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  1. 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
    Content type: Research Published on:

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

  2. 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
    Content type: Research Published on:

  3. 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
    Content type: Research Published on:

  4. 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
    Content type: Research Published on:

  6. 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
    Content type: Research Published on:

  8. 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
    Content type: Research Published on:

  9. 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
    Content type: Case Report Published on:

  10. 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
    Content type: Research Published on:

  11. 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
    Content type: Research Published on:

  12. 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
    Content type: Research article Published on:

  15. 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
    Content type: Research Published on:

  17. 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
    Content type: Research Published on:

  18. 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
    Content type: Research Published on:

  19. 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
    Content type: Research Published on:

  20. 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
    Content type: Research Published on:

  21. 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
    Content type: Research Published on:

  22. 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
    Content type: Research Published on:

  23. 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
    Content type: Research Published on:

  24. 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
    Content type: Research Published on:

  25. 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
    Content type: Case Report Published on:

  26. 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
    Content type: Research Published on:

  27. 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
    Content type: Research Published on:

  28. 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
    Content type: Case Report Published on:

  29. 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
    Content type: Research Published on:

  30. 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
    Content type: Research Published on:

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

  31. 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
    Content type: Research Published on:

  32. 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
    Content type: Research Published on:

  33. 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
    Content type: Research Published on:

  34. 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
    Content type: Research Published on:

  35. 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
    Content type: Research Published on:

  38. Neurofibromatosis type 1 (NF1) presents an autosomal dominant, haploinsufficient, and multisystemic disorder with patches of skin café-au-lait spots, lisch nodules in the iris, even tumors in the peripheral ne...

    Authors: Lisha Yang, Jiewen Fu, Jingliang Cheng, Baixu Zhou, Maomei Chen, Songyot Anuchapreeda and Junjiang Fu
    Citation: BMC Medical Genomics 2023 16:85
    Content type: Research Published on:

  39. Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability, classified into t...

    Authors: Xiaoyu Huang, Xue Rui, Shuang Zhang, Xiaolong Qi, Weining Rong and Xunlun Sheng
    Citation: BMC Medical Genomics 2023 16:84
    Content type: Research Published on:

  40. Non-immune hydrops fetalis (NIHF) is a non-specific symptom associated with a wide range of disorders. The prognosis of NIHF depends on the underlying etiology. In this study, we investigated the incidence of ...

    Authors: Danhua Guo, Shuqiong He, Na Lin, Yifang Dai, Ying Li, Liangpu Xu and Xiaoqing Wu
    Citation: BMC Medical Genomics 2023 16:83
    Content type: Research Published on:

  41. Increasing epidemiological studies demonstrated that modifiable risk factors affected the risk of kidney stones. We aimed to systemically assess these causal associations using a bidirectional Mendelian random...

    Authors: Wen Liu, Miaomiao Wang, Jianyong Liu, Qiuxia Yan and Ming Liu
    Citation: BMC Medical Genomics 2023 16:82
    Content type: Research Published on:

  42. Hepatocellular carcinoma (HCC) remains a global health threat. Finding a novel biomarker for assessing the prognosis and new therapeutic targets is vital to treating this patient population. Our study aimed to...

    Authors: Ruili Ding, Chuanbing Zhao, Yixin Jing, Rong Chen and Qingtao Meng
    Citation: BMC Medical Genomics 2023 16:81
    Content type: Research Published on:

  43. Achondroplasia is a congenital skeletal system malformation caused by missense variant of FGFR3 gene with an incidence of 1 per 20,000–30,000 newborns, which is an autosomal dominant inheritance disease. Despite ...

    Authors: Shujun Chen, Hongmei Dong, Yong Luo, Yingpin Zhang and Pan Li
    Citation: BMC Medical Genomics 2023 16:80
    Content type: Case Report Published on:

  44. Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane structural protein (wolframin), is essential for several biological processes, including proper inner ear function. Unlike the recessively inheri...

    Authors: Hui Dong Lim, So Min Lee, Ye Jin Yun, Dae Hee Lee, Jun Ho Lee, Seung-Ha Oh and Sang-Yeon Lee
    Citation: BMC Medical Genomics 2023 16:79
    Content type: Research Published on:

  45. Tyrosine hydroxylase deficiency (THD) is a rare movement disorder with broad phenotypic expression caused by bi-allelic mutations in the TH gene, which encode for tyrosine hydroxylase (TH) protein. Some patients ...

    Authors: Zoe Maria Dominique Reyes, Emma Lynch, Julia Henry, Lenika Marina De Simone and Sarah A. Sobotka
    Citation: BMC Medical Genomics 2023 16:78
    Content type: Case report Published on:

  46. Secukinumab is a fully human IgG1κ MoAb that selectively binds to IL-17A with high affinity, and it has been proven effective for the treatment of psoriasis. However, the immune response pathways and mechanism...

    Authors: Jing Wang, Yufang Liu, Yuxin Zhang, Shiyan Wang, Shaomei Kang, Ningyu Mi, Ruxin Li and Yulin Zou
    Citation: BMC Medical Genomics 2023 16:77
    Content type: Research Published on:

  48. Growing evidence suggests that various reproductive factors, including early menarche, early menopause, and age at first birth, may increase the risk of developing cardiovascular disease (CVD) later in life. H...

    Authors: Miao Chen, Zhen Wang, Hongfei Xu, Xiaofang Chen, Peng Teng and Liang Ma
    Citation: BMC Medical Genomics 2023 16:75
    Content type: Research Published on:

  49. With advances in massive parallel sequencing (MPS) technology, whole-genome sequencing (WGS) has gradually evolved into the first-tier diagnostic test for genetic disorders. However, deployment practice and pi...

    Authors: Ziying Yang, Xu Yang, Yan Sun, Yaoshen Wang, Lijie Song, Zhihong Qiao, Zhonghai Fang, Zhonghua Wang, Lipei Liu, Yunmei Chen, Saiying Yan, Xueqin Guo, Junqing Zhang, Chunna Fan, Fengxia Liu, Zhiyu Peng…
    Citation: BMC Medical Genomics 2023 16:74
    Content type: Research Published on:

  50. Due to the increasing application of genome analysis and interpretation in medical disciplines, professionals require adequate education. Here, we present the implementation of personal genotyping as an educat...

    Authors: Tamara Slosarek, Susanne Ibing, Barbara Schormair, Henrike O. Heyne, Erwin P. Böttinger, Till F. M. Andlauer and Claudia Schurmann
    Citation: BMC Medical Genomics 2023 16:73
    Content type: Research Published on:
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BMC Medical Genomics

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