Results 281 to 290 of about 780,626 (347)

Reference‐Guided Chromosome‐by‐Chromosome de novo Assembly at Scale Using Low‐Coverage High‐Fidelity Long‐Reads with HiFiCCL

open access: yesAdvanced Science, EarlyView.
HiFiCCL, as the first assembly framework specifically designed for low‐coverage high‐fidelity reads, improves the assembly quality of existing assemblers and also enhances downstream applications such as large structural variant (SV) detection (>10 000 bp), synteny analysis, pangenome graph construction, and graph‐based individual‐specific germline SVs
Zhongjun Jiang   +9 more
wiley   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

open access: yesAdvanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li   +22 more
wiley   +1 more source

The Pivotal Role of GR‐CAR Pathway in Fetal Programming of Hepatic Cytochrome P450 3A Alteration in Adulthood

open access: yesAdvanced Science, EarlyView.
Prenatal dexamethasone exposure (PDE) persistently upregulates hepatic CYP3A1/CYP2B1 in offspring via glucocorticoid receptor (GR) activation. In vivo and in vitro studies show GR promotes P300/CBP binding to the constitutive androstane receptor (CAR) promoter, sustaining histone acetylation (H3K9/K27ac) and enhancing CYP expression. The GR–CAR pathway
Xiaoxiang Sun   +9 more
wiley   +1 more source

A Deep Representation Learning Method for Quantitative Immune Defense Function Evaluation and Its Clinical Applications

open access: yesAdvanced Science, EarlyView.
ImmuDef, a novel algorithm to quantitatively evaluate the anti‐infection immune defense function of an individual based on RNA‐seq data via a variational autoencoder (VAE) model. It is validated on 3200+ samples across four immune states with high accuracy. It can serve as a metric for disease severity and prognosis across pathogenic cohorts.
Zhen‐Lin Tan   +7 more
wiley   +1 more source

Active surveillance of an endometriosis-related, hormone-responsive pelvic adenosarcoma during pregnancy: A case report. [PDF]

open access: yesGynecol Oncol Rep
Zaidan A   +6 more
europepmc   +1 more source

Endothelial Cell‐Specific Molecule‐1 (ESM1): An Endogenous Anticoagulant and Protective Factor in Venous Thrombosis

open access: yesAdvanced Science, EarlyView.
This study identifies ESM1 as an endogenous anticoagulant that modulates venous thrombosis. It shows that ESM1 deficiency triggers vascular occlusion in zebrafish and mice, whereas its restoration or overexpression prolongs clot‐formation time. Mechanistic analyses reveal that ESM1 activates HCII through its dermatan‐sulfate chain, uncovering a ...
Changsheng Chen   +10 more
wiley   +1 more source

TP53BP2 Promotes Placental Autophagy and Preeclampsia via G9a and DNMT1 Cooperatively Modulating E2F1

open access: yesAdvanced Science, EarlyView.
G9a, and DNA Methyltransferase1 (DNMT1) cooperatively modulates E2F1 on the promoter of tumor suppressor p53‐binding protein 2 (TP53BP2) increased autophagy in preeclampsia. TP53BP2 promotes autophagy in trophoblasts through DNA methylation and H3K9me2‐mediated transcriptional regulation.
Nan Jiang   +12 more
wiley   +1 more source

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