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  1. In recent years, drug screening has been one of the most significant challenges in the field of personalized medicine, particularly in cancer treatment. However, several new platforms have been introduced to a...

    Authors: Majid Mokhtari, Samane Khoshbakht, Mohammad Esmaeil Akbari and Sayyed Sajjad Moravveji
    Citation: BMC Medical Genomics 2023 16:328
    Content type: Research Published on:

    The Correction to this article has been published in BMC Medical Genomics 2024 17:13

  2. Long non-coding RNA (lncRNA) has been implicated in the pathogenesis of pulmonary tuberculosis (PTB). This study aims to investigate the involvement of lncRNA THRIL and HOTAIR gene single nucleotide polymorphisms...

    Authors: Li-Jun Wang, Rui Li, Tian-Ping Zhang and Hong-Miao Li
    Citation: BMC Medical Genomics 2023 16:326
    Content type: Research Published on:

  4. Embryo aneuploidy is a main of principal reason of pregnancy loss, in vitro fertilization (IVF) failure and birth defects in offspring. Previous researchs have demonstrated that Y chromosome AZFc microdeletion...

    Authors: Wei Jiang, Qijun Xie, Xin Li, Ye Yang, Ting Luan, Danyu Ni, Yuting Chen, Xinyu Wang, Chun Zhao and Xiufeng Ling
    Citation: BMC Medical Genomics 2023 16:324
    Content type: Research Published on:

  5. Severe combined immunodeficiency (SCID) is a group of fatal primary immunodeficiencies characterized by the severe impairment of T-cell differentiation. IL7R deficiency is a rare form of SCID that usually present...

    Authors: Lulu Yan, Yan He, Yuxin Zhang, Yingwen Liu, Limin Xu, Chunxiao Han, Yudan Zhao and Haibo Li
    Citation: BMC Medical Genomics 2023 16:323
    Content type: Case Report Published on:

  6. The research aimed to detect the association between single nucleotide polymorphisms (SNPs) in CYP4V2 gene and coronary heart disease (CHD) risk.

    Authors: Kang Huang, Tianyi Ma, Qiang Li, Zanrui Zhong, Yilei Zhou, Wei Zhang, Ting Qin, Shilin Tang, Jianghua Zhong and Shijuan Lu
    Citation: BMC Medical Genomics 2023 16:322
    Content type: Research Published on:

  7. Haploinsufficiency is widely accepted as the pathogenic mechanism of hereditary spastic paraplegias type 4 (SPG4). However, there are some cases that cannot be explained by reduced function of the spastin prot...

    Authors: Jie Wang, Yihan Wu, Hong Dong, Yunpeng Ji, Lichun Zhang, Yaxian Liu, Yueshi Liu, Xin Gao, Yueqi Jia and Xiaohua Wang
    Citation: BMC Medical Genomics 2023 16:321
    Content type: Research Published on:

  8. TMC1, which encodes transmembrane channel-like protein 1, forms the mechanoelectrical transduction (MET) channel in auditory hair cells, necessary for auditory function. TMC1 variants are known to cause autosomal...

    Authors: Sung Ho Cho, Yejin Yun, Dae Hee Lee, Joo Hyun Cha, So Min Lee, Jehyun Lee, Myung Hwan Suh, Jun Ho Lee, Seung-Ha Oh, Moo Kyun Park and Sang-Yeon Lee
    Citation: BMC Medical Genomics 2023 16:320
    Content type: Research Published on:

  9. The severity of chronic hepatitis C and susceptibility to hepatocellular carcinoma (HCC) are associated with genetic variations within vitamin D receptor (VDR) in several populations. This study aims to determ...

    Authors: Asmaa Samir El-masry, Amina M. Medhat, Mahmoud El-Bendary and Rania Hassan Mohamed
    Citation: BMC Medical Genomics 2023 16:319
    Content type: Research Published on:

  10. Short-rib polydactyly syndrome (SRPS) refers to a group of lethal skeletal dysplasias that can be difficult to differentiate between subtypes or from other non-lethal skeletal dysplasias such as Ellis-van Crev...

    Authors: Ying Peng, Lin Zhou, Jing Chen, Xiaoliang Huang, Jialun Pang, Jing Liu, Wanglan Tang, Shuting Yang, Changbiao Liang and Wanqin Xie
    Citation: BMC Medical Genomics 2023 16:318
    Content type: Research Published on:

  11. Glioma cells have increased intake and metabolism of methionine, which can be monitored with 11 C-L-methionine. However, a short half-life of 11 C (~ 20 min) limits its application in clinical practice. It is ...

    Authors: Sujin Zhou, Xianan Zhao, Shiwei Zhang, Xue Tian, Xuepeng Wang, Yunping Mu, Fanghong Li, Allan Z. Zhao and Zhenggang Zhao
    Citation: BMC Medical Genomics 2023 16:317
    Content type: Research Published on:

  13. Distal chromosome 16 duplication syndrome (also known as 16q partial trisomy) is a very rare genetic disorder recently described in few clinical reports. 16q trisomy is generally associated with a multisystemi...

    Authors: Antonino Moschella, Anna Paola Capra, Domenico Corica, Giorgia Pepe, Silvia Di Tommaso, Ester Sallicandro, Malgorzata G. Wasniewska, Silvana Briuglia and Tommaso Aversa
    Citation: BMC Medical Genomics 2023 16:315
    Content type: Case Report Published on:

  14. N6-methyladenosine (m6A) mRNA modification plays a critical role in various human biological processes. However, there has been no study reported to elucidate its role in hepatic ischemia-reperfusion injury (IRI)...

    Authors: Yixi Zhang, Can Qi, Yiwen Guo, Xuefeng Li and Zebin Zhu
    Citation: BMC Medical Genomics 2023 16:314
    Content type: Research Published on:

  15. Diabetic foot ulcers (DFU) are among the fastest-growing diseases worldwide. Recent evidence has emphasized the critical role of microRNA (miRNA)-mRNA networks in various chronic wounds, including DFU. In this...

    Authors: Yuanyuan Xu, Jianchang Xu, Sirong Chen, Anbang Zhou, Guangjing Huang, Shidao Huang, Dianbo Yu and Biaoliang Wu
    Citation: BMC Medical Genomics 2023 16:313
    Content type: Research Published on:

  16. Friedreich ataxia is the most common inherited ataxia in Europe and is mainly caused by biallelic pathogenic expansions of the GAA trinucleotide repeat in intron 1 of the FXN gene that lead to a decrease in frata...

    Authors: Cinthia Aguilera, Anna Esteve-Garcia, Carlos Casasnovas, Valentina Vélez-Santamaria, Laura Rausell, Pablo Gargallo, Javier Garcia-Planells, Pedro Alía, Núria Llecha and Ariadna Padró-Miquel
    Citation: BMC Medical Genomics 2023 16:312
    Content type: Case Report Published on:

  17. Gastric cancer (GC) is one of the most diagnosed cancers worldwide. GC is a heterogeneous disease whose pathogenesis has not been entirely understood. Besides, the GC prognosis for patients remains poor. Hence...

    Authors: Fatemeh Abdolahi, Ali Shahraki, Roghayeh Sheervalilou and Sedigheh Sadat Mortazavi
    Citation: BMC Medical Genomics 2023 16:311
    Content type: Research Published on:

  20. Diminished ovarian reserve (DOR) is defined as a reduction in ovarian reserve and oocyte quality. The pathophysiology of DOR has not been completely explained as of yet. Scholars have uncovered a large number ...

    Authors: Kai-Yuan Shen, Xiao-Li Dai, Shun Li, Fen Huang, Li-Qun Chen, Ping Luo and Xiao-Li Qu
    Citation: BMC Medical Genomics 2023 16:308
    Content type: Research Published on:

  21. ATP7B is a copper-transporting protein that contributes to the chemo-resistance of human cancer cells. It remains unclear what the molecular mechanisms behind ATP7B are in cancer, as well as its role in human ...

    Authors: Zhanzhan Zhang, Aobo Zhang, Yunpeng Shi, Zijun Zhao and Zongmao Zhao
    Citation: BMC Medical Genomics 2023 16:307
    Content type: Research Published on:

  22. Altered interleukin (IL)-18 levels are associated with immune-mediated inflammatory diseases (IMIDs), but no studies have investigated their causal relationship. This study aimed to examine the causal associat...

    Authors: Jialing Wu, Xi Zhang, Dongze Wu, Ou Jin and Jieruo Gu
    Citation: BMC Medical Genomics 2023 16:306
    Content type: Research Published on:

  24. In children with CKD, Protein Energy Wasting (PEW) is common, which affects the outcome of children and is an important cause of poor prognosis. We are aiming to explore the pathogenesis of muscle wasting in C...

    Authors: Liang Ying, Jiang Yeping, Wang Hui, Zhou Nan, FuQian and Shen Ying
    Citation: BMC Medical Genomics 2023 16:304
    Content type: Research Published on:

  25. In 2018, our center started a program to offer genetic diagnosis to patients with kidney and liver monogenic rare conditions, potentially eligible for organ transplantation. We exploited a clinical exome seque...

    Authors: Claudia Saglia, Valeria Bracciamà, Luca Trotta, Fiorenza Mioli, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Silvia Kalantari, Maria Luca, Carmelo Maria Romeo, Caterina Scolari, Licia Peruzzi, Pier Luigi Calvo, Alessandro Mussa, Roberta Fenoglio, Dario Roccatello, Claudio Alberti…
    Citation: BMC Medical Genomics 2023 16:303
    Content type: Research Published on:

  27. Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic disorder caused by variants in genes involved in the function of the primary cilium. We have harnessed genomics to ...

    Authors: Aziz Belkadi, Gaurav Thareja, Adnan Khan, Nisha Stephan, Shaza Zaghlool, Anna Halama, Ayeda Abdulsalam Ahmed, Yasmin A. Mohamoud, Joel Malek, Karsten Suhre and Rayaz A. Malik
    Citation: BMC Medical Genomics 2023 16:301
    Content type: Research Published on:

  28. Neoadjuvant chemotherapy (NAC) is a well-established treatment modality for locally advanced breast cancer (BC). However, it can also result in severe toxicities while controlling tumors...

    Authors: Xiaojun Zhang, Ran Feng, Junbin Guo, Lihui Pan, Yarong Yao and Jinnan Gao
    Citation: BMC Medical Genomics 2023 16:300
    Content type: Research Published on:

  30. With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication...

    Authors: Xiaorui Xie, Baojia Huang, Linjuan Su, Meiying Cai, Yuqin Chen, Xiaoqing Wu and Liangpu Xu
    Citation: BMC Medical Genomics 2023 16:298
    Content type: Research Published on:

  31. Cerebral stroke (CS) is the leading cause of death in China, and a complex disease caused by both alterable risk factors and genetic factors. This study intended to investigate the association of MMP3, MMP14, and...

    Authors: Yanling Yin, Yu Zhang, Xiaobo Zhang, Qi Zhang, Jiachen Wang, Tian Yang, Chen Liang, Wu Li, Jie Liu, Xiaojuan Ma, Jinwei Duan, Wenzhen Shi and Ye Tian
    Citation: BMC Medical Genomics 2023 16:297
    Content type: Research Published on:

  32. The Interferon-induced protein with tetratricopeptide repeat (IFIT) family, IFIT1/2/3/5, play an important role in different tumors progression. However, the prognosis significance and biological role of IFIT ...

    Authors: YiFan Zhao, Yi Zhang, WenYi Lu, Rui Sun, RuiTing Guo, XinPing Cao, Xingzhong Liu, Cuicui Lyu and MingFeng Zhao
    Citation: BMC Medical Genomics 2023 16:296
    Content type: Research Published on:

  33. Histone deacetylase (HDAC) inhibitors have enormous therapeutic potential as effective epigenetic regulators, and now with the focus on the selective HDAC6 inhibitor in ongoing clinical trials, more advantages...

    Authors: Jingjing Pu, Ting Liu, Amit Sharma and Ingo G. H. Schmidt-Wolf
    Citation: BMC Medical Genomics 2023 16:295
    Content type: Comment Published on:

  34. Low-pass genome sequencing (LP GS) has shown distinct advantages over traditional methods for the detection of mosaicism. However, no study has systematically evaluated the accuracy of LP GS in the detection o...

    Authors: Yanqiu Liu, Shengju Hao, Xueqin Guo, Linlin Fan, Zhihong Qiao, Yaoshen Wang, Xiaoli Wang, Jianfen man, Lina Wang, Xiaoming Wei, Huanhuan Peng, Zhiyu Peng, Yan Sun and Lijie Song
    Citation: BMC Medical Genomics 2023 16:294
    Content type: Research Published on:

  36. This study reported the first case of Kohlschütter-Tönz syndrome (KTS) in China and reviewed the literature of the reported cases.

    Authors: Linxue Meng, Dishu Huang, Lingling Xie, Xiaojie Song, Hanyu Luo, Jianxiong Gui, Ran Ding, Xiaofang Zhang and Li Jiang
    Citation: BMC Medical Genomics 2023 16:292
    Content type: Research Published on:

  37. Biallelic loss-of-function variants in WWOX cause WWOX-related epileptic encephalopathy (WOREE syndrome), which has been reported in 60 affected individuals to date. In this study, we report on an affected ind...

    Authors: Xing-sheng Dong, Xiao-jun Wen, Sheng Zhang, De-gang Wang, Yi Xiong and Zhi-ming Li
    Citation: BMC Medical Genomics 2023 16:291
    Content type: Research Published on:

  38. Individuals diagnosed with Fanconi anemia (FA), an uncommon disorder characterized by chromosomal instability affecting the FA signaling pathway, exhibit heightened vulnerability to the onset of myelodysplasti...

    Authors: Lixian Chang, Li Zhang, Beibei Zhao, Xuelian Cheng, Yang Wan, Ranran Zhang, Weiping Yuan, Xingjie Gao and Xiaofan Zhu
    Citation: BMC Medical Genomics 2023 16:290
    Content type: Research Published on:

  39. Small bowel cancer (SBC) is a very rare solid malignancy. Consequently, compared with other malignant gastrointestinal tumors, our knowledge regarding SBC, specifically its molecular attributes, remains limite...

    Authors: Chengmin Shi, Junrui Ma, Tong Zhang, Yanqiang Shi, Weiming Duan, Depei Huang, Hushan Zhang and Yujian Zeng
    Citation: BMC Medical Genomics 2023 16:289
    Content type: Research Published on:

  40. Chronic inflammation causes bone destruction in middle ear cholesteatomas (MECs). However, the causes of their neoplastic features remain unknown. The present study demonstrated for the first time that neoplas...

    Authors: Chisei Satoh, Koh-ichiro Yoshiura, Hiroyuki Mishima, Haruo Yoshida, Haruo Takahashi and Yoshihiko Kumai
    Citation: BMC Medical Genomics 2023 16:288
    Content type: Research Published on:

  42. Complete trisomy 22 is a rare chromosomal condition that is incompatible with life. However, mosaic trisomy 22 usually has prolonged survival compatibility and may present a good prognosis depending on the tis...

    Authors: Aline Nardelli, Larissa Valéria Laskoski, Andressa Fernanda Luiz, Maruhen Amir Datsch Silveira and Luciana Paula Grégio d’Arce
    Citation: BMC Medical Genomics 2023 16:286
    Content type: Case Report Published on:

  43. Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common autosomal dominant genetic diseases. Whole exome sequencing (WES) is a routine tool for diagnostic confirmation of genetic disease...

    Authors: Peiwen Xu, Lijuan Wang, Jing Li, Sexin Huang, Ming Gao, Ranran Kang, Jie Li, Hongqiang Xie, Xiaowei Liu, Junhao Yan, Xuan Gao and Yuan Gao
    Citation: BMC Medical Genomics 2023 16:285
    Content type: Research Published on:

  44. Deep vein thrombosis (DVT) is the formation of a blood clot in a deep vein. DVT can lead to a venous thromboembolism (VTE), the combined term for DVT and pulmonary embolism, a leading cause of death and disabi...

    Authors: Andrei-Emil Constantinescu, Caroline J. Bull, Lucy J. Goudswaard, Jie Zheng, Benjamin Elsworth, Nicholas J. Timpson, Samantha F. Moore, Ingeborg Hers and Emma E. Vincent
    Citation: BMC Medical Genomics 2023 16:284
    Content type: Research Published on:

  46. 1P36 deletion syndrome is recognized as the most common terminal microdeletion syndrome in humans, characterized by early developmental delay and consequent intellectual disability, seizure disorder, and disti...

    Authors: Huanhuan Yang, Jun Huang, Hao Zheng, Yunfan Zhang, Yuanzhen Zhang, Wei Liu, Jinrong Wu, Xiaobin Chen, Jinfeng Lin, Yanna Ni and Xiaojing Nie
    Citation: BMC Medical Genomics 2023 16:282
    Content type: Case Report Published on:

  47. Elevated triglyceride (TG) levels are a heritable and modifiable risk factor for cardiovascular disease and have well-established associations with common genetic variation captured in a polygenic risk score (...

    Authors: Shengjie Ying, Tracy Heung, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Yue Yin, Christina Blagojevic, Zhaolei Zhang, Robert A. Hegele, Ryan K. C. Yuen and Anne S. Bassett
    Citation: BMC Medical Genomics 2023 16:281
    Content type: Research Published on:

    The Correction to this article has been published in BMC Medical Genomics 2023 16:302

  48. Trabecular meshwork (TM) dysfunction-induced elevation of intraocular pressure has been identified as the main risk factor of irreversible optic nerve injury in Primary open‑angle glaucoma (POAG). Increasing e...

    Authors: Xiaoyu Zhou, Feng Zhang, Xinyue Zhang, Dengming Zhou, Yang Zhao, Baihua Chen and Xuanchu Duan
    Citation: BMC Medical Genomics 2023 16:280
    Content type: Research Published on:

  49. Perrault Syndrome (PRLTS) is a rare, autosomal recessive disorder that presents with bilateral sensorineural hearing loss in all patients and gonadal dysfunction in females. It has been linked to variants in CLPP

    Authors: Hannah E. Munson, Lenika De Simone, Abigail Schwaede, Avanti Bhatia, Divakar S. Mithal, Nancy Young, Nancy Kuntz and Vamshi K. Rao
    Citation: BMC Medical Genomics 2023 16:278
    Content type: Case report Published on:

  50. The pathogenesis of rheumatoid arthritis (RA) is an immune imbalance, in which various inflammatory immune cells and pro-inflammatory factors are involved. Interleukin-17 (IL-17), a potent pro-inflammatory cyt...

    Authors: Rong Zhao, Yi-wen Zhang, Jia-yuan Yao, Jun Qiao, Shan Song, Sheng-xiao Zhang, Cai-hong Wang and Xiao-feng Li
    Citation: BMC Medical Genomics 2023 16:277
    Content type: Research Published on:
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BMC Medical Genomics

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