[HTML][HTML] Lipid droplet biogenesis and functions in health and disease
Ubiquitous yet unique, lipid droplets are intracellular organelles that are increasingly being
recognized for their versatility beyond energy storage. Advances uncovering the intricacies …
recognized for their versatility beyond energy storage. Advances uncovering the intricacies …
[HTML][HTML] Using genetic association data to guide drug discovery and development: review of methods and applications
Evidence on the validity of drug targets from randomized trials is reliable but typically
expensive and slow to obtain. In contrast, evidence from conventional observational …
expensive and slow to obtain. In contrast, evidence from conventional observational …
AASLD Practice Guidance on the clinical assessment and management of nonalcoholic fatty liver disease
ME Rinella, BA Neuschwander-Tetri, MS Siddiqui… - Hepatology, 2023 - journals.lww.com
Abbreviations: AASLD, American Association for the Study of Liver Diseases; AI, artificial
intelligence; ALT, alanine aminotransferase; AST, aspartate aminotransferase; AUROC …
intelligence; ALT, alanine aminotransferase; AST, aspartate aminotransferase; AUROC …
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis
In this study, we leveraged the combined evidence of rare coding variants and common
alleles to identify therapeutic targets for osteoporosis. We undertook a large-scale …
alleles to identify therapeutic targets for osteoporosis. We undertook a large-scale …
Found in translation—Fibrosis in metabolic dysfunction–associated steatohepatitis (MASH)
S Wang, SL Friedman - Science translational medicine, 2023 - science.org
Metabolic dysfunction–associated steatohepatitis (MASH) is a severe form of liver disease
that poses a global health threat because of its potential to progress to advanced fibrosis …
that poses a global health threat because of its potential to progress to advanced fibrosis …
[HTML][HTML] Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes
Body fat distribution is a major, heritable risk factor for cardiometabolic disease, independent
of overall adiposity. Using exome-sequencing in 618,375 individuals (including 160,058 non …
of overall adiposity. Using exome-sequencing in 618,375 individuals (including 160,058 non …
[HTML][HTML] Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis
J Ghouse, G Sveinbjörnsson, M Vujkovic, AS Seidelin… - Nature Genetics, 2024 - nature.com
We report a multi-ancestry genome-wide association study on liver cirrhosis and its
associated endophenotypes, alanine aminotransferase (ALT) and γ-glutamyl transferase …
associated endophenotypes, alanine aminotransferase (ALT) and γ-glutamyl transferase …
Therapeutic opportunities for the treatment of NASH with genetically validated targets
D Lindén, S Romeo - Journal of Hepatology, 2023 - Elsevier
The identification of genetic variants associated with fatty liver disease (FLD) from genome-
wide association studies started in 2008 when single nucleotide polymorphisms in PNPLA3 …
wide association studies started in 2008 when single nucleotide polymorphisms in PNPLA3 …
A phase I/II study of ARO-HSD, an RNA interference therapeutic, for the treatment of non-alcoholic steatohepatitis
Background & Aims Loss-of-function HSD17β13 mutations protect against the development
of chronic liver disease. HSD17β13 inhibition represents a potential approach to treat liver …
of chronic liver disease. HSD17β13 inhibition represents a potential approach to treat liver …
[HTML][HTML] Rare coding variants in CHRNB2 reduce the likelihood of smoking
VM Rajagopal, K Watanabe, J Mbatchou, A Ayer… - Nature Genetics, 2023 - nature.com
Human genetic studies of smoking behavior have been thus far largely limited to common
variants. Studying rare coding variants has the potential to identify drug targets. We …
variants. Studying rare coding variants has the potential to identify drug targets. We …