Results 101 to 110 of about 837,511 (259)

Inhibition of MEKK3 Prevents Cerebral Cavernous Malformation Progression Via Restoring Endothelial Integrity and Restricting Microglial Activation

Advanced Science, EarlyView.
In this study, we demonstrate that aberrant MEKK3 signaling in endothelial cells and microglia drives the progression of cerebral cavernous malformations (CCMs). Furthermore, we identify DPDH as a potent small‐molecule MEKK3 inhibitor with substantial therapeutic potential for CCM treatment.
Weiwei Zheng, Suyun Yu, Liwenyu Chen, Jing Ma, Peiliang Shen, Chang Yu, Xiaoqing Xin, Qiuhong Shen, Jing Chen, Song Ke, Hao Liu, Xiaobing Jiang, Ruogu Qi, Juming Yan, Jia Li, Jaesung P. Choi, Yin Lu, Yang Zhao   +17 more
wiley   +1 more source

Germline mutations in BRCA1 and BRCA2 among Brazilian women with ovarian cancer treated in the Public Health System

BMC Cancer
Background Germline mutations in BRCA1 and BRCA2 genes are among the main causes of hereditary ovarian cancer. Identifying these mutations may reduce cancer risk, facilitate early detection, and enable personalized treatment.
Caroline de Oliveira Ferreira, Vandré Cabral Gomes Carneiro, Carolline Araujo Mariz   +2 more
doaj   +1 more source

Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications

Diseases
Background: Genetic insights from diverse populations are key to advancing cancer detection, treatment, and prevention. Unlike other Latin American countries, Colombia lacks a centralized registry for germline and somatic mutations in breast and ovarian ...
Robert de Deugd, Julián Camilo Riano, Esther de Vries, Andrés F. Cardona, July Rodriguez, Ana Fidalgo-Zapata, Yesid Sanchez, Santiago Sanchez, Justo Olaya, Daniel de Leon, Carlos Andrés Ossa, Humberto Reynales, Paula Quintero, Elizabeth Vargas, Ute Hamann, Diana Torres   +15 more
doaj   +1 more source

Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study

Human Genomics, 2019
Background Germline BRCA1/2 prevalence is relatively low in sporadic triple-negative breast cancer (TNBC). We hypothesized that non-BRCA genes may also have significant germline contribution to Chinese sporadic TNBC, and the somatic mutational landscape ...
Dandan Yi, Lei Xu, Jiaqi Luo, Xiaobin You, Tao Huang, Yi Zi, Xiaoting Li, Ru Wang, Zaixuan Zhong, Xiaoqiao Tang, Ang Li, Yujian Shi, Jianmei Rao, Yifen Zhang, Jianfeng Sang   +14 more
doaj   +1 more source

MPP8 Facilitates DNA DSB Repair via NHEJ to Promote Chemoresistance of TNBC Independent of Methyl‐H3K9 Binding

Advanced Science, EarlyView.
Chemoresistance is often linked to elevated DNA repair. MPP8 is found to promote breast cancer chemoresistance as a novel NHEJ accessory factor independent of its epigenetic functions. Through multiple protein interactions, MPP8 facilitates association of DNAPK and ligase complexes to promote DNA repair progression.
Rupa Kumari, Jia Fang
wiley   +1 more source

Table S4 from Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients

, 2017
Two Germline Pathogenic ...
Tianfeng Wang (735564), Tie Fan (735566), Jian Bai (231160), Benyao Lin (735567), Meng Lv (367612), Yuntao Xie (489530), Tao Ouyang (735563), Jianguang Zhang (4473517), Zhaoqing Fan (735565), Hua Meng (418570), Lientu Wang (9378392), Lu Yao (444605), Jie Sun (74648), Jinfeng Li (524762)   +13 more
core   +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

Clinical presentations and identified germline mutations of each individual.

, 2015
F, female; Mat, maternal family; Hom/Het, homozygote/heterozygote; SRA, Sequence Read Archive.Clinical presentations and identified germline mutations of each individual.
Liu Yang (23752), Guosheng Wang (779369), Peng Shen (688111), Song Ye (477701), Shusen Zheng (187083), Xinyi Zhao (779370), Weilin Wang (339583)   +6 more
core   +1 more source

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

CaMKIIδ Phosphorylates AUP1 to Promote Pancreatic Tissue Repair and Acinar‐to‐Ductal Metaplasia Formation via Mediating PERK‐Dependent Unfolded Protein Responses

Advanced Science, EarlyView.
CaMKIIδ–AUP1 signaling maintains PERK‐dependent ER homeostasis during ADM‐mediated pancreatic repair. ABSTRACT Pancreatic repair after acute pancreatitis (AP) is essential for restoring tissue integrity, but the intrinsic mechanisms coordinating acinar plasticity and regeneration remain poorly understood.
Yonghao Chen, Ziying Han, Zihan Yang, Jie Wu, Kaixin Peng, Xiuli Zhang, Bintao Qiu, Jianqiang Wu, Xiaomin Hu, Dong Wu, Li Wen   +10 more
wiley   +1 more source