Results 41 to 50 of about 36,446 (263)

Additional file 2: of Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilsonâ s disease: a case report

open access: yes, 2018
Table S1. Overview of previously reported pathogenic deletions of the ATP7B gene and use of the FoSTeS/MMBIR mechanism to explain their formations (DOCX 149 kb)
Liu, Gang   +9 more
openaire   +1 more source

Effects of Copper and/or Cholesterol Overload on Mitochondrial Function in a Rat Model of Incipient Neurodegeneration [PDF]

open access: yes, 2013
Copper (Cu) and cholesterol (Cho) are both associated with neurodegenerative illnesses in humans and animals models. We studied the effect in Wistar rats of oral supplementation with trace amounts of Cu (3 ppm) and/or Cho (2%) in drinking water for 2 ...
Arnal, Nathalie   +3 more
core   +1 more source

Construction of diagnostic prediction model for Wilson's disease

open access: yesFrontiers in Surgery, 2023
BackgroundWilson's disease, also known as hepatolenticular degeneration, is a rare human autosomal recessive inherited disorder of copper metabolism. The clinical manifestations are diverse, and the diagnosis and treatment are often delayed.
Yao Wang   +4 more
doaj   +1 more source

Hippo pathway at the crossroads of stemness and therapeutic resistance in breast cancer

open access: yesMolecular Oncology, EarlyView.
Dysregulation of the Hippo pathway drives nuclear accumulation of YAP/TAZ, activating stemness‐related transcriptional programs that sustain breast cancer stemness and fuel therapeutic resistance across subtypes, underscoring Hippo signaling as a targetable vulnerability. Figure created and edited with BioRender.com.
Giulia Schiavoni   +11 more
wiley   +1 more source

Wilson’s Disease: Diagnosis of Wilson’s Disease in Ethiopian Young Sisters

open access: yesCase Reports in Medicine, 2020
Background. Wilson’s disease is an inherited autosomal recessive disorder of copper metabolism. Clinical signs, biochemical parameters, histologic findings, and/or ATP7B genetic testing are required to diagnose Wilson’s disease. Case Presentation.
Nebiyu Bekele   +4 more
doaj   +1 more source

Differential expression of cancer‐related genes supports prediction of poor response to first‐line treatments in T‐ALL pediatric patients with high minimal residual disease

open access: yesMolecular Oncology, EarlyView.
In the present work, we have identified a transcriptional signature based on the differential expression of six genes (BCL2&MAST4, HSH2D&LAT2, METRN&PITPNM2) that would facilitate the early detection of T‐cell acute lymphoblastic leukemia (T‐ALL) patients prone to a poor treatment response and could be implemented at diagnosis, along with other risk ...
Antonio Lahera   +11 more
wiley   +1 more source

Impact of Asymptomatic Intracranial Hemorrhage on Outcome After Endovascular Stroke Treatment

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Endovascular treatment (EVT) achieves high rates of recanalization in acute large‐vessel occlusion (LVO) stroke, but functional recovery remains heterogeneous. While symptomatic intracranial hemorrhage (sICH) has been well studied, the prognostic impact of asymptomatic intracranial hemorrhage (aICH) after EVT is less certain ...
Shihai Yang   +22 more
wiley   +1 more source

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

open access: yesArthritis Care &Research, EarlyView.
Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo   +88 more
wiley   +1 more source

Autonomic Dysfunction in Wilson's Disease: A Comprehensive Evaluation during a 3-Year Follow Up

open access: yesFrontiers in Physiology, 2017
Objectives: Wilson's disease is reported to have autonomic dysfunction, but comprehensive evaluation of autonomic function is lacking. Additionally, little is known about the change of autonomic function of Wilson's disease during continuous therapy.
Kai Li   +8 more
doaj   +1 more source

Magnesium and other biometals in oxidative medicine and redox biology [PDF]

open access: yes, 2017
No abstract ...
Barbagallo, Mario   +3 more
core   +3 more sources

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