Dissecting causal and putative mechanistic pathways from lifestyle factors to neurological diseases via the glymphatic system: a Mendelian randomization study [0.03%]
基于甘淋巴系统的生活方式因素至神经疾病因果和假定发病机制路径的梅涅尔随机化研究
Weiyu Hou,Weiming Hou
Weiyu Hou
Objective: This study aimed to investigate the causal associations and potential mechanistic pathways involving pulse rate, neuronal cell adhesion molecule (NrCAM), migraine, and other neurological disorders within the co...
A rare missense variant in Bruton's tyrosine kinase is associated with bipolar disorder accompanied by psychosis [0.03%]
布鲁顿酪氨酸激酶罕见错义变异与伴有精神病的双相情感障碍相关
Ambreen Kanwal,Husnain Arshad Cheema,Nauman Jabbar et al.
Ambreen Kanwal et al.
Introduction: Bipolar disorder is a mental disorder associated with extreme mood shifts. Psychosis (hallucinations, delusions, and thought disorder) can also co-occur in some patients. Although highly heritable, the genet...
Identification of rare missense variants of ionotropic glutamate receptor N-methyl-D-aspartate 2 genes in patients with schizophrenia [0.03%]
精神分裂症患者中离子型谷氨酸受体N-甲基-D-天冬氨酸2基因罕见错义变异的鉴定
Chia-Liang Wu,Tsung-Ming Hu,Shih-Hsin Hsu et al.
Chia-Liang Wu et al.
Schizophrenia is a chronic mental disorder characterized by abnormal synaptic connectivity. N-methyl-D-aspartate receptors (NMDARs) are essential for synaptic transmission and plasticity, and rare variants in the genes encoding NMDARs are l...
Expression and function of miR-218-5p in the pathogenesis of postpartum depression [0.03%]
miR-218-5p在产后抑郁症发病机制中的表达和功能研究
Liyan Yu,Qian Liu
Liyan Yu
Background: Postpartum depression (PPD) is a prevalent mental health condition following childbirth, currently diagnosed primarily through subjective evaluations, and its underlying biological mechanisms remain poorly und...
Case report of a boy with autism spectrum disorder and lysinuric protein intolerance [0.03%]
一名孤独症谱系障碍并溶酶尿蛋白耐受不良综合征患儿的病例报告
Vildan Ak,Husna Kaan,Ali Karayagmurlu
Vildan Ak
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with an increasing prevalence. Genetic factors play an important role in the etiology of ASD, and researchers and clinicians have shown increasing interest in understanding the...
Familial co-occurrence of autism spectrum disorder and 47 XYY syndrome: revisiting the role of Y chromosome dosage in neurodevelopment [0.03%]
孤独症谱系障碍和47,XYY综合征的家族共病：重新审视性染色体剂量在神经发育中的作用
Mehri Durak,Halenur Teke
Mehri Durak
We describe a rare familial occurrence involving two brothers: one diagnosed with autism spectrum disorder (ASD), and the other with a postnatally confirmed 47 XYY karyotype exhibiting autistic traits below the diagnostic threshold. The you...
Genetic correlation between inflammatory bowel disease and educational attainment: unveiling shared genetic mechanisms [0.03%]
炎症性肠病与受教育年限之间的遗传相关性：揭示共享的遗传机制
Zhonghua Hong,Hezhai Yin
Zhonghua Hong
Background: A potential genetic link between inflammatory bowel disease (IBD) and educational attainment has been suggested. Understanding the underlying mechanisms of this genetic relationship is crucial for advancing th...
Are polygenic scores for psychiatric and substance use outcomes "ready" for clinical application? Current state and next steps [0.03%]
多基因评分在精神病学和物质使用结果的临床应用中是否已经“准备好”？现状及未来步骤
Danielle M Dick,Genevieve F Dash,I-Tzu Hung et al.
Danielle M Dick et al.
Despite drastic advances in psychiatric genetics, comparatively little attention has focused on the translation of those discoveries into real-world impact. This paper reviews the processes and considerations for integrating new techniques ...
Prenatal diagnosis and genetic counseling for three cases of fetuses with low-level mosaic Turner syndrome [0.03%]
低水平嵌合型特纳综合征胎儿的产前诊断及遗传咨询三例
Hongbo Dai,Quanlun Li,Yan Quan
Hongbo Dai
Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome, is the most common sex chromosomal abnormality found in females. It results when one of the X chromosomes is missing, partially or completely. About half of the po...
Elucidation of crucial metabolic pathways in the etiology of autism spectrum disorder through whole exome sequencing and chromosomal microarray [0.03%]
通过外显子组测序和染色体微阵列技术阐明自闭症光谱障碍致病的关键代谢途径
Shaik Mohammad Naushad,Shaik Esdhan Basha,Yadam Reddy Kanaka Durga Devi et al.
Shaik Mohammad Naushad et al.
Background: Autism spectrum disorder (ASD) has a complex genetic etiology, with limited data from Indian populations. This study delineates the genetic architecture of ASD in Indian children using whole exome sequencing (...