Successful genetic screening and creating awareness of familial hypercholesterolemia and other heritable dyslipidemias in the Netherlands

LC Zuurbier, JC Defesche, A Wiegman - Genes, 2021 - mdpi.com
The genetic screening program for familial hypercholesterolemia (FH) in the Netherlands,
which was embraced by the Dutch Ministry of Health from 1994 to 2014, has led to twenty …

The present and the future of genetic testing in familial hypercholesterolemia: opportunities and caveats

AJ Hooper, JR Burnett, DA Bell, GF Watts - Current atherosclerosis reports, 2018 - Springer
Abstract Purpose of Review We summarize recent advances in the understanding of genetic
testing in familial hypercholesterolemia (FH), the use of expanded FH next-generation …

Transcriptomic changes related to cellular processes with particular emphasis on cell activation in lysosomal storage diseases from the group of …

E Rintz, L Gaffke, M Podlacha, J Brokowska… - International Journal of …, 2020 - mdpi.com
Although mucopolysaccharidoses (MPS), inherited metabolic diseases from the group of
lysosomal storage diseases (LSD), are monogenic disorders, recent studies indicated that …

Anti-ovarian cancer actions and pharmacological targets of plumbagin

K Liang, X Pan, Y Chen, S Huang - Naunyn-Schmiedeberg's Archives of …, 2023 - Springer
Ovarian cancer is a gynecological malignancy characterized with increasing death rate in
the world. It is clinically reported that chemotherapy against ovarian cancer is still found with …

Familial Hypercholesterolemia: Real-World Data of 1236 Patients Attending a Czech Lipid Clinic. A Retrospective Analysis of Experience in More than 50 years. Part I …

V Todorovova, T Altschmiedova, M Vrablik… - Frontiers in …, 2022 - frontiersin.org
Introduction: The cause of familial hypercholesterolemia (FH) is defect in LDL receptor or
familial defect of apolipoprotein B-100 (FDB) or, rarely, defect in proprotein convertase …

Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes?

MM Page, DA Bell, GF Watts - Clinical Genetics, 2020 - Wiley Online Library
Familial hypercholesterolaemia (FH) is caused by pathogenic variants in LDLR, APOB or
PCSK9. Impaired low‐density lipoprotein (LDL) receptor function leads to decreased LDL …

Lipoprotein (a) in familial hypercholesterolaemia

PN Durrington, B Bashir, D Bhatnagar… - Current opinion in …, 2022 - journals.lww.com
Inheritance of familial hypercholesterolaemia undoubtedly increases the likelihood that
lipoprotein (a) will be raised. However, in familial hypercholesterolaemia when ASCVD …

Molecular cloning and characterization of the novel CYP2J2 in dromedary camels (Camelus dromedarius)

S Kamel, MA Ibrahim, EST Awad, HMA El-Hindi… - International journal of …, 2018 - Elsevier
Although its economic, cultural and biological importance, many genes haven't been
depicted, sequenced or analyzed to date for Camelus dromedarius. In the present paper, the …

Biotechnological production of statins: Metabolic aspects and genetic approaches

RNM Neto, E Barros Gomes… - Current …, 2019 - ingentaconnect.com
Statins are drugs used for people with abnormal lipid levels (hyperlipidemia) and are among
the best-selling medications in the United States. Thus, the aspects related to the production …

Percutaneous coronary intervention in familial hypercholesterolemia is understudied

L Ungar, D Sanders, B Becerra… - Frontiers in …, 2018 - frontiersin.org
Familial hypercholesterolemia (FH) is a common heritable condition in which mutations of
genes governing cholesterol metabolism result in elevated LDL levels and accelerated …