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
Comprehensive analysis of BTNL9 as a prognostic biomarker correlated with immune infiltrations in thyroid cancer
Thyroid cancer (THCA) is the most common type of endocrine cancers, and the disease recurrences were usually associated with the risks of metastasis and fatality. Butyrophilin-like protein 9 (BTNL9) is a membe... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 5, 2023 Category: Genetics & Stem Cells Authors: Luyao Zhang, Shuang Yu, Shubin Hong, Xi Xiao, Zhihong Liao, Yanbing Li and Haipeng Xiao Tags: Research Source Type: research
Causal effects of gut microbiome on autoimmune liver disease: a two-sample Mendelian randomization study
Epidemiological studies have indicated a potential link between the gut microbiome and autoimmune liver disease (AILD) such as autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), and primary scleros... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 3, 2023 Category: Genetics & Stem Cells Authors: Yugang Fu, Jiacheng Li, Yingying Zhu, Chong Chen, Jing Liu, Simin Gu, Yiyuan Zheng and Yong Li Tags: Research Source Type: research
Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health records
Vasomotor symptoms (VMS) can often significantly impact women ’s quality of life at menopause. In vivo studies have shown that increased neurokinin B (NKB) / neurokinin 3 receptor (NK3R) signalling contributes ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 2, 2023 Category: Genetics & Stem Cells Authors: Katherine S. Ruth, Robin N. Beaumont, Jonathan M. Locke, Jessica Tyrrell, Carolyn J. Crandall, Gareth Hawkes, Timothy M. Frayling, Julia K. Prague, Kashyap A. Patel, Andrew R. Wood, Michael N. Weedon and Anna Murray Tags: Research Source Type: research
CYP19A1 promotes gastric cancer as part of a lipid metabolism-related gene signature related to the response of immunotherapy and prognosis
Increasing evidence suggests that the metabolism of lipids plays a crucial role in the progression of gastric cancer. However, the expression of lipid metabolism-related genes (LMGs) still does not serve as a ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 2, 2023 Category: Genetics & Stem Cells Authors: Xinyi Zhou, Fanyu Meng, Linmei Xiao and Hua Shen Tags: Research Source Type: research
