keyword
https://read.qxmd.com/read/38492568/sound-elicits-stereotyped-facial-movements-that-provide-a-sensitive-index-of-hearing-abilities-in-mice
#1
JOURNAL ARTICLE
Kameron K Clayton, Kamryn S Stecyk, Anna A Guo, Anna R Chambers, Ke Chen, Kenneth E Hancock, Daniel B Polley
Sound elicits rapid movements of muscles in the face, ears, and eyes that protect the body from injury and trigger brain-wide internal state changes. Here, we performed quantitative facial videography from mice resting atop a piezoelectric force plate and observed that broadband sounds elicited rapid and stereotyped facial twitches. Facial motion energy (FME) adjacent to the whisker array was 30 dB more sensitive than the acoustic startle reflex and offered greater inter-trial and inter-animal reliability than sound-evoked pupil dilations or movement of other facial and body regions...
March 6, 2024: Current Biology: CB
https://read.qxmd.com/read/38490949/deficits-in-olfactory-system-neurogenesis-in-neurodevelopmental-disorders
#2
REVIEW
Sean C Sweat, Claire E J Cheetham
The role of neurogenesis in neurodevelopmental disorders (NDDs) merits much attention. The complex process by which stem cells produce daughter cells that in turn differentiate into neurons, migrate various distances, and form synaptic connections that are then refined by neuronal activity or experience is integral to the development of the nervous system. Given the continued postnatal neurogenesis that occurs in the mammalian olfactory system, it provides an ideal model for understanding how disruptions in distinct stages of neurogenesis contribute to the pathophysiology of various NDDs...
April 2024: Genesis: the Journal of Genetics and Development
https://read.qxmd.com/read/38487272/neural-conditional-ablation-of-the-protein-tyrosine-phosphatase-receptor-delta-ptprd-impairs-gliogenesis-in-the-developing-mouse-brain-cortex
#3
JOURNAL ARTICLE
Francisca Cornejo, Nayhara Franchini, Bastián I Cortés, Daniela Elgueta, Gonzalo I Cancino
Neurodevelopmental disorders are characterized by alterations in the development of the cerebral cortex, including aberrant changes in the number and function of neural cells. Although neurogenesis is one of the most studied cellular processes in these pathologies, little evidence is known about glial development. Genetic association studies have identified several genes associated with neurodevelopmental disorders. Indeed, variations in the PTPRD gene have been associated with numerous brain disorders, including autism spectrum disorder, restless leg syndrome, and schizophrenia...
2024: Frontiers in Cell and Developmental Biology
https://read.qxmd.com/read/38483902/impaired-oxysterol-liver-x-receptor-signaling-underlies-aberrant-cortical-neurogenesis-in-a-stem-cell-model-of-neurodevelopmental-disorder
#4
JOURNAL ARTICLE
Daniel Cabezas De La Fuente, Claudia Tamburini, Emily Stonelake, Robert Andrews, Jeremy Hall, Michael J Owen, David E J Linden, Andrew Pocklington, Meng Li
The mechanisms by which genomic risks contribute to the onset of neuropsychiatric conditions remain a key challenge and a prerequisite for successful development of effective therapies. 15q11.2 copy number variation (CNV) containing the CYFIP1 gene is associated with autism and schizophrenia. Using stem cell models, we show that 15q11.2 deletion (15q11.2del) and CYFIP1 loss of function (CYFIP1-LoF) lead to premature neuronal differentiation, while CYFIP1 gain of function (CYFIP1-GoF) favors neural progenitor maintenance...
March 13, 2024: Cell Reports
https://read.qxmd.com/read/38475840/differential-contribution-of-canonical-and-noncanonical-nlgn3-pathways-to-early-social-development-and-memory-performance
#5
JOURNAL ARTICLE
Lin-Yu Li, Ayako Imai, Hironori Izumi, Ran Inoue, Yumie Koshidaka, Keizo Takao, Hisashi Mori, Tomoyuki Yoshida
Neuroligin (NLGN) 3 is a postsynaptic cell adhesion protein organizing synapse formation through two different types of transsynaptic interactions, canonical interaction with neurexins (NRXNs) and a recently identified noncanonical interaction with protein tyrosine phosphatase (PTP) δ. Although, NLGN3 gene is known as a risk gene for neurodevelopmental disorders such as autism spectrum disorder (ASD) and intellectual disability (ID), the pathogenic contribution of the canonical NLGN3-NRXN and noncanonical NLGN3-PTPδ pathways to these disorders remains elusive...
March 12, 2024: Molecular Brain
https://read.qxmd.com/read/38474035/exploratory-analysis-of-microrna-alterations-in-a-neurodevelopmental-mouse-model-for-autism-spectrum-disorder-and-schizophrenia
#6
JOURNAL ARTICLE
Susana García-Cerro, Ana Gómez-Garrido, Gonçalo Garcia, Benedicto Crespo-Facorro, Dora Brites
MicroRNAs (miRNAs) play a crucial role in the regulation of gene expression levels and have been implicated in the pathogenesis of autism spectrum disorder (ASD) and schizophrenia (SCZ). In this study, we examined the adult expression profiles of specific miRNAs in the prefrontal cortex (PFC) of a neurodevelopmental mouse model for ASD and SCZ that mimics perinatal pathology, such as NMDA receptor hypofunction, and exhibits behavioral and neurophysiological phenotypes related to these disorders during adulthood...
February 28, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38467738/expanding-the-genetic-and-phenotypic-spectrum-of-trappc9-and-mid2-related-neurodevelopmental-disabilities-report-of-two-novel-mutations-3d-modelling-and-molecular-docking-studies
#7
JOURNAL ARTICLE
Marwa Kharrat, Chahnez Triki, Abir Ben Isaa, Wafa Bouchaala, Olfa Alila, Jihen Chouchen, Yosra Ghouliya, Fatma Kamoun, Abdelaziz Tlili, Faiza Fakhfakh
Intellectual disabilities (ID) and autism spectrum disorders (ASD) have a variety of etiologies, including environmental and genetic factors. Our study reports a psychiatric clinical investigation and a molecular analysis using whole exome sequencing (WES) of two siblings with ID and ASD from a consanguineous family. Bioinformatic prediction and molecular docking analysis were also carried out. The two patients were diagnosed with profound intellectual disability, brain malformations such as cortical atrophy, acquired microcephaly, and autism level III...
March 11, 2024: Journal of Human Genetics
https://read.qxmd.com/read/38461670/-environmental-standard-limit-concentration-arsenic-exposure-is-associated-with-anxiety-depression-and-autism-like-changes-in-early-life-stage-zebrafish
#8
JOURNAL ARTICLE
Yuanhui Zhu, Qianlei Yang, Jie Gu, Zhicheng Chen, Nan Jing, Tingxu Jin, Jiayuan Lin, Xin Wang, Jingwen Hu, Guixiang Ji, Yan An
Arsenic is a worldwide environmental pollutant that can impair human health. Previous studies have identified mental disorders induced by arsenic, but the environmental exposure concentrations in the early life stages associated with these disorders are poorly understood. In the present study, early-life stage zebrafish were used to explore the effects on mental disorders under 'environmental standard limit concentrations' arsenic exposures of 5, 10, 50, 150, and 500 μg/L. The results showed that arsenic exposure at these concentrations changed the locomotor behavior in larval zebrafish and was further associated with anxiety, depression, and autism-like behavior in both larval and juvenile zebrafish...
March 5, 2024: Journal of Hazardous Materials
https://read.qxmd.com/read/38459140/loss-of-function-variant-in-spermidine-spermine-n1-acetyl-transferase-like-1-satl1-gene-as-an-underlying-cause-of-autism-spectrum-disorder
#9
JOURNAL ARTICLE
Abdulfatah M Alayoubi, Muhammad Iqbal, Hassan Aman, Jamil A Hashmi, Laila Alayadhi, Khalid Al-Regaiey, Sulman Basit
Autism spectrum disorder (ASD) is a complicated, lifelong neurodevelopmental disorder affecting verbal and non-verbal communication and social interactions. ASD signs and symptoms appear early in development before the age of 3 years. It is unlikely for a person to acquire autism after a period of normal development. However, we encountered an 8-year-old child who developed ASD later in life although his developmental milestones were normal at the beginning of life. Sequencing the complete coding part of the genome identified a hemizygous nonsense mutation (NM_001367857...
March 8, 2024: Scientific Reports
https://read.qxmd.com/read/38451970/de-novo-copy-number-variations-in-candidate-genomic-regions-in-patients-of-severe-autism-spectrum-disorder-in-vietnam
#10
JOURNAL ARTICLE
Hoa Thi Phuong Bui, Duong Huy Do, Ha Thi Thanh Ly, Kien Trung Tran, Huong Thi Thanh Le, Kien Trung Nguyen, Linh Thi Dieu Pham, Hau Duc Le, Vinh Sy Le, Arijit Mukhopadhyay, Liem Thanh Nguyen
Autism spectrum disorder (ASD) is a developmental disorder with a prevalence of around 1% children worldwide and characterized by patient behaviour (communication, social interaction, and personal development). Data on the efficacy of diagnostic tests using copy number variations (CNVs) in candidate genes in ASD is currently around 10% but it is overrepresented by patients of Caucasian background. We report here that the diagnostic success of de novo candidate CNVs in Vietnamese ASD patients is around 6%. We recruited one hundred trios (both parents and a child) where the child was clinically diagnosed with ASD while the parents were not affected...
2024: PloS One
https://read.qxmd.com/read/38448025/-analysis-of-a-child-featuring-global-developmental-delay-and-autism-due-to-variant-of-tbr1-gene-and-a-literature-review
#11
JOURNAL ARTICLE
Jinfeng Liu, Jia Zhang, Yajun Shen, Yang Li, Huan Luo, Jing Gan
OBJECTIVE: To explore the clinical characteristics and genetic basis for a child with global developmental delay and autism. METHODS: A child who had presented at West China Second University Hospital of Sichuan University on April 13, 2021 was selected as the study subject. Clinical manifestations, laboratory examination and result of genetic testing were analyzed. RESULTS: The main symptoms of the child had included cognitive, language and motor delay, autism and epilepsy...
March 10, 2024: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/38444325/evolutionary-trends-of-polygenic-scores-in-european-populations-from-the-paleolithic-to-modern-times
#12
JOURNAL ARTICLE
Davide Piffer, Emil O W Kirkegaard
This study examines the temporal and geographical evolution of polygenic scores (PGSs) across cognitive measures (Educational Attainment [EA], Intelligence Quotient [IQ]), Socioeconomic Status (SES), and psychiatric conditions (Autism Spectrum Disorder [ASD], schizophrenia [SCZ]) in various populations. Our findings indicate positive directional selection for EA, IQ, and SES traits over the past 12,000 years. Schizophrenia and autism, while similar, showed different temporal patterns, aligning with theories suggesting they are psychological opposites...
March 6, 2024: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://read.qxmd.com/read/38443186/ndnf-interneuron-excitability-is-spared-in-a-mouse-model-of-dravet-syndrome
#13
JOURNAL ARTICLE
Sophie Liebergall, Ethan M Goldberg
Dravet syndrome (DS) is a neurodevelopmental disorder characterized by epilepsy, developmental delay/intellectual disability, and features of autism spectrum disorder, caused by heterozygous loss-of-function variants in SCN1A encoding the voltage-gated sodium channel α subunit Nav1.1. The dominant model of DS pathogenesis is the "interneuron hypothesis," whereby GABAergic interneurons (INs) express and preferentially rely on Nav1.1-containing sodium channels for action potential generation. This has been shown for three of the major subclasses of cerebral cortex GABAergic INs: those expressing parvalbumin, somatostatin, and vasoactive intestinal peptide...
March 5, 2024: Journal of Neuroscience
https://read.qxmd.com/read/38443156/-nasp-gene-contributes-to-autism-by-epigenetic-dysregulation-of-neural-and-immune-pathways
#14
JOURNAL ARTICLE
Sipeng Zhang, Jie Yang, Dandan Ji, Xinyi Meng, Chonggui Zhu, Gang Zheng, Joseph Glessner, Hui-Qi Qu, Yuechen Cui, Yichuan Liu, Wei Wang, Xiumei Li, Hao Zhang, Zhanjie Xiu, Yan Sun, Ling Sun, Jie Li, Hakon Hakonarson, Jin Li, Qianghua Xia
BACKGROUND: Epigenetics makes substantial contribution to the aetiology of autism spectrum disorder (ASD) and may harbour a unique opportunity to prevent the development of ASD. We aimed to identify novel epigenetic genes involved in ASD aetiology. METHODS: Trio-based whole exome sequencing was conducted on ASD families. Genome editing technique was used to knock out the candidate causal gene in a relevant cell line. ATAC-seq, ChIP-seq and RNA-seq were performed to investigate the functional impact of knockout (KO) or mutation in the candidate gene...
March 5, 2024: Journal of Medical Genetics
https://read.qxmd.com/read/38441145/a-pathogenic-p4htm-gene-variant-in-two-brothers-with-autism-spectrum-disorder
#15
JOURNAL ARTICLE
Nur Seda Gülcü Üstün
Autism spectrum disorder is a neurodevelopmental condition that involves limitations in social communication and various stereotypical repetitive behaviors. Genetic and environmental factors both play a role in the etiology. Numerous genetic syndromes accompanying autism spectrum disorders have been reported. Hypoventilation, hypotonia, intellectual disability, epilepsy, eye abnormality (HIDEA) syndrome is a rare genetic condition consisting of a combination of features such as hypoventilation, hypotonia, intellectual disability, eye abnormalities, and epilepsy...
February 26, 2024: Psychiatric Genetics
https://read.qxmd.com/read/38439911/quantitative-proteomics-of-the-mir-301a-socs3-stat3-axis-reveals-underlying-autism-and-anxiety-like-behavior
#16
JOURNAL ARTICLE
Xun Li, Qi Fu, Mingtian Zhong, Yihao Long, Fengyun Zhao, Yanni Huang, Zizhu Zhang, Min Wen, Kaizhao Chen, Rongqing Chen, Xiaodong Ma
Autism is a widespread neurodevelopmental disorder. Although the research on autism spectrum disorders has been increasing in the past decade, there is still no specific answer to its mechanism of action and treatment. As a pro-inflammatory microRNA, miR-301a is abnormally expressed in various psychiatric diseases including autism. Here, we show that miR-301a deletion and inhibition exhibited two distinct abnormal behavioral phenotypes in mice. We observed that miR-301a deletion in mice impaired learning/memory, and enhanced anxiety...
March 12, 2024: Molecular Therapy. Nucleic Acids
https://read.qxmd.com/read/38438524/the-complex-etiology-of-autism-spectrum-disorder-due-to-missense-mutations-of-chd8
#17
JOURNAL ARTICLE
Taichi Shiraishi, Yuta Katayama, Masaaki Nishiyama, Hirotaka Shoji, Tsuyoshi Miyakawa, Taisuke Mizoo, Akinobu Matsumoto, Atsushi Hijikata, Tsuyoshi Shirai, Kouta Mayanagi, Keiichi I Nakayama
CHD8 is an ATP-dependent chromatin-remodeling factor encoded by the most frequently mutated gene in individuals with autism spectrum disorder (ASD). Although many studies have examined the consequences of CHD8 haploinsufficiency in cells and mice, few have focused on missense mutations, the most common type of CHD8 alteration in ASD patients. We here characterized CHD8 missense mutations in ASD patients according to six prediction scores and experimentally examined the effects of such mutations on the biochemical activities of CHD8, neural differentiation of embryonic stem cells, and mouse behavior...
March 5, 2024: Molecular Psychiatry
https://read.qxmd.com/read/38434094/clinical-characteristics-and-identification-of-novel-cnot1-variants-in-three-unrelated-chinese-families-with-vissers-bodmer-syndrome
#18
JOURNAL ARTICLE
Xiaojun Tang, Xiaoping Lan, Xiaozhen Song, Wuhen Xu, Yuanfeng Zhang, Simei Wang, Man Xiao, Yongchen Yang, Hong Zhang, Shengnan Wu
Vissers-Bodmer Syndrome, an autosomal dominant disease, is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, hypotonia and autistic features with a highly variable phenotype. It is caused by variants in the CCR4-NOT transcription complex, subunit 1 gene ( CNOT1 ). However, the pathophysiologic mechanism of the Vissers-Bodmer Syndrome remains unclear. Notably, this syndrome has not been previously reported in the Chinese. In this study, we utilized whole exome sequencing to identify three novel variants in the CNOT1 gene, encompassing one frameshift variant and two missense variants, in three Chinese patients mainly presenting with developmental delay, intellectual disability and/or autism...
February 29, 2024: Heliyon
https://read.qxmd.com/read/38433353/sensory-experiences-questionnaire-unravels-differences-in-sensory-profiles-between-mecp2-related-disorders
#19
JOURNAL ARTICLE
Bernhard Suter, Davut Pehlivan, Muharrem Ak, Holly K Harris, Ariel M Lyons-Warren
The methyl CpG-binding protein-2 (MECP2) gene is located on the Xq28 region. Loss of function mutations or increased copies of MECP2 result in Rett syndrome (RTT) and MECP2 duplication syndrome (MDS), respectively. Individuals with both disorders exhibit overlapping autism symptoms, yet few studies have dissected the differences between these gene dosage sensitive disorders. Further, research examining sensory processing patterns in persons with RTT and MDS is largely absent. Thus, the goal of this study was to analyze and compare sensory processing patterns in persons with RTT and MDS...
March 3, 2024: Autism Research: Official Journal of the International Society for Autism Research
https://read.qxmd.com/read/38431758/effects-of-gene-dosage-and-development-on-subcortical-nuclei-volumes-in-individuals-with-22q11-2-copy-number-variations
#20
JOURNAL ARTICLE
Charles H Schleifer, Kathleen P O'Hora, Hoki Fung, Jennifer Xu, Taylor-Ann Robinson, Angela S Wu, Leila Kushan-Wells, Amy Lin, Christopher R K Ching, Carrie E Bearden
The 22q11.2 locus contains genes critical for brain development. Reciprocal Copy Number Variations (CNVs) at this locus impact risk for neurodevelopmental and psychiatric disorders. Both 22q11.2 deletions (22qDel) and duplications (22qDup) are associated with autism, but 22qDel uniquely elevates schizophrenia risk. Understanding brain phenotypes associated with these highly penetrant CNVs can provide insights into genetic pathways underlying neuropsychiatric disorders. Human neuroimaging and animal models indicate subcortical brain alterations in 22qDel, yet little is known about developmental differences across specific nuclei between reciprocal 22q11...
March 2, 2024: Neuropsychopharmacology
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