Case report: A novel frameshift mutation in BRSK2 causes autism in a 16-year old Chinese boy

Hu, Yu; Li, Miao; Shen, Yanmei; Wang, Tianyun; Liu, Qiwei; Lu, Zhonghua; Wang, Hong; Luo, Xuerong; Yang, Lixin

doi:10.3389/fpsyt.2023.1205204

Cited by 1 publication

(1 citation statement)

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“…Genetic factors play a pivotal role in ASD pathogenesis. ASD is often associated with mutations or variations in multiple genes, and researchers are diligently working to identify these genes and understand how they affect ASD Signaling Pathways and neurodevelopment ( 71 , 72 ). Genetic research contributes to a deeper comprehension of the genetic basis of ASD.…”

Section: Discussionmentioning

confidence: 99%

A bibliometric analysis of autism spectrum disorder signaling pathways research in the past decade

Lyu,

Li,

Chen

et al. 2024

Front. Psychiatry

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BackgroundThis study employs bibliometric methods to comprehensively understand the fundamental structure of research about Autism Spectrum Disorder (ASD) Signaling Pathways by examining key indicators such as nations, institutions, journals, authors, and keywords.MethodologyWe utilized the WoScc database to retrieve literature relevant to ASD Signaling Pathways published between 2013 and 2023. Through visual analysis and tools like CiteSpace and VosViewer, we explored nations, institutions, journals, authors, and keywords, thereby constructing relevant networks.Results26 The study encompasses 1,396 articles, revealing a consistent increase in publications. The United States, China, and Germany are leading nations in this literature. Regarding research institutions, the University of California system and Eric Klann have garnered significant attention due to their substantial contributions to the field of ASD Signaling Pathways. Most relevant research is published in the journal “Molecular Autism.” Research interests are concentrated across various themes, including “elevating neuronal β-catenin levels,” “Tunisian children,” “Fmr1 knockout (KO) mice,” “de novo mutations,” “autistic children,” “local translation,” “propionic acid-induced mouse models,” “neurosystems,” “glucose metabolism,” and “neuronal migration.” Future research may emphasize exploring aspects such as gut microbiota, genes, stress, maternal immune activation, memory, and neurodevelopmental disorders of ASD.ConclusionThis study, through bibliometric analysis of key indicators such as nations, institutions, journals, authors, and keywords, provides a comprehensive overview of the current state of research on ASD Signaling Pathways. These investigations predominantly focus on molecular mechanisms, animal model studies, population-based research, and the structure and function of neurosystems. Future research directions are also clearly proposed. First, in-depth research on the genes and neurodevelopmental disorders associated with ASD will continue to reveal the genetic basis and provide support for precise treatments. At the same time, attention to the gut microbiota will help explore its association with ASD, which may provide clues for new treatments. In addition, the relationship between stress and ASD will become the focus of research to understand better the emotional and behavioral characteristics of ASD patients in stressful situations. Maternal immune activation will also be further studied to explore how environmental factors influence the risk and development of ASD. Finally, a deeper understanding of the cognitive functions of patients with ASD, especially memory and learning, will help develop individualized treatment strategies to improve patients’ quality of life. These directions will work together and are expected to provide a more comprehensive understanding of Signaling Pathways research in ASD and provide new ideas and opportunities for future intervention and treatment.

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Section: Discussionmentioning

confidence: 99%