Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance
Aging and Cancer, EarlyView.NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang +3 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Spinal cord infarction (SCI) is a rare but devastating myelopathy, characterized by a high disability rate and an unfavorable prognosis. It has often been underdiagnosed and misdiagnosed as idiopathic transverse myelitis (ITM). This study aimed to describe the clinical features, radiological biomarkers, treatments, and functional ...
Zeqiang Ji +13 more
wiley +1 more source
Impact of <i>in vitro</i> digestion on the bioaccessibility, genotoxicity and mutagenicity of mycotoxins in a complex <i>Alternaria</i> extract. [PDF]
Food Chem XCall F, Crudo F, Marko D.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Accessing brain magnetic resonance imaging (MRI) can be challenging, especially for underserved patients, which may lead to disparities in neurological diagnosis. Method This mixed‐methods study enrolled adults with one of four neurological disorders: mild cognitive impairment or dementia of the Alzheimer type, multiple sclerosis ...
Maya L. Mastick +19 more
wiley +1 more source
The Use of Memes to Evaluate Reflection Levels in an Evidence-Based Practice Course for Nutrition Graduate Students: A Cross-Sectional Observational Study. [PDF]
Adv Med Educ PractDouglas CC +3 more
europepmc +1 more source
Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
Evaluation of the Applicability of a 3D-Printed Inert Minitablet Core as a Carrier for Modified-Release Drug Delivery System. [PDF]
PharmaceuticsBarna ÁT +8 more
europepmc +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
ENHANCE: a community partnership charting the evolution of early-life cystic fibrosis disease manifestations in a new era of management. [PDF]
ERJ Open ResUrquhart DS +19 more
europepmc +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source