Results 21 to 30 of about 1,240 (187)

Sitosterolemia—10 years observation in two sisters [PDF]

JIMD Reports, 2019
Familial hypercholesterolemia due to heterozygous low‐density lipoprotein‐receptor mutations is a common inborn errors of metabolism. Secondary hypercholesterolemia due to a defect in phytosterol metabolism is far less common and may escape diagnosis ...
Lara Veit, Gabriella Allegri Machado, Céline Bürer, Oliver Speer, Johannes Häberle   +4 more
doaj   +2 more sources

A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans

BMC Medical Genetics, 2006
Background Sitosterolemia is an autosomal recessive disorder that maps to the sitosterolemia locus, STSL, on human chromosome 2p21. Two genes, ABCG5 and ABCG8, comprise the STSL and mutations in either cause sitosterolemia. ABCG5 and ABCG8 are thought to
Hazard Starr E, Ahn Gwang-Sook, Pandit Bhaswati, Gordon Derek, Patel Shailendra B   +4 more
doaj   +2 more sources

Novel <i>ABCG5</i> and <i>ABCG8</i> Variants in Sitosterolemia: Insights Into Haemolysis, Calcium Dysregulation and Therapeutic Challenges. [PDF]

Hum Mutat
Sitosterolemia is a rare autosomal recessive lipid metabolic disorder caused by mutations in ABCG5 or ABCG8, leading to pathological accumulation of dietary plant sterols. The condition is clinically heterogeneous, presenting with xanthomas, premature atherosclerosis and haematological abnormalities such as stomatocytosis, haemolytic anaemia and ...
Warang P, Dongerdiye R, Dehadrai P, Kamble P, Samanpalliwar N, Madkaikar M, Shanmukhaiah C, Kedar PS.   +7 more
europepmc   +2 more sources

Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia [PDF]

JIMD Reports, 2020
Sitosterolemia is an extremely rare autosomal recessive disease caused by mutations in either ABCG5 or ABCG8, which encode for a sterol efflux transporter (sterolin) that pumps sterols out into the intestinal lumen or into bile. This leads to progressive
Sharmila Kiss, Joy Yaplito Lee, James Pitt, Duncan MacGregor, Jane Wallace, Melanie Marty, Natasha J. Brown   +6 more
doaj   +2 more sources

Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice. [PDF]

J Pers Med, 2023
Here, we report the pediatric cases of sitosterolemia, a rare autosomal-recessive genetic disorder, characterized by high concentrations of plant sterols in blood and heterogeneity manifestations. All three patients (two girls aged 2 and 6 years old, and
Miroshnikova VV, Vasiluev PA, Linkova SV, Soloviov VM, Ivanova ON, Tolmacheva ER, Udalova VY, Baranova PV, Aleksandrova DY, Strokova TV, Miklashevich IM, Izumchenko AD, Dracheva KV, Grunina MN, Smirnova NN, Kuchina AS, Zakharova EY, Pchelina SN.   +17 more
europepmc   +2 more sources

Sitosterolemia with Compound Heterozygous Variants in the ABCG5 Gene: A Rare Cause of Non-Immune Hemolysis and Macrothrombocytopenia [PDF]

Turkish Journal of Hematology
Başak Bostankolu Değirmenci, Hamza Polat   +1 more
doaj   +2 more sources

Sitosterolemia-An Underdiagnosed and Heterogeneous Lipid Disorder. A Case Series From a Tertiary Care Centre in Australia. [PDF]

J Paediatr Child Health
ABSTRACT Aims Sitosterolemia, is a disorder of increased plant sterol levels leading to a variable presentation and haematological manifestations. Although considered rare, the prevalence is likely underestimated due to the variable phenotype and challenges in diagnosis. The delayed diagnosis may lead to cardiovascular complications.
Gamage D, Chisholm K, Kilo T, Ooi SE, Srinivasan S.   +4 more
europepmc   +2 more sources

The Concise Guide to PHARMACOLOGY 2023/24: Transporters

British Journal of Pharmacology, Volume 180, Issue S2, Page S374-S469, October 2023., 2023
The Concise Guide to PHARMACOLOGY 2023/24 is the sixth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of approximately 1800 drug targets, and over 6000 interactions with about 3900 ligands. There is an emphasis on selective pharmacology (where available), plus links
Stephen P. H. Alexander, Doriano Fabbro, Eamonn Kelly, Alistair A. Mathie, John A. Peters, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Jamie A. Davies, Laura Amarosi, Catriona M. H. Anderson, Philip M. Beart, Stefan Broer, Paul A. Dawson, Gergely Gyimesi, Bruno Hagenbuch, James R. Hammond, Jules C. Hancox, Michal Hershfinkel, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Edmund R. S. Kunji, Gavin Stewart, Sotiria Tavoulari, David T. Thwaites, Tiziano Verri   +27 more
wiley   +1 more source

Analysis of various ATP‐binding cassette transporters revealed quantification of ABCB4 as a potential diagnostic tool in primary sclerosing cholangitis (PSC)

Histopathology, Volume 83, Issue 4, Page 559-568, October 2023., 2023
Aims ATP‐binding cassette transporters are important proteins in regulating bile constituent transport between hepatocytes and the bile canalicular system. Dysfunctional transporters lead to accumulation of toxic bile components within hepatocytes or the biliary system, known as cholestasis, resulting in liver damage.
Cornelia Thoeni, Catia T Perciani, Diana Nakib, Damra Camat, Ian D McGilvray, Sonya A MacParland, Sandra Fischer   +6 more
wiley   +1 more source

Plant sterol hyperabsorption caused by uncontrolled diabetes in a patient with a heterozygous ABCG5 variant

Journal of Diabetes Investigation, Volume 13, Issue 11, Page 1934-1938, November 2022., 2022
Plant sterol intake is widely recommended in patients with cardiovascular risk factors based on the inhibitory effect on intestinal cholesterol absorption, except for rare hyperabsorbers with homozygous ABCG5/8 mutations. We report a case of new‐onset type 1 diabetes accompanied by hypercholesterolemia and phytosterolemia, which were improved by ...
Masashi Hasebe, Yorihiro Iwasaki, Yamato Keidai, Kanako Iwasaki, Sachiko Honjo, Akihiro Hamasaki   +5 more
wiley   +1 more source