Results 41 to 50 of about 1,240 (187)

The missense mutation in Abcg5 gene in spontaneously hypertensive rats (SHR) segregates with phytosterolemia but not hypertension

BMC Genetics, 2005
Background Sitosterolemia is a recessively inherited disorder in humans that is associated with premature atherosclerotic disease. Mutations in ABCG5 or ABCG8, comprising the sitosterolemia locus, STSL, are now known to cause this disease.
Tso Patrick, Yu Hongwei, Ullian Michael E, Fitzgibbon Wayne R, Zheng Shuqin, Batta Ashok, Chen Jianliang, Salen Gerald, Patel Shailendra B   +8 more
doaj   +1 more source

Two Cases of Sitosterolemia Falsely Diagnosed as Familial Hypercholesterolemia: Could Digging Deeper Have Avoided Harm? [PDF]

JCEM Case Rep
Alexis Baass, Martine Paquette, Simon-Pierre Guay   +2 more
exaly   +2 more sources

Dietary xenosterols lead to infertility and loss of abdominal adipose tissue in sterolin-deficient mice[S]

Journal of Lipid Research, 2013
The investigation of the human disease sitosterolemia (MIM 210250) has shed light not only on the pathways by which dietary sterols may traffic but also on how the mammalian body rids itself of cholesterol and defends against xenosterols.
Curzio Solca, G. Stephen Tint, Shailendra B. Patel   +2 more
doaj   +1 more source

Thematic Review Series: Lipid Transfer Proteins ABCG5 and ABCG8: more than a defense against xenosterols

Journal of Lipid Research, 2018
The elucidation of the molecular basis of the rare disease, sitosterolemia, has revolutionized our mechanistic understanding of how dietary sterols are excreted and how cholesterol is eliminated from the body.
Shailendra B. Patel, Gregory A. Graf, Ryan E. Temel   +2 more
doaj   +1 more source

Diagnosis and Management of Sitosterolemia 2021

Journal of Atherosclerosis and Thrombosis, 2021
Sitosterolemia is an inherited metabolic disorder characterized by increased levels of plant sterols, such as sitosterol. This disease is caused by loss-of-function genetic mutations in ATP-binding cassette (ABC) subfamily G member 5 or member 8 (ABCG5 or ABCG8, respectively), both of which play important roles in selective excretion of plant sterols ...
Tada, Hayato, Nomura, Akihiro, Ogura, Masatsune, Ikewaki, Katsunori, Ishigaki, Yasushi, Inagaki, Kyoko, Tsukamoto, Kazuhisa, Dobashi, Kazushige, Nakamura, Kimitoshi, Hori, Mika, Matsuki, Kota, Yamashita, Shizuya, Yokoyama, Shinji, Kawashiri, Masa-aki, Harada-Shiba, Mariko   +14 more
openaire   +3 more sources

Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia [PDF]

, 2008
Mutations in either ABCG5 or ABCG8 cause sitosterolemia, an inborn error of metabolism characterized by high plasma plant sterol concentrations. Recently, macrothrombocytopenia was described in a number of sitosterolemia patients, linking hematological ...
Drayer, A. Lyndsay, Sauer, Pieter J. J., Blom, Nel, De Haan, Gerald; id_orcid, Olthof, Sandra G., Kuipers, Folkert, Kruit, Janine K., De Haan, Gerald, Kema, Ido P., Kuipers, Folkert; id_orcid, Kruit, Janine K.; id_orcid, Vellenga, Edo, Kema, Ido P.; id_orcid, Bloks, Vincent W.   +13 more
core   +1 more source

Foamy Cell Histiocytosis Is a Diagnostic Pitfall: A Case Report of Xanthomatosis Secondary to Sitosterolemia Mimicking Progressive Nodular Histiocytosis

, 2022
20.500.12530/87852We report a noteworthy case of a 10-year-old girl who presented with papular and nodular lesions on the skin that were clinically and histologically mistaken for progressive nodular histiocytosis.
María Penalba Torres, Carmen Palma Milla, Lorenzo, Lucía Garzón, Jose Luis Rodriguez-Peralto, Gil, Marco, Garrido, Maria C, Torres, María Penalba, Sara I. Palencia Pérez, Rodriguez-Peralto, Jose Luis, Lucía Garzón Lorenzo, Milla, Carmen Palma, Palencia Pérez, Sara I, Marco Gil, Maria C. Garrido   +13 more
core   +1 more source

Case Report: Next Generation Sequencing in Clinical Practice–A Real Tool for Ending the Protracted Diagnostic Odyssey

Frontiers in Cardiovascular Medicine, 2022
We reported a case of sitosterolemia, which is a rare genetic disease, characterized by increased plant sterol absorption and great heterogeneity of clinical manifestations.
Alena S. Limonova, Alexandra I. Ershova, Alexey N. Meshkov, Anna V. Kiseleva, Mikhail G. Divashuk, Mikhail G. Divashuk, Marina V. Kurkina, Oxana M. Drapkina   +7 more
doaj   +1 more source

A systematic review of ABCG8 mutation and sitosterolemia. [PDF]

Am J Blood Res
Sitosterolemia is a rare inherited condition caused by elevated levels of plant sterols in the plasma, characterized by mutations in ABCG5 and ABCG8 genes. A scarce occurrence in this condition are hematological abnormalities such as hemolytic anemia, stomatocytosis, and macrothrombocytopenia.
Parekh D, Bassir A, Desai D, Ashok Kumar P, Ghimire K.   +4 more
europepmc   +3 more sources

Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation

Frontiers in Cardiovascular Medicine, 2022
Sitosterolemia (OMIM ##210250), also known as phytosterolemia, is a rare autosomal recessive disorder caused by mutations in the ATP-binding cassette subfamily G member 5 (ABCG5) or member 8 (ABCG8) genes.
Ming-fang Shen, Ming-fang Shen, Ya-nan Hu, Wei-xiang Chen, Wei-xiang Chen, Li-sheng Liao, Li-sheng Liao, Min Wu, Qiu-yan Wu, Jian-hui Zhang, Yan-ping Zhang, Jie-wei Luo, Jie-wei Luo, Xin-fu Lin, Xin-fu Lin   +14 more
doaj   +1 more source