Results 141 to 150 of about 80,377 (269)
ABSTRACT Juvenile xanthogranuloma (JXG) of the central nervous system (CNS) is a rare non‐Langerhans cell histiocytosis. CSF1R mutations have been reported for peripheral JXG, but not in CNS JXG. A 3‐month‐old male presented with fever, lymphadenopathy, and macrocephaly with bulging fontanelles.
Sima Vazquez +8 more
wiley +1 more source
Choroid plexus in lateral recess
Choroid plexus in lateral recess. Mid medulla. Transverse plane.
core
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao +5 more
wiley +1 more source
Identification of Sodium/Myo‐Inositol Transporter 1 as a Major Determinant of Arterial Contractility
The tonicity‐responsive enhancer binding‐protein (TonEBP) and serum glucocorticoid kinase (SGK) sense a rise in extracellular hypertonicity resulting in an increase SMIT1 membrane abundance in vascular smooth muscle cells. SMIT1 associates with Kv7.4/5, Gβγ, and KCNE4, promoting hyperpolarization, reduced voltage‐gated calcium channel (VGCC) opening ...
Elizabeth A. Forrester +6 more
wiley +1 more source
Long‐term hippocampal alterations and cognitive impairment in a murine model of surgical sepsis
Using a mouse model of surgical sepsis, we tested long‐term memory and analyzed the transcriptome of single cells isolated from the hippocampus. Survivor mice showed worse memory, loss of certain brain cell subpopulations, and abnormal immune cell activity—suggesting that post‐sepsis brain alterations may be linked to cognitive deficits.
Dong Seong Cho +4 more
wiley +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao +7 more
wiley +1 more source
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Diagnostic Challenges in Choroid Plexus Tumours. [PDF]
Thomas C, Hasselblatt M.
europepmc +1 more source
Abstract INTRODUCTION Common Alzheimer's disease (AD) mouse models are widely used, but their molecular correspondence with human AD remains uncertain. METHODS We analyzed 15 post mortem human brain datasets, four human non‐brain or in vitro sensitivity datasets, and nine AD‐related mouse‐model molecular‐profiling datasets; GSE222494 was analyzed ...
Linsong Chai +5 more
wiley +1 more source

