Results 121 to 130 of about 4,675,098 (246)

Gapless Complete Genome and Multi‐Omics Illuminate Immune Adaptation and Host‐Virus Interactions in a Coronavirus Reservoir

open access: yesAdvanced Science, EarlyView.
We present a complete T2T genome assembly for a key bat reservoir. Integrating population genomics, comparative genomics, transcriptomics, single‐cell omics, and functional assays, we resolve previously inaccessible genomic regions and identify evolutionary signatures associated with immune adaptation.
Yuting Wang   +15 more
wiley   +1 more source

Histone Lactylation Drives WNK1 Expression to Promote Esophageal Squamous Cell Carcinoma Progression Through Histone H3 Ser10 Phosphorylation

open access: yesAdvanced Science, EarlyView.
In brief. Yan et al. demonstrated that the excess lactate produced by the enhanced glycolysis pathway in esophageal cancer can lactylate H3K23, H3K23la can be enriched in the WNK1 promoter region to promote WNK1 expression, thereby increasing the phosphorylation of the p‐H3 Ser10 site, and p‐H3S10 can be enriched in the AKT1 promoter region to promote ...
Mingyang Yan   +12 more
wiley   +1 more source

Integrated Multiomic Analysis Reveals an EBV‐Associated MIF–SPP1+ Macrophage Axis Linking Tumor Stemness and Immune Dysfunction in Nasopharyngeal Carcinoma

open access: yesAdvanced Science, EarlyView.
This study maps how Epstein–Barr virus reshapes the cellular ecosystem of nasopharyngeal carcinoma. It identifies SPP1+ macrophages as partners of stemness‐associated tumor cells and dysfunctional T cells, links tumor‐derived MIF to macrophage recruitment and programming, and shows that macrophage‐derived SPP1 promotes tumorsphere formation and impairs
Guo‐Ying Liu   +15 more
wiley   +1 more source

The role of satellite DNAs in repeatome organization and sex chromosome evolution in the owl monkey Aotus infulatus and congeneric species

open access: yesBiology Direct
Background Multiple sex chromosome systems provide exceptional models for investigating the genomic mechanisms underlying sex chromosome evolution. In Neotropical primates, owl monkeys (Aotus) are notable for their extensive karyotypic diversity and ...
Gustavo Akira Toma   +5 more
doaj   +1 more source

A UBE3A‐UTX Proteostasis‐Epigenetic Axis Governs Hypothalamic Energy Homeostasis

open access: yesAdvanced Science, EarlyView.
Ubiquitin protein ligase E3A (UBE3A) regulates hypothalamic energy homeostasis and promotes degradation of the histone demethylase UTX (KDM6A). Neuronal UBE3A loss increases susceptibility to diet‐induced obesity and is accompanied by UTX accumulation, reduced histone H3 lysine 27 trimethylation, and altered endoplasmic reticulum stress‐responsive gene
Junekyoung Lee   +7 more
wiley   +1 more source

Cardiac Endothelial Enhancer RNA Tek‐e1 Restores Microvascular Homeostasis After Myocardial Infarction

open access: yesAdvanced Science, EarlyView.
Hypoxia‐induced KDM5A downregulation establishes a distinct endothelial repair programme, increasing H3K4me3 at the Tek promoter and intronic enhancer, enabling ISL1 to coordinately activate Tek transcription and induce enhancer‐RNA Tek‐e1. This cis‐regulatory RNA is essential for additional Tek/TIE2 induction through R‐loop formation and reinforced ...
Yang Lyu   +19 more
wiley   +1 more source

Distinct Consequences of BCOR and BCORL1 Mutations in Myeloid Neoplasms and Bone Marrow Failure

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT BCOR and BCORL1 (BCOR/L1) mutations are observed in both myeloid neoplasms (MN) and bone marrow failure syndromes (BMF), but their clinical significance may differ. We analyzed 11 340 patients and identified 418 BCOR/L1‐mutated patients, focusing on differences between MN and BMF. Compared with MN, BMF was associated with younger age, a higher
Atsushi Marumo   +23 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright   +10 more
wiley   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes   +5 more
wiley   +1 more source

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas   +9 more
wiley   +1 more source

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