrogenation of Ergosterol and 7-Dehydrocholesterol [PDF]
Abstract Ergopinacone and 7-dehydrocholesterol-pinacone have been prepared by two different methods, viz., the boiling method and the carbon dioxide method. The products obtained by the two methods as well as diacetates and dibenzoates derived from them have been compared.
openaire +1 more source
ALDOA‐depletion‐mediated glycolytic reprogramming promotes autophagy‐mediated degradation of MBOAT2, increasing the ratio of phospholipids containing pro‐ferroptotic polyunsaturated fatty acids over anti‐ferroptotic monounsaturated fatty acids, and thus sensitizing cancer cells to ferroptosis.
Pengqi Wang +6 more
wiley +1 more source
DHCEO accumulation is a critical mediator of pathophysiology in a Smith–Lemli–Opitz syndrome model
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
Smith Lemli Opitz syndrome: a case report
INTRODUCTION; Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition caused by deficiency of the enzyme 7-dehydrocholesterol-delta 7-reductase.
saima ali, Saffiullah Khalil, Liaqat Ali
doaj
A new sensitive and specific method for the evaluation of 3 beta-hydroxysteroid delta 7-reductase activity, the defective enzyme in the Smith-Lemli-Opitz (SLO) syndrome, is described.
M Honda +6 more
doaj +1 more source
The control of calcium metabolism by parathyroid hormone, calcitonin and vitamin D [PDF]
Advances in analysis of chemistry and physiology of parathyroid hormone, calcitonin, and Vitamin D are described along with development of techniques in radioassay methods.
Potts, J. T., Jr.
core +1 more source
Sterolomics: State of the Art, Developments, Limitations and Challenges [PDF]
Sterolomics can be thought of as the quantitative determination of the entire complement of molecules based on the cyclopentanoperhydrophenanthrene skeleton in a system. Mass spectrometry is the dominant analytical technology employed. In this article we
Abdel-Khalik +21 more
core +1 more source
Smith-Lemli-Opitz syndrome (SLOS) is a metabolic and developmental disorder caused by mutations in the gene encoding the enzyme 7-dehydrocholesterol reductase (Dhcr7).
Zeljka Korade +3 more
doaj +1 more source
Solar ultraviolet-B radiation and vitamin D: a cross-sectional population-based study using data from the 2007 to 2009 Canadian Health Measures Survey [PDF]
Background: Exposure to solar ultraviolet-B (UV-B) radiation is a major source of vitamin D3. Chemistry climate models project decreases in ground-level solar erythemal UV over the current century.
A Gozdzik +50 more
core +2 more sources

