Results 41 to 50 of about 1,485 (158)

The emerging role of Nrf2 in heart failure: From cardioprotection to therapeutic approaches

ESC Heart Failure, EarlyView.
Nrf2 signalling is impaired in heart failure, contributing to oxidative stress, mitochondrial dysfunction, and ferroptosis, which drive neurohormonal activation, inflammation, and ischaemia‐reperfusion injury. This loss of Nrf2 activity exacerbates hypertension, diabetic cardiomyopathy, and cardiotoxicity, accelerating progression to overt heart ...
Emiliano Fiori, Sergio Davinelli, Armando Ferrera, Alessandro Medoro, Carlo Barsali, Allegra Battistoni, Maurizio Volterrani, Massimo Volpe, Luciano Saso, Speranza Rubattu   +9 more
wiley   +1 more source

Event-related potential (ERP) evidence for early visual processing differences in children and adults with Cystinosis (CTNS gene mutations) [PDF]

, 2023
Douwe J. Horsthuis, Sophie Molholm, John J. Foxe, Ana A. Francisco   +3 more
openalex   +1 more source

Thyroid Cancer: Pathogenesis, Clinicopathology, Diagnosis, and Management

MedComm, Volume 6, Issue 11, November 2025.
Thyroid cancer risk is influenced by both genetic and modifiable factors, including mutations, radiation exposure, lifestyle, and pre‐existing benign conditions. Diagnosis involves physical exams, ultrasound, scintigraphy, laboratory tests, and fine‐needle aspiration biopsy (FNAB).
Yu‐Dong Li, Qing‐Yao Ye, Yan‐Xing Chen, Xia‐Rong Hu   +3 more
wiley   +1 more source

Non‐Random Distribution of EMS‐Induced Mutations Reveals Preference for Open Chromatin and Expressed Genes in Rice

Advanced Science, Volume 12, Issue 39, October 20, 2025.
Mutagenesis is an effective method for generating genetic resources with a long history in breeding; however, the randomness of chemical‐induced mutations has not been systematically investigated. In this study, over 7 million SNPms are identified in an EMS‐induced population, revealing that these mutations are non‐randomly distributed and ...
Xue‐Feng Yao, Yanhong Liu, Zhiyong Li, Guo‐Qiang Jiang, Wensheng Wang, Hong Lu, Huihui Li, Zefu Lu, Chun‐Ming Liu   +8 more
wiley   +1 more source

The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis.

PLoS ONE, 2019
BACKGROUND:Cystinosis is a rare disorder caused by recessive mutations of the CTNS gene. Current therapy decreases cystine accumulation, thus slowing organ deterioration without reversing renal Fanconi syndrome or preventing eventual need for a kidney ...
Emma J Brasell, Lee Lee Chu, Murielle M Akpa, Idit Eshkar-Oren, Iris Alroy, Rachel Corsini, Brian M Gilfix, Yojiro Yamanaka, Pedro Huertas, Paul Goodyer   +9 more
doaj   +1 more source

Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease

Frontiers in Pediatrics, 2018
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body ...
Sören Bäumner, Lutz T. Weber
doaj   +1 more source

A rare case of a patient with cystinosis and COVID-19 pneumonia with difficult weaning from mechanical ventilation: the “pocus force”

Journal of Anesthesia, Analgesia and Critical Care, 2022
Here, we describe the case of a 39-year-old woman with cystinosis who already suffered from an extra parenchymal pattern of restrictive lung disease and, after SARS-CoV-2-related respiratory failure, had a difficult weaning from mechanical ventilation ...
Luigi Vetrugno, Valentina Angelini, Simone Antonio Smiraglia, Elisabetta Saraceni, Pierluigi Di Giannatale, Salvatore Maurizio Maggiore   +5 more
doaj   +1 more source

Acute Myocardial Infarction: Molecular Pathogenesis, Diagnosis, and Clinical Management

MedComm, Volume 6, Issue 10, October 2025.
Key pathogenic mechanisms in AMI. Oxidative stress and mitochondrial dysfunction induce ROS accumulation, while DAMPs‐PRRs interaction triggers inflammatory cascades. Programmed cell death pathways and epigenetic regulation collectively constitute the core components of AMI pathogenesis.
Mengmeng Zhu, Yiwen Li, Qian Xu, Wenting Wang, Yanfei Liu, Yue Liu   +5 more
wiley   +1 more source

Measurable residual disease‐guided therapy in acute myeloid leukaemia: Practical insights

British Journal of Haematology, Volume 207, Issue 4, Page 1192-1212, October 2025.
Summary Measurable residual disease (MRD) is a prognostic marker in patients with acute myeloid leukaemia (AML). This review examines the role of MRD assessment in guiding treatment strategies. We evaluate key questions, such as the prognostic power of MRD in specific genetic subgroups of AML, the optimal pre‐emptive approach for MRD persistence or ...
Boaz Nachmias, Arnon Haran, Meira Yisraeli Salman, Eytan M. Stein   +3 more
wiley   +1 more source

Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study

Annals of the Child Neurology Society, Volume 3, Issue 3, Page 176-187, September 2025.
ABSTRACT Importance Leukodystrophies are a diverse group of rare disorders that disrupt central myelination. These disorders present with a broad spectrum of neurological severity and are associated with a range of potential secondary complications, such as scoliosis and failure of independent feeding.
Emma R. Kotes, Sarah Woidill, Russell D'Aiello, Amina Khan, Jacob McCann, Mark Ramos, Francesco Gavazzi, Stephanie Keller, Keith Van Haren, Ali Fatemi, Florian Eichler, Joshua Bonkowsky, Jamie Fraser, Lisa Emrick, Omar Sherbini, Ashley Hackett, Jeilo Gauna, Dandre Amos, Jordan Goodman, Amena Smith Fine, Amanda Nagy, Seungil Lee, Nicole Page, Johanna Schmidt, Amy Pizzino, Kayla Muirhead, Mariko Bennett, Amy Waldman, Justine Shults, Laura Adang, Robert Grundmeier, Adeline Vanderver   +31 more
wiley   +1 more source