Results 61 to 70 of about 39,351 (290)

De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder

, 2019
POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder.
Au, C., Baker, S., Bergstrom, K., Bodek, S., Brunner, H., Cunniff, C., Dentici, M., Derizioti, P., Faivre, L., Firth, H., Fisher, S., Gilissen, C., Iglesias, A., Izumi, K., Kleefstra, T., Kroes, H., Lachmeijer, A., Leonard, J., Maas, S., Matsumoto, N., Miyake, N., Niceta, M., Okamoto, N., Pfundt, R., Philippe, C., Powis, Z., Shinde, D., Snijders Blok, L., Tang, S., Tartaglia, M., Tayoun, A., Tomkins, S., Van Gassen, K., Venselaar, H., Vitobello, A., Wiel, L., Wojcik, M., Õunap, K.   +37 more
core   +1 more source

Common variation near ROBO2 is associated with expressive vocabulary in infancy [PDF]

, 2014
Twin studies suggest that expressive vocabulary at ~24 months is modestly heritable. However, the genes influencing this early linguistic phenotype are unknown. Here we conduct a genome-wide screen and follow-up study of expressive vocabulary in toddlers
Ang, Qi W., Cents, Rolieke A. M., Dale, Philip S., Davis, Oliver S. P., Evans, David M., Golding, Jean, Haworth, Claire M. A., Hofman, A., Jaddoe, Vincent Wilfred Vishal-Kapoor, Jarvelin, Marjo-Riitta, Kemp, John P., Meaburn, Emma L., Miller, Laura, O’Reilly, Paul F., Pennell, Craig E., Pillas, Demetris, Plomin, Robert, Price, Tom S., Ring, Susan M., Rivadeneira, Fernando, Rodriguez, Alina, Roulstone, Susan, Smith, George Davey, St Pourcain, Beate, Tiemeier, Henning, Timpson, Nicholas J., Velders, F. P., Verhulst, F. C., Warrington, Nicole M., Whitehouse, Andrew J. O., Wren, Yvonne, Yliherva, Anneli   +31 more
core   +10 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Autism genetics: searching for specificity and convergence. [PDF]

, 2012
Advances in genetics and genomics have improved our understanding of autism spectrum disorders. As many genes have been implicated, we look to points of convergence among these genes across biological systems to better understand and treat these ...
Berg, Jamee M, Geschwind, Daniel H
core   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
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, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Different Aspects of Emotional Awareness in Relation to Motor Cognition and Autism Traits

Frontiers in Psychology, 2019
Emotion is inherently embodied, formulated through bodily sensation, as well as expressed and regulated through action. Both expressing one’s own emotions and understanding the emotional actions of others are common areas of difficulty in autism ...
Charlotte F. Huggins, Isobel M. Cameron, Justin H. G. Williams   +2 more
doaj   +1 more source

The autism spectrum as a source of cognitive and cultural diversity [PDF]

, 2011
Individual differences in perception and in social cognition are products of both biology and cultural experience. Many of the same differences that typify autism when they occur in extremes also underlie normal human cognitive variation when they occur ...
Belmonte, MK
core  

Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience

Advanced Healthcare Materials, EarlyView.
Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram, Vanessa Arnold, Maik Wolfram‐Schauerte, Anastassiya Moskalchuk, Caroline Trust, Marie Vontz, Mona Scheurenbrand, Vijayasarathy Sampath‐Kumar, Sogand Ahari, Carlos Romero‐Nieto, Lisa Sevenich   +10 more
wiley   +1 more source

The role of single nucleotide polymorphisms within genes for oxytocin and vasopressin receptors in the presentation and severity of autistic traits

European Psychiatry, 2023
Introduction Autism spectrum disorder is a heterogeneous group of disorders that affects virtually every population, regardless of their ethnic or socioeconomic origin.
K. M. Wilczyński, A. Auguściak-Duma, A. Stasik, L. Cichoń, A. Sieroń, M. Janas-Kozik   +5 more
doaj   +1 more source

Remimazolam Ameliorates Autistic‐Like Behaviors via Suppression of Ferroptosis in VTA Dopaminergic Neurons in a Mouse Model of ASD

Advanced Science, EarlyView.
The ultra‐short‐acting sedative remimazolam has a sustained therapeutic effect on the core symptoms of VPA‐exposed mice. Remimazolam, a GABA agonist, exerts its therapeutic effects by protecting dopamine neurons in the VTA of VPA‐exposed mice. Meanwhile, ferroptosis is the critical mechanism by which remimazolam protects VTA dopaminergic neurons and ...
Yuxin Zhang, Jianwei Lin, Chaoyang Tong, Xin Fu, Mengqin Shan, Yue Huang, Kan Zhang, Jijian Zheng   +7 more
wiley   +1 more source