Emerging role of genomic analysis in clinical evaluation of lean individuals with NAFLD
Results We found that ALCDs are critical regions of the human genome that are located on
all human chromosomes, preferentially in intronic regions of the oncogenes and other …
all human chromosomes, preferentially in intronic regions of the oncogenes and other …
PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis
Q Guo, X Feng, Y Zhou - Frontiers in Genetics, 2020 - frontiersin.org
Autosomal dominant familial hypercholesterolemia (FH) affects approximately 1/250,
individuals and potentially leads to elevated blood cholesterol and a significantly increased …
individuals and potentially leads to elevated blood cholesterol and a significantly increased …
Machine learning enables new insights into genetic contributions to liver fat accumulation
Excess liver fat, called hepatic steatosis, is a leading risk factor for end-stage liver disease
and cardiometabolic diseases but often remains undiagnosed in clinical practice because of …
and cardiometabolic diseases but often remains undiagnosed in clinical practice because of …
Clinical utility of genomic analysis in adults with idiopathic liver disease
A Hakim, X Zhang, A DeLisle, EA Oral, D Dykas… - Journal of …, 2019 - Elsevier
Background & Aims Adult patients suffering from liver disease of unknown cause represent
an understudied and underserved population. The use of whole-exome sequencing (WES) …
an understudied and underserved population. The use of whole-exome sequencing (WES) …
Review of the long-term safety of lomitapide: a microsomal triglycerides transfer protein inhibitor for treating homozygous familial hypercholesterolemia
E Khoury, D Brisson, N Roy, G Tremblay… - Expert Opinion on …, 2019 - Taylor & Francis
ABSTRACT Introduction: Homozygous familial hypercholesterolemia (HoFH) is a rare and
life-threatening lipid disorder characterized by extremely elevated low-density lipoprotein …
life-threatening lipid disorder characterized by extremely elevated low-density lipoprotein …
Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels
Background Screening of variants, related to lipid metabolism in patients with extreme
cholesterol levels, is a tool used to identify targets affecting cardiovascular outcomes. The …
cholesterol levels, is a tool used to identify targets affecting cardiovascular outcomes. The …
Update on the diagnosis, treatment and management of rare genetic lipid disorders
Rare genetic lipid disorders affect the levels of cholesterol and/or triglyceride in the
circulation and, if untreated, can often lead to severe multisystem complications. The field of …
circulation and, if untreated, can often lead to severe multisystem complications. The field of …
Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations
Non-communicable diseases, including cardiovascular diseases (CVDs), are increasing in
African populations. High serum low density lipoprotein cholesterol (LDL-cholesterol) levels …
African populations. High serum low density lipoprotein cholesterol (LDL-cholesterol) levels …
Prevalence of hypobetalipoproteinemia and related psychiatric characteristics in a psychiatric population: results from the retrospective HYPOPSY Study
B Cariou, G Challet-Bouju, C Bernard, M Marrec… - Lipids in Health and …, 2018 - Springer
Background Hypobetalipoproteinemia (HBL) is defined by plasma concentrations of LDL-
cholesterol (LDL-C) lower than the fifth percentile for age and sex. Several psychiatric …
cholesterol (LDL-C) lower than the fifth percentile for age and sex. Several psychiatric …
Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families
Familial hypobetalipoproteinemia (FHBL) is a codominant genetic disorder characterized by
reduced plasma levels of low-density lipoprotein cholesterol and apolipoprotein B. To our …
reduced plasma levels of low-density lipoprotein cholesterol and apolipoprotein B. To our …