Results 201 to 210 of about 924,610 (305)

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun   +7 more
wiley   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

Created Ex Nihilo: A Near‐Infrared Afterglow Luminescent Framework of Imidazole Derivatives for Bioimaging

open access: yesAngewandte Chemie, EarlyView.
A series of Ir(III) complexes (Ir‐1‐Ir‐4) based on imidazole derivatives provide a new afterglow luminescence mechanism. The work expands the range of afterglow luminescence frameworks to overcome: (i) a lack of new afterglow scaffolds; (ii) the dependence on initial external light activation; and (iii) aggregation‐caused quenching.
Zihan Wu   +9 more
wiley   +2 more sources

Neuroprotection after transient middle cerebral artery occlusion in male rats using kojic acid nanostructured lipid carriers: A behavioral, biochemical, and histological study on hippocampal CA1 region

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study demonstrates that kojic acid–loaded nanostructured lipid carriers (KA‐NLC) provide significant neuroprotection in a male rat model of middle cerebral artery occlusion (MCAO)–induced stroke. Treatment with KA‐NLCs reduced cerebral edema, improved motor and coordination balance and neurological scores, and enhanced spatial and avoidance memory.
Mobina Gheibi   +11 more
wiley   +1 more source

Blood Biomarkers of Alzheimer's Disease and Patterns of Structural Brain Changes in the Community

open access: yesAnnals of Neurology, EarlyView.
Objective We aimed to investigate the associations between Alzheimer's disease (AD)‐related blood biomarkers and changes in brain volumes and cerebrovascular burden in community‐dwelling older adults. Methods We included 361 dementia‐free participants with a Mini‐Mental State Examination (MMSE) score ≥ 27 and without prior cerebrovascular events from a
Martina Valletta   +11 more
wiley   +1 more source

Research Progress on the Multitarget Mechanisms of Terpenoids in the Treatment of Ischemic Stroke. [PDF]

open access: yesStroke Res Treat
Yang J   +11 more
europepmc   +1 more source

Neutrophil Extracellular Traps Block Fibrinolysis in Ischemic Stroke

open access: yesAnnals of Neurology, EarlyView.
Objectives Intravenous thrombolysis (IVT) failure in acute ischemic stroke (AIS) is frequent, but its causes remain elusive. We investigated whether biologically relevant intrathrombus concentrations of tissue plasminogen activator (tPA) were achieved in failed IVT and whether neutrophil extracellular traps (NETs) contributed to this therapeutic ...
Mialitiana Solo Nomenjanahary   +21 more
wiley   +1 more source

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