Results 111 to 120 of about 1,540,335 (330)

Characterization of Microplastics in Human Gastric Cancer and Control Tissues and Analysis of Associated Genetic Features

Advanced Healthcare Materials, EarlyView.
This study characterizes the presence of microplastics in human normal gastric, para‐tumor, and gastric tumor tissue and confirms the association between microplastic exposure and lymph node metastasis in gastric cancer. This study explores the transcriptomic changes induced by microplastic exposure, laying the foundation for further investigation into
Liqiao Chen, Jialin Li, Yan Wu, Han Bao, Xuesong Yang, Guoqing Lv, Ke Ji, Ji Zhang, Xiaojiang Wu, Kai Zhou, Jieli Xu, Jiatian Tang, Xiyuan Han, Anqiang Wang   +13 more
wiley   +1 more source

A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family [PDF]

International Journal of Ophthalmology
AIM: To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.
Zhi-Bo Lin, Chun-Yun Feng, Jin Li, An-Peng Pan, Hai-Sen Sun, A-Yong Yu, Shi-Hao Chen   +6 more
doaj   +1 more source

Adenomatoid tumors of the male and female genital tract are defined by TRAF7 mutations that drive aberrant NF-kB pathway activation. [PDF]

, 2018
Adenomatoid tumors are the most common neoplasm of the epididymis, and histologically similar adenomatoid tumors also commonly arise in the uterus and fallopian tube.
Bastian, Boris C, Garg, Karuna, Goode, Benjamin, Grenert, James P, Joseph, Nancy M, Onodera, Courtney, Phillips, Joanna J, Rabban, Joseph T, Solomon, David A, Stevers, Meredith, Talevich, Eric, Van Ziffle, Jessica, Yeh, Iwei, Zaloudek, Charles   +13 more
core   +1 more source

Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study

Breast Cancer Research, 2011
IntroductionBoth protein-truncating variants and some missense substitutions in CHEK2 confer increased risk of breast cancer. However, no large-scale study has used full open reading frame mutation screening to assess the contribution of rare missense ...
F. Le Calvez-Kelm, F. Lesueur, F. Damiola, M. Vallée, C. Voegele, D. Babikyan, G. Durand, Nathalie Forey, Sandrine McKay-Chopin, Nivonirina Robinot, T. Nguyen-Dumont, Alun Thomas, G. Byrnes, J. Hopper, M. Southey, I. Andrulis, E. John, S. Tavtigian   +17 more
semanticscholar   +1 more source

NARFL Knockout Triggers Ferroptosis‐Driven Vascular Endothelial Dysfunction

Advanced Science, EarlyView.
NARFL is vital for CIA and oxidative stress resistance. NARFL deletion in HPMEC cells, zebrafish, and mice is lethal and rescued by a Ferroptosis inhibitor. NARFL deficiency disrupted its interaction with CIA proteins, decreased aconitase activity, increased IRP1 activity, induced Fe overload, and led to ferroptosis and oxidative stress, resulting in ...
Hui Hu, Jing Luo, Li Yu, Daoxi Qi, Boyu Li, Yating Chen, Chen Wang, Xiaokang Zhang, Wenzheng Guo, Qiyong Lou, Gang Zhai, Yonglin Ruan, Jianfei Huang, Shengchi Shi, Zhan Yin, Fang Zheng   +15 more
wiley   +1 more source

Genome‐Wide by Lifetime Environment Interaction Studies of Brain Imaging Phenotypes

Advanced Science, EarlyView.
This study explores genome‐wide by lifetime environment interactions on brain imaging phenotypes. Gene‐environment interactions explain more phenotypic variance than main effects, pinpoint regulatory variants, and reveal exposure‐specific biological pathways.
Sijia Wang, Meiyun Wang, Peng Zhang, Jingliang Cheng, Longjiang Zhang, Wenzhen Zhu, Shijun Qiu, Zuojun Geng, Guangbin Cui, Yongqiang Yu, Weihua Liao, Xi‐Nian Zuo, Hui Zhang, Bo Gao, Xiaojun Xu, Tong Han, Zhenwei Yao, Quan Zhang, Feng Liu, Qiang Xu, Jiayuan Xu, Jilian Fu, Nana Liu, Yuan Ji, Jie Tang, Lining Guo, Mengge Liu, Xiaoxiao Xiao, Xiaoxuan Liu, Wei Li, Caihong Wang, Wei Wei, Dapeng Shi, Su Lui, Zhihan Yan, Feng Chen, Jing Zhang, Wen Shen, Yanwei Miao, Dawei Wang, Jia‐Hong Gao, Yunjun Yang, Kai Xu, Junfang Xian, Bing Zhang, Xiaochu Zhang, Zhaoxiang Ye, Le Yu, Wen Qin, Meng Liang, Chunshui Yu, the CHIMGEN Consortium   +51 more
wiley   +1 more source

Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome

Stem Cell Research
X-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis.
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj   +1 more source

The prognostic value of TP53 mutations in hypopharyngeal squamous cell carcinoma

BMC Cancer, 2017
Background TP53 is the most frequently mutated gene in human cancers. Previous studies reported that TP53 mutations correlated with poor prognoses in patients with head and neck squamous cell carcinoma (HNSCC).
Go Omura, Mizuo Ando, Yasuhiro Ebihara, Yuki Saito, Kenya Kobayashi, Osamu Fukuoka, Ken Akashi, Masafumi Yoshida, Takahiro Asakage, Tatsuya Yamasoba   +9 more
doaj   +1 more source

Bioinformatics Profiling Of Missense Mutations

, 2009
The ability to distinguish missense nucleotide substitutions that contribute to harmful effect from those that do not is a difficult problem usually accomplished through functional in vivo analyses. In this study, instead current biochemical methods, the effects of missense mutations upon protein structure and function were assayed by means of ...
I. Nassiri, B. Goliaei, M. Tavassoli
openaire   +1 more source

TBK1 Induces the Formation of Optineurin Filaments That Condensate with Polyubiquitin and LC3 for Cargo Sequestration

Advanced Science, EarlyView.
Phosphorylation of Optineurin by TBK1 induces the formation of filaments that condensate upon binding to linear polyubiquitin. Membrane‐anchored LC3 partitions into these condensates, suggesting that phase separation of filamentous Optineurin with ubiquitylated cargo promotes the sequestration of cargo and its subsequent alignment with LC3‐positive ...
Maria G. Herrera, Lena Kühn, Lisa Jungbluth, Verian Bader, Laura J. Krause, David Kartte, Elias Adriaenssens, Sascha Martens, Jörg Tatzelt, Carsten Sachse, Konstanze F. Winklhofer   +10 more
wiley   +1 more source