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  1. Article

    Open Access

    Genetic evidence for causal association between migraine and dementia: a mendelian randomization study

    There is an association between migraine and dementia, however, their causal relationship remains unclear. This study employed bidirectional two-sample Mendelian randomization (MR) to investigate the potential...

    Qiuyi Chen, Chengcheng Zhang, Shiyang Wu, Yiwei He, Yuhan Liu in BMC Medical Genomics (2024)

  2. Article

    Open Access

    RNA-seq reveals differentially expressed lncRNAs and circRNAs and their associated functional network in HTR-8/Svneo cells under hypoxic conditions

    Placental hypoxia is hazardous to maternal health as well as fetal growth and development. Preeclampsia and intrauterine growth restriction are common pregnancy problems, and one of the causes is placental hyp...

    Jiaqing Zhou, YueHua Sheng, Zhezhan Chen, Huiqing Ding in BMC Medical Genomics (2024)

  3. Article

    Open Access

    Comprehensive analysis of the expression, prognostic, and immune infiltration for COL4s in stomach adenocarcinoma

    Collagen (COL) genes, play a key role in tumor invasion and metastasis, are involved in tumor extracellular matrix (ECM)-receptor interactions and focal adhesion pathways. However, studies focusing on the diag...

    Ying Xu, Hangbin **, Yan Chen, Zhen Yang, Dongchao Xu in BMC Medical Genomics (2024)

  4. Article

    Open Access

    The prognostic significance of ubiquitination-related genes in multiple myeloma by bioinformatics analysis

    Immunoregulatory drugs regulate the ubiquitin-proteasome system, which is the main treatment for multiple myeloma (MM) at present. In this study, bioinformatics analysis was used to construct the risk model an...

    Feng zhang, **ao-Lei Chen, Hong-Fang Wang, Tao Guo, ** Yao in BMC Medical Genomics (2024)

  5. Article

    Open Access

    Identification of miRNA expression profile in middle ear cholesteatoma using small RNA-sequencing

    The present study aims to identify the differential miRNA expression profile in middle ear cholesteatoma and explore their potential roles in its pathogenesis.

    Mengyao **e, Qi Tang, Shu Wang, **aowu Huang, Zhiyuan Wu in BMC Medical Genomics (2024)

  6. Article

    Open Access

    No causal relationship between glucose and inflammatory bowel disease: a bidirectional two-sample mendelian randomization study

    Association between glucose and inflammatory bowel disease (IBD) was found in previous observational studies and in cohort studies. However, it is not clear whether these associations reflect causality. Thus, ...

    JiePeng Cen, Kequan Chen, Ziyan Ni, QiJie Dai, Weipeng Lu in BMC Medical Genomics (2024)

  7. Article

    Open Access

    Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency

    To investigate the clinical features, ALDH5A1 gene variations, treatment, and prognosis of patients with succinic semialdehyde dehydrogenase (SSADH) deficiency.

    Hui Dong, Xue Ma, Zhehui Chen, Huiting Zhang, **qing Song in BMC Medical Genomics (2024)

  8. Article

    Open Access

    ZEB family is a prognostic biomarker and correlates with anoikis and immune infiltration in kidney renal clear cell carcinoma

    Zinc finger E-box binding homEeobox 1 (ZEB1) and ZEB2 are two anoikis-related transcription factors. The mRNA expressions of these two genes are significantly increased in kidney renal clear cell carcinoma (KI...

    Sheng Lin, Qi Chen, Canliang Tan, Manyi Su, Ling Min, Lv Ling in BMC Medical Genomics (2024)

  9. Article

    Open Access

    Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population

    Previous studies have implicated inherited mutations in mitochondrial DNA (mtDNA) in sensorineural hearing loss (SNHL). However, the definitive association between mitochondrial 12S rRNA (MT-RNR1) variants and he...

    Hou-Kuang Chen, Yow-Wen Hsieh, Hsing-Yu Hsu, Ting-Yuan Liu in BMC Medical Genomics (2024)

  10. Article

    Open Access

    Deciphering the molecular nexus of BTG2 in periodontitis and diabetic kidney disease

    To investigate the role of BTG2 in periodontitis and diabetic kidney disease (DKD) and its potential underlying mechanism.

    Binhui Pan, Yangyang Teng, Renban Wang, Dan Chen, Hui Chen in BMC Medical Genomics (2024)

  11. Article

    Open Access

    The potential role of RNA sequencing in diagnosing unexplained insensitivity to conventional chemotherapy in pediatric patients with B-cell acute lymphoblastic leukemia

    Pediatric B-cell acute lymphoblastic leukemia (B-ALL) is a highly heterogeneous disease. According to large-scale RNA sequencing (RNA-seq) data, B-ALL patients can be divided into more than 10 subgroups. Howev...

    **nyu Li, Zaoli Huang, Liwen Zhu, Weixin Lai, Yunyao Li, Han Chen in BMC Medical Genomics (2024)

  12. Article

    Open Access

    Tumorigenic role of Pak4 in ovarian cancer and its correlation with immune infiltration

    Ovarian cancer is the most common cause of gynecological cancer death. Pak4 has been proved to be tumorigenic in many types of cancers, but its role in ovarian cancer is still not clarified.

    Lan Tang, Hong Ye, Li Chen, Weiwei Dong, **ngyan Hu, Lan Yu in BMC Medical Genomics (2024)

  13. Article

    Open Access

    Causal roles and clinical utility of cardiovascular proteins in colorectal cancer risk: a multi-modal study integrating mendelian randomization, expression profiling, and survival analysis

    This comprehensive investigation delved into the intricate causal interplay existing between cardiovascular-related plasma proteins and the susceptibility to colorectal cancer, leveraging the robust framework ...

    Chenlei Tan, Yanhua Li, Kexin Wang, Ying Lin, Yu Chen, Xuebao Zheng in BMC Medical Genomics (2024)

  14. Article

    Open Access

    Complex genotype–phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes

    Thoracic aortic aneurysm/dissection (TAAD) and patent ductus arteriosus (PDA) are serious autosomal-dominant diseases affecting the cardiovascular system. They are mainly caused by variants in the MYH11 gene, whi...

    **aojiao Wei, Yunting Ma, Bobo **e, Chunrong Gui, Meizhen Shi in BMC Medical Genomics (2024)

  15. Article

    Open Access

    Integrated bioinformatics analysis for exploring potential biomarkers related to Parkinson’s disease progression

    Parkinson’s disease (PD) is a progressive neurodegenerative disease with increasing prevalence. Effective diagnostic markers and therapeutic methods are still lacking. Exploring key molecular markers and mecha...

    Zhenchao Huang, En’peng Song, Zhijie Chen, Peng Yu, Weiwen Chen in BMC Medical Genomics (2024)

  16. Article

    Open Access

    Correction: Pancancer analysis of the prognostic and immunological role of FANCD2: a potential target for carcinogenesis and survival

    Zedan Zhao, Ruyu Wang, Ruixue Wang, Jialing Song, Fengjun Ma in BMC Medical Genomics (2024)

  17. Article

    Open Access

    Identification of DNA methylation characteristics associated with metastasis and prognosis in colorectal cancer

    Colorectal cancer (CRC) is prone to metastasis and recurrence after surgery, which is one of the main causes for its poor treatment and prognosis. Therefore, it is essential to identify biomarkers associated w...

    Fang Qian, Qiang Li, Huidan Chang, Kai Wei, **aoyi Chen, Tao Huang in BMC Medical Genomics (2024)

  18. Article

    Open Access

    No genetic causal association between periodontitis and ankylosing spondylitis: a bidirectional two-sample mendelian randomization analysis

    Observational studies that reveal an association between periodontitis (PD) and ankylosing spondylitis (AS) exist. However, observational research is prone to reverse causality and confounding factors, which m...

    Chong Han, Dongchao Wu, Feiyan Yu, Qianqian Wang, Yang Yang, Yi Li in BMC Medical Genomics (2024)

  19. Article

    Open Access

    Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome

    Sotos syndrome (SOTOS) is an uncommon genetic condition that manifests itself with the following distinctive features: prenatal overgrowth, facial abnormalities, and intellectual disability. This disorder is o...

    Zhuo Ren, Ling Yue, Hua-ying Hu, **ao-lin Hou, Wen-qi Chen, Ya Tan in BMC Medical Genomics (2024)

  20. Article

    Open Access

    Bioinformatics analysis revealed the potential crosstalk genes and molecular mechanisms between intracranial aneurysms and periodontitis

    The risk of intracranial aneurysms (IAs) development and rupture is significantly higher in patients with periodontitis (PD), suggesting an association between the two. However, the specific mechanisms of asso...

    Yao Chen, Jian-huang Huang, Yuan-bao Kang, Zheng-jian Yao in BMC Medical Genomics (2024)

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