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  1. Treatment options for hepatocellular carcinoma (HCC) are limited, and overall survival is poor. Despite the high frequency of this malignoma, its basic disease mechanisms are poorly understood. Therefore, the ...

    Authors: Tatiana Meier, Max Timm, Matteo Montani and Ludwig Wilkens
    Citation: BMC Medical Genomics 2021 14:41
  2. Degeneration of intervertebral disc is a major cause of lower back pain and neck pain. Studies have tried to unveil the regulatory network using either transcriptomic or proteomic analysis. However, neither ha...

    Authors: Chen Xu, Shengchang Luo, Leixin Wei, Huiqiao Wu, Wei Gu, Wenchao Zhou, Baifeng Sun, Bo Hu, Hongyu Zhou, Yang Liu, Huajiang Chen, Xiaojian Ye and Wen Yuan
    Citation: BMC Medical Genomics 2021 14:40
  3. Acute myeloid leukemia (AML) is biologically heterogeneous diseases with adverse prognosis. This study was conducted to find prognostic biomarkers that could effectively classify AML patients and provide guida...

    Authors: Yanli Lai, Guifang OuYang, Lixia Sheng, Yanli Zhang, Binbin Lai and Miao Zhou
    Citation: BMC Medical Genomics 2021 14:39
  4. Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic and non-syndromic hearing loss. Here, we investigate...

    Authors: Hossein Fahimi, Samira Behroozi, Sadaf Noavar and Farshid Parvini
    Citation: BMC Medical Genomics 2021 14:37
  5. Colon cancer (CC) is one of the most common malignant tumors, while Parkinson’s disease (PD) is the second most common neurodegenerative disorder. Recent accumulating evidence indicates that these two diseases...

    Authors: Suyan Tian, Mingyue Zhang and Zhiming Ma
    Citation: BMC Medical Genomics 2021 14:36
  6. Single-cell sequencing technologies provide unprecedented opportunities to deconvolve the genomic, transcriptomic or epigenomic heterogeneity of complex biological systems. Its application in samples from xeno...

    Authors: Stefano Cheloni, Roman Hillje, Lucilla Luzi, Pier Giuseppe Pelicci and Elena Gatti
    Citation: BMC Medical Genomics 2021 14:34
  7. Mutations in the PRKAG2 gene encoding the 5′ Adenosine Monophosphate-Activated Protein Kinase (AMPK), specifically in its γ2 regulatory subunit, lead to Glycogen storage disease of heart, fetal congenital diso...

    Authors: Zahra Beyzaei, Fatih Ezgu, Bita Geramizadeh, Alireza Alborzi and Alireza Shojazadeh
    Citation: BMC Medical Genomics 2021 14:33
  8. Peripheral immune response has been revealed to play a critical role in proliferative vitreoretinopathy (PVR). However, the reliable immune-related factors that are acting as prognostic indicators or therapeut...

    Authors: Yao Ni, Fangyuan Liu, Xiao Hu, Yingyan Qin and Zhaotian Zhang
    Citation: BMC Medical Genomics 2021 14:30
  9. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Zhongzhong Chen, Yunping Lei, Xuanye Cao, Yufang Zheng, Fang Wang, Yihua Bao, Rui Peng, Richard H. Finnell, Ting Zhang and Hongyan Wang
    Citation: BMC Medical Genomics 2021 14:29

    The original article was published in BMC Medical Genomics 2018 11:38

  10. Genetic factors play an important role in susceptibility to methamphetamine dependency. In this line, protein that interact with C-kinase-1 (PICK1) and brain-derived neurotrophic factor (BDNF) genes are linked to...

    Authors: Amir Tajbakhsh, Maliheh Alimardani, Mahla Asghari, Soheila Abedini, Sohrab Saghafi Khadem, Abolfazl Nesaei Bajestani, Forough Alipoor, Maryam Alidoust, Amir Savardashtaki, Peyman Hashemian and Alireza Pasdar
    Citation: BMC Medical Genomics 2021 14:27
  11. Mutations in lysyl-tRNA synthetase (KARS1), an enzyme that charges tRNA with the amino acid lysine in both the cytoplasm and mitochondria, have been associated thus far with autosomal recessive Charcot–Marie–Toot...

    Authors: Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli and Sabrina Giglio
    Citation: BMC Medical Genomics 2021 14:25
  12. Previous studies have revealed that mutations of Spalt Like Transcription Factor 1 (SALL1) are responsible for Townes-Brocks syndrome (TBS), a rare genetic disorder that is characterized by an imperforate anus, d...

    Authors: Guangxian Yang, Yi Yin, Zhiping Tan, Jian Liu, Xicheng Deng and Yifeng Yang
    Citation: BMC Medical Genomics 2021 14:24
  13. In biomedical applications, valuable data is often split between owners who cannot openly share the data because of privacy regulations and concerns. Training machine learning models on the joint data without ...

    Authors: Martine De Cock, Rafael Dowsley, Anderson C. A. Nascimento, Davis Railsback, Jianwei Shen and Ariel Todoki
    Citation: BMC Medical Genomics 2021 14:23
  14. Pure red cell aplasia (PRCA) and large granular lymphocytic leukaemia (LGLL) are very rare complications of autoimmune polyendocrine syndrome type 1 (APS1). Here, we report a case of APS1 with PRCA and LGLL. P...

    Authors: Jing Ruan, Xuan Wang, Xianyong Jiang and Miao Chen
    Citation: BMC Medical Genomics 2021 14:22
  15. Hirschsprung disease (HSCR) is a hereditary defect, which is characterized by the absence of enteric ganglia and is frequently concurrent with Hirschsprung-associated enterocolitis (HAEC). However, the pathoge...

    Authors: Hong Zhang, Jing-Lu Zhao, Yi Zheng, Xiao-Li Xie, Li-Hua Huang, Le Li, Yun Zhu, Li-Feng Lu, Tu-Qun Hu, Wei Zhong and Qiu-Ming He
    Citation: BMC Medical Genomics 2021 14:21
  16. To make the right treatment decisions about colorectal cancer (CRC) patients reliable predictive and prognostic data are needed. However, in many cases this data is not enough. Some studies suggest that LRIG1 gen...

    Authors: Maryam Bakherad, Mahdieh Salimi, Seyed Abdolhamid Angaji, Frouzandeh Mahjoubi and Tayebeh Majidizadeh
    Citation: BMC Medical Genomics 2021 14:20
  17. Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology an...

    Authors: Meiying Cai, Na Lin, Xuemei Chen, Meimei Fu, Nan Guo, Liangpu Xu and Hailong Huang
    Citation: BMC Medical Genomics 2021 14:19
  18. Type 2 diabetes complications cause a serious emotional and economical burden to patients and healthcare systems globally. Management of both acute and chronic complications of diabetes, which dramatically imp...

    Authors: Monta Ustinova, Raitis Peculis, Raimonds Rescenko, Vita Rovite, Linda Zaharenko, Ilze Elbere, Laila Silamikele, Ilze Konrade, Jelizaveta Sokolovska, Valdis Pirags and Janis Klovins
    Citation: BMC Medical Genomics 2021 14:18
  19. Tandem repeats are highly mutable and contribute to the development of human disease by a variety of mechanisms. It is difficult to predict which tandem repeats may cause a disease. One hypothesis is that chan...

    Authors: Satomi Mitsuhashi, Martin C. Frith and Naomichi Matsumoto
    Citation: BMC Medical Genomics 2021 14:17
  20. The opioid use disorder and overdose crisis in the United States affects public health as well as social and economic welfare. While several genetic and non-genetic risk factors for opioid use disorder have be...

    Authors: Jessica Heil, Stefan Zajic, Emily Albertson, Andrew Brangan, Iris Jones, Wendy Roberts, Michael Sabia, Elliot Bodofsky, Alissa Resch, Rachel Rafeq, Rachel Haroz, Russell Buono, Thomas N. Ferraro, Laura Scheinfeldt, Matthew Salzman and Kaitlan Baston
    Citation: BMC Medical Genomics 2021 14:16
  21. Internalizing mental disorders (IMDs) (depression, anxiety and post-traumatic stress disorder) have been associated with accelerated telomere length (TL) attrition; however, this association has not been inves...

    Authors: Allan Kalungi, Eugene Kinyanda, Jacqueline S. Womersley, Moses L. Joloba, Wilber Ssembajjwe, Rebecca N. Nsubuga, Pontiano Kaleebu, Jonathan Levin, Martin Kidd, Soraya Seedat and Sian M. J. Hemmings
    Citation: BMC Medical Genomics 2021 14:15
  22. DNA methylation of Cadherin 13 (CDH13), a tumor suppressor gene is associated with gene repression and carcinogenesis. We determined the relation of dietary fat and sex with CDH13 cg02263260 methylation in Tai...

    Authors: Bei-Hao Shiu, Wen-Yu Lu, Disline Manli Tantoh, Ming-Chih Chou, Oswald Ndi Nfor, Chi-Chou Huang and Yung-Po Liaw
    Citation: BMC Medical Genomics 2021 14:13
  23. Familial progressive hyper- and hypopigmentation (FPHH, MIM 145250) is a rare hereditary skin disorder that is predominantly characterized by progressive, diffuse, partly blotchy hyperpigmented lesions intermi...

    Authors: Jianbo Wang, Weisheng Li, Naihui Zhou, Jingliu Liu, Shoumin Zhang, Xueli Li, Zhenlu Li, Ziliang Yang, Miao Sun and Min Li
    Citation: BMC Medical Genomics 2021 14:12
  24. Elevated triglycerides (TG) are associated with, and may be causal for, cardiovascular disease (CVD), and co-morbidities such as type II diabetes and metabolic syndrome. Pathogenic variants in APOA5 and APOC3 as ...

    Authors: Elisabeth A. Rosenthal, David R. Crosslin, Adam S. Gordon, David S. Carrell, Ian B. Stanaway, Eric B. Larson, Jane Grafton, Wei-Qi Wei, Joshua C. Denny, Qi-Ping Feng, Amy S. Shah, Amy C. Sturm, Marylyn D. Ritchie, Jennifer A. Pacheco, Hakon Hakonarson, Laura J. Rasmussen-Torvik…
    Citation: BMC Medical Genomics 2021 14:11
  25. Genetic testing allows patients and clinicians to understand the risk of hereditary diseases. By testing early, individuals can make informed medical decisions about management which may minimize the risk of d...

    Authors: Chethan Jujjavarapu, Jeevan Anandasakaran, Laura M. Amendola, Cameron Haas, Elizabeth Zampino, Nora B. Henrikson, Gail P. Jarvik and Sean D. Mooney
    Citation: BMC Medical Genomics 2021 14:10
  26. Corneal dystrophies (CDs) are a heterogeneous group of bilateral, genetically determined, noninflammatory bilateral corneal diseases that are usually limited to the cornea. CD is characterized by a large varia...

    Authors: Yahya Benbouchta, Imane Cherkaoui Jaouad, Habiba Tazi, Hamza Elorch, Mouna Ouhenach, Abdelali Zrhidri, Khalid Sadki, Abdelaziz Sefiani, Jaber Lyahyai and Amina Berraho
    Citation: BMC Medical Genomics 2021 14:9
  27. The abnormal expression of activating transcription factor 3 (ATF3), a member of the basic leucine zipper (bZIP) family of transcription factors, is associated with carcinogenesis. However, the expression patt...

    Authors: Lijuan Li, Shaohua Song, Xiaoling Fang and Donglin Cao
    Citation: BMC Medical Genomics 2021 14:8
  28. This study is to explore the relationship between the ZBRK1/ZNF350 (Zinc finger and BRCA1-interacting protein with KRAB domain-1; also known as zinc-finger protein 350) gene polymorphism and early-onset breast ca...

    Authors: Jun Wu, Alibiati Eni, Eliar Roussuri and Binlin Ma
    Citation: BMC Medical Genomics 2021 14:7
  29. In addition to ovarian and breast cancers, loss-of-function mutations in BRCA1 and BRCA2 genes are also linked to an increased risk of pancreatic cancer, with ~ 4 to 7% of pancreatic cancer patients harboring ger...

    Authors: Deqiang Wang, Ruting Guan, Qing Tao, Sisi Liu, Man Yu and Xiaoqin Li
    Citation: BMC Medical Genomics 2021 14:6
  30. Preeclampsia (PE) is a pregnancy-related condition that affects both the infant and the mother. Although the role of various inflammatory molecules in PE has been demonstrated, the importance of pro-inflammato...

    Authors: Xiao Lang, Wei Liu, Yanyan Hou, Wenxia Zhao, Xingyu Yang, Lan Chen, Qi Yan and Weiwei Cheng
    Citation: BMC Medical Genomics 2021 14:5
  31. Congenital heart disease (CHD) is resulted from the interaction of genetic aberration and environmental factors. Imprinted genes, which are regulated by epigenetic modifications, are essential for the normal e...

    Authors: Shaoyan Chang, Yubo Wang, Yu Xin, Shuangxing Wang, Yi Luo, Li Wang, Hui Zhang and Jia Li
    Citation: BMC Medical Genomics 2021 14:4
  32. In order to explore the pathophysiology underlying type 2 diabetes we examined the impact of gene variants associated with type 2 diabetes on circulating levels of glucagon during an oral glucose tolerance tes...

    Authors: Anna Jonsson, Sara E. Stinson, Signe S. Torekov, Tine D. Clausen, Kristine Færch, Louise Kelstrup, Niels Grarup, Elisabeth R. Mathiesen, Peter Damm, Daniel R. Witte, Marit E. Jørgensen, Oluf Pedersen, Jens Juul Holst and Torben Hansen
    Citation: BMC Medical Genomics 2021 14:3
  33. Hearing loss/deafness is a common otological disorder found in the Pakistani population due to the high prevalence of consanguineous unions, but the full range of genetic causes is still unknown.

    Authors: Ashfaque Ahmed, Meng Wang, Rizwan Khan, Abid Ali Shah, Hui Guo, Sajid Malik, Kun Xia and Zhengmao Hu
    Citation: BMC Medical Genomics 2021 14:2
  34. Variants in CDKN2B/CDKN2B-AS1 have been reported to modulate glaucoma risk in several GWAS across different populations. CDKN2B/CDKN2A encodes tumor suppressor proteins p16INK4A/p15INK4B which influences cell pro...

    Authors: Nanamika Thakur, Manu Kupani, Rashim Mannan, Archna Pruthi and Sanjana Mehrotra
    Citation: BMC Medical Genomics 2021 14:1
  35. Existing studies have demonstrated that the integrative analysis of histopathological images and genomic data can be used to better understand the onset and progression of many diseases, as well as identify ne...

    Authors: Siwen Xu, Zixiao Lu, Wei Shao, Christina Y. Yu, Jill L. Reiter, Qianjin Feng, Weixing Feng, Kun Huang and Yunlong Liu
    Citation: BMC Medical Genomics 2020 13(Suppl 11):195

    This article is part of a Supplement: Volume 13 Supplement 11

  36. Serum alpha-fetoprotein (AFP) is the approved serum marker for hepatocellular carcinoma (HCC) screening. However, not all HCC patients show high (≥ 20 ng/mL) serum AFP, and the molecular mechanisms of HCCs wit...

    Authors: Young-Joo Jin, Habtamu Minassie Aycheh, Seonggyun Han, John Chamberlin, Jaehang Shin, Seyoun Byun and Younghee Lee
    Citation: BMC Medical Genomics 2020 13(Suppl 11):194

    This article is part of a Supplement: Volume 13 Supplement 11

  37. Drug sensitivity prediction and drug responsive biomarker selection on high-throughput genomic data is a critical step in drug discovery. Many computational methods have been developed to serve this purpose in...

    Authors: Khandakar Tanvir Ahmed, Sunho Park, Qibing Jiang, Yunku Yeu, TaeHyun Hwang and Wei Zhang
    Citation: BMC Medical Genomics 2020 13(Suppl 11):193

    This article is part of a Supplement: Volume 13 Supplement 11

  38. Psychiatric disorders such as schizophrenia (SCZ), bipolar disorder (BIP), major depressive disorder (MDD), attention deficit-hyperactivity disorder (ADHD), and autism spectrum disorder (ASD) are often related...

    Authors: Yulin Dai, Timothy D. O’Brien, Guangsheng Pei, Zhongming Zhao and Peilin Jia
    Citation: BMC Medical Genomics 2020 13(Suppl 11):192

    This article is part of a Supplement: Volume 13 Supplement 11

  39. Understanding gene regulation is important but difficult. Elucidating tissue-specific gene regulation mechanism is even more challenging and requires gene co-expression network assembled from protein–protein i...

    Authors: Binze Li, Julian Dong, Jiaqi Yu, Yuqi Fan, Lulu Shang, Xiang Zhou and Yongsheng Bai
    Citation: BMC Medical Genomics 2020 13(Suppl 11):191

    This article is part of a Supplement: Volume 13 Supplement 11

  40. Renal cell carcinoma (RCC) is a complex disease and is comprised of several histological subtypes, the most frequent of which are clear cell renal cell carcinoma (ccRCC), papillary renal cell carcinoma (PRCC) ...

    Authors: Xiaohui Zhan, Yusong Liu, Christina Y. Yu, Tian-Fu Wang, Jie Zhang, Dong Ni and Kun Huang
    Citation: BMC Medical Genomics 2020 13(Suppl 11):190

    This article is part of a Supplement: Volume 13 Supplement 11

  41. This editorial summarizes eight research articles included in this supplement issue for the 2020 International Conference on Intelligent Biology and Medicine (ICIBM 2020) conference, that was held on August 9-...

    Authors: Xinghua Shi, Zhongming Zhao, Kai Wang and Li Shen
    Citation: BMC Medical Genomics 2020 13(Suppl 11):189

    This article is part of a Supplement: Volume 13 Supplement 11

  42. Linear nevus sebaceous syndrome (LNSS) is a rare genetic disease characterized by large linear sebaceous nevus typically on the face, scalp, or neck. LNSS could be accompanied by multisystem disorders includin...

    Authors: Chun Pan, Xiaowei Zhou, Anlan Hong, Fang Fang and Yan Wang
    Citation: BMC Medical Genomics 2020 13:188

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