Results 101 to 110 of about 7,269 (167)
Abstract Background In horses, cats and dogs, the opioid butorphanol has been proven effective in management of visceral pain and for peri‐ and postoperative pain relief. The aim of this study was to evaluate physiological responses and indicators of noxious stimuli when adding butorphanol to xylazine for sedation of bull calves during surgical ...
Axel Sannö +3 more
wiley +1 more source
Objective To explore the clinical characteristics of patients with dizziness/vertigo who showed a dissociation between the results of the caloric test and video head impulse test (vHIT). Methods A total of 327 patients who complained of dizziness/vertigo
Xiang Li MD +7 more
doaj +1 more source
SIRT1, an NAD+‐dependent deacetylase, supports cognitive resilience by coordinating neuroprotection, synaptic plasticity, autophagy–lysosomal proteostasis, and mitochondrial energy homeostasis. Reduced or dysregulated SIRT1 is associated with protein aggregation, neuroinflammation, mitochondrial dysfunction, synaptic loss, and cognitive decline in ...
Jiabin Duan +6 more
wiley +1 more source
A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy. [PDF]
Penkava J +7 more
europepmc +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
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos +46 more
wiley +1 more source
ABSTRACT Coffin–Siris syndrome (CSS) (OMIM:614608) is a rare genetic disorder characterized by global developmental delay (GDD), speech impediment, coarse facial features, and hypoplastic or absent fifth fingernails/toenails. Genetic variants in the SMARCB1 gene are associated with CSS, benign tumors (schwannomas), and rhabdoid tumor predisposition ...
Aparna Bhanushali +6 more
wiley +1 more source
Abstract Microcytic anemia is among the most common hematological abnormalities in clinical practice and is usually attributable to iron deficiency, thalassemia traits, or anemia of inflammation. A small but clinically important subset of patients, however, has inherited disorders of iron metabolism or heme synthesis presenting with persistent ...
Alexandros Makis +2 more
wiley +1 more source
Strategies and mechanisms of precision genome engineering: From gene editing to genome writing
In this review, we examined the progression of genome manipulation from stochastic nuclease‐mediated cutting toward precise editing and programmable genome writing. We discussed tools like multi‐kilobase RNA‐guided integrators and Artificial Intelligence (AI)‐designed effectors and showed how these advances enable researchers to treat genomes as ...
Kerui Huang +19 more
wiley +1 more source

