Results 101 to 110 of about 142,271 (283)

Aberrant Splicing Signatures Underpin Oligodendrocyte Damage in ALS and Neuron Loss in FTD

Advanced Science, EarlyView.
Integrating bulk and single‐nucleus RNA‐seq from ALS and FTD patients, we revealed distinct cellular dysfunctions, with severe oligodendrocyte damage in ALS and pronounced neuron loss in FTD. We identified cell‐type‐specific aberrant splicing events as potential biomarkers with robust classification performance, some of which produce de novo peptides ...
Chen Du, Yinming Li, Rong Wu, Yufei Shen, Jiayi Yang, Xuan Xiao, Yu Zhou   +6 more
wiley   +1 more source

Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report

BMC Medical Genetics, 2018
Background X-linked lymphoproliferative syndrome type 1 (XLP1) is an X-linked recessive genetic disorder with a strong resemblance to hemophagocytic lymphohistiocytosis (HLH).
Xiaodong Lyu, Zhen Guo, Yangwei Li, Ruihua Fan, Yongping Song   +4 more
doaj   +1 more source

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

Advanced 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, Xiaojuan Ge, Dongxu Fu, Haijun Mei, Feng Lv, Chao Yang, Jiahao Lu, Xiaozhong Shen, Bowen Li, Xiaoning Wang, Dong Liu   +10 more
wiley   +1 more source

A novel nonsense mutation in cathepsin C gene in an Egyptian patient presenting with Papillon–Lefèvre syndrome

Egyptian Journal of Medical Human Genetics, 2015
Background Cathepsin C gene (CTSC) (MIM#602365) is a lysosomal cysteine proteinase coding gene which encodes for CTSC protein that plays a major role in the activation of granule serine proteases, particularly leukocyte elastase and granzymes A and B ...
Hala Soliman, Heba Gamal Eldeen, Mustafa Ibrahim Mustafa   +2 more
doaj   +1 more source

Comparative genome analysis of Wolbachia strain wAu [PDF]

, 2014
BACKGROUND: Wolbachia intracellular bacteria can manipulate the reproduction of their arthropod hosts, including inducing sterility between populations known as cytoplasmic incompatibility (CI). Certain strains have been identified that are unable to
Harris, Simon R., Parkhill, Julian, Sinkins, Steven P., Sutton, Elizabeth R.   +3 more
core   +2 more sources

Targeting IL27RA Enhances Immunotherapy in Triple‐Negative Breast Cancer by Modulating Tumor Cells and the Tumor Microenvironment

Advanced Science, EarlyView.
IL27RA upregulation drives immune evasion in TNBC by suppressing MHC‐I expression and reprogramming T/NK‐cell states, establishing an immune‐excluded tumor phenotype. Targeting this epithelial‐intrinsic IL27RA–PI3K/AKT axis offers a promising strategy to overcome immunotherapy resistance.
Jiachi Xu, Qian Long, Meirong Zhou, Qitong Chen, Jing Peng, Qingchun Liang, Danhua Zhang, Hui Zhou, Wenjun Yi   +8 more
wiley   +1 more source

Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis.

PLoS Genetics, 2014
When two mutations, one dominant pathogenic and the other "confining" nonsense, coexist in the same allele, theoretically, reversion of the latter may elicit a disease, like the opening of Pandora's box.
Yasushi Ogawa, Takuya Takeichi, Michihiro Kono, Nobuyuki Hamajima, Toshimichi Yamamoto, Kazumitsu Sugiura, Masashi Akiyama   +6 more
doaj   +1 more source

SomInaClust: detection of cancer genes based on somatic mutation patterns of inactivation and clustering [PDF]

, 2015
Background: With the advances in high throughput technologies, increasing amounts of cancer somatic mutation data are being generated and made available.
Fierro Gutierrez, Ana Carolina Elisa, Marchal, Kathleen, Van den Eynden, Jimmy, Verbeke, Lieven   +3 more
core   +2 more sources

TOPK Inhibition Promotes Anti‐Tumor Immunity Via eIF4F Complex Mediated STAT1 Translation in Gastric Cancer

Advanced Science, EarlyView.
This study identifies TOPK as a dual‐function target in gastric cancer: it drives tumor cell proliferation and migration, and under IFN‐γ stimulation, phosphorylates eIF4F complex component eIF4A1 to enhance STAT1 mRNA translation, thereby promoting PD‐L1/IDO1‐mediated tumor immunometabolic evasion.
Junbing Chen, Longtao Huangfu, Gangjian Wang, Xueying Wang, Huanbo Zhu, Qian Yao, Cong Chen, Xiaohuan Tang, Ting Guo, Biao Fan, Xingyang Liu, Qingda Li, Zining Liu, Ying Hu, Tianze Sun, Jiafu Ji, Xiaofang Xing   +16 more
wiley   +1 more source

Inhibition of Nonsense-Mediated mRNA Decay by Antisense Morpholino Oligonucleotides Restores Functional Expression of hERG Nonsense and Frameshift Mutations in Long-QT Syndrome

, 2010
Mutations in the human ether-a-go-go-related gene (hERG) cause long-QT syndrome type 2 (LQT2). We previously described a homozygous LQT2 nonsense mutation Q1070X in which the mutant mRNA is degraded by nonsense-mediated mRNA decay (NMD) leading to a ...
Bhuiyan, Bhuiyan, Conti, Curran, Dominski, Friedman, Frischmeyer, Gong, Gong, Gritz, Holbrook, Howard, Jearawiriyapaisarn, Kapplinger, Khajavi, Kuzmiak, Le Hir, Le Roy, Linde, Lykke-Andersen, Matthew R. Stump, Millat, Nagy, Napolitano, Nicholson, Qiuming Gong, Sanguinetti, Schwartz, Shimizu, Splawski, Stalder, Tester, Trudeau, Usuki, Wu, Yao, Zhang, Zhengfeng Zhou, Zhou, Zhou   +39 more
core   +1 more source