Phenotypic continuum of NFU1‐related disorders
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022 Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov +45 more
wiley +1 more source
Towards a Psychologically Realist, Culturally Responsive Approach to Engineering Ethics in Global Contexts. [PDF]
Sci Eng EthicsClancy RF +4 more
europepmc +1 more source
FEBS Open Bio, EarlyView.We introduce an immunohistochemistry method to measure autophagy flux, highlighting the active degradation and recycling of cellular waste. This cost‐effective approach uses tissue samples to track key markers like LC3 and SQSTM1, revealing how cells maintain health or respond to diseases such as cancer. It bridges the gap between research and clinical
Shahla Shojaei +6 more
wiley +1 more source
Clinical utility of cerebrospinal fluid biomarkers measured by LUMIPULSE® system
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1898-1909, December 2022., 2022 Abstract Objectives Cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) are well‐established in research settings, but their use in routine clinical practice remains a largely unexploited potential. Here, we examined the relationship between CSF biomarkers, measured by a fully automated immunoassay platform, and brain β‐amyloid (Aβ ...
Hisashi Nojima +9 more
wiley +1 more source
Investigation of ethics approval as part of a research integrity assessment of randomised controlled trials in COVID-19 evidence syntheses: a meta-epidemiological study. [PDF]
BMJ OpenWeber F +4 more
europepmc +1 more source
Economics and Ethics: A Treatise on Wealth and Life.
, 1924 E. F. Jacob, J. A. R. Marriott
openalex +2 more sources
The Science of Ethics, as Based on the Science of Knowledge.Johann Gottlieb Fichte [PDF]
, 1898 G. E. Moore
openalex +1 more source
Establishment and biological characterization of radioresistant colorectal cancer cell lines
FEBS Open Bio, EarlyView.Under ionizing radiation exposure, radiation‐sensitive cancer cells exhibit oxidative stress and DNA damage, while radiation‐resistant cancer cells exhibit strong antioxidant properties and DNA damage repair. Radiotherapy resistance is a major cause of recurrence and metastasis in colorectal cancer (CRC).
Tian‐Yin Qu +10 more
wiley +1 more source
Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022 Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han +5 more
wiley +1 more source