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  1. Most endometrial cancers are of low histological grade and uterine-confined, with a high 5-year survival rate. However, a small subset of women with low-grade and early-stage endometrioid endometrial cancer ex...

    Authors: Lan Zhong, Wei Jiang, RutieYin, Hui Liu and Liang Song
    Citation: BMC Medical Genomics 2023 16:137
  2. Gastric cancer (GC) is among the most common types of gastrointestinal cancers and has a high incidence and mortality around the world. To suppress the progression of GC, it is essential to develop diagnostic ...

    Authors: Yeongdon Ju, Go-Eun Choi, Moon Won Lee, Myeongguk Jeong, Hyeokjin Kwon, Dong Hyeok Kim, Jungho Kim, Hyunwoo Jin, Kyung Eun Lee, Kyung-Yae Hyun and Aelee Jang
    Citation: BMC Medical Genomics 2023 16:135
  3. Vascular smooth muscle cells (VSMCs) dysfunction participates in carotid artery stenosis (CAS). The study aimed to examine the expression pattern of miR-361-5p in CAS patients, and explore its role in VSMCs pr...

    Authors: Fei Wang, Yumei An and Huihui Hao
    Citation: BMC Medical Genomics 2023 16:134
  4. The primary pathological alterations of Pendred syndrome are endolymphatic pH acidification and luminal enlargement of the inner ear. However, the molecular contributions of specific cell types remain poorly c...

    Authors: Jin-Young Koh, Corentin Affortit, Paul T. Ranum, Cody West, William D. Walls, Hidekane Yoshimura, Jian Q. Shao, Brian Mostaert and Richard J.H. Smith
    Citation: BMC Medical Genomics 2023 16:133
  5. Recent studies suggest that classical coronary risk factors play a significant role in the pathogenesis of coronary artery disease. Our study aims to explore the interaction of circRNA with classical coronary ...

    Authors: Shu He, Yahong Fu, Chengcheng Li, Xiongkang Gan, Yanjun Wang, Hanxiao Zhou, Rongli Jiang, Qian Zhang, Qiaowei Jia, Xiumei Chen and En-Zhi Jia
    Citation: BMC Medical Genomics 2023 16:131
  6. Hepatocellular carcinoma (HCC) immunotherapy is a focus of current research. We established a model that can effectively predict the prognosis and efficacy of HCC immunotherapy by analyzing the immune genes of...

    Authors: Liang Sun, Zhengyi Wu, Cairong Dong, Shian Yu, He Huang, Zhendong Chen, Zhipeng Wu and Xiangbao Yin
    Citation: BMC Medical Genomics 2023 16:130
  7. Skin cutaneous melanoma (SKCM) is an extremely malignant tumor that is associated with a poor prognosis. LSM2 has been found to be related to different types of tumors; however, its role in SKCM is poorly defi...

    Authors: Xiaofang Sun, Jianping Zhang, Jiayuan Hu, Qingdong Han and Zili Ge
    Citation: BMC Medical Genomics 2023 16:129
  8. Dilated cardiomyopathy type-2D (CMD2D) is a rare heart disease causing a severe cardiomyopathy with neonatal onset and rapid progression to cardiac decompensation and death in untreated patients. CMD2D is an a...

    Authors: Qi Yang, Qiang Zhang, Zailong Qin, Shujie Zhang, Sheng Yi, Shang Yi, Qinle Zhang and Jingsi Luo
    Citation: BMC Medical Genomics 2023 16:127
  9. Hereditary genetic mutations causing predisposition to colorectal cancer are accountable for approximately 30% of all colorectal cancer cases. However, only a small fraction of these are high penetrant mutatio...

    Authors: Ashish Kumar Singh, Bente Talseth-Palmer, Alexandre Xavier, Rodney J. Scott, Finn Drabløs and Wenche Sjursen
    Citation: BMC Medical Genomics 2023 16:126
  10. Although observational studies have established some socioeconomic traits to be independent risk factors for pelvic organ prolapse (POP), they can not infer causality since they are easily biased by confoundin...

    Authors: Wei Zhang, Jing Ge, Zhaohui Qu, Wenjuan Wu, Hua Lei, Huiling Pan and Honggu Chen
    Citation: BMC Medical Genomics 2023 16:125
  11. DNA methylation played a crucial role in the pathogenesis of immune thrombocytopenia (ITP). However, genome-wide DNA methylation analysis has not been applied thus far. The present study aimed to provide the f...

    Authors: Hanzhi Du, Qinghua Tang, Jian Yang, Bin Yan, Lihong Yang and Mengchang Wang
    Citation: BMC Medical Genomics 2023 16:124
  12. Glycosylation involved in various biological function, aberrant glycosylation plays an important role in cancer development and progression. Glycosyltransferase 8 domain containing 1 (GLT8D1) and GLT8D2, as me...

    Authors: Huimei Xu, Ke Huang, Yimin Lin, Hang Gong, Xueni Ma and Dekui Zhang
    Citation: BMC Medical Genomics 2023 16:123

    The Correction to this article has been published in BMC Medical Genomics 2023 16:136

  13. Some bladder-related diseases, such as bladder urinary tract infection (UTI) and bladder cancer (BCa), have significant six differences in incidence and prognosis. However, the molecular mechanisms underlying ...

    Authors: Ribao Wu, Xiahong Teng, Qiong Song, Shuai Chen, Lihui Wang, Jinling Liao and Chunlin Zou
    Citation: BMC Medical Genomics 2023 16:122
  14. At present, Multiplex ligation-dependent probe amplification (MLPA) and exome sequencing are common gene detection methods in patients with Duchenne muscular dystrophy or Becker muscular dystrophy (DMD/BMD), b...

    Authors: Feng Tang, Yuanyuan Xiao, Cong Zhou, Haixia Zhang, Jing Wang and Yang Zeng
    Citation: BMC Medical Genomics 2023 16:121
  15. Congenital insensitivity to pain (CIP) is a rare autosomal recessive disorder characterized primarily by an inability to perceive physical pain from birth, resulting in the accumulation of bruising, inflammati...

    Authors: Boushra Khaled, Mahmoud Alzahayqa, Ahmad Jaffal, Husam Sallam, Rua’a Thawabta, Mamoun Mansour, Akram Alian and Zaidoun Salah
    Citation: BMC Medical Genomics 2023 16:120
  16. The genetic etiology of congenital pulmonary stenosis (PS) in fetuses remains inadequately studied. We used karyotype analysis and chromosomal microarray analysis (CMA) to investigate the genetic aberrations a...

    Authors: Meiying Cai, Nan Guo, Meimei Fu, Yuqing Chen, Bin Liang, Yanting Que, Qingqiang Ji, Hailong Huang, Liangpu Xu and Na Lin
    Citation: BMC Medical Genomics 2023 16:119
  17. TSC22D domain family genes, including TSC22D1-4, play a principal role in cancer progression. However, their expression profiles and prognostic significance in adult acute myeloid leukemia (AML) remain unknown.

    Authors: XiaoQiang Xu, Rui Sun, YuanZhang Li, JiaXi Wang, Meng Zhang, Xia Xiong, DanNi Xie, Xin Jin and MingFeng Zhao
    Citation: BMC Medical Genomics 2023 16:117
  18. Dysregulated lipid metabolism enhances the development and advancement of many cancers, including osteosarcoma (OS); however, the underlying mechanisms are still largely unknown. Therefore, this investigation ...

    Authors: Zhifang Tang, Hanzhen Feng, Longjun Shu, Minzheng Guo, Baochuang Qi, Luqiao Pu, Hongxin Shi, Junxiao Ren and Chuan Li
    Citation: BMC Medical Genomics 2023 16:115
  19. A multitude of studies have highlighted that copy number variants (CNVs) are associated with neurodevelopmental disorders (NDDs) characterized by a wide range of clinical characteristics. Benefiting from CNV c...

    Authors: Lihua Yu, Hongke Ding, Min Liu, Ling Liu, Qi Zhang, Jian Lu, Fangfang Guo and Yan Zhang
    Citation: BMC Medical Genomics 2023 16:114
  20. Polymorphisms of genes related to the immune response have been reported to confer susceptibility to Vogt-Koyanagi-Harada (VKH) disease. This study was carried out to determine whether zinc finger CCCH-type co...

    Authors: Qiuying Wu, Zhenyu Zhong, Chunya Zhou, Qingfeng Cao, Guannan Su and Peizeng Yang
    Citation: BMC Medical Genomics 2023 16:113
  21. Fatty acids are involved in a wide range of immunological responses in humans. Supplementation of polyunsaturated fatty acids has been reported to help alleviate symptoms and airway inflammation in asthma pati...

    Authors: Tingting Huang, Yichen Long, Yang Ou, Jia Li, Yilin Huang and Jinming Gao
    Citation: BMC Medical Genomics 2023 16:112
  22. Xq22.1–q22.3 deletion is a rare chromosome aberration. The purpose of this study was to identify the correlation between the phenotype and genotype of chromosome Xq22.1–q22.3 deletions.

    Authors: Hui-Hui Xu, Yang Zhang, Zhe-Hang He, Xing-Hong Di, Fei-Yan Pan and Wei-Wu Shi
    Citation: BMC Medical Genomics 2023 16:111
  23. Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women. This study was designed to investigate the associations of vitamin D receptor (VDR) gene variants with PCOS risk and the severity of...

    Authors: Ibrahim A Albahlol, Mustafa Neamatallah, Mohamed Saad Serria, Abdel-Hady El-Gilany, Yomna A Setate, Nashwa M. Alkasaby, Sally Abdallah Mostafa, Mahmoud Abdelaziz, Hossam Elazab and Omar A. Ammar
    Citation: BMC Medical Genomics 2023 16:108
  24. Pancreatic adenocarcinoma (PDAC) is a malignant tumor with high heterogeneity and poor prognosis. In this study, we sought to identify the value of platelet-related genes in prognosis and heterogeneity of PDAC...

    Authors: Jian-Gang Zhao, Yu-Jie Li, Yong Wu, Ke Zhang, Lin-Jia Peng and Hao Chen
    Citation: BMC Medical Genomics 2023 16:106
  25. Colorectal cancer is considered as the second most common cancer worldwide. Studies have shown that m6A RNA methylation abnormalities play an important role in the pathogenesis of many human diseases, includin...

    Authors: Tao Jiang, Linshuai Xing, Lipeng Zhao, Ziqi Ye, Dong Yu and Shengtao Lin
    Citation: BMC Medical Genomics 2023 16:105
  26. Peptidyl arginine deiminase 4 (PADI4) has been implicated in Rheumatoid arthritis (RA) pathogenesis. Here we aimed to evaluate the association of PADI4 gene rs11203367 and rs1748033 single nucleotide polymorphism...

    Authors: Zahra Bagheri-Hosseinabadi, Mohammad Reza Mirzaei, Ozrasadat Esmaeili, Fatemeh Asadi, Hassan Ahmadinia, Banafshe Shamsoddini and Mitra Abbasifard
    Citation: BMC Medical Genomics 2023 16:104
  27. Small cell lung cancer (SCLC) is a very malignant tumor with rapid growth and early metastasis. Platinum-based chemo-resistance is the major issue for SCLC treatment failure. Identifying a new prognostic model...

    Authors: Yani Zhang, Qizhi Zhu, Jian Qi, Meng Fu, Ao Xu, Wei Wang, Hongzhi Wang, Jinfu Nie and Bo Hong
    Citation: BMC Medical Genomics 2023 16:103
  28. Atherosclerosis (AS) is a chronic inflammatory disease that might induce severe cardiovascular events, such as myocardial infarction and cerebral infarction. These risk factors in the pathogenesis of AS remain...

    Authors: Shihuan Li, Suqin Li, Qingjie Li, Qiaofeng Zhou, Wenli Liao, Liangzhu Yu, Changhan Ouyang, Hongli Xia, Chao Liu and Mincai Li
    Citation: BMC Medical Genomics 2023 16:102
  29. Retinoblastoma (RB) is frequently occurring malignant tumors that originate in the retina, and their exact cause and development mechanisms are yet to be fully comprehended. In this study, we identified possib...

    Authors: Jun Mao, Mingzhi Lu, Siduo Lu, Yiqiao Xing, Xuejiao Xu, Ying Chen, Huirong Xu, Wei Zuo, Jingwen Zhou and Wei Du
    Citation: BMC Medical Genomics 2023 16:101
  30. Atherosclerosis is the main pathological change in atherosclerotic cardiovascular disease, and its underlying mechanisms are not well understood. The aim of this study was to explore the hub genes involved in ...

    Authors: Zhipeng Zheng, Dong Yuan, Cheng Shen, Zhiyuan Zhang, Jun Ye and Li Zhu
    Citation: BMC Medical Genomics 2023 16:100
  31. Colorectal cancer (CRC) is one of the most common cancers in the world. Approximately two-thirds of patients with CRC will develop colorectal cancer liver metastases (CRLM) at some point in time. In this study...

    Authors: Xuan Zhang, Tao Wu, Jinmei Zhou, Xiaoqiong Chen, Chao Dong, Zhangyou Guo, Renfang Yang, Rui Liang, Qing Feng, Ruixi Hu, Yunfeng Li and Rong Ding
    Citation: BMC Medical Genomics 2023 16:99
  32. Gordon Holmes syndrome (GHS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, cognitive decline, and cerebellar ataxia. Mutations in the Ring Finger Protein 216 (RNF216) gene...

    Authors: Nazlı Durmaz Çelik, Ebru Erzurumluoğlu, Serkan Özben, Uğur Toprak, Göknur Yorulmaz, Sevilhan Artan and Serhat Özkan
    Citation: BMC Medical Genomics 2023 16:98
  33. circular RNAs (circRNAs) play a crucial role in many physiological and pathological processes including juvenile-onset systemic lupus erythematosus (JSLE). The aim of this study is to investigate the role of c...

    Authors: Qifan Wang, Baiye Xu, Qingmei Zhang, Haidao Wang, Shulian Chen, Tingting Chen and Shishan Liang
    Citation: BMC Medical Genomics 2023 16:97
  34. While adjuvant endocrine therapy (ET) may decrease the mortality rate of estrogen receptor-positive (ER+) breast cancer (BC), the likelihood of relapse and metastasis due to ET resistance remains high. Cupropt...

    Authors: Dongni Zhang, Wenping Lu, Zhili Zhuo, Yanan Wang, Weixuan Zhang and Mengfan Zhang
    Citation: BMC Medical Genomics 2023 16:96
  35. Homozygous truncating mutations located in the C-terminal region of the desmoplakin gene (DSP) are known to mainly cause Carvajal syndrome, an autosomal recessive syndromic form of arrhythmogenic cardiomyopathy w...

    Authors: Malena P. Pantou, Polyxeni Gourzi, Vasiliki Vlagkouli, Efstathios Papatheodorou, Alexandros Tsoutsinos, Eva Nyktari, Dimitrios Degiannis and Aris Anastasakis
    Citation: BMC Medical Genomics 2023 16:95
  36. The effects of Anabolic Androgenic Steroids (AAS) are largely illustrated through Androgen Receptor induced gene transcription, yet RNA-Seq has yet to be conducted on human whole blood and skeletal muscle. Inv...

    Authors: Alexander Kolliari-Turner, Giscard Lima, Guan Wang, Fernanda Rossell Malinsky, Antonia Karanikolou, Gregor Eichhorn, Kumpei Tanisawa, Jonathan Ospina-Betancurt, Blair Hamilton, Paulette Y.O. Kumi, Jonathan Shurlock, Vasileios Skiadas, Richard Twycross-Lewis, Liam Kilduff, Renan Paulo Martin, Garrett I. Ash…
    Citation: BMC Medical Genomics 2023 16:94
  37. The interaction between tumor cells and immune or non-immune stromal cells creates a unique tumor microenvironment, which plays an important role in the growth, invasion and metastasis of gastric cancer (GC).

    Authors: Jing Dai, Qiqing Li, Jun Quan, Gunther Webb, Juan Liu and Kai Gao
    Citation: BMC Medical Genomics 2023 16:93

    The Correction to this article has been published in BMC Medical Genomics 2023 16:107

  38. Programmed death-1 (PDCD-1) and lymphocyte activating 3 (LAG3), two important immunosuppressive molecules, play crucial roles in immune escape of tumor cells. This study evaluated the effects of PDCD-1 (rs1020...

    Authors: Jiankai Wei, Zhangxiu Liao, Ying Tao and Shuaiting Liu
    Citation: BMC Medical Genomics 2023 16:92
  39. The pathogenesis of preeclampsia superimposed on chronic hypertension (SI) is poorly understood relative to preeclampsia (PreE) occurring in pregnant people without chronic hypertension. Placental transcriptom...

    Authors: Ashley M. Hesson, Elizabeth S. Langen, Olesya Plazyo, Johann E. Gudjonsson and Santhi K. Ganesh
    Citation: BMC Medical Genomics 2023 16:91
  40. Diabetic kidney disease (DKD) is a major complication of diabetes and the leading cause of end-stage renal disease worldwide. Renal inflammation and infiltration of immune cells contribute to the development a...

    Authors: Shengnan Chen, Bo Li, Lei Chen and Hongli Jiang
    Citation: BMC Medical Genomics 2023 16:90
  41. Inherited retinal dystrophies (IRDs) are a major cause of vision loss. Altogether are highly heterogeneous genotypically and phenotypically, exhibiting substantial differences worldwide. To shed more light on ...

    Authors: Lama Jaffal, Hawraa Joumaa, Jinane Noureldine, Malak Banjak, Mariam Ibrahim, Zamzam Mrad, Ali Salami and Said El Shamieh
    Citation: BMC Medical Genomics 2023 16:89
  42. Apoptosis has been discovered as a mechanism of cell death. The purpose of this study is to identify the diagnostic signature factors related to bladder cancer (BLCA) through apoptosis related genes (ARGs). Cl...

    Authors: Liquan Zhou, Guanglong Xu, Fu Huang, Wenyuan Chen, Jiange Zhang and Yong Tang
    Citation: BMC Medical Genomics 2023 16:88

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