Results 111 to 120 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. [PDF]

Clin Cosmet Investig Dermatol
Deng Y, Wang H, Tang D, Peng CE.
europepmc   +1 more source

β-Sitosterolemia and Xanthomatosis [PDF]

Journal of Clinical Investigation, 1974
Ashim K. Bhattacharyya, William E. Connor   +1 more
openaire   +1 more source

A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia. [PDF]

J Atheroscler Thromb
Okada T, Yamashita S, Tada H, Tsukamoto K, Togo M, Kawashiri MA, Nakamura K, Dobashi K, Ikewaki K, Yoshida H, Harada-Shiba M, Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Disease of the Ministry of Health, Labour and Welfare of Japan.   +12 more
europepmc   +1 more source

Molecular Insights for Precision Care in Cardiovascular Disease: Perspectives from the Special Issue. [PDF]

Int J Mol Sci
Terasaki M, Yamagishi SI.
europepmc   +1 more source

Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21

, 2014
The molecular mechanisms regulating the amount of dietary cholesterol retained in the body as well as the body’s ability to selectively exclude other dietary sterols are poorly understood.
Shailendra B. Patel, Mi-hye Lee, Hideki Hidaka, Mihael H. Polymeropoulos, Jeffrey S. Rubenstein, Gerald Salen, Michael J. Brownstein, Anton F. H. Stalenhoef, Scott M. Grundy, Peter O. Kwiterovich, Tatu A. Miettinen   +10 more
core  

Rare variants in cholesterol transporter genes in patients with lipid metabolism disorders. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Izyumchenko AD, Grunina MN, Dracheva KV, Chumakova OA, Tanayants KO, Legostaeva KV, Kulikov AN, Berkovich OA, Baranova EI, Pchelina SN, Miroshnikova VV.   +10 more
europepmc   +1 more source

Factors Affecting Circulating Phytosterol Levels: Toward an Integrated Understanding of Atherogenicity and Atheroprotection by Dietary and Circulating Phytosterols. [PDF]

Curr Atheroscler Rep
Nakano T, Takashima E, Yu L.
europepmc   +1 more source

Case Report: The First Report of a Family with Sitosterolemia in the Polish Population

Sitosterolemia is a rare autosomal recessive lipid disorder caused by mutations in the ABCG5 or ABCG8 genes, resulting in excessive intestinal absorption and impaired biliary excretion of plant sterols, which leads to their accumulation in plasma and ...
Waluś-Miarka, Małgorzata, Malone, Caitlin, Nogieć, Anna, Humphries, Steve E, Khalil, Youssef, Clayton, Peter T, Chyrchel, Bernadeta, Małecki, Maciej T, Fedak, Andrzej   +8 more
core  

ATP-binding Cassette Transporter Defects and Their Roles in Hepatic Diseases. [PDF]

J Clin Transl Hepatol
Zhao D, Wu GY.
europepmc   +1 more source

Sitosterolemia Due to a New Combination of <i>ABCG8</i> Variants Presenting as Hemolytic Anemia and Macrothrombocytopenia. [PDF]

JCEM Case Rep
Anum, Bavli NR, Ahmad Z.
europepmc   +1 more source