Article
Neurosciences
Sayaka Okuzono, Fumihiko Fujii, Yuki Matsushita, Daiki Setoyama, Yohei Shinmyo, Ryoji Taira, Kousuke Yonemoto, Satoshi Akamine, Yoshitomo Motomura, Masafumi Sanefuji, Takeshi Sakurai, Hiroshi Kawasaki, Kihoon Han, Takahiro A. Kato, Hiroyuki Torisu, Dongchon Kang, Yusaku Nakabeppu, Yasunari Sakai, Shouichi Ohga
Summary: Epileptic seizures are common comorbidities in children with autism spectrum disorder (ASD), but little is known about the genes involved and their role in regulating neuronal excitability. This study found that Shank3, an ASD-associated gene, plays a unique role in protecting thalamocortical neurons from hyperexcitability during the early postnatal period. These findings have important implications for understanding the mechanisms underlying seizures in children with autism.
NEUROSCIENCE RESEARCH
(2023)
Article
Cell Biology
Sehyoun Yoon, Marc Dos Santos, Marc P. Forrest, Christopher P. Pratt, Natalia Khalatyan, Peter J. Mohler, Jeffrey N. Savas, Peter Penzes
Summary: Rare genetic variants in the ANK2 gene are associated with neurodevelopmental disorders (NDDs), but their underlying mechanisms are not well understood. In this study, we found that mice with prenatal deletion of ANK2 in specific neurons showed severe seizures, increased mortality, hyperactivity, and social deficits. Calcium imaging and proteomic analysis revealed alterations in neuronal activity and synaptic proteins in these mice. Treatment with an AMPA receptor antagonist partially rescued the phenotypes. These findings suggest that ANK2 mutations disrupt synaptic proteome and impair neuronal activity, leading to NDD-related behavioral impairments.
Article
Psychiatry
Zehui Liu, Xiaolei Yang, Peiwen Guo, Feng Wang, Wei Xia, Yuxin Chen, Mingyang Zou, Caihong Sun
Summary: This study explored the relationship between genetic variants in KCNB1 and KCND2 genes and the risk of developing Autism Spectrum Disorder (ASD). The results suggest that KCND2 gene polymorphism is strongly associated with ASD susceptibility and severity of symptoms.
FRONTIERS IN PSYCHIATRY
(2023)
Review
Immunology
Shigeru Yokoyama
Summary: BST-1/CD157 is an immune/inflammatory regulator that acts as both an ectoenzyme and a cell-surface signaling receptor. It is expressed in peripheral tissues as well as the central nervous system (CNS). Clinical genetic studies have shown connections between BST-1/CD157 and neuropsychiatric disorders such as Parkinson's disease, autism spectrum disorders, sleep disorders, depressive disorders, and restless leg syndrome. This review summarizes the evidence for the involvement of BST-1/CD157 in these disorders.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Psychology, Developmental
Sophie Brunt, Rose Nevill, Micah O. Mazurek
Summary: Parents of children with autism spectrum disorder (ASD) often experience high levels of caregiver strain (CGS). This study examined the relationship between core ASD symptoms and different facets of CGS: objective, subjective internalized, and subjective externalized strain. The study found that atypical behaviors and behavior problems were the strongest predictors of all types of caregiver strain. The impact of these predictors on CGS was also found to be different for younger children versus adolescents. Future research should focus on strategies to support parents in reducing caregiver strain, as it affects their service utilization patterns.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Psychiatry
Yan Li, Chuanyong Sun, Yanbo Guo, Shuang Qiu, Yong Li, Yunkai Liu, Weijing Zhong, Hedi Wang, Yi Cheng, Yawen Liu
Summary: The polymorphisms of DIP2C gene are significantly associated with susceptibility and clinical phenotypes of autism spectrum disorder.
PSYCHIATRY RESEARCH
(2022)
Article
Medicine, General & Internal
Noor B. Almandil, Maram Adnan Alismail, Hind Saleh Alsuwat, Abdulla AlSulaiman, Sayed AbdulAzeez, J. Francis Borgio
Summary: This study identified the significant genes and single nucleotide polymorphisms (SNPs) associated with increased risk of autism spectrum disorder (ASD) in Saudi females. The findings provide insight for early diagnosis of ASD.
FRONTIERS IN MEDICINE
(2023)
Article
Multidisciplinary Sciences
Masud Rabbani, Munirul M. Haque, Dipranjan Das Dipal, Md Ishrak Islam Zarif, Anik Iqbal, Amy Schwichtenberg, Naveen Bansal, Tanjir Rashid Soron, Syed Ishtiaque Ahmed, Sheikh Iqbal Ahamed
Summary: This study aimed to evaluate the behavioral patterns of children with ASD during and after the COVID-19 lockdown, and found that support in the areas of problematic behavior could mitigate future risks.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Hosub Park, Hwangkyu Son, Hyebin Cha, Kihyuk Song, Seongsik Bang, Seungyun Jee, Hyunsung Kim, Jaekyung Myung, Su-Jin Shin, Chihwan Cha, Min Sung Chung, Seungsam Paik
Summary: This study found that low ASAP1 expression was associated with worse recurrence-free survival in invasive breast cancer, particularly in ER-positive cases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Chuanchuan Wang, Weixuan Chen, Yishan Jiang, Xiao Xiao, Qianhui Zou, Jiarui Liang, Yu Zhao, Qianxu Wang, Tian Yuan, Rui Guo, Xuebo Liu, Zhigang Liu
Summary: Autism Spectrum Disorder (ASD) symptoms may be improved through modulation of gut microbiota. This study investigated the effects of a synbiotic treatment on an ASD-like mouse model, and found that it rectified social impairments, attenuated inflammatory cytokine expressions, protected gut barrier integrity, and altered gut microbiota composition. The synbiotic treatment elevated beneficial metabolites and upregulated genes associated with their synthesis. Overall, the synbiotic combination mitigated ASD-related social impairments through regulation of the gut-brain axis.
Article
Biochemistry & Molecular Biology
Noriyoshi Usui, Xiaoye Tian, Wakana Harigai, Shogo Togawa, Ryo Utsunomiya, Tomomi Doi, Ko Miyoshi, Koh Shinoda, Junya Tanaka, Shoichi Shimada, Taiichi Katayama, Takeshi Yoshimura
Summary: Researchers found that the length of the axon initial segment (AIS) is abnormally changed in rodent models of attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). These findings suggest that impairments in AIS length may be a common feature of neurodevelopmental disorders and may be conserved across species.
NEUROCHEMISTRY INTERNATIONAL
(2022)
Editorial Material
Microbiology
Maude M. David
Summary: Autism spectrum disorder (ASD) is a complex disorder influenced by genetic and environmental factors. Studies have suggested a role of the gut microbiome in modulating ASD phenotype, but results remain inconsistent. Future research will require new experimental methodologies to better understand this relationship.
Article
Psychiatry
Jifeng Wang, Yuan Cao, Weiliang Hou, Dexi Bi, Fang Yin, Yaohui Gao, Dengfeng Huang, Yingying Li, Zhan Cao, Yinmei Yan, Jianhua Zhao, Dewu Kong, Xiaoqiong Lv, Linsheng Huang, Hui Zhong, Chunyan Wu, Qiyi Chen, Rong Yang, Qing Wei, Huanlong Qin
Summary: Autism spectrum disorder (ASD) is a complex behavioral disorder characterized by difficulties in social interaction, restricted verbal communication, and repetitive behaviors. Fecal microbiota transplantation (FMT) is a safe and efficient strategy to adjust gut microbiota dysbiosis and improve ASD-related behavioral symptoms, but its mechanism is still unknown. Understanding the impact of microbiota on ASD development is crucial for developing new therapeutic strategies.
TRANSLATIONAL PSYCHIATRY
(2023)
Article
Pediatrics
Yunhwan Kim, Mikyoung Kim, Chanhee Park, Joshua (Sung) H. You
Summary: This study aimed to compare the effects of conventional autism therapy (CAT) and integrative autism therapy (IAT) in children and adolescents with autism spectrum disorder (ASD). The results showed that IAT was more effective than CAT in certain domains.
Article
Genetics & Heredity
Alex Chubick, Evan Wang, Cora Au, Wayne W. Grody, Roel A. Ophoff
Summary: Expansion of CGG repeats in the FMR1 gene causes Fragile X Syndrome. This study examines the role of FMR1 premutation alleles in autism spectrum disorder (ASD) susceptibility through large-scale whole genome sequencing. The results suggest that FMR1 premutation alleles do not contribute to ASD susceptibility, although the computational analysis may overestimate their frequency.
Article
Behavioral Sciences
Shuang Qiu, Yan Li, Ye Bai, Jikang Shi, Heran Cui, Yulu Gu, Yaxuan Ren, Qian Zhao, Kaixin Zhang, Meihan Lu, Yihan Wang, Yong Li, Weijing Zhong, Xiaojuan Zhu, Yunkai Liu, Yi Cheng, Yichun Qiao, Yawen Liu
Article
Medicine, General & Internal
Wenxing Yan, Lihui Si, Yaming Ding, Shuang Qiu, Qi Zhang, Linlin Liu
Review
Psychiatry
Shuang Qiu, Yuping Lu, Yan Li, Jikang Shi, Heran Cui, Yulu Gu, Yong Li, Weijing Zhong, Xiaojuan Zhu, Yunkai Liu, Yi Cheng, Yawen Liu, Yichun Qiao
PSYCHIATRY RESEARCH
(2020)
Article
Oncology
Wenxing Yan, Shuang Qiu, Lihui Si, Yaming Ding, Qi Zhang, Linlin Liu
TRANSLATIONAL CANCER RESEARCH
(2020)
Article
Biochemistry & Molecular Biology
Jikang Shi, Zhaorui Cheng, Shuang Qiu, Heran Cui, Yulu Gu, Qian Zhao, Yaxuan Ren, He Zhang, Helin Sun, Yunkai Liu, Yong Li, Yichun Qiao, Yueyang Hu, Yawen Liu, Yi Cheng
LIPIDS IN HEALTH AND DISEASE
(2020)
Article
Pediatrics
Yan Li, Shuang Qiu, Jikang Shi, Yanbo Guo, Zhijun Li, Yi Cheng, Yawen Liu
Article
Biochemical Research Methods
Shuang Qiu, Zheng An, Renbo Tan, Ping-an He, Jingjing Jing, Hongxia Li, Shuang Wu, Ying Xu
Summary: The occurrence rate of certain cancer types follows a unimodal distribution over age, with a new computational model suggesting this is related to organ cancer risk and availability of growth signals in circulation. The study shows tight fitting results for triple negative breast cancer, testicular cancer and cervical cancer, indicating the potential for treating cancer by removing the necessary growth signals in circulation.
BRIEFINGS IN BIOINFORMATICS
(2021)
Article
Oncology
Qian Zhao, Kaixin Zhang, Yong Li, Yaxuan Ren, Jikang Shi, Yulu Gu, Shuang Qiu, Sainan Liu, Yi Cheng, Yichun Qiao, Yawen Liu
Summary: Previous studies have shown that the expression of activator protein-1 (AP-1) family is significantly elevated in triple negative breast cancer (TNBC), and the inhibitor T-5224 can target both AP-1 and OLFML2A to inhibit proliferation, migration, and invasion of TNBC cells. High level of OLFML2A is associated with poor prognosis in TNBC patients.
TRANSLATIONAL ONCOLOGY
(2021)
Review
Immunology
Hanyang Li, He Fang, Li Chang, Shuang Qiu, Xiaojun Ren, Lidong Cao, Jinda Bian, Zhenxiao Wang, Yi Guo, Jiayin Lv, Zhihui Sun, Tiejun Wang, Bingjin Li
Summary: Various C2 domain-containing proteins are crucial in tumorigenesis, signaling, and protein-protein interactions. TC2N, a protein with tandem C2 domains, shows differential expression in different cancers and is associated with tumorigenesis. Tumor-associated antigens have been identified as potential diagnostic and therapeutic targets in cancer treatment with differences in their expression levels in cancerous and normal cells.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Psychiatry
Yan Li, Chuanyong Sun, Yanbo Guo, Shuang Qiu, Yong Li, Yunkai Liu, Weijing Zhong, Hedi Wang, Yi Cheng, Yawen Liu
Summary: The polymorphisms of DIP2C gene are significantly associated with susceptibility and clinical phenotypes of autism spectrum disorder.
PSYCHIATRY RESEARCH
(2022)
Review
Psychiatry
Shuang Qiu, Yingjia Qiu, Yan Li, Xianling Cong
Summary: This article presents an umbrella review of genetic studies on autism spectrum disorder (ASD) and provides a comprehensive overview of the risk genes associated with ASD. The study identifies significant single nucleotide polymorphisms (SNPs) in genes such as CNTNAP2, MTHFR, OXTR, SLC25A12, and VDR that may confer ASD risks. The findings offer evidence-based information for clinicians and healthcare decision-makers, guiding future treatment, prevention, and research.
TRANSLATIONAL PSYCHIATRY
(2022)
Article
Psychiatry
Shuang Qiu, Yingjia Qiu, Yong Li, Xiaojuan Zhu, Yunkai Liu, Yichun Qiao, Yi Cheng, Yawen Liu
Summary: This study investigated the genetic differences in individuals with autism spectrum disorder (ASD) in the Northeast Han Chinese population and identified 22 potentially pathogenic copy number variations (CNVs) associated with ASD. Additionally, 20 potential pathogenic genes related to ASD were also discovered. These findings contribute to a better understanding of the etiology of ASD.
Article
Oncology
Lele Cong, Junxuan Yi, Shuang Qiu, Rui Wang, Shunzi Jin, Rihua Jiang, Xianling Cong
Summary: The study explored the mechanistic role of NRP1 in radiation resistance of NSCLC cells and the potential of EG00229 in reversing this resistance. Results showed increased expression of NRP1, EMT-related proteins, and metastasis-related proteins in radiation-resistant NSCLC cells, which were reduced upon treatment with EG00229. This study provides insights into the molecular mechanisms of radiation resistance and suggests a potential therapeutic strategy for improving lung cancer radiotherapy efficacy.
Article
Psychology, Developmental
Yan Li, Shuang Qiu, Weijing Zhong, Yong Li, Yunkai Liu, Yi Cheng, Yawen Liu
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2020)
Article
Education, Special
Yan Li, Shuang Qiu, Weijing Zhong, Jikang Shi, Heran Cui, Yong Li, Yunkai Liu, Yi Cheng, Yawen Liu
RESEARCH IN AUTISM SPECTRUM DISORDERS
(2020)