Results 91 to 100 of about 1,240 (187)

From Xanthomas to Genetic Diagnosis: A Case Report of Sitosterolemia in an Infant with a Homozygous ABCG5 c.1166G>A (p.Arg389His) Variant

Clinical, Cosmetic and Investigational Dermatology
Yu Deng,* Henghong Wang,* Dongju Tang,* Chang-En Peng* Department of Dermatology, Chengdu Pidu District Hospital of Traditional Chinese Medicine, Chengdu, Sichuan, People’s Republic of China*These authors ...
Deng Y, Wang H, Tang D, Peng CE
doaj  

Down-regulation of cholesterol biosynthesis in sitosterolemia: diminished activities of acetoacetyl-CoA thiolase, 3-hydroxy-3-methylglutaryl-CoA synthase, reductase, squalene synthase, and 7-dehydrocholesterol Δ7-reductase in liver and mononuclear leukocytes

Journal of Lipid Research, 1998
Sitosterolemia is a recessively inherited disorder characterized by abnormally increased plasma and tissue plant sterol concentrations. Patients have markedly reduced whole body cholesterol biosynthesis associated with suppressed hepatic, ileal, and ...
Akira Honda, Gerald Salen, Lien B. Nguyen, G. Stephen Tint, Ashok K. Batta, Sarah Shefer   +5 more
doaj   +1 more source

Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis.

Journal of Lipid Research, 1985
We have measured plasma sterol composition in 14 subjects with sitosterolemia and xanthomatosis. In addition to elevated plasma phytosterol (campesterol 16 +/- 7 mg/dl and sitosterol 35 +/- 16 mg/dl) and normal to moderately high cholesterol levels (258 +
G Salen, P O Kwiterovich, Jr, S Shefer, G S Tint, I Horak, V Shore, B Dayal, E Horak   +7 more
doaj   +1 more source

Tendon xanthomas as indicators of atherosclerotic burden on coronary arteries

Indian Heart Journal, 2013
The presence of tendon xanthomas is an almost certain indicator of familial hypercholesterolemia (FH). They also reflect coronary atherosclerotic burden and therefore must be treated aggressively.
Shivanand Patil, Jayashree Kharge, Vittal Bagi, Rangaraj Ramalingam   +3 more
doaj   +1 more source

.BETA.-Sitosterolemia with Generalized Eruptive Xanthomatosis.

Endocrine Journal, 1997
The clinical features of the first case of a patient with sitosterolemia and generalized eruptive xanthomatosis are described. A six-year-old girl with generalized eruption was referred to the lipid clinic because of the high plasma cholesterol levels determined by the enzymatic method.
HIDAKA, HIDEKI, SUGIURA, HISATSUGU, NAKAMURA, TAKA-AKI, KOJIMA, HIDETO, FUJITA, MASAHIRO, SUGIE, NOBUO, OKABE, HIDETOSHI, NISHIO, YOSHIHIKO, MAEGAWA, HIROSHI, KASHIWAGI, ATSUNORI, KIKKAWA, RYUICHI   +10 more
openaire   +3 more sources

Sitosterolemia in ABC-transporter G5-deficient mice is aggravated on activation of the liver-X receptor

, 2004
Background & Aims: Mutations in either adenosine triphosphate-binding cassette (ABC) half-transporter G5 or G8 cause sitosterolemia. It has been proposed that ABCG5/ABCG8 heterodimers mediate secretion of plant sterols and cholesterol by hepatocytes into
Schwartz, M, Shan, Bei, Shan, B, van der Sluijs, F, Plosch, T, Kema, IP, Bloks, VW, Plosch, T; id_orcid, Schwartz, Margrit, Kema, Ido P., Kema, IP; id_orcid, Groen, AK, Siegler, K, Berdy, Sara, Schwarz, Margrit, Kuipers, F, van der Sluijs, Fjodor, Siegler, Karen, Terasawa, Y, Kuipers, F; id_orcid, Kuipers, Folkert, Plösch, Torsten, Groen, Albert K., Terasawa, Yuko, Berdy, S, Bloks, Vincent W.   +25 more
core   +1 more source

Sitosterolemia with double variant in ABCG8 gene: a case report

Journal of Rare Diseases
Introduction Sitosterolemia is an autosomal recessive genetic disorder characterized by increased intestinal absorption of plant sterols. It is caused by pathogenic variants in the ABCG5 or ABCG8 genes, which encode subunits of transporters belonging to ...
Sara Isabel Noreña Gómez, Aura María Salazar-Solarte, María del Pilar Pereira Gómez, Susana Gómez Rojas, Juan Manuel Alfaro Velásquez   +4 more
doaj   +1 more source

Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis.

Journal of Lipid Research, 1985
Tissue sterol composition was determined in an 18-year-old male with sitosterolemia with xanthomatosis who died suddenly and whose coronary and aortic vessels showed extensive atherosclerosis and, for comparison, in an 18-year-old male with minimal ...
G Salen, I Horak, M Rothkopf, J L Cohen, J Speck, G S Tint, V Shore, B Dayal, T Chen, S Shefer   +9 more
doaj   +1 more source

Sitosterolemia In iberoamerican countries: 16 new cases and phenotype genotype analysis

Background: Sitosterolemia is a rare autosomal recessive lipid disorder caused by biallelic pathogenic variants in ABCG5 or ABCG8 genes. It is characterized by elevated plasma plant sterol concentrations, xanthomas, and an increased risk of premature ...
Vilagut, Ferrán Trías, Ernaga, Ander, Vilarinho, Laura, Volpe, Camila Garcia, Martins, Paula, Vasquez, Norma Alejandra, Miranda, Beatriz, Graça, Rafael, Aguiar, Patrício, Alves, Ana Catarina, Medeiros, Ana Margarida, Valdivielso, Pedro, Toledo, Maria J. Benitez, Dias, Aureliano Jorge, Apellaniz-Ruiz, Maria, Figueroa, Nahún Muñoz, Chora, Joana Rita, Alegre-González, Diana, Dell'Oca, Nicolás, Bañares, Virginia G., Araujo, Maria Beatriz, Ferreira, Ana Cristina, Bourbon, Mafalda, Meavilla, Silvia, Soler, Cristina, Marado, Diana, Padeira, Gonçalo, Rubi, Rodrigo, Gonçalves, Filipa Sousa, Casañas, Marta, Lozano, José Mosquera, Reyes, Ximena   +31 more
core   +1 more source

Publication Only

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source