Results 101 to 110 of about 64,503 (262)

Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling Xeroderma pigmentosum group A

Stem Cell Research
Xeroderma pigmentosum group A (XPA) is an inherited skin disorder characterized by sensitivity to ultraviolet radiation. In Maghrebi patients, a homozygous mutation in exon 6 of the XPA gene (c.682C>T) results in the introduction of a premature ...
Halida P. Widyastuti, Babet van der Vaart, Spyridon T. Pachis, Christian Freund, Xavier Gidrol, Karine Raymond   +5 more
doaj   +1 more source

Multi‐Omics Integration Identifies a CDH3‐Associated Malignant Epithelial State and Immunosuppressive Niche to Predict Prognosis in Thymic Epithelial Tumors

Advanced Science, EarlyView.
Single‐cell, spatial, molecular, and pathology analyses identify a CDH3‐associated malignant epithelial state in thymic epithelial tumors. This state links stem‐like and EMT programs to M2 macrophage–rich immunosuppressive niches, genomic instability, poor survival, and drug vulnerability.
Yuntao Feng, Jingyu Chen, Lang Xia, Tao Wang, Yuzhou Wang, Lei Zhang, Guofang Zhao, Long Xu, Juemin Yu, Yunlang She, Junqi Wu, Yue Zhao, Chang Chen, Deping Zhao   +13 more
wiley   +1 more source

BOULE is Essential for the Dynamic Disassembly of Heat Shock Granules in Male Germ Cells

Advanced Science, EarlyView.
BOULE orchestrates stress granule disassembly in germ cells via a two‐pronged mechanism: it promotes G3BP1 ubiquitination by upregulating TRIM27, generating a signal for VCP/FAF2 recruitment, and it maintains G3BP1 and FAF2 protein levels. BOULE deficiency disrupts disassembly complex formation, leading to impaired heat shock granule clearance ...
Xin Li, Nana Zhang, Zexin Bian, Baobao Geng, Liyun Cao, Peipei Liu, Zengming Li, Yan Zhao, Jun Tan   +8 more
wiley   +1 more source

SR‐A3 Promotes USP18‐Mediated deISGylation of STING to Protect Against Myocardial Ischemia‐Reperfusion Injury

Advanced Science, EarlyView.
MI/RI is a major clinical challenge with high morbidity and mortality. This study demonstrates that SR‐A3 expression is downregulated in MI/RI, and its deletion exacerbates damage via the USP18/ISG15/STING axis, revealing SR‐A3 as a potential therapeutic target.
Yufei Han, Guolin Miao, Yinqi Zhao, Zhiyong Du, Kaikai Lu, Changqi Xiao, Aiden Xian, Jiaxin Duanmu, Zihao Zhou, Jinxuan Chen, Lianxin Zhang, Chao Zhai, Yitong Xu, Zhaoling Li, Xianqin Shen, Sijing Shi, Jingxuan Chen, Si Mei, Yuan Fang, Liwen Zheng, Ling Zhang, Yuhui Wang, Wei Huang, Erdan Dong, Xunde Xian   +24 more
wiley   +1 more source

Genetic Modifiers of ABCA1 Activity Interact with APOE Isoforms to Mediate Alzheimer's Disease Risk

Annals of Neurology, EarlyView.
Objective ATP‐binding cassette transporter A1 (ABCA1) has been associated with Alzheimer's disease (AD), but the mechanisms by which it impacts disease risk are unknown. ABCA1 is known to bind apolipoprotein E (ApoE) and catalyze apolipoprotein lipidation.
Andrés Peña‐Tauber, Ricardo Hernández Arriaza, Dylan Reil, Manon Muntaner, Junyoung Park, Benjamin Grenier‐Boley, Marc Hulsman, Philippe Amouyel, Céline Bellenguez, Camille Charbonnier, Jean‐François Deleuze, Orio Dols‐Icardo, John Hardy, Henne Holstege, Gaël Nicolas, Simon Mead, Michael Wagner, Alfredo Ramirez, Rebecca Sims, John van Swieten, Julie Willams, Jean‐Charles Lambert, Chaitan Khosla, Yann Le Guen, Michael D Greicius   +24 more
wiley   +1 more source

The Role of miRNAs in Chicken Immune Regulation and Prospects for Disease‐Resistant Breeding

Animal Research and One Health, EarlyView.
A schematic workflow illustrating the screening of disease‐resistant miRNAs and the generation of miRNA‐based disease‐resistant chickens via PGC‐mediated germline genome editing. ABSTRACT MicroRNAs (miRNAs) are emerging as pivotal regulators of the immune system, playing a decisive role in shaping disease resistance in chicken.
Qiangzhou Wang, Weiran Wu, Qingqing Cai, Jiaxing Wang, Qi Gao, Muhammad Iftikhar, Yulin Bi, Hao Bai, Lihong Gu, Guobin Chang, Shihao Chen   +10 more
wiley   +1 more source

Integrating One Health to Mitigate the Emergence and Spread of Antimicrobial Resistance in Livestock and Aquaculture

Animal Research and One Health, EarlyView.
Antimicrobial resistance (AMR) is an escalating global threat driven by antimicrobial use in aquaculture and livestock. Resistant pathogens and genes can spread across humans, animals, and the environment through interconnected ecosystems. Using a One Health approach, this review emphasizes antimicrobial stewardship, regulatory strengthening, enhanced ...
Mir Mohammad Ali, Delower Hossain, Ridwan Olamilekan Adesola, Anum Hanif, Shamsaldeen Ibrahim Saeed, Muhammad Abdul Mannan, Anoar Jamai Masroure, Kazi Estieque Alam, Md Kamal Hossain, Sabiha Zarin Tasnim Bristi, Md Jisan Ahmed   +10 more
wiley   +1 more source

CRISPR-Cas9 genome editing in the parental iPSC line PCIi033-A to introduce the homozygous mutation p.F508del (c.1521_1523del) in the CFTR gene

Stem Cell Research
Cystic Fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene. Patients carrying the most common mutation, p.F508del, benefit from the triple therapy Kaftrio®. We genome-edited the commercially available iPSC line PCIi033-A (
Benjamin Simonneau, Sandrine Baghdoyan, Michel Cailleret, Stéphanie Simon, Odile Ruckebusch, Barbora Vrablikova, Karine Giraud-Triboult, Lina El Kassar, Pascale Fanen, Bénédicte Duriez   +9 more
doaj   +1 more source

Dnmt3a Mutations Limit Normal and Autoreactive CD4+ T Follicular Helper Responses and Attenuate T Cell–Driven Joint Inflammation

Arthritis &Rheumatology, EarlyView.
Objective Somatic DNMT3A mutations are the most common drivers of clonal hematopoiesis in patients with rheumatoid arthritis (RA) and have been associated with seropositive disease and increased markers of inflammation. These mutations are predominantly hypomorphic or dominant‐negative, reducing DNMT3A function.
Yunbing Shen, Sanjaykumar Boddul, Zhaojun Li, Zsolt Kasza, Marlene Schülein, Bruno Raposo, Karine Chemin, Per‐Johan Jakobsson, Alexander Espinosa, Lars Klareskog, Fredrik Wermeling   +10 more
wiley   +1 more source

Peripheral Blood DNA Methylation Changes Precede Lymphoma Diagnosis in Primary Sjögren's Disease

Arthritis &Rheumatology, EarlyView.
Objective Primary Sjögren's disease (SjD) is a systemic autoimmune disease associated with an increased risk of lymphoma. The molecular mechanisms underlying lymphomagenesis remain poorly understood, and sensitive biomarkers for early identification of patients at high risk of developing lymphoma are lacking.
Hanna Lidberg, Cecilia Fugmann, Juliana Imgenberg‐Kreuz   +2 more
wiley   +1 more source