Causal relationships between blood lipids and major psychiatric disorders: Univariable and multivariable mendelian randomization analysis
Whether the positive associations of blood lipids with psychiatric disorders are causal is uncertain. We conducted this two-sample Mendelian randomization (MR) analysis to comprehensively investigate associati... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 18, 2023 Category: Genetics & Stem Cells Authors: Bozhi Li, Yue Qu, Zhixin Fan, Xiayu Gong, Hanfang Xu, Lili Wu and Can Yan Tags: Research Source Type: research

Association of HLA-DRB1*11 and HLA-DRB1*12 gene polymorphism with COVID-19 in Burkina Faso
The clinical manifestations of coronavirus disease (COVID-19) can vary widely, ranging from asymptomatic to severe, and may be influenced by the host genetic background. The aim of the present study was to det... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 16, 2023 Category: Genetics & Stem Cells Authors: Alfred Rakissida Ouedraogo, Lassina Traor é, Abdoul Karim Ouattara, Alexis Rakiswende Ouedraogo, Sidnooma Véronique Zongo, Mousso Savadogo, Tatiana Doriane Lallogo, Herman Karim Sombie, Pegdwendé Abel Sorgho, Teega-wendé Clarisse Ouedraogo, Florencia Tags: Research Source Type: research

Proteomic analysis of lysine 2-hydroxyisobutyryl in SLE reveals protein modification alteration in complement and coagulation cascades and platelet activation Pathways
Post-translational modifications (PTMs) are considered to be an important factor in the pathogenesis of Systemic lupus erythematosus (SLE). Lysine 2-hydroxyisobutyryl (Khib), as an emerging post-translational ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 16, 2023 Category: Genetics & Stem Cells Authors: Chaoying Kuang, Dandan Li, Xianqing Zhou, Hua Lin, Ruohan Zhang, Huixuan Xu, Shaoying Huang, Fang Tang, Fanna Liu, Donge Tang and Yong Dai Tags: Research Source Type: research

Origin recognition complex subunit 1(ORC1) is a potential biomarker and therapeutic target in cancer
The origin recognition complex 1 (ORC1) is a large subunit of the origin recognition complex and acts as the master subunit of the precoding complex. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 13, 2023 Category: Genetics & Stem Cells Authors: Linling Wu, Hui Chen and Chao Yang Tags: Research Source Type: research

c-Diadem: a constrained dual-input deep learning model to identify novel biomarkers in Alzheimer ’s disease
Alzheimer ’s disease (AD) is an incurable, debilitating neurodegenerative disorder. Current biomarkers for AD diagnosis require expensive neuroimaging or invasive cerebrospinal fluid sampling, thus precluding e... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 13, 2023 Category: Genetics & Stem Cells Authors: Sherlyn Jemimah and Aamna AlShehhi Tags: Research Source Type: research

Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review
Aminoacyl-tRNA synthetases (ARSs) are indispensable enzymes for protein biosynthesis in cells. The phenylalanyl-tRNA synthetase (FARS1) located in cytoplasm which consists of two FARS alpha subunits (FARSA) an... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 13, 2023 Category: Genetics & Stem Cells Authors: Ruolan Guo, Yuanying Chen, Xuyun Hu, Zhan Qi, Jun Guo, Yuchuan Li and Chanjuan Hao Tags: Research Source Type: research

Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients
Cranio-lenticulo-sutural dysplasia (CLSD) is a rare dysmorphic syndrome characterized by skeletal dysmorphism, late-closing fontanels, and cataracts. CLSD is caused by mutations in the SEC23A gene (OMIM# 607812) ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 12, 2023 Category: Genetics & Stem Cells Authors: Qiwei Wang, Xiaoshan Lin, Kunbei Lai, Yinghui Liu, Tingfeng Qin, Haowen Tan, Jing Li, Zhuoling Lin, Xulin Zhang, Xiaoyan Li, Haotian Lin and Weirong Chen Tags: Research Source Type: research

The potential DNA methylation markers of cardiovascular disease in patients with type 2 diabetes
DNA methylation is associated with cardiovascular (CV) disease. However, in type 2 diabetes (T2D) patients, the role of gene methylation in the development of CV disease is under-studied. We aimed to identify ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 12, 2023 Category: Genetics & Stem Cells Authors: Yunbiao He, Xia Chen, Mingliang Liu, Lei Zuo, Zhiyu Zhai, Long Zhou, Guangzhen Li, Li Chen, Guolong Qi, Chunxia Jing and Guang Hao Tags: Research Source Type: research

Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature
Intellectual disability (ID) is a heterogeneous condition affecting brain development, function, and/or structure. The X-linked mode of inheritance of ID (X-linked intellectual disability; XLID) has a prevalen... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 11, 2023 Category: Genetics & Stem Cells Authors: Atefeh Mir, Yongjun Song, Hane Lee, Hossein Khanahmad, Erfan Khorram, Jafar Nasiri and Mohammad Amin Tabatabaiefar Tags: Research Source Type: research

Identification of characteristic genes and construction of regulatory network in gallbladder carcinoma
This study aimed to identify the characteristic microRNAs (miRNAs) of GBC and the competing endogenous RNA (ceRNA) regulat... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 11, 2023 Category: Genetics & Stem Cells Authors: Hanrui Shao, Jiahai Zhu, Ya Zhu, Lixin Liu, Songling Zhao, Qiang Kang, Yunxia Liu and Hao Zou Tags: Research Source Type: research

Assessment of causal effects of physical activity on the risk of osteoarthritis: a two-sample Mendelian randomization study
Growing evidence supports an association between physical activity (PA) and the risk of osteoarthritis (OA), but this may be influenced by confounding and reverse causality. Therefore, we performed a two-sampl... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 9, 2023 Category: Genetics & Stem Cells Authors: Bin Wang, Yang Liu, Yao-Chen Zhang, Zi-Yi Han, Jia-Lin Hou, Shuai Chen and Chuan Xiang Tags: Research Source Type: research

Mendelian randomization study confirms causal relationship between myopia and vitreous disorders
This study aims to investigate the potential bidirectional causal relationship between myopia and vitreous disorders from a genetic perspective, as vitreous disorders have been found to be closely associated w... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 9, 2023 Category: Genetics & Stem Cells Authors: Jiayu Xu and Ya Mo Tags: Research Source Type: research

Identification of osteoarthritis-characteristic genes and immunological micro-environment features through bioinformatics and machine learning-based approaches
Osteoarthritis (OA) is a multifaceted chronic joint disease characterized by complex mechanisms. It has a detrimental impact on the quality of life for individuals in the middle-aged and elderly population whi... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 7, 2023 Category: Genetics & Stem Cells Authors: Zheng Da, Rui Guo, Jianjian Sun and Ai Wang Tags: Research Source Type: research

Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12
Mutations in ABHD12 (OMIM: 613,599) are associated with polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) syndrome (OMIM: 612674), which is a rare autosomal recessive neurodegenerat... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 6, 2023 Category: Genetics & Stem Cells Authors: Ahmad Daneshi, Masoud Garshasbi, Mohammad Farhadi, Khalil Ghasemi Falavarjani, Mohammad Vafaee-Shahi, Navid Almadani, MohammadSina Zabihi, Mohammad Amin Ghalavand and Masoumeh Falah Tags: Research Source Type: research

Novel SETBP1 mutation in a chinese family with intellectual disability
Intellectual disability (ID) is characterized by an IQ   (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 5, 2023 Category: Genetics & Stem Cells Authors: Le Wang, Xu-Dong Wang, Bo Yang, Xue-Meng Wang, Yu-Qian Peng, Hang-Jing Tan and Hong-Mei Xiao Tags: Research Source Type: research