Results 51 to 60 of about 1,719 (107)

Clinical Presentation and Diagnosis of Smith-Lemli-Opitz Syndrome: First Case Report from Sudan

Sudan Journal of Medical Sciences
Background: Smith-Lemli-Opitz syndrome (SLOS) is a congenital autosomal recessive disorder characterized by defective cholesterol metabolism, attributable to a deficiency of the enzyme 7-dehydrocholesterol reductase (DHCR7) caused by mutations in the ...
Rayan Khalid, Dalia Omer, Tarig Alsheikh, Imad Fadl-Elmula   +3 more
doaj   +1 more source

Variants in CPT1A, FADS1, and FADS2 are associated with higher levels of estimated plasma and erythrocyte delta 5 desaturases in Alaskan Eskimos

Frontiers in Genetics, 2012
The delta-5 and delta-6 desaturases (D5D and D6D), encoded by fatty acid desaturase 1 (FADS1) and 2 (FADS2) genes, respectively, are rate-limiting enzymes in the metabolism of ω-3 and ω-6 fatty acids.
V. Saroja eVoruganti, Paul B Higgins, Sven OE Ebbesson, John ekennish, Harald HH Goring, Karin eHaack, Sandra eLaston, Eugene eDrigalenko, Charlotte R Wenger, William eHarris, William eHarris, Richard R Fabsitz, Richard B Devereux, Jean eMacCluer, Joanne eCurran, Melanie eCarless, Matthew eJohnson, Eric eMoses, John eBlangero, Jason G Umans, Barbara V Howard, Shelley eCole, Anthony Gean Comuzzie   +22 more
doaj   +1 more source

Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study

Molecular Genetics and Metabolism Reports
Background: Smith-Lemli-Opitz syndrome (SLOS) is an inherited disorder of cholesterol biosynthesis associated with congenital malformations, growth delay, intellectual disability and behavior problems.
Ellen R. Elias, Lucas E. Orth, Amy Li, Libin Xu, Sara M. Jones, William B. Rizzo   +5 more
doaj   +1 more source

Genetic determinants of response to vitamin D supplementation

Frontiers in Nutrition
BackgroundGenetic variants at the vitamin D binding protein (GC), cytochrome P450 family 2 subfamily R member 1 (CYP2R1), and 7-dehydrocholesterol reductase (DHCR7) loci have been associated with serum 25-hydroxy vitamin D (25(OH)D) concentration, but ...
Nerea Alonso, Nerea Alonso, Inez Schoenmakers, Thomas Kuenzer, Ariane Willems, Huilin Jin, Terry J. Aspray, Terry J. Aspray, Stuart H. Ralston   +8 more
doaj   +1 more source

Impact of Breast Cancer on Ovarian Function: Dysregulation of Cholesterol Homeostasis in Cumulus Cells and Follicular Fluid. [PDF]

Cancers (Basel)
Poitrinal A, Dupont L, Dollet S, Kerksiek A, Chaput L, Pereira B, Lucas C, Riche L, Chansel-Debordeaux L, Prades M, Lütjohann D, Marteil G, Brugnon F.   +12 more
europepmc   +1 more source

Macrophage signaling and function are regulated by distinct sterol biochemistries. [PDF]

J Lipid Res
Yaeger JDW, Pradhan B, Kerkvliet JG, Lawver AG, Sengupta S, Thiex NW, Francis KR.   +6 more
europepmc   +1 more source

Serum Vitamin A and Vitamin E Levels in Individuals With Smith-Lemli-Opitz Syndrome. [PDF]

Am J Med Genet A
Bowman GR, Rahhal SN, Porter FD.
europepmc   +1 more source

From Sunlight to Signaling: Evolutionary Integration of Vitamin D and Sterol Metabolism. [PDF]

Metabolites
Raczyk M, Carlberg C.
europepmc   +1 more source

Smith-Lemli-Opitz Syndrome (SLOS)-Case Description and the Impact of Therapeutic Interventions on Psychomotor Development. [PDF]

J Clin Med
Kozera N, Śmigiel R, Rozensztrauch A.
europepmc   +1 more source

DHCR7 Promotes Liver Metastasis of Pancreatic Cancer Through PI3K-Akt Signaling Pathway. [PDF]

Cancer Sci
Xie Y, Zhou Z, Song J, Wang C, Ding Y, Qiu Y, Fang L, Cheng H.   +7 more
europepmc   +1 more source