Glycosylation: mechanisms, biological functions and clinical implications
M He, X Zhou, X Wang - Signal Transduction and Targeted Therapy, 2024 - nature.com
Protein post-translational modification (PTM) is a covalent process that occurs in proteins
during or after translation through the addition or removal of one or more functional groups …
during or after translation through the addition or removal of one or more functional groups …
Genetic architecture: the shape of the genetic contribution to human traits and disease
Genetic architecture describes the characteristics of genetic variation that are responsible for
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …
Engineered human hepatocyte organoids enable CRISPR-based target discovery and drug screening for steatosis
D Hendriks, JF Brouwers, K Hamer, MH Geurts… - Nature …, 2023 - nature.com
The lack of registered drugs for nonalcoholic fatty liver disease (NAFLD) is partly due to the
paucity of human-relevant models for target discovery and compound screening. Here we …
paucity of human-relevant models for target discovery and compound screening. Here we …
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
Genetic variation can predispose to disease both through (i) monogenic risk variants that
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
Large-scale whole-genome sequencing studies have enabled the analysis of rare variants
(RVs) associated with complex phenotypes. Commonly used RV association tests have …
(RVs) associated with complex phenotypes. Commonly used RV association tests have …
Using an atlas of gene regulation across 44 human tissues to inform complex disease-and trait-associated variation
We apply integrative approaches to expression quantitative loci (eQTLs) from 44 tissues
from the Genotype-Tissue Expression project and genome-wide association study data …
from the Genotype-Tissue Expression project and genome-wide association study data …
The support of human genetic evidence for approved drug indications
Over a quarter of drugs that enter clinical development fail because they are ineffective.
Growing insight into genes that influence human disease may affect how drug targets and …
Growing insight into genes that influence human disease may affect how drug targets and …
Dissecting diagnostic heterogeneity in depression by integrating neuroimaging and genetics
AM Buch, C Liston - Neuropsychopharmacology, 2021 - nature.com
Depression is a heterogeneous and etiologically complex psychiatric syndrome, not a
unitary disease entity, encompassing a broad spectrum of psychopathology arising from …
unitary disease entity, encompassing a broad spectrum of psychopathology arising from …
Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses
Very few genetic variants have been associated with depression and neuroticism, likely
because of limitations on sample size in previous studies. Subjective well-being, a …
because of limitations on sample size in previous studies. Subjective well-being, a …
Targeting protein modifications in metabolic diseases: molecular mechanisms and targeted therapies
The ever-increasing prevalence of noncommunicable diseases (NCDs) represents a major
public health burden worldwide. The most common form of NCD is metabolic diseases …
public health burden worldwide. The most common form of NCD is metabolic diseases …