Results 151 to 160 of about 16,062 (239)

Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. [PDF]

, 1993
Eran Leitersdorf, Ayeleth Reshef, Vardiella Meiner, R. Levitzki, S Schwartz, Eldad J. Dann, Neville Berkman, James J. Cali, Laurent Klapholz, V M Berginer   +9 more
openalex   +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

New Insights on Steroid Biotechnology [PDF]

, 2018
Fernandez-Cabezon, Lorena, Galán, Beatriz, García, José L.   +2 more
core   +1 more source

A Novel Compound Heterozygous <i>CYP27A1</i> Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family. [PDF]

Mol Syndromol
Cesur Baltacı HN, Sağlam Ada B, Yürür Kutlay N, Tükün A, Teber ST, Coşkun T.   +5 more
europepmc   +1 more source

Sterol 27-hydroxylase in bile acid biosynthesis. Mechanism of oxidation of 5 beta-cholestane-3 alpha,7 alpha,12 alpha,27-tetrol into 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestanoic acid

, 1993
I. Holmberg-Betsholtz, Erik Lund, Ingemar Björkhem, Kjell Wikvall   +3 more
openalex   +1 more source

Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis.

, 1991
James J. Cali, David W. Russell
openalex   +1 more source

Heterozygous <i>CYP27B1</i> c.262delG pathogenic variant and its impact on vitamin D metabolites and phosphocalcic profile in humans. [PDF]

Front Physiol
Girard L, Fortin CA, Plourde R, Desgagné V, Guérin R, Albert C, Desmeules M, Perron P, Bouchard L.   +8 more
europepmc   +1 more source

FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy. [PDF]

Health Sci Rep
Jalal L, Basaria AAA, Yokolo H.
europepmc   +1 more source

Regulatory roles of bioactive lipids in vascular homeostasis and remodeling. [PDF]

Med Rev (2021)
Yang J, Xiao H, Zhang Z, Zhang L, Zhang X.   +4 more
europepmc   +1 more source

An autopsy case of gallbladder cancer developing in a Japanese man with cerebrotendinous xanthomatosis: genetic analysis of the sterol 27-hydroxylase and p53 genes

, 2003
Hiroya Kato, Sukenari Koyabu, Shigenori Aoki, Takuya Tamai, Masahiro Sugawa, Masatoshi Watanabe, Taizo Shiraishi   +6 more
openalex   +1 more source