Results 151 to 160 of about 46,677 (295)

Dysregulated protocadherin-pathway activity as an intrinsic defect in induced pluripotent stem cell-derived cortical interneurons from subjects with schizophrenia. [PDF]

open access: yes, 2019
We generated cortical interneurons (cINs) from induced pluripotent stem cells derived from 14 healthy controls and 14 subjects with schizophrenia. Both healthy control cINs and schizophrenia cINs were authentic, fired spontaneously, received functional ...
Apud, Jose   +36 more
core   +1 more source

Identifying Thyroid Carcinoma-Related Genes by Integrating GWAS and eQTL Data [PDF]

open access: gold, 2021
Fei Shen   +9 more
openalex   +1 more source

M2 Macrophages are Major Mediators of Germline Risk of Endometriosis and Explain Pleiotropy With Comorbid Traits

open access: yesAdvanced Science, Volume 12, Issue 41, November 6, 2025.
Genes associated with endometriosis risk are highly expressed in M2 macrophages, particularly ligands IL1A and IL1B. Endometrial‐type epithelium and stroma are likely recipients of these ligands. While IL1B treatment disturbs epithelial organization, blockage of the signaling results in a dose‐dependent decrease in spontanesous and evoked pain, reduces
Soledad Ochoa   +15 more
wiley   +1 more source

Massively parallel reporter assays combined with cell-type specific eQTL informed multiple melanoma loci and identified a pleiotropic function of HIV-1 restriction gene,MX2, in melanoma promotion [PDF]

open access: green, 2019
Jiyeon Choi   +23 more
openalex   +1 more source

Trans-eQTLs of the CYP3A4 and CYP3A5 associated with tacrolimus trough blood concentration in Chinese renal transplant patients

open access: gold, 2021
Huijie Lu   +14 more
openalex   +1 more source

Transcriptome‐Wide Association Uncovers LncRNAs Controlling Seed Weight in Soybean

open access: yesAdvanced Science, Volume 12, Issue 41, November 6, 2025.
This study employs transcriptome‐wide association studies (TWAS) to identify 201 long non‐coding RNAs (lncRNAs) associated with seed weight. Expression quantitative trait locus (eQTL) analysis reveals dynamic and static regulatory variants controlling lncRNA expression across development.
Xiang Wang   +8 more
wiley   +1 more source

SCRIPT: Predicting Single‐Cell Long‐Range Cis‐Regulation Based on Pretrained Graph Attention Networks

open access: yesAdvanced Science, Volume 12, Issue 41, November 6, 2025.
SCRIPT is a novel method inferring single‐cell cis‐regulatory relationships (CRRs) from transcriptomic and chromatin accessibility data. SCRIPT incorporates two key innovations: graph causal attention networks supported by empirical CRR evidence, and representation learning enhanced through pretraining on atlas‐scale single‐cell data.
Yu Zhang   +13 more
wiley   +1 more source

Allele‐Specific Regulation of PAXIP1‐AS1 by SMC3/CEBPB at rs112651172 in Psychiatric Disorders Drives Synaptic and Behavioral Dysfunctions in Mice

open access: yesAdvanced Science, Volume 12, Issue 44, November 27, 2025.
This study identifies a functional noncoding variant, rs112651172 (C/G), that drives allele‐specific expression of PAXIP1‐AS1 in monozygotic twin pairs discordant for schizophrenia and bipolar disorder. The risk G allele enhances CEBPB binding, leading to lncRNA upregulation, CNTNAP3 derepression, and synaptic and behavioral deficits in mice.
Chaoying Ni   +14 more
wiley   +1 more source

PICALO: principal interaction component analysis for the identification of discrete technical, cell-type, and environmental factors that mediate eQTLs

open access: yesGenome Biology
Expression quantitative trait loci (eQTL) offer insights into the regulatory mechanisms of trait-associated variants, but their effects often rely on contexts that are unknown or unmeasured.
Martijn Vochteloo   +10 more
doaj   +1 more source

Marker Metabolite‐Based Multi‐Omics Analysis Identifies New Loci Controlling Thousand Seed Weight in Brassica Napus

open access: yesAdvanced Science, Volume 12, Issue 42, November 13, 2025.
Marker metabolite‐based multi‐omics (genome, transcriptome, and metabolome) analysis is conducted firstly to unravel the genetic basis of thousand seed weight (TSW) in Brassica napus. The released metabolite‐QTL‐gene network represents a valuable genetic resource, and the newly validated BnaTGA6 is a promising target for the improvement of TSW in ...
Long Li   +10 more
wiley   +1 more source

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