Current understanding on the genetic basis of key metabolic disorders: a review
Simple Summary Metabolic disorders (MD) are a challenge to healthcare systems; the
emergence of the modern socio-economic system has led to a profound change in lifestyles …
emergence of the modern socio-economic system has led to a profound change in lifestyles …
The role of lipase maturation factor 1 in hypertriglyceridaemia and atherosclerosis: An update
SA Dabravolski, AV Churov… - SAGE Open …, 2024 - journals.sagepub.com
Lipase maturation factor 1 is an endoplasmic reticulum-resident transmembrane protein,
which acts as a critical chaperone necessary for the folding, dimerisation, and secretion of …
which acts as a critical chaperone necessary for the folding, dimerisation, and secretion of …
Pancreatitis as a Main Consequence of APOC2‐Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants
B Rabbani, MA Moghadam, S Esmaeili… - … Journal of Genomics, 2024 - Wiley Online Library
APOC2-related hypertriglyceridemia occurs due to biallelic variants of this gene. Here,
genotype‐phenotype architecture of all pathogenic APOC2 variants is investigated among …
genotype‐phenotype architecture of all pathogenic APOC2 variants is investigated among …
[HTML][HTML] Phenotype in Individuals with Heterozygous Rare Variants in LIPC Encoding Hepatic Lipase
EO Jacob, J Wang, AD McIntyre… - International Journal of …, 2024 - mdpi.com
Hepatic lipase deficiency is a rare genetic condition caused by biallelic loss-of-function
variants in the LIPC gene encoding hepatic lipase. These variants reduce or abolish the …
variants in the LIPC gene encoding hepatic lipase. These variants reduce or abolish the …