Results 81 to 90 of about 39,351 (290)

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

Molecular Autism, 2017
Background Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes.
Marc Woodbury-Smith, Eric Deneault, Ryan K. C. Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L. Howe, Ny Hoang, Mohammed Uddin, Christian R. Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W. Scherer   +13 more
doaj   +1 more source

Cortical Somatostatin Neurons Regulate Seizure Susceptibility via MINAR1/Gαs–cAMP Signaling

Advanced Science, EarlyView.
Our study identifies MINAR1 as a novel regulator of cortical interneuron excitability and seizure susceptibility. MINAR1 is preferentially expressed in SST+ interneurons. Genetic ablation of MINAR1 leads to seizure hypersensitivity, reduced SST+ neuron excitability, and impaired Gαs–cAMP signaling, disrupting the E/I balance.
Wei‐Tang Liu, Zhi‐Bin Hu, Ling Hu, Yu‐Bing Wang, Qiong Zhang, Ning‐Ning Song, Xi‐Yue Liu, Jia‐Yin Chen, Hong‐Wen Zhu, Bing‐Yao Zhou, Yun‐Chao Tao, Li Zhao, Ze‐Xuan Li, Yi‐Wei Li, Jia‐Qi Chen, Si‐Xin Tu, Cong‐Cong Qi, Sai‐Dan Ding, Gang Peng, Lin Xu, Yu‐Qiang Ding   +20 more
wiley   +1 more source

Transcriptomic signatures of neuronal differentiation and their association with risk genes for autism spectrum and related neuropsychiatric disorders. [PDF]

, 2016
Genes for autism spectrum disorders (ASDs) are also implicated in fragile X syndrome (FXS), intellectual disabilities (ID) or schizophrenia (SCZ), and converge on neuronal function and differentiation. The SH-SY5Y neuroblastoma cell line, the most widely
Chiocchetti, AG, Cocchi, E, de la Torre-Ubieta, L, Freitag, CM, Fulda, S, Geschwind, DH, Haslinger, D, Lindlar, S, Rothämel, T, Stein, JL, Waltes, R   +10 more
core   +1 more source

Persistently Increased Expression of PKMzeta and Unbiased Gene Expression Profiles Identify Hippocampal Molecular Traces of a Long‐Term Active Place Avoidance Memory and “Shadow” Proteins

Advanced Science, EarlyView.
Protein complexes like KIBRA‐PKMζ are crucial for maintaining memories, forming month‐long protein traces in memory‐tagged neurons, but conventional RNA‐seq analysis fails to detect their transcript changes, leaving memory molecules undetected in the shadows of abundantly‐expressed genes.
Jiyeon Han, Alejandro Grau‐Perales, Rayna M. Harris, Edith Lesburguères, Hsin‐Yi Kao, Asit Pal, Juan Marcos Alarcon, Todd C. Sacktor, Stefano Martiniani, Hans A. Hofmann, André A. Fenton   +10 more
wiley   +1 more source

Reduced hippocampal inhibition and enhanced autism-epilepsy comorbidity in mice lacking neuropilin 2

Translational Psychiatry, 2021
The neuropilin receptors and their secreted semaphorin ligands play key roles in brain circuit development by regulating numerous crucial neuronal processes, including the maturation of synapses and migration of GABAergic interneurons.
Carol Eisenberg, Deepak Subramanian, Milad Afrasiabi, Patryk Ziobro, Jack DeLucia, Pamela R. Hirschberg, Michael W. Shiflett, Vijayalakshmi Santhakumar, Tracy S. Tran   +8 more
doaj   +1 more source

Amygdala and Hippocampal Contributions to Broad Autism Phenotype: Project Ice Storm

, 2023
Prenatal maternal stress (PNMS) increases the risk for autism, and individuals with autism inconsistently exhibit increased or decreased volumes and functional connectivity of the whole amygdala and the whole hippocampus. Given heterogeneous structures of the amygdala and hippocampus and the heterogeneity of autism symptoms, it is worth examining how ...
Suzanne King, Xinyuan Li, Muhammad Qureshi, David Laplante, Guillaume Elgbeili, Sherri Jones, Pedro Rosa-Neto   +6 more
openaire   +1 more source

In Vivo CRISPR Screening Identifies the Glutamate Receptor GRIA2 as Promoting Peritoneal Metastasis of Gastric Cancer via Calcium‐Dependent β‐Catenin Activation

Advanced Science, EarlyView.
We identified GRIA2 as a critical driver of gastric cancer peritoneal metastasis through in vivo CRISPR screening. Mechanistically, GRIA2‐mediated calcium influx inhibits GSK3β and activates Wnt/β‐catenin signaling, driven by glutamate from cancer‐associated fibroblasts.
Jie Sun, Xu Yang, Wenchao Jiang, Chengbo Ji, Yingying Wu, Haoyu Sun, Xinyou Liu, Masami Yamamoto, Tetsuya Tsukamoto, Sachiyo Nomura, Junjie Zhao, Yuanyuan Ruan, Haojie Li, Xuefei Wang   +13 more
wiley   +1 more source

Level of autistic traits in neurotypical adults predicts kinematic idiosyncrasies in their biological movements

Frontiers in Integrative Neuroscience
IntroductionOver the last decade of research, a notable connection between autism spectrum disorder (ASD) and unique motor system characteristics has been identified, which may influence social communication through distinct movement patterns.
Gregory F. Lewis, Elizabeth B. daSilva, Mohammad Aghajani, Surabhi Date, Mark Jaime   +4 more
doaj   +1 more source

Toward the language oscillogenome [PDF]

, 2018
Language has been argued to arise, both ontogenetically and phylogenetically, from specific patterns of brain wiring. We argue that it can further be shown that core features of language processing emerge from particular phasal and cross-frequency ...
Benítez Burraco, Antonio, Murphy, Elliot   +1 more
core   +2 more sources

A Murine Database of Structural Variants Identifies A Candidate Gene for a Spontaneous Murine Lymphoma Model

Advanced Science, EarlyView.
We analyzed long‐read genomic sequencing data obtained from 40 inbred mouse strains to produce a large database of structural variants. This dataset captures the major types of structural variants, which includes deletions, insertions, duplications, and inversions.
Wenlong Ren, Zhuoqing Fang, Egor Dolzhenko, Christopher T. Saunders, Zhuanfen Cheng, Victoria Popic, Gary Peltz   +6 more
wiley   +1 more source