Results 71 to 80 of about 8,657 (242)
A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family
Sultan Qaboos University Medical Journal, 2011 Objectives: The objective of this study was to characterise Wilson's Disease (WD) [OMIM 277900] genetically and test for allelic variants in the copper transport gene (ATPase, Cu++ transporting, beta polypeptide, ATP7B) responsible for the disease in an ...
Mohammed Al-Tobi +3 more
doaj
A Novel Mutation of ATP7B Gene in a Case of Wilson Disease [PDF]
, 2021 Çiğdem Yüce Kahraman +5 more
openalex +1 more source
Experimental Physiology, Volume 111, Issue 2, Page 539-555, 1 February 2026.Abstract Recent studies highlight the important roles of cuproptosis in cancer cells. However, the roles of the cuproptosis‐related genes (CRGs) in different cancers are still not fully understood. Comprehensive analysis was performed using open‐source bioinformatic platforms to disclose the expression profiles, prognostic significance, genomic and ...
Xinyu Ge +10 more
wiley +1 more source
Pharmacogenomics and Personalized Medicine, 2022 Yuhui Yun,1,* Yun Wang,2,* Ende Yang,1 Xin Jing1 1Department of Thoracic Surgery, Tangdu Hospital, The Fourth Military Medical University, Xi’an, Shaanxi, 710038, People’s Republic of China; 2Department of Medical Oncology, Tangdu Hospital, The ...
Yun Y, Wang Y, Yang E, Jing X
doaj
Journal of clinical laboratory analysis (Print), 2022 Wilson disease (WD) is an autosomal recessive copper metabolic disorder caused by mutations in ATP7B. Sanger sequencing is currently used for ATP7B variant identification.
S. Jia +8 more
semanticscholar +1 more source
Chemistry – A European Journal, Volume 32, Issue 1, 2 January 2026.HXE modulates Cu(Aβ) interaction, reducing ROS production and shifting peptide aggregation in the presence of Cu from toxic amorphous aggregates to less harmful fibrillar structures. These findings highlight HXE potential to interfere with Cu‐induced oxidative stress and aggregation pathways relevant to AD.
Barbara Marinho Barbosa +9 more
wiley +1 more source
Physiologic function of the Wilson disease gene product, ATP7B [PDF]
The American Journal of Clinical Nutrition, 1998 The genes responsible for Wilson disease and Menkes syndrome have been cloned and identified as copper ATPases. These enzymes form part of a large family of transporters, the P-type ATPases. Although copper ATPases share strong structural similarities with these other pumps, comparatively little is known about their physiologic function. In this review,
M J, Bingham +4 more
openaire +2 more sources
Advanced Science, Volume 13, Issue 1, 5 January 2026.The Bimetallic Nanozyme Amplifier (PEG@AuCZ@CC) to maximize hydrogen peroxide production and reprogram tumor metabolism from glycolysis to oxidative phosphorylation. This shift enhances ferroptotic/cuproptotic signaling cascades and creates a glucose‐enriched but lactate‐depleted tumor microenvironment (TME), effectively overcoming immune tolerance in ...
Jianzhang Luo +9 more
wiley +1 more source
Frontiers in Genetics, 2021 Next-generation sequencing is effective for the molecular diagnosis of genetic diseases. However, the identification of the clinical significance of synonymous variants remains a challenge. Our previous study showed that some synonymous variants in ATP7B
Xiaoying Zhou +7 more
semanticscholar +1 more source
Hepatic Lenticular Degeneration With Renal Tumors: A Case Series
Clinical Case Reports, Volume 14, Issue 1, January 2026.ABSTRACT This article presents a series of cases involving hepatic lenticular degeneration (Wilson's disease) complicated by renal tumors. It details the clinical manifestations, diagnostic procedures, treatment strategies, pathological features and outcomes of these patients. We found that this type of patient has an early‐onset disease, complex tumor
Haibing Xiao +9 more
wiley +1 more source