Identification of rare missense mutations in the glutamate ionotropic receptor AMPA type subunit genes in schizophrenia [0.03%]
精神分裂症中谷氨酸离子型受体AMPA类型亚基基因罕见错义突变的识别
Ko-Huan Lin,Tsung-Ming Hu,Shih-Hsin Hsu et al.
Ko-Huan Lin et al.
Objective: The alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors significantly regulate the synaptic transmission and functions of various synaptic receptors. This study aimed to identify single nucle...
Investigation of the forkhead box protein P2 gene by the next-generation sequence analysis method in children diagnosed with specific learning disorder [0.03%]
下一代序列分析方法在被诊断为特定学习障碍的儿童中对叉头框蛋白P2基因的调查研究
Merve Yazıcı,Çiğdem Yektaş,Recep Eröz et al.
Merve Yazıcı et al.
Objective: It was aimed to investigate the role of the forkhead box protein P2 (FOXP2) gene in the cause of specific learning disorder (SLD) with the next-generation sequencing method. ...
Raffaella Zanardi,Matteo Carminati,Francesco Attanasio et al.
Raffaella Zanardi et al.
Nonpharmacological antidepressant treatments are effective and well tolerated in selected patients. However, response is heterogeneous and validated biomarkers would be precious to aid treatment choice. We searched Pubmed, Scopus, and Googl...
Study protocol of DIVERGE, the first genetic epidemiological study of major depressive disorder in Pakistan [0.03%]
DIVERGE研究方案，巴基斯坦首次重性抑郁障碍的遗传流行病学研究
Maria Valkovskaya,Arsalan Hassan,Eirini Zartaloudi et al.
Maria Valkovskaya et al.
Introduction: Globally, 80% of the burdenof major depressive disorder (MDD) pertains to low- and middle-income countries. Research into genetic and environmental risk factors has the potential to uncover disease mechanism...
Treatment-resistant manic episode in a patient diagnosed with bipolar affective disorder [0.03%]
被诊断为双相情感障碍的患者出现难治性躁狂发作
Nikolaos Papadimitriou,Diomidis Antoniadis,Athina Ververi
Nikolaos Papadimitriou
A considerable group of patients suffering from mental health disorders do not respond adequately to pharmacological treatment. For the purposes of precision and personalized medicine, pharmacogenomics has been developed as a valuable and p...
Mendelian randomization study on the effect of tumor necrosis factor on schizophrenia [0.03%]
肿瘤坏死因子对精神分裂症影响的孟德尔随机化研究
Ning Ma,Renxi Wang
Ning Ma
Objective: Previous observational studies have shown that the levels of tumor necrosis factor (TNF) increased in patients with schizophrenia. The present two-sample Mendelian randomization (MR) study aims to identify the ...
Applications of Mendelian randomization in psychiatry: a comprehensive systematic review [0.03%]
精神科中孟德尔随机化的应用：一项全面的系统回顾
Luigi F Saccaro,Simone Gasparini,Grazia Rutigliano
Luigi F Saccaro
Psychiatric diseases exact a heavy socioeconomic toll, and it is particularly difficult to identify their risk factors and causative mechanisms due to their multifactorial nature, the limited physiopathological insight, the many confounding...
Sabita Yadav,Ayushi Chhabra,G Mahesh
Sabita Yadav
Introduction: The distribution pattern and knowledge structure of psychiatric genomics were surveyed based on literature dealing with both psychiatry and genomics/genetics. Coword analysis and bibliographic coupling of th...
Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them [0.03%]
RPS6KA3新突变导致两例科芬-洛里综合征及其中一例伴发强迫性皱眉症
Semra Gürsoy,Filiz Hazan,Elif Çetinoğlu
Semra Gürsoy
Coffin-Lowry syndrome (CLS) is a rare X-linked disorder that, usually affects males, presenting with intellectual disability, short stature, growth retardation, short hands, hyperextensible fingers and progressive kyphoscoliosis. Due to ske...
Association analysis of risk genes identified by SCHEMA with schizophrenia in the Chinese Han population [0.03%]
SCHEMA鉴定的自闭症风险基因多态性与中国汉族精神分裂症患者的相关性分析
Aiguo Guo,Peng Lun,Jianhua Chen et al.
Aiguo Guo et al.
Background: Schizophrenia is a chronic brain disorder. Previously, the Schizophrenia Exome Sequencing Meta-analysis consortium identified 10 highest risk genes related to schizophrenia. This study aimed to analyze the rel...