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  1. Previous studies have reported the role of genes in different metabolic processes in the human body, and any variation in gene polymorphisms could lead to disturbances in these processes and different diseases.

    Authors: Hosam M. Ahmad, Zaki M. Zaki, Asmaa S. Mohamed and Amr E. Ahmed
    Citation: BMC Medical Genomics 2023 16:252
  2. Myocardial ischemia reperfusion injury (MIRI), the tissue damage which is caused by the returning of blood supply to tissue after a period of ischemia, greatly reduces the therapeutic effect of treatment of my...

    Authors: Ning Ma, Hao Xu, Weihua Zhang, Xiaoke Sun, Ruiming Guo, Donghai Liu, Liang Zhang, Yang Liu, Jian Zhang, Chenhui Qiao, Dong Chen, Ailing Luo and Jingyun Bai
    Citation: BMC Medical Genomics 2023 16:251
  3. 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...

    Authors: Bozhi Li, Yue Qu, Zhixin Fan, Xiayu Gong, Hanfang Xu, Lili Wu and Can Yan
    Citation: BMC Medical Genomics 2023 16:250
  4. Avian influenza viruses (AIV), particularly H5N6, have risen in infection frequency, prompting major concerns. Single-cell RNA sequencing (scRNA-seq) can illustrate the immune cell landscape present in the per...

    Authors: Jiamin Gao, Jing Wei, Simei Qin, Sheng Liu, Shuangyan Mo, Qian Long, Shiji Tan, Ning Lu, Zhouhua Xie and Jianyan Lin
    Citation: BMC Medical Genomics 2023 16:249
  5. Efferocytosis is a biological process in which phagocytes remove apoptotic cells and vesicles from tissues. This process is initiated by the release of inflammatory mediators from apoptotic cells and plays a c...

    Authors: Songyun Zhao, Qi Wang, Yuankun Liu, Pengpeng Zhang, Wei Ji, Jiaheng Xie and Chao Cheng
    Citation: BMC Medical Genomics 2023 16:248
  6. 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 ...

    Authors: Chaoying Kuang, Dandan Li, Xianqing Zhou, Hua Lin, Ruohan Zhang, Huixuan Xu, Shaoying Huang, Fang Tang, Fanna Liu, Donge Tang and Yong Dai
    Citation: BMC Medical Genomics 2023 16:247
  7. 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...

    Authors: Alfred Rakissida Ouedraogo, Lassina Traoré, 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 Wendkuuni Djigma, Assita Sanou Lamien, Albert Théophane Yonli, Olga Mélanie Lompo and Jacques Simporé
    Citation: BMC Medical Genomics 2023 16:246
  8. 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...

    Authors: Ruolan Guo, Yuanying Chen, Xuyun Hu, Zhan Qi, Jun Guo, Yuchuan Li and Chanjuan Hao
    Citation: BMC Medical Genomics 2023 16:245
  9. 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...

    Authors: Sherlyn Jemimah and Aamna AlShehhi
    Citation: BMC Medical Genomics 2023 16(Suppl 2):244

    This article is part of a Supplement: Volume 16 Supplement 2

  10. 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 ...

    Authors: Yunbiao He, Xia Chen, Mingliang Liu, Lei Zuo, Zhiyu Zhai, Long Zhou, Guangzhen Li, Li Chen, Guolong Qi, Chunxia Jing and Guang Hao
    Citation: BMC Medical Genomics 2023 16:242
  11. 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) ...

    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
    Citation: BMC Medical Genomics 2023 16:241
  12. Gallbladder carcinoma (GBC) is a highly malignant tumor with a poor overall prognosis. This study aimed to identify the characteristic microRNAs (miRNAs) of GBC and the competing endogenous RNA (ceRNA) regulat...

    Authors: Hanrui Shao, Jiahai Zhu, Ya Zhu, Lixin Liu, Songling Zhao, Qiang Kang, Yunxia Liu and Hao Zou
    Citation: BMC Medical Genomics 2023 16:240
  13. 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...

    Authors: Atefeh Mir, Yongjun Song, Hane Lee, Hossein Khanahmad, Erfan Khorram, Jafar Nasiri and Mohammad Amin Tabatabaiefar
    Citation: BMC Medical Genomics 2023 16:239
  14. 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...

    Authors: Bin Wang, Yang Liu, Yao-Chen Zhang, Zi-Yi Han, Jia-Lin Hou, Shuai Chen and Chuan Xiang
    Citation: BMC Medical Genomics 2023 16:237
  15. 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...

    Authors: Zheng Da, Rui Guo, Jianjian Sun and Ai Wang
    Citation: BMC Medical Genomics 2023 16:236
  16. 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...

    Authors: Ahmad Daneshi, Masoud Garshasbi, Mohammad Farhadi, Khalil Ghasemi Falavarjani, Mohammad Vafaee-Shahi, Navid Almadani, MohammadSina Zabihi, Mohammad Amin Ghalavand and Masoumeh Falah
    Citation: BMC Medical Genomics 2023 16:235
  17. 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...

    Authors: Luyao Zhang, Shuang Yu, Shubin Hong, Xi Xiao, Zhihong Liao, Yanbing Li and Haipeng Xiao
    Citation: BMC Medical Genomics 2023 16:234
  18. Intellectual disability (ID) is characterized by an IQ < 70, which implies below-average intellectual function and a lack of skills necessary for daily living. ID may occur due to multiple causes, such as meta...

    Authors: Le Wang, Xu-Dong Wang, Bo Yang, Xue-Meng Wang, Yu-Qian Peng, Hang-Jing Tan and Hong-Mei Xiao
    Citation: BMC Medical Genomics 2023 16:233
  19. 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...

    Authors: Yugang Fu, Jiacheng Li, Yingying Zhu, Chong Chen, Jing Liu, Simin Gu, Yiyuan Zheng and Yong Li
    Citation: BMC Medical Genomics 2023 16:232
  20. 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 ...

    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
    Citation: BMC Medical Genomics 2023 16:231
  21. LMNA gene encodes lamin A/C protein which participates in the construction of nuclear lamina, the mutations of LMNA result in a wide variety of diseases known as laminopathies. LMNA-related dilated cardiomyopathy...

    Authors: Lei Chang, Rong Huang, Jianzhou Chen, Guannan Li, Guangfei Shi, Biao Xu and Lian Wang
    Citation: BMC Medical Genomics 2023 16:229
  22. 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 ...

    Authors: Xinyi Zhou, Fanyu Meng, Linmei Xiao and Hua Shen
    Citation: BMC Medical Genomics 2023 16:228
  23. The most prevalent mutation in ovarian cancer is the TP53 mutation, which impacts the development and prognosis of the disease. We looked at how the TP53 mutation associates the immunophenotype of ovarian canc...

    Authors: Zhenxia Song, Jingwen Zhang, Yue Sun, Zhongmin Jiang and Xiaoning Liu
    Citation: BMC Medical Genomics 2023 16:227
  24. Pathogenic variants in the ATCAY gene are associated with a rare autosomal recessive disorder called Cayman cerebellar ataxia. Affected individuals display psychomotor retardation, cerebellar dysfunction, nystagm...

    Authors: Elham Salehi Siavashani, Mahmoud Reza Ashrafi, Homa Ghabeli, Morteza Heidari and Masoud Garshasbi
    Citation: BMC Medical Genomics 2023 16:226
  25. Individuals with sepsis exhibited a higher likelihood of benefiting from early initiation of specialized treatment to enhance the prognosis of the condition. The objective of this study is to identify potentia...

    Authors: Jinliang Peng, Chongrong Qiu, Jun Zhang and Xiaoliu Xiao
    Citation: BMC Medical Genomics 2023 16:224
  26. Joubert syndrome (JS) is a group of rare ciliopathies, mainly characterized by cerebellar dysplasia representing the “molar tooth sign (MTS)” on neuroimaging, hypotonia, and developmental delay. Having a compl...

    Authors: Liwei Fang, Lulu Wang, Li Yang, Xiaoyan Xu, Shanai Pei and De Wu
    Citation: BMC Medical Genomics 2023 16:221
  27. There is still a therapeutic challenge in treating gastric cancer (GC) due to its high incidence and poor prognosis. Collagen type V alpha 2 (COL5A2) is increased in various cancers, yet it remains unclear how...

    Authors: Meiru Chen, Xinying Zhu, Lixian Zhang and Dongqiang Zhao
    Citation: BMC Medical Genomics 2023 16:220
  28. The largest group of patients with breast cancer are estrogen receptor-positive (ER+) type. The estrogen receptor acts as a transcription factor and triggers cell proliferation and differentiation. Hence, investi...

    Authors: Zeynab Piryaei, Zahra Salehi, Esmaeil Ebrahimie, Mansour Ebrahimi and Kaveh Kavousi
    Citation: BMC Medical Genomics 2023 16:219
  29. This study aimed to uncover abnormally expressed genes regulated by competitive endogenous RNA (ceRNA) and DNA methylation nasopharyngeal carcinoma and to validate the role of lncRNAs in the ceRNA network on n...

    Authors: Ting Zhang, Lu Pei, Wen-Li Qiu, Yu-xia Wei, Bi-yun Liao and Feng-lian Yang
    Citation: BMC Medical Genomics 2023 16:218
  30. Colorectal cancer is a malignant tumor that poses a serious threat to human health. The main objective of this study is to investigate the mechanism by which Jatrorrhizine (JAT), a root extract from Stephania Epi...

    Authors: Lingyu Huang, Yu Sha, Wenken Liang, Chune Mo, Chunhong Li, Yecheng Deng, Weiwei Gong, Xianliang Hou and Minglin Ou
    Citation: BMC Medical Genomics 2023 16:217
  31. Polycystic ovary syndrome is a multifactorial endocrine disorder impacting women of reproductive age. Variations within the FTO gene have been linked to both obesity and type 2 diabetes mellitus. Given that PCOS ...

    Authors: Hiral Chaudhary, Jalpa Patel, Nayan K. Jain, Sonal Panchal, Naresh Laddha and Rushikesh Joshi
    Citation: BMC Medical Genomics 2023 16:216
  32. Hereditary hemolytic anemia (HHA) refers to a heterogeneous group of genetic disorders that share one common feature: destruction of circulating red blood cells (RBCs). The destruction of RBCs may be due to me...

    Authors: Yu Jeong Choi, Hongkyung Kim, Won Kee Ahn, Seung-Tae Lee, Jung Woo Han, Jong Rak Choi, Chuhl Joo Lyu, Seungmin Hahn and Saeam Shin
    Citation: BMC Medical Genomics 2023 16:215
  33. Dendritic cells (DCs) are most potent antigen-processing cells and play key roles in host defense against Mycobacterium tuberculosis (MTB) infection. In this study, hub genes in DCs during MTB infection were firs...

    Authors: Xiao Wu, Kewei Liu, Shanshan Li, Weicong Ren, Wei Wang, Yuanyuan Shang, Fuzhen Zhang, Yingying Huang, Yu Pang and Mengqiu Gao
    Citation: BMC Medical Genomics 2023 16:214
  34. Considering the essential roles that genetic factors play in azoospermia and oligospermia, this study aims to identify abnormal chromosomes using karyotyping and CNVs and elucidate the associated genes in pati...

    Authors: Xing Xin, Peng Xu, Nan Wang, Yi Jiang, Jiaqiao Zhang, Shufang Li, Ying Zhu, Cong Zhang, Long Zhang, Hailong Huang, Ling Feng and Shaoshuai Wang
    Citation: BMC Medical Genomics 2023 16:213
  35. The correlation between smoking and alcohol consumption and the development of Dupuytren’s disease (DD) has been acknowledged. However, the definitive causal relationship between these two factors and DD remai...

    Authors: Zifeng Wang, Zhenyu Wang, Zijian Yan, Zhujie Xu and Aiguo Gao
    Citation: BMC Medical Genomics 2023 16:212
  36. Hepatocellular carcinoma (HCC) is a prevalent tumor that poses a significant threat to human health, with 80% of cases being primary HCC. At present, Early diagnosis and predict prognosis of HCC is challenging...

    Authors: Deyang Xi, Jialu Wang, Yinshuang Yang, Fang Ji, Chunyang Li and Xuebing Yan
    Citation: BMC Medical Genomics 2023 16:211
  37. Cerebral ischaemia‒reperfusion (I/R) frequently causes late-onset neuronal damage. Breviscapine promotes autophagy in microvascular endothelial cells in I/R and can inhibit oxidative damage and apoptosis. Howe...

    Authors: Cheng Wan, Jingchun Pei, Dan Wang, Jihong Hu, Zhiwei Tang and Wei Zhao
    Citation: BMC Medical Genomics 2023 16:210
  38. Gastric cancer (GC) is one of the most common malignancies, affected by several genetic loci in the clinical phenotype. This study aimed to determine the association between PTGER4 and PRKAA1 gene polymorphisms a...

    Authors: Shuyong Yu, Ruisha Tu, Zhaowei Chen, Jian Song, Ping Li, Feixiang Hu, Guihong Yuan, Ronglin Zhang and Yini Li
    Citation: BMC Medical Genomics 2023 16:209
  39. Attention deficit hyperactivity disorder (ADHD) is commonly associated with developmental dyslexia (DD), which are both prevalent and complicated pediatric neurodevelopmental disorders that have a significant ...

    Authors: HE Hongyao, JI Chun, Gao Xiaoyan, Liu Fangfang, Zhang Jing, Zhong Lin, Zuo Pengxiang and Li Zengchun
    Citation: BMC Medical Genomics 2023 16:208
  40. Statin-induced myopathy is reported to be associated with the solute carrier organic anion transporter family member 1B1 gene single nucleotide polymorphism, c.521 T > C. There is no epidemiologic data on this...

    Authors: Mulata Haile Nega, Derbew Fikadu Berhe and Vera Ribeiro
    Citation: BMC Medical Genomics 2023 16:207
  41. To analyze the relationship between plasma metal elements, ApoE gene polymorphisms and the interaction between the two and impaired cognitive function in elderly population.

    Authors: Zeyan Ye, Dechan Tan, Tingyu Luo, Ruoyu Gou, Jianshen Cai, Yanfei Wei, Kailian He, Song Xiao, Tingyu Mai, Xu Tang, Qiumei Liu, Xiaoting Mo, Yinxia Lin, Shenxiang Huang, You Li, Jian Qin…
    Citation: BMC Medical Genomics 2023 16:206
  42. The SARS-CoV-2 Omicron variant has replaced the previously dominant Delta variant because of high transmissibility. However, studies on the impact of the Omicron variant on the severity of COVID-19 are still l...

    Authors: Gunadi, Mohamad Saifudin Hakim, Hendra Wibawa, Khanza Adzkia Vujira, Dyah Ayu Puspitarani, Endah Supriyati, Ika Trisnawati, Kristy Iskandar, Riat El Khair, Afiahayati, Siswanto, Yunika Puspadewi, Sri Handayani Irianingsih, Dwi Aris Agung Nugrahaningsih, Laudria Stella Eryvinka, Fadila Dyah Trie Utami…
    Citation: BMC Medical Genomics 2023 16:205
  43. The genetic architecture of rheumatoid arthritis (RA) and osteoarthritis (OA) are still unclear. Although RA and OA have quite different causes, they share synovial inflammation, risk factors, and some disease...

    Authors: Aliaa M. Selim, Yumn A. Elsabagh, Maha M. El-Sawalhi, Nabila A. Ismail and Mahmoud A. Senousy
    Citation: BMC Medical Genomics 2023 16:204
  44. Neurodevelopmental disorder with absent language and variable seizures (NEDALVS, # 618707) are characterized by delayed speech and motor development, ocular abnormalities, and seizures. NEDAVLS is an autosomal...

    Authors: Xiang Tang, Guoqing Liu, Li Lin, Nong Xiao and Yuxia Chen
    Citation: BMC Medical Genomics 2023 16:203

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