Results 141 to 150 of about 143,230 (264)

Single‐Cell Profiling Identifies SLC2A5‐Mediated Fructose Metabolism as a Vulnerability in Primary CNS Lymphoma

Advanced Science, EarlyView.
Glucose deprivation in the primary CNS lymphoma (PCNSL) tumor microenvironment drives SLC2A5 (encoding GLUT5)‐dependent fructose metabolism in tumor cells, while hypoxia induces HIF‐mediated SLC2A5 expression in tumor‐supportive macrophages, revealing SLC2A5‐driven fructose utilization as a shared and targetable metabolic vulnerability across malignant
Qiaoli Wu, Qianru Zhang, Wenqiang Yan, Lu Sun, Yiran Cui, Bolin Liu, Guoqing Han, Feng Zhang, Ke Pu, Mingchao Zhang, Xiaobing Zhang, Qingguo Li, Gang An, Yuxuan Liu   +13 more
wiley   +1 more source

LHFPL5 splice site variant in a cat with deafness and vestibular dysfunction. [PDF]

Anim Genet
Perret AC, Guevar J, Jagannathan V, Leeb T.   +3 more
europepmc   +1 more source

Whole‐Genome Sequencing Pilot of the Central Asian Genomic Diversity Project Reveals Distinct Histories, Adaptation, and Introgression

Advanced Science, EarlyView.
As a pilot phase of the Central Asian Genomic Diversity Project, whole‐genome sequencing of 166 individuals from 20 Central Asian and Afghan Hazara populations reveals fine‐scale substructure shaped by repeated trans‐Eurasian migration and admixture. Integrated analyses uncover post‐admixture adaptation, archaic introgression, and medically relevant ...
Mengge Wang, Shuhan Duan, Qiuxia Sun, Renkuan Tang, Lintao Luo, Jie Zhong, Zhaxylyk Sabitov, CAGDP Consortium†, Lan‐Hai Wei, Chao Liu, Maxat Zhabagin, Guanglin He   +11 more
wiley   +1 more source

Challenging the recessive paradigm of Mahvash disease: heterozygous phenotypes from a novel splice-site variant. [PDF]

Arch Endocrinol Metab
Bugallo FM, de GG, Prieto-Morín C.
europepmc   +1 more source

CXCL10/SLC11A1 Axis Exacerbates Septic Liver Injury by Regulating Neutrophil Extracellular Traps Formation to Drive Macrophage Pro‑Inflammatory Polarization

Advanced Science, EarlyView.
In sepsis‐induced liver injury, marked neutrophil infiltration correlates with disease severity. Neutrophil SLC11A1 drives intracellular Fe2+ and ROS via the Fenton reaction, promoting NETs formation. Hepatocyte‐derived CXCL10 recruits neutrophils and activates the JAK/STAT1/SLC11A1 axis, enhancing NETs‐mediated inflammation.
Haiping Lin, Shicong Zheng, Pei Song, Jie Chang, Zewei Chen, Cang Li, Min Yu, Lude Wang, Shian Yu   +8 more
wiley   +1 more source

Identification of a Novel Homozygous SCN1B Splice-Site Variant in a Consanguineous Families With Early-Onset Epilepsy: A Case Series and Review of Literature. [PDF]

Mol Genet Genomic Med
Muhammad A, Ramzan S, Yousaf H, Ghumman RZ, Ali FB, Khalily MA, Ali A, Ali W, Zia S, Khan NU, Sarwar MT, Toft M, Iqbal Z, Fatima A.   +13 more
europepmc   +1 more source

Multi‐tissue Metabolic GWAS and Drought‐Responsive Multi‐omics Reveal the Genetic Basis of the Quinoa Metabolome

Advanced Science, EarlyView.
A multi‐omics framework combining multitissue genome‐wide association studies, metabolomics, transcriptomics, proteomics, and functional validation uncovers the genetic basis of specialized metabolism in quinoa. The study identifies hundreds of metabolite‐associated loci, prioritizes candidate genes for saponin, betalain, and flavonoid biosynthesis ...
Julia von Steimker, Elodie L. Rey, Clara Stanschewski, Regina Wendenburg, Annabella Klemmer, Markéta Macho, Venkatesh P. Thirumalaikumar, Noha O. Saber, Aleksandra Skirycz, Alisdair R. Fernie, Mark Tester, Saleh Alseekh   +11 more
wiley   +1 more source

A homozygous splice-site variant in <i>ZMYND10</i> causes primary ciliary dyskinesia with primary infertility in a Chinese family. [PDF]

Front Med (Lausanne)
He J, Lu X, Guo M, Yang B, Zhou X, Liu Y, Fan H, Yang D, Luo H.   +8 more
europepmc   +1 more source

Splice-Site Mutation [PDF]

, 2019
openaire   +1 more source

8‐Oxoguanine Modified CircMTUS1 Drives PABPC1 Phase Separation to Promote Gastric Cancer Progression and Cisplatin Resistance via Autophagy

Advanced Science, EarlyView.
ABSTRACT Gastric cancer (GC) is a major global health concern, as its prevention and treatment remain significant challenges. The 8‐oxoguanine (o8G) modification of circRNAs, alongside their capacity to orchestrate liquid‐liquid phase separation (LLPS) and autophagy, plays a pivotal role in driving tumor progression and determining therapeutic outcomes.
Lei Peng, Lurong Li, Zhenghui Zhu, Chenyang Li, Huaiming Sang, Guoxin Zhang, Xuan Li, Yini Dang, Yuanyuan Li   +8 more
wiley   +1 more source