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Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei +4 more
wiley +1 more source

Magnetoelectric Nanoparticles Enable Modulation of Cortical Networks by Low‐Intensity Static Magnetic Fields In Vitro

Advanced Science, EarlyView.
Neuromodulation strategies are increasingly needed to stimulate, restore, or replace altered neuronal activity in disease. Cobalt ferrite‐barium titanate (CFO–BTO) magnetoelectric nanoparticles convert low‐intensity static magnetic fields into local electrical modulation of cortical networks.
Nathalia Cancino‐Fuentes +13 more
wiley +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell +16 more
wiley +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri +5 more
wiley +1 more source

Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome

Annals of Neurology, EarlyView.
Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca +24 more
wiley +1 more source

Timing of Deep Brain Stimulation and Cognitive Trajectories in GBA1‐Associated Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Individuals with Parkinson's disease (PD) carrying GBA1 variants often develop advanced motor complications that prompt evaluation for deep brain stimulation (DBS). However, concerns about accelerated cognitive decline after DBS in GBA1 carriers complicate clinical decision making.
Evridiki Asimakidou +61 more
wiley +1 more source

Knock‐knock, who is inside? Exploiting citizen science data to shed light on Aedes albopictus indoor presence in southern Europe

People and Nature, EarlyView.
Abstract Animal behaviour in human‐dominated landscapes is difficult to study at large spatial and temporal scales, especially for small species characterised by elusive movements. Citizen science can help overcome these limitations by turning routine human–animal encounters into observations of where and when species are active.
Eleonora Longo +17 more
wiley +1 more source

Soil health assessment using buried cotton underpants with the help of 1000 citizen scientists

PLANTS, PEOPLE, PLANET, EarlyView.
Soil is a vital resource for life on Earth. Although many soils are degraded, societal awareness of soil‐related issues is limited. To highlight soil as a key resource and fascinating study system, we initiated a citizen science project together with 1000 participants investigating soil health across Switzerland using buried cotton underpants.
S. Franz Bender +258 more
wiley +1 more source

An Introduction to the Rock Art of Khaybar

Arabian Archaeology and Epigraphy, EarlyView.
ABSTRACT Between 2020 and 2024, the Khaybar Longue Durée Archaeological Project recorded 2333 rock art panels around the oasis of Khaybar in northwest Arabia. This dataset documents changing visual expression in a previously under‐researched region. The rock art broadly follows chronological and stylistic patterns observed elsewhere in northern Arabia.
Maria Guagnin +4 more
wiley +1 more source