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Effects of miRNAs in inborn error of metabolism and treatment strategies.
Postgrad Med J
January 2025
Department of Pediatric Metabolic Diseases, University of Health Sciences, Ankara Etlik City Hospital, Ankara 06170, Turkey.
Metabolism is the name given to all of the chemical reactions in the cell involving thousands of proteins, including enzymes, receptors, and transporters. Inborn errors of metabolism (IEM) are caused by defects in the production and breakdown of proteins, fats, and carbohydrates. Micro ribonucleic acids (miRNAs) are short non-coding RNA molecules, ⁓19-25 nucleotides long, hairpin-shaped, produced from DNA.
View Article and Find Full Text PDFVps4a Mediates a Unified Membrane Repair Machinery to Attenuate Ischemia/Reperfusion Injury.
Circ Res
January 2025
Center for Genetic Medicine, the Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu, China (X.H., J.Z., C.X., R.C., P.J., X.J., P.H.).
Background: Cardiac ischemia/reperfusion disrupts plasma membrane integrity and induces various types of programmed cell death. The ESCRT (endosomal sorting complex required for transport) proteins, particularly AAA-ATPase Vps4a (vacuolar protein sorting 4a), play an essential role in the surveillance of membrane integrity. However, the role of ESCRT proteins in the context of cardiac injury remains unclear.
View Article and Find Full Text PDFAnalysis of the benefit of anti-PD-1 monotherapy according to NGS-diagnosed genetic alterations in patients with non-small cell lung cancer.
Explor Target Antitumor Ther
December 2024
Department of Thoracic Oncology, Georges Pompidou European Hospital, Paris Cité University, AP-HP, CARPEM, 75015 Paris, France.
Aim: Immune checkpoint inhibitors improved the survival of advanced non-small cell lung cancer. However, only 20% of patients respond to these treatments and the search for predictive biomarkers of response is still topical. The objective of this work is to analyze the anti-PD-1 monotherapy benefit based on genetic alterations diagnosed by next generation sequencing (NGS), in advanced non-small cell lung cancer.
View Article and Find Full Text PDFWhen Essential Thrombocythemia Goes Triple-Negative: A Case of Acquired von Willebrand Disease.
Cureus
December 2024
Academic Affairs and Research, Orlando Regional Medical Center, Orlando, USA.
Essential thrombocythemia (ET) is a type of myeloproliferative neoplasm (MPN) disorder characterized by persistent thrombocytosis and characterized by frequent association with cellular genetic alterations. The 10%-15% of ET that is not associated with genetic abnormalities is known as triple-negative essential thrombocythemia (TNET). A common complication observed in around 20% of ET patients is the development of acquired von Willebrand disease (AvWD).
View Article and Find Full Text PDFFer-1 like family member 4 pseudogene: novel potential diagnostic and prognostic biomarker for cutaneous melanoma.
EXCLI J
November 2024
Department of Diagnostics and Cancer Immunology, Greater Poland Cancer Center, 15 Garbary Street, 61-866 Poznan, Poland.
Cutaneous melanoma is the deadliest form of skin cancer. Despite advancements in treatment, many patients still face poor outcomes. A deeper understanding of the mechanisms involved in melanoma pathogenesis is crucial for improving diagnosis and therapy.
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