Results 51 to 60 of about 21,286 (221)

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

Unlocking life-threatening COVID-19 through two types of inborn errors of type I IFNs

The Journal of Clinical Investigation, 2023
Since 2003, rare inborn errors of human type I IFN immunity have been discovered, each underlying a few severe viral illnesses. Autoantibodies neutralizing type I IFNs due to rare inborn errors of autoimmune regulator (AIRE)–driven T cell tolerance were ...
Jean-Laurent Casanova, Mark S. Anderson
doaj   +1 more source

Mettl3‐Mediated m6A Modification Represents a Novel Therapeutic Target for FSGS

Advanced Science, EarlyView.
This study explores the roles of Mettl3‐induced N6‐methyladenosine (m6A) modifications in Focal segmental glomerulosclerosis (FSGS). The findings reveal that inhibition of Mettl3 results in podocyte injury by modulating the TJP1CDC42 pathway. Moreover, Administration of N6‐methyladenosine attenuates the FSGS phenotype in WT mice induced by Adriamycin ...
Fubin Zhu, Hongzhi Li, Xiang Li, Chunxiu Du, Ting Wang, Xuling Zhou, Xiaobei Xie, Yunxia Shao, Yingzhi Huang, Yanling Hu, Xinxin Guo, Bin Zhu, Shanshan Yu, Xiaoyan Zhang, Binghai Zhao   +14 more
wiley   +1 more source

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes

Medicina, 2019
The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin.
Laura Cristina Gironi, Francesca Zottarelli, Gianfranco Savoldi, Lucia Dora Notarangelo, Maria Eleonora Basso, Ivana Ferrero, Fabio Timeus, Franca Fagioli, Luigi Maiuri, Enrico Colombo, Paola Savoia   +10 more
doaj   +1 more source

Hyperandrogenemia Induces Trophoblast Ferroptosis and Early Pregnancy Loss in Patients With PCOS via CMA‐Dependent FTH1 Degradation

Advanced Science, EarlyView.
In PCOS patients with hyperandrogenemia, decreased ferritin heavy chain 1 (FTH1) causes Fe2⁺ overload and ferroptosis in trophoblasts. Androgens induce FTH1 protein degradation via AR‐LAMP2A‐mediated chaperone‐mediated autophagy pathway, leading to placental development disruption and early pregnancy loss. Metformin mitigates androgen‐induced placental
Hanjing Zhou, Weijie Yang, Na Liu, Qing Liu, Jiamin Jin, Chenqiong Zhao, Xiaoying Jin, Miao Gui, Haiyan Zhu, Songying Zhang, Yinli Zhang   +10 more
wiley   +1 more source

Current genetic diagnostics in inborn errors of immunity

Frontiers in Pediatrics
New technologies in genetic diagnostics have revolutionized the understanding and management of rare diseases. This review highlights the significant advances and latest developments in genetic diagnostics in inborn errors of immunity (IEI), which ...
Sandra von Hardenberg, Isabel Klefenz, Doris Steinemann, Nataliya Di Donato, Ulrich Baumann, Bernd Auber, Christian Klemann, Christian Klemann   +7 more
doaj   +1 more source

Evaluating the Role of Genetic Testing for Inborn Errors of Immunity in Pediatric Patients with Very Early-Onset and Early-Onset Inflammatory Bowel Disease

Journal of Human Immunity
Introduction The incidence of inflammatory bowel disease (IBD) has significantly increased in developing countries over the last decade with a rising prevalence among the pediatric population. Very early-onset IBD (VEOIBD), defined as IBD in children younger than 6 years, requires a comprehensive diagnostic approach
Sarah Afzal, Elisabeth Hoyte, Rachel Bensen, David Lewis, Alka Goyal, Yael Gernez   +5 more
openaire   +1 more source

USP9X as a Candidate Mediator of Prenatal Aspirin‐Induced Ovarian Reserve Reduction in Offspring Mice

Advanced Science, EarlyView.
This study suggests that prenatal aspirin exposure is associated with reduced ovarian reserve in offspring, associated with HDAC1‐linked epigenetic downregulation of Usp9x as a candidate mechanism. These preclinical findings provide new insights into fetal‐origin ovarian disorders and contribute to the evidence base concerning aspirin's gestational ...
Yating Li, Caiyun Ge, Wai Yen Yim, Hui Feng, Tiancheng Wu, Lu Chen, Qiaohua Xiong, Shumin Pan, Mei Wang, Huijun Chen, Yuanzhen Zhang, Hui Wang   +11 more
wiley   +1 more source

Quantifying prior probabilities for disease-causing variants reveals the top genetic contributors in inborn errors of immunity

Abstract Background Accurate interpretation of genetic variants requires a quantitative estimate of how likely a variant is to contribute to disease, accounting for both observed and unobserved causal alleles across different inheritance modes ...
Simon Boutry, Ali Saadat, Maarja Soomann, Johannes Trück, D. Sean Froese, Jacques Fellay, Sinisa Savic, Luregn J. Schlapbach, Dylan Lawless   +8 more
openaire   +1 more source

Inactivation of AXL in Cardiac Fibroblasts Alleviates Right Ventricular Remodeling in Pulmonary Hypertension

Advanced Science, EarlyView.
Pulmonary hypertension (PH) is a progressive condition with high morbidity and mortality, largely owing to right ventricular (RV) failure resulting from maladaptive remodeling. Our study provides strong evidence in support of a critical, detrimental role for AXL as a previously unrecognized determinant driving RV fibrotic pathology in PH.
Li‐Wei Wu, Min Chen, Chen‐Yu Jiang, Dai‐Ji Jiang, Xu Zhang, Xiao‐He Xu, Yi‐Wei Liu, Bei Feng, Lin‐Cai Ye, Yang‐Yang He, Xu Huang, Yi‐Chi Zhang, Xing‐Liang Zhou, Yi Shen, Tian‐Yu Liu, Li‐Jun Fu, Yi Yan, Hao Zhang   +17 more
wiley   +1 more source