Results 101 to 110 of about 714,611 (262)

Selenium Nanoparticles Selectively Target KRAS G13D to Inhibit Colorectal Cancer

Advanced Science, EarlyView.
The mechanisms of SeNPs therapy in cancer treatment, encompass three parallel actions: (1) seleno‐amino acids, key metabolites, upregulate GPX2 expression, thereby inhibiting tumor metastasis via the GPX2‐HIF1α‐VEGF signaling pathway; (2) selenite (SeO32−), an inorganic metabolite, forms hydrogen bonds with amino acid residues 13–17 of the KRAS G13D ...
Xiaoting Liu, Chong Wu, Shiyao Song, Li Ma, Shaoqing Huang, Yuting He, Qinghai Li, Yanzhou Chang, Dan Jiang, Yong Mei, Junchao Cai, Zhenshuang Du, Tianfeng Chen, Weiling He   +13 more
wiley   +1 more source

Identify truly high-risk TP53-mutated diffuse large B cell lymphoma patients and explore the underlying biological mechanisms

Cell Communication and Signaling
TP53 mutation (TP53-mut) correlates with inferior survival in many cancers, whereas its prognostic role in diffuse large B-cell lymphoma (DLBCL) is still in controversy.
Kai-Xin Du, Yi-Fan Wu, Wei Hua, Zi-Wen Duan, Rui Gao, Jun-Heng Liang, Yue Li, Hua Yin, Jia-Zhu Wu, Hao-Rui Shen, Li Wang, Yang Shao, Jian-Yong Li, Jin-Hua Liang, Wei Xu   +14 more
doaj   +1 more source

Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation

Molecular Genetics and Metabolism Reports, 2018
A study published in 2012 estimated incidence of MPS IVA, in 0.68 cases per 100, 000 live births in Colombia, and according to the Colombian Fund for High-Cost Diseases, in 2014 there were 15 people diagnosed with MPS IV.
Lina Johanna Moreno Giraldo, Ángela María Escudero Rodríguez, Adalberto Sánchez Gómez, José María Satizabal Soto   +3 more
doaj   +1 more source

Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita [PDF]

, 2002
Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Beck-Peccoz, P, Achermann, JC, Romoli, R, Spada, A, Mantovani, G, Persani, L, Jameson, JL, Ozisik, G, Borretta, G   +8 more
core  

SiDT1 Defines Plant Architecture Reminiscent of Green Revolution in Foxtail Millet

Advanced Science, EarlyView.
SiDT1 encodes a GA3‐oxidase that creates a semi‐dwarf, lodging‐resistant architecture reminiscent of the rice Green Revolution. The resulting ideotype performs well under dense planting and provides a valuable genetic resource for high‐yield, mechanized foxtail millet production. ABSTRACT Foxtail millet (Setaria italica) is a drought‐tolerant C4 cereal
Jianzhen Lv, Jinjin Cheng, Zhen Hu, Qian Lan, Yanjun Yang, Chengcheng Pei, Junhao Luo, Zhuang Li, Peiyong Xin, Jijun Yan, Jinfang Chu, Qian Qian, Zhaosheng Kong, Liang Jiang   +13 more
wiley   +1 more source

Leveraging Cancer Mutation Data to Predict the Pathogenicity of Germline Missense Variants [PDF]

, 2023
This thesis explores the potential of leveraging cancer mutation data as an additional line of evidence to enhance the interpretation of germline missense variants.
Haque, Bushra
core  

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

Advanced Science, EarlyView.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu   +23 more
wiley   +1 more source

Identifying a Csmd3+ Microglial Subpopulation that Drives Cold‐to‐Hot Transition and Immune‐Cure in Glioblastoma

Advanced Science, EarlyView.
The study establishes an immune‐cure (ICu) mouse model based on a TMEMed G422TN‐GBM system that faithfully recapitulates human TMEMed GBM. scRNA‐seq analysis reveals a Csmd3+ microglial subset with innate immune memory (IIM) potential that potently suppresses GBM growth, drives a TME cold‐to‐hot transition, and induces 100% ICu in long‐term survival ...
Hai‐Feng Jiang, Pan‐Pan Gao, Yu‐Wen Du, Li‐Qin Wu, En‐Zhi Yin, Qi An, Ze‐Hua Ding, Jin‐Wen Shi, Ya Shu, Ruoqiao Chen, Feng Liu, Mingfeng Li, Xiao Qian Chen   +12 more
wiley   +1 more source

Trafficking Deficiency of TMEM175 Variants in Parkinson's Disease Pathogenesis and the Prospects of Precision Medicine

Advanced Science, EarlyView.
This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo, Yu He, Shuyao Li, Haoyu Guan, Ruili Cui, Yu Shi, Zhongwen Jiang, Siyu Wang, Xuan Li, Jiyuan Li, Mei Hu, Yupeng Zhou, Beisha Tang, Yanyan Zhang, Zhaobing Gao, Yu Zhou, Zhenhua Liu, Ping Li   +17 more
wiley   +1 more source

missense mutation causes familial insulinomatosis and diabetes mellitus.

, 2018
The ?-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing variants have been previously described.
Iacovazzo, Donato;Flanagan, Sarah E;Walker, Emily;Quezado, Rosana;de Sousa Barros, Fernando Antonio;Caswell, Richard;Johnson, Matthew B;Wakeling, Matthew;Brändle, Michael;Guo, Min;Dang, Mary N;Gabrovska, Plamena;Niederle, Bruno;Christ, Emanuel;Jenni, Stefan;Sipos, Bence;Nieser, Maike;Frilling, Andrea;Dhatariya, Ketan;Chanson, Philippe;de Herder, Wouter W;Konukiewitz, Björn;Klöppel, Günter;Stein, Roland;Korbonits, Márta;Ellard, Sian
core   +1 more source