Results 21 to 30 of about 15,433 (199)

METTL14‐Induced M6A Methylation Increases G6pc Biosynthesis, Hepatic Glucose Production and Metabolic Disorders in Obesity

Advanced Science, EarlyView.
It is shown that obesity is associated with increases in hepatic METTL14 and m6A methylation of G6pc transcript. YTHDF1 and YTHDF3 bind to m6A‐marked G6pc mRNA to increase its synthesis. Hepatocyte‐specific deletion of Mettl14 decreases G6pc m6A methylation, G6pc biosynthesis, and G6pc‐mediated gluconeogenesis, alleviating glucose metabolic defects in ...
Qiantao Zheng, Xiao Zhong, Qianqian Kang, Zhiguo Zhang, Decheng Ren, Yong Liu, Liangyou Rui   +6 more
wiley   +1 more source

scCompass: An Integrated Multi‐Species scRNA‐seq Database for AI‐Ready

Advanced Science, EarlyView.
scCompass integrates and standardizes transcriptomic data from ≈105 million single cells across 13 species, enabling the identification of stable expression genes and organ‐specific expression genes in humans and mice. It provides scalable datasets for AI model training, pretrained model checkpoints, and user‐friendly platforms for data sharing ...
Pengfei Wang, Wenhao Liu, Jiajia Wang, Yana Liu, Pengjiang Li, Ping Xu, Wentao Cui, Ran Zhang, Qingqing Long, Zhilong Hu, Chen Fang, Jingxi Dong, Chunyang Zhang, Yan Chen, Chengrui Wang, Guole Liu, Hanyu Xie, Yiyang Zhang, Meng Xiao, Shubai Chen, Haiping Jiang, The X‐Compass Consortium, Yiqiang Chen, Ge Yang, Shihua Zhang, Zhen Meng, Xuezhi Wang, Guihai Feng, Xin Li, Yuanchun Zhou   +29 more
wiley   +1 more source

Mechanical Load‐Induced Upregulation of Talin2 through Non‐Canonical Deubiquitination of OTUB1 Drives Facet Joint Osteoarthritis Pathogenesis

Advanced Science, EarlyView.
Facet joint osteoarthritis (FJOA), prevalent in the elderly, involves Talin2 upregulation promoting ECM degradation while suppressing synthesis. Mechanical load stabilizes Talin2 via OTUB1‐mediated non‐canonical deubiquitination, driving CCL2 expression that recruits immune cells, exacerbating inflammatory joint degeneration.
Yizhen Huang, Heng Sun, Haojie Chen, Xiangpeng Wang, Junduo Zhao, Yang Jiao, Hongyi Zhou, Haoyu Cai, Jiafeng Dai, Xuan Huang, Weiyun Chen, Jianxiong Shen   +11 more
wiley   +1 more source

Genetic Regulation of Alternative Polyadenylation Provides Novel Insights into Molecular Mechanisms Underlying Non‐small Cell Lung Cancer

Advanced Science, EarlyView.
Compared with the non‐risk G allele of rs9606, the risk T allele of rs9606 decreases the binding affinity of NUDT21 for LYRM4, triggering 3'UTR shortening that stabilizes LYRM4 mRNA and elevates its expression. Increased LYRM4 expression promoted malignant phenotypes of non‐small cell lung cancer (NSCLC) cells through modulating ferroptosis, supporting
Meng Jin, Yongbiao Huang, Bin Li, Yuan Wang, Yan Li, Zhirui Chen, Zhe Tang, Chaofan Liu, Lei Zhang, Xianglin Yuan, Jianbo Tian, Bo Liu   +11 more
wiley   +1 more source

SUMOylation is a Translatable Target in Hypoxic MNPs Regulating Retinal Vasculopathy

Advanced Science, EarlyView.
During ischemic retinopathy/retinal vasculopathy, UBC9‐mediated SUMOylation in retinal macrophages enhances their pro‐angiogenic capacity via hypoxia‐induced SUMOylation of FUS at K327/K502. This modification suppresses FUS binding to the Vegfa mRNA 3’UTR, stabilizing transcripts and facilitating VEGFA production. Targeting UBC9 inhibition can serve as
Zheng Zhong, Guangyu Liang, Huimin Yu, Jiaqi Li, Ruohong Wang, Xiaohong Ma, Ziqing Zhou, Yin Zhao, Fei Sun, Xufang Sun   +9 more
wiley   +1 more source

PP2A Promotes the Symmetric Division of MUC1‐Dominant Cancer Stem‐Like Cells in Small Cell Lung Cancer

Advanced Science, EarlyView.
During the G2/M phase, mucin1 (MUC1) activates protein phosphatase 2A (PP2A), leading to reduced phosphorylation of protein kinase C ζ (PKCζ) and NUMB, which promotes symmetric division and expansion of cancer stem‐like cells (CSLCs), thereby driving tumorigenesis. Combined inhibition of the MUC1–PP2A axis using LB100/GO203 with etoposide restores PKCζ
Shengze Li, Xinran Dong, Kexing Gao, Yiyang Wang, Min Li, Huayun Deng, Shuangyu Ma, Yaping Lv, Wei Jin, Quanfu Li, Yuming Wang, Xiaodong Liao, Kangjing Bian, Aiwu Zhou, Chengping Hu, Lei Huang   +15 more
wiley   +1 more source

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina, Sonia Khirani, Lucie Griffon, Clément Poirault, Raffaella Nenna, Fabio Midulla, Brigitte Fauroux   +6 more
wiley   +1 more source

Growth Charts for Children With Beckwith–Wiedemann Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder caused by (epi)genetic alterations in chromosome 11p15. This study aimed to develop BWSp‐specific growth charts and explore genotype/phenotype correlations with respect to growth. Heights, weights, and head circumferences were retrospectively collected from 581 individuals with BWSp ...
Saskia M. Maas, Peter Lauffer, Guido Cocchi, Madison DeMarchis, Andrew M. George, Alessandro Mussa, Francesco Pellegrino, Alexander M. J. Spaans, Emma C. van den Brink, Jan M. Wit, Leonie A. Menke, Jennifer M. Kalish   +11 more
wiley   +1 more source

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source