Results 81 to 90 of about 42,338,399 (265)

Genome-wide association and functional follow-up reveals new loci for kidney function [PDF]

open access: yes, 2012
Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new
Döring, Angela   +999 more
core   +1 more source

Metabolic Signatures for Liver Cancer Diagnosis and Mechanistic Insights: A Large‐Scale, Multicenter Study

open access: yesAdvanced Science, EarlyView.
A large‐scale multicenter serum metabolomics study (13 centers, n = 2,149) identified a 9‐metabolite + AFP diagnostic signature for liver cancer (AUC = 0.93). Among the signature, nicotinamide (NAM) was validated as an oncometabolite: NAM enhances NAD+ synthesis, activating SIRT1 to deacetylate and stabilize HIF1α, thereby driving glycolysis, MAPK ...
Yongjie Xu   +13 more
wiley   +1 more source

CausalCellInfer: Prioritizing Cell‐Type‐Specific Disease Associations From Genetically Predicted Transcriptomes in Biobank Cohorts

open access: yesAdvanced Science, EarlyView.
Bulk and genotype‐imputed transcriptomes obscure the cellular drivers of complex disease. CausalCellInfer resolves them by integrating invariant marker selection, deep learning deconvolution, and regularized matrix completion. Applied to ∼500 000 UK Biobank participants across 29 traits, it uncovers hallmark cell‐type proportion shifts, including ...
Liangying Yin   +6 more
wiley   +1 more source

Genome-wide association study of behavioural and psychiatric features in human prion disease. [PDF]

open access: yes, 2015
Prion diseases are rare neurodegenerative conditions causing highly variable clinical syndromes, which often include prominent neuropsychiatric symptoms.
Carswell, C   +9 more
core  

Targeting 160 candidate genes for blood pressure regulation with a genome-wide genotyping array [PDF]

open access: yes, 2009
The outcome of Genome-Wide Association Studies (GWAS) has challenged the field of blood pressure (BP) genetics as previous candidate genes have not been among the top loci in these scans.
Döring, Angela   +183 more
core   +1 more source

Structural Variants in the Human Genome Associated With Gut Microbiome and Blood Metabolic Traits With Potential Causal Links

open access: yesAdvanced Science, EarlyView.
Based on a multi‐omics cohort of 2002 individuals comprising high‐depth whole‐genome and metagenomic sequencing data, blood metabolites, and detailed questionnaires, we identified 138 859 high‐confidence SVs, uncovering 36 significant SV–microbiome associations and 48 SV–blood metabolite associations.
Qun Zhou   +13 more
wiley   +1 more source

Age‐Related Lamin B1 Deficiency Activates SLC7A11‐Dependent Disulfidptosis to Impair Osteogenesis via Intercepting Mitochondrial Fission

open access: yesAdvanced Science, EarlyView.
This study reveals that age‐related LMNB1 deficiency in mesenchymal stem cells epigenetically upregulates SLC7A11, triggering actin disulfidptosis and mitochondrial dysfunction. This cascade impairs bone formation in senile osteoporosis. Furthermore, researchers identified the FDA‐approved drug naldemedine as a targeted SLC7A11 inhibitor to reverse ...
Wenhui Yu   +12 more
wiley   +1 more source

Hepatic Lipid Stress Drives Metabolic Dysfunction‐Associated Steatohepatitis Progression through FTO O‐GlcNAcylation‐Induced m6A Demethylation of HRAS

open access: yesAdvanced Science, EarlyView.
Lipid stress drives O‐GlcNAcylation of the m6A demethylase FTO at Ser195, enhancing its stability and demethylase activity. This modification removes m6A from HRAS mRNA, preventing its degradation and activating PI3K/AKT signaling to promote hepatic steatosis and inflammation.
Jia‐Xin Yin   +9 more
wiley   +1 more source

Genome-wide heterogeneity between T2D strata.

open access: yes, 2022
Manhattan plot for heterogeneity p-values comparing T2D and non-T2D groups. Only one locus achieved genome-wide significance and the corresponding variants are colored in green.
Kaavya Paruchuri (13994019)   +6 more
core   +1 more source

Maternal Hyperglycemia Disrupts Cerebral Cortex Development Through the Foxp1‐Dll1‐Notch Axis

open access: yesAdvanced Science, EarlyView.
Maternal hyperglycemia disrupts offspring cortical development through a Foxp1–Dll1–Notch signaling axis. In a PGDM mouse model, intrauterine hyperglycemia decreases cortical thickness and perturbs neuronal layering by downregulating Foxp1, which transcriptionally regulates the Notch ligand Dll1.
Longkai He   +12 more
wiley   +1 more source

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