Investigation of cytochrome B mutations, and UCP2 and STC1 gene expressions in patients with bipolar disorder [0.03%]
双相障碍患者血红素B突变及UCP2和STC1基因表达的调查研究
Sevgi Karabulut Uzunçakmak,Halil Özcan,Ebubekir Dirican
Sevgi Karabulut Uzunçakmak
Objective: The aim herein was to investigate mitochondrial cytochrome B (MT-CYB) mutations in individuals with bipolar disorder. Stanniocalcin-1 (STC1) and uncoupling protein 2 (UCP2) mRNA expressions and their relationsh...
The diagnostic significance of miR-20b-5p in schizophrenia and its impact on the symptoms of schizophrenia [0.03%]
miR-20b-5p在精神分裂症诊断中的意义及其对精神分裂症症状的影响
Jianhui Li,Yao Cheng,Wei Lu
Jianhui Li
Objective: Schizophrenia is a long-term neurological condition that impacts the quality of life of patients. To explore the expression of miR-20b-5p in schizophrenia, to analyze the diagnostic role of miR-20b-5p in schizo...
A case of CHD2 variant-associated psychosis and response to treatment [0.03%]
CHD2变异相关的病态反应及治疗效果案例研究
Mark A Colijn,Iliana Ortega,Julie Lauzon
Mark A Colijn
Although psychotic symptoms have occasionally been associated with pathogenic CHD2 variants, few articles have provided phenotypic information in this respect or described treatment response. We describe an 18-year-old female with a 15q26.1...
Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype [0.03%]
成人发病的异染性白质脑病：一种具有特殊表型的新基因类型
Levent Şimşek,Sena Özden,Mehmet Ak et al.
Levent Şimşek et al.
Background: Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ARSA). Accumulation of sulfatide, substrate of ARSA, in the central and peripheral nervous system...
A review of antipsychotic therapy effectiveness and tolerability among individuals with copy number variants relevant to schizophrenia [0.03%]
拷与精神分裂症相关的基因副本数变异的人抗精神病治疗的有效性和耐受性综述
Mark A Colijn
Mark A Colijn
Although numerous copy number variants (CNVs) are considered pathogenic with respect to the development of schizophrenia, only eight loci have reached genome-wide significance. Reviews/studies characterizing antipsychotic use in this contex...
Prenatal diagnosis and genetic counseling of a Chinese family with inherited multiple chromosomal microduplications [0.03%]
具有遗传性多重染色体微重复的一家中国家庭的产前诊断和遗传咨询
Fang Hu,Guoqiong Zhang
Fang Hu
Background: Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Chromosomal microdeletions and microduplications have long been associated with abnormal developmental outcomes. ...
A nonsense variant in the C-terminal transactivation domain of the EBF3 gene in an individual with intellectual disability and behavioural disorder: case report and literature review [0.03%]
EBF3基因C端转录激活区中的无意义变异与智力障碍及行为异常的关联：病例报告和文献回顾
Samira Spineli-Silva,Nicole de Leeuw,Larissa B Pontes et al.
Samira Spineli-Silva et al.
Heterozygous variants in the Early B cell factor 3 (EBF3) have been reported in individuals presenting with hypotonia, ataxia and delayed development syndrome (HADDS) (MIM#617330). However, individuals with pathogenic variants in EBF3 show ...
A machine learning approach to predict treatment efficacy and adverse effects in major depression using CYP2C19 and clinical-environmental predictors [0.03%]
利用CYP2C19和临床-环境预测指标预测主要抑郁障碍的治疗效果及不良反应的机器学习方法
Marco Calabrò,Chiara Fabbri,Alessandro Serretti et al.
Marco Calabrò et al.
Background: Major depressive disorder (MDD) is among the leading causes of disability worldwide and treatment efficacy is variable across patients. Polymorphisms in cytochrome P450 2C19 (CYP2C19) play a role in response a...
Unresolved ethical issues of genetic counseling and testing in clinical psychiatry [0.03%]
临床精神病学中基因咨询和检测未解决的伦理问题
Julia Perry,Eline Bunnik,Marcella Rietschel et al.
Julia Perry et al.
Objective: This position article discusses current major ethical and social issues related to genetic counseling and testing in clinical psychiatry (PsyGCT). ...
Identification of de-novo CREBBP gene variants in patients with Rubinstein-Taybi syndrome [0.03%]
识别出Rubinstein-Taybi综合征患者中新出现的CREBBP基因变异体
Qinghong Ji,Weihong Ma,Gang Xin et al.
Qinghong Ji et al.
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant genetic disease characterized by growth retardation, psychomotor retardation, and distinctive facial features. It is primarily caused by mutations in CREBBP or EP300. In this study, ...