Results 81 to 90 of about 1,240 (187)

An Unusual Occurrence of Hepatic Granulomas and Secondary Sitosterolemia in Turner Syndrome [PDF]

, 2015
Although abnormal liver function tests occur in 50–80% of cases with Turner syndrome, there are no previous reports of overt hepatic disease or hepatic granulomas associated with Turner’s syndrome. We report three cases of Turner syndrome associated with
JayaKrishna Chintanaboina, JayaKrishna Chintanaboina, Pragnesh R. Shah, Thomas R. Riley   +3 more
core   +1 more source

Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8

Journal of Lipid Research, 2002
Mammalian physiological processes can distinguish between dietary cholesterol and non-cholesterol, retaining very little of the non-cholesterol in their bodies.
Kangmo Lu, Mi-Hye Lee, Hongwei Yu, Yuehua Zhou, Shelley A. Sandell, Gerald Salen, Shailendra B. Patel   +6 more
doaj   +1 more source

Accumulation of Dietary Cholesterol in Sitosterolemia Caused by Mutations in Adjacent ABC Transporters

, 2000
In healthy individuals, acute changes in cholesterol intake produce modest changes in plasma cholesterol levels. A striking exception occurs in sitosterolemia, an autosomal recessive disorder characterized by increased intestinal absorption ...
Joshua Schultz, Gregory A. Graf, Hui Tian, Peter Kwiterovich, Bei Shan, Liqing Yu, Helen H. Hobbs, Knut E. Berge, Nick V. Grishin, Robert Barnes   +9 more
core   +1 more source

Image_4_Red blood cells from patients with sitosterolemia exhibit impaired membrane lipid composition and distribution and decreased deformability.jpeg

, 2023
Sitosterolemia is a metabolic disorder leading to excessive accumulation of phytosterols. Hemolytic stomatocytosis and macrothrombocytopenia are part of the clinical picture.
Jeroen B. van der Net (7382099), Ad Koster (14728030), Brigitte A. van Oirschot (14728027), Giulio G. Muccioli (199353), Eric Mignolet (329701), Minke A. E. Rab (14728024), Richard van Wijk (10180793), Romano Terrasi (9082928), Anne-Sophie Cloos (9082913), Kelly Kleinen (14728033), Donatienne Tyteca (228976), Patrick Van Der Smissen (228969), Yvan Larondelle (217999)   +12 more
core   +1 more source

ACAT2 and ABCG5/G8 are both required for efficient cholesterol absorption in mice: evidence from thoracic lymph duct cannulation[S]

Journal of Lipid Research, 2012
The metabolic fate of newly absorbed cholesterol and phytosterol is orchestrated through adenosine triphosphate-binding cassette transporter G5 and G8 heterodimer (G5G8), and acyl CoA:cholesterol acyltransferase 2 (ACAT2). We hypothesized that intestinal
Tam M. Nguyen, Janet K. Sawyer, Kathryn L. Kelley, Matthew A. Davis, Carol R. Kent, Lawrence L. Rudel   +5 more
doaj   +1 more source

Image_1_Red blood cells from patients with sitosterolemia exhibit impaired membrane lipid composition and distribution and decreased deformability.jpeg

, 2023
Sitosterolemia is a metabolic disorder leading to excessive accumulation of phytosterols. Hemolytic stomatocytosis and macrothrombocytopenia are part of the clinical picture.
Jeroen B. van der Net (7382099), Ad Koster (14728030), Brigitte A. van Oirschot (14728027), Giulio G. Muccioli (199353), Eric Mignolet (329701), Minke A. E. Rab (14728024), Richard van Wijk (10180793), Romano Terrasi (9082928), Anne-Sophie Cloos (9082913), Kelly Kleinen (14728033), Donatienne Tyteca (228976), Patrick Van Der Smissen (228969), Yvan Larondelle (217999)   +12 more
core   +1 more source

Analysis of plant sterols and oxysterols in the serum of patients with sitosterolemia under different drug treatments [PDF]

, 2007
Sitosterolemia is a very rare inherited disease, characterized biochemically by elevated plasma levels of plant sterols and moderatly increase in the level of cholesterol and clinically by premature atherosclerosis due to genetic defects in either one of
Khalf, Abdurraouf
core  

Table_1_Red blood cells from patients with sitosterolemia exhibit impaired membrane lipid composition and distribution and decreased deformability.docx

, 2023
Sitosterolemia is a metabolic disorder leading to excessive accumulation of phytosterols. Hemolytic stomatocytosis and macrothrombocytopenia are part of the clinical picture.
Jeroen B. van der Net (7382099), Ad Koster (14728030), Brigitte A. van Oirschot (14728027), Giulio G. Muccioli (199353), Eric Mignolet (329701), Minke A. E. Rab (14728024), Richard van Wijk (10180793), Romano Terrasi (9082928), Anne-Sophie Cloos (9082913), Kelly Kleinen (14728033), Donatienne Tyteca (228976), Patrick Van Der Smissen (228969), Yvan Larondelle (217999)   +12 more
core   +1 more source

Image_2_Red blood cells from patients with sitosterolemia exhibit impaired membrane lipid composition and distribution and decreased deformability.jpeg

, 2023
Sitosterolemia is a metabolic disorder leading to excessive accumulation of phytosterols. Hemolytic stomatocytosis and macrothrombocytopenia are part of the clinical picture.
Jeroen B. van der Net (7382099), Ad Koster (14728030), Brigitte A. van Oirschot (14728027), Giulio G. Muccioli (199353), Eric Mignolet (329701), Minke A. E. Rab (14728024), Richard van Wijk (10180793), Romano Terrasi (9082928), Anne-Sophie Cloos (9082913), Kelly Kleinen (14728033), Donatienne Tyteca (228976), Patrick Van Der Smissen (228969), Yvan Larondelle (217999)   +12 more
core   +1 more source

Two Genes That Map to the STSL Locus Cause Sitosterolemia: Genomic Structure and Spectrum of Mutations Involving Sterolin-1 and Sterolin-2, Encoded by ABCG5 and ABCG8, Respectively

, 2001
Sitosterolemia is a rare autosomal recessive disorder characterized by (a) intestinal hyperabsorption of all sterols, including cholesterol and plant and shellfish sterols, and (b) impaired ability to excrete sterols into bile. Patients with this disease
Hazard, Starr, Brewer, H. Bryan, Mietinnen, Tatu, Brooks-Wilson, Angela, Ose, Leiv, Kojima, Hideto, Salen, Gerald, Hidaka, Hideki, Bjorkhem, Ingemar, Patel, Shailendra B., Dean, Michael, Lee, Mi-Hye, Bruckert, Eric, Srivastava, Anand, Lu, Kangmo, Stalenhoef, Anton F.H., Pandya, Arti   +16 more
core   +2 more sources