Results 71 to 80 of about 274,651 (250)

Association of single nucleotide polymorphisms rs7164665, rs71461059, rs74765750, rs6762529 with sudden cardiac death

Российский кардиологический журнал, 2019
Aim. To confirm the association between sudden cardiac death (SCD) and single nucleotide polymorphisms rs7164665, rs71461059, rs74765750, rs6762529, identified in own genome-wide associative study as new molecular genetic markers of SCD.Material and ...
A. A. Ivanova, V. N. Maksimov, S. K. Malutina, V. P. Novoselov, M. I. Voevoda   +4 more
doaj   +1 more source

Transposable Element Dynamics Drive the Genomic Evolution and Phenotypic Diversification of Allotetraploid Common Carp

Advanced Science, EarlyView.
By integrating 516 whole‐genome resequencing datasets and 236 transcriptomes of allotetraploid common carp, this study establishes the first population‐scale atlas of transposable element (TE) variation in teleost species. TE bursts, relaxed purifying selection, and lineage‐specific loss of ancient insertions shape genome evolution and phenotypic ...
Shuimu Hu, Zhou Jiang, Lin Chen, Gowena Ling Yi Goh, Weijing Li, Qian He, Xintong Chen, Rui Li, Yuxuan Liu, Ning Li, Tao Zhou, Peng Xu   +11 more
wiley   +1 more source

Dual Repression by IPA1 Fine‐Tunes OsbZIP79‐Mediated Salt Tolerance in Rice

Advanced Science, EarlyView.
Dual repression by IPA1 fine‐tunes OsbZIP79‐mediated salt tolerance in rice: direct transcriptional inhibition under normal conditions and salt‐induced degradation under stress. This dual mechanism activates OsbZIP79 to regulate Na+/K+ homeostasis and redox balance via downstream genes, enabling optimal salt stress response.
Hui Wang, Bo Liu, Can Hu, Chenfan Zheng, Yuting Wei, Xier Xu, Wei Yang, Yu Fang, Guangle Shen, Pedro García‐Caparros, Conghe Zhang, Qingyao Shu, Meng Jiang   +12 more
wiley   +1 more source

WFS1 Deficiency Impairs PIAS4‐Associated SUMOylation and Increases Ubiquitin‐Mediated Spermatogenesis‐Related Protein Degradation Leading to Testicular Male Infertility

Advanced Science, EarlyView.
The findings establish a critical role for WFS1 in human male fertility. Mechanistically, WFS1 interacts with PIAS4 to promote the SUMOylation of key spermatogenesis‐associated proteins, which in turn competitively inhibits their K48‐linked ubiquitin‐mediated degradation during spermatogenesis.
Yunchuan Tian, Guicheng Zhao, Xiang Wang, Xinyao Tang, Gan Shen, Tiechao Ruan, Chuan Jiang, Shikun Zhao, Jincheng Zhang, Xinyue Cui, Liangchai Zhuo, Jun Ma, Yihong Yang, Tingting Lin, Ying Shen   +14 more
wiley   +1 more source

Structural Control of Stromal‐Immune Coupling by COL24A1 Underlies Pregnancy Maintenance

Advanced Science, EarlyView.
COL24A1 emerges as a collagen‐associated regulator of maternal‐fetal interface homeostasis. Its deficiency promotes a maladaptive TIMP1‐high stromal state, impaired ECM turnover, collagen accumulation, and stromal–immune dysregulation, contributing to pregnancy loss.
Teng Wu, Lingling Xie, Wenyi Liu, Hanjie Mo, Chengshu Xie, Jing Tang, Zhaorui Wang, Peixuan Lan, Jianping Zhang, Jie Gao, Qionglan Tang, Chunwei Cao, Hui Chen   +12 more
wiley   +1 more source

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

Advanced 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, Yujia Shi, Ruoyu Zhang, Yong Xiang, Jinghong Qiu, Pak‐Chung Sham, Hon‐Cheong So   +6 more
wiley   +1 more source

Single Nucleotide Polymorphism

Citation: 'single nucleotide polymorphism' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.09727 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms ...
openaire   +2 more sources

A Living Multi‐Omics PDX Biobank of High‐Risk Sarcomas Reveals ecDNA‐Driven Oncogene Amplification in Osteosarcoma and Enables Preclinical Precision Oncology

Advanced Science, EarlyView.
A living multi‐omics sarcoma PDX biobank is enriched for high‐risk disease and preserves key patient tumor features at histopathological and molecular levels. Integrated profiling reveals ecDNA‐driven oncogene amplification in osteosarcoma and preferential retention of ecDNA during PDX evolution.
Weisong Zhao, Zhiwei Cheng, Kai Tian, Mengxiong Sun, Zhuoying Wang, Ming Jiao, Jens Luebeck, Kaiyuan Zhu, Xiao Zhang, Dongqing Zuo, Hongsheng Wang, Chongren Wang, Jiakang Shen, Xiaojun Ma, Gangyang Wang, Zongyi Wang, Jing Han, Kaiyuan Liu, Haoran Mu, Weiqi Ma, Yongyong Ren, Shibing Guo, Huangxin Tu, Lingfeng Yu, Yining Tao, Yu Lv, Hui Lu, Owen S. Chapman, Rishaan Kenkre, Lukas Chavez, Zhengdong Cai, Yuqin Yang, Wei Sun, Yafei Jiang, Yingqi Hua   +34 more
wiley   +1 more source

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

Advanced 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, Keqing Wang, Junhong Chen, Haoyu Wang, Xinjiang Tan, Xuanlin Huang, Zhiyin Lin, Xun Xu, Xin Jin, Shaoqiao Zhang, Liang Xiao, Yuanqiang Zou, Tao Zhang, Xiaomin Liu   +13 more
wiley   +1 more source

CRISPR‐Scan: Cas13a Mismatch Tolerance Enabled Ultra‐Multiplexed Detection of Same‐Site Indels in Acute Myeloid Leukemia

Advanced Science, EarlyView.
Accurately detecting diverse same‐locus insertions or deletions (indels) remains challenging. This study reveals the mismatch‐tolerance profile of LwaCas13a and establishes CRISPR‐Scan, which uses a single crRNA to detect multiple same‐locus indels. The one‐pot assay detects nucleophosmin 1 (NPM1) mutant allele frequencies down to 0.01%, agrees with ...
Linlin Bai, Bei Wang, Mingmin Shi, Dianwei Liu, Huimin Ji, Ting Wang, Ziwei Wang, Kaiming Guo, Xinyang Dou, Chunyan Qian, Fang Zhang, Yongming Wang, Hongju Mao, Rui Wang   +13 more
wiley   +1 more source