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  1. Lung cancer is a highly prevalent malignancy worldwide and is associated with high mortality rates. While the involvement of endoplasmic reticulum (ER) stress in the development of lung adenocarcinoma (LUAD) h...

    Authors: Ying Liu, Wei Lin, Hongyan Qian, Ying Yang, Xuan Zhou, Chen Wu, Xiaoxia Pan, Yuan Liu and Gaoren Wang
    Citation: BMC Medical Genomics 2024 17:12
  2. It has been reported that Mannose-binding lectin 2 (MBL2) gene polymorphisms and expression levels are related to dilated cardiomyopathy (DCM). This study aimed to investigate the potential association between MB...

    Authors: Yujie Mao, Hong Wei, Yugang Gong, Lei Peng and Yu Chen
    Citation: BMC Medical Genomics 2024 17:11
  3. People with autosomal recessive disorders often were born without awareness of the carrier status of their parents. The American College of Medical Genetics and Genomics (ACMG) recommends screening 113 genes k...

    Authors: Wanna Chetruengchai, Prasit Phowthongkum and Vorasuk Shotelersuk
    Citation: BMC Medical Genomics 2024 17:9
  4. Type 2 diabetes mellitus (T2DM) is an established risk factor for acute ischemic stroke (AIS). Although there are reports on the correlation of diabetes and stroke, data on its pathogenesis is limited. This st...

    Authors: Yong He, Yang Bai, Qin Huang, Jian Xia and Jie Feng
    Citation: BMC Medical Genomics 2024 17:8
  5. Hepatoid adenocarcinoma (HAC) is rare in the urinary system, with only 7 reported cases in upper urinary tract. This report aimed to explore the genetic characteristics of ureteral HAC for first time, and to d...

    Authors: Mengxin Lu, Yueying Li, Dongliang Hu, Jingtian Yu, Hang Zheng and Tongzu Liu
    Citation: BMC Medical Genomics 2024 17:7
  6. Alzheimer’s disease (AD) is a progressive neurodegenerative disease that can cause dementia. We aim to screen out the hub genes involved in AD based on microarray datasets.

    Authors: Wenyuan Cao, Zhangge Ji, Shoulian Zhu, Mei Wang and Runming Sun
    Citation: BMC Medical Genomics 2024 17:6
  7. Osteoporosis is the most common metabolic bone disease in humans. Exploring the expression difference of iron metabolism-related genes in osteoporosis can provide a new target for diagnosis and treatment.

    Authors: Zutao Li, Jiangbo Xu, Shouyin Shi, Youlin Weng, Bin Guo, Lixin Che and Jungang Sun
    Citation: BMC Medical Genomics 2024 17:5
  8. Hereditary hearing loss is a highly heterogeneous disorder. This study aimed to identify the genetic cause of a Chinese family with autosomal recessive non-syndromic sensorineural hearing loss (ARNSHL).

    Authors: Kaifeng Zheng, Sheng Lin, Jian Gao, Shiguo Chen, Jindi Su, Zhiqiang Liu and Shan Duan
    Citation: BMC Medical Genomics 2024 17:4
  9. Lymphangiogenesis plays an important role in tumor progression and is significantly associated with tumor immune infiltration. However, the role and mechanisms of lymphangiogenesis in colorectal cancer (CRC) a...

    Authors: Hong Liu, Huiwen Shi and Yinggang Sun
    Citation: BMC Medical Genomics 2024 17:2
  10. CC chemokine receptors are responsible for regulating the tumor microenvironment (TME) and participating in carcinogenesis and tumor advancement. However, no functional study has investigated CC chemokine rece...

    Authors: Xinghe Liao, Yong Yang, Lihuan Wang, Zhiyuan Kong and Weiping Li
    Citation: BMC Medical Genomics 2024 17:1
  11. Psoriasis is a chronic, autoimmune, papulosquamous skin disorder, characterized by the formation of drop-like papules and silvery-white plaques surrounded by reddened or inflamed skin, existing predominantly o...

    Authors: Saima Saleem, Zunaira Imran, Azam Samdani, Bahram Khoso, Sitwat Zehra and Abid Azhar
    Citation: BMC Medical Genomics 2023 16:335
  12. Dilated cardiomyopathy (DCM) is a major cause of sudden cardiac death and heart failure. Up to 50% of all DCM cases have a genetic background, with variants in over 250 genes reported in association with DCM. ...

    Authors: Serwa Ghasemi, Mohammad Mahdavi, Majid Maleki, Iman Salahshourifar and Samira Kalayinia
    Citation: BMC Medical Genomics 2023 16:334
  13. Cystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9. Cystinuria can be classified into three forms b...

    Authors: Danhua Liu, Yongli Zhao, Xia Xue, Xinyue Hou, Hongen Xu, Xinghua Zhao, Yongan Tian, Wenxue Tang, Jiancheng Guo and Changbao Xu
    Citation: BMC Medical Genomics 2023 16:333
  14. Several genome-wide association studies (GWAS) have been performed to identify variants related to chronic diseases. Somatic variants in cancer tissues are associated with cancer development and prognosis. Exp...

    Authors: Soohyun Jeon, Chaewon Park, Jineui Kim, Jung Hoon Lee, Sung-yune Joe, Young Kyung Ko and Jeong-An Gim
    Citation: BMC Medical Genomics 2023 16:332
  15. Osteoporosis is a systemic, multifactorial disorder of bone mineralization. Many factors contributing to the development of osteoporosis have been identified so far, including gender, age, nutrition, lifestyle...

    Authors: Ilya S Dantsev, Mariia A Parfenenko, Gulnara M Radzhabova and Ekaterina A Nikolaeva
    Citation: BMC Medical Genomics 2023 16:329
  16. 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

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

  17. Colorectal cancer (CRC) is a prevalent malignancy worldwide, with increasing incidence and mortality rates. Although treatment options have improved, CRC remains a leading cause of death due to metastasis. Ear...

    Authors: Huimin Liu, Xingxing Wu, Dandan Wang, Quanxi Li, Xin Zhang and Liang Xu
    Citation: BMC Medical Genomics 2023 16:327
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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

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