Results 131 to 140 of about 402,508 (250)

Role of SoxE transcription factors in development and disease

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard   +3 more
wiley   +1 more source

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick   +3 more
wiley   +1 more source

Zebrafish ventral gastrula fate map reveals neural crest progenitor domain

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Fate maps relate progenitor cell positions to later fates and locations of their progeny, revealing early embryonic organization. Previous zebrafish fate maps identified the origin of germ layers and derivative cell fates, but ventral gastrula progenitor domains were not fully resolved. In particular, the neural crest, a multipotent
Elaine E. Kushkowski, Victoria E. Prince
wiley   +1 more source

Absence seizures: Update on signaling mechanisms and networks

open access: yesEpilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Shared molecular pathways in pediatric genetic epilepsies: Insights from a single‐center cohort of 80 patients

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functional pathways.
Laura Hecher   +11 more
wiley   +1 more source

Engineering mRNA‐LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases

open access: yesExploration, EarlyView.
This review highlights recent advances in engineering messenger RNA (mRNA)‐lipid nanoparticles (LNPs) to cross the ageing blood–brain barrier and target neurodegenerative diseases. It outlines design principles, delivery routes, and translational challenges, charting a roadmap towards clinical application of mRNA‐LNP therapeutics for neurodegenerative ...
Abdel Ali Belaidi   +5 more
wiley   +1 more source

Progress in the Role of Mast Cells and Biomolecular Signals in the Mechanism of Postoperative Ileus: From Cellular Activation to Exploration of the Brain–Gut Axis

open access: yesGut Medicine, EarlyView.
ABSTRACT Postoperative ileus (POI) is a frequent complication after surgical procedures, predominantly manifesting as aberrant gastrointestinal motility, which markedly extends the duration of postoperative recovery for patients. The clinical duration of POI is typically modulated by intricate inflammatory cascades, with mast cells assuming a critical ...
Tian‐le Zhang   +4 more
wiley   +1 more source

Spinal afferent innervation from the left dorsal root ganglia in flat-mounts of whole ventricles of rats: Anterograde tracing. [PDF]

open access: yesAuton Neurosci
Ma J   +9 more
europepmc   +1 more source

Anti‐NMDA receptor autoimmune encephalitis associated with ovarian teratoma: A case series and literature review

open access: yesInternational Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 23-30, April 2025.
Abstract Autoimmune encephalitis is a group of disorders characterized by symptoms of dysfunction of the limbic and extra‐limbic systems that occur in association with antibodies against intracellular antigens, synapses, or proteins located on the surface of nerve cells. Anti‐NMDA (N‐methyl‐D‐aspartate) receptor encephalitis was first described in 2007
Pham Ba Nha   +6 more
wiley   +1 more source

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