Skip to main content

Articles

Page 1 of 13

  1. Myocardial infarction (MI), a common type of coronary heart disease, is the major cause of morbidity and mortality around the world. Chemokine-mediated inflammatory cell infiltration and local inflammatory dam...

    Authors: Fang-Qian Liang, Jing-Yuan Gao and Ji-Wei Liu

    Citation: Human Genomics 2021 15:15

    Content type: Primary research

    Published on:

  2. Cell-free DNA is known to be a mixture of DNA fragments originating from various tissue types and organs of the human body and can be utilized for several clinical applications and potentially more to be creat...

    Authors: Jianjiang Zhu, Feng Hui, Xuequn Mao, Shaoqin Zhang, Hong Qi and Yang Du

    Citation: Human Genomics 2021 15:14

    Content type: Primary research

    Published on:

  3. This letter is the Human Genome Organisation’s summary reaction to the 2020 COVID-19 pandemic. It identifies key areas for genomics research, and areas in which genomic scientists can contribute to a global re...

    Authors: Benjamin Capps, Yann Joly, John Mulvihill and Won Bok Lee

    Citation: Human Genomics 2021 15:12

    Content type: Letter to the Editor

    Published on:

  4. Complex developmental encephalopathy syndromes might be the consequence of unknown genetic alterations that are likely to contribute to the full neurological phenotype as a consequence of pathogenic gene combi...

    Authors: Juan L. García-Hernández, Luis A. Corchete, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Carmen Fons and Pedro A. Lazo

    Citation: Human Genomics 2021 15:11

    Content type: Primary research

    Published on:

  5. The severity of coronavirus disease 2019 (COVID-19) caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is highly heterogeneous. Studies have reported that males and some ethnic groups a...

    Authors: Jianchang Hu, Cai Li, Shiying Wang, Ting Li and Heping Zhang

    Citation: Human Genomics 2021 15:10

    Content type: Primary research

    Published on:

  6. RNA sequencing (RNA-Seq) has been widely applied in oncology for monitoring transcriptome changes. However, the emerging problem that high variation of gene expression levels caused by tumor heterogeneity may ...

    Authors: Weitong Cui, Huaru Xue, Lei Wei, Jinghua Jin, Xuewen Tian and Qinglu Wang

    Citation: Human Genomics 2021 15:7

    Content type: Primary research

    Published on:

  7. Autoimmune hepatitis (AIH) is a rare chronic progressive liver disease with autoimmune features. It mainly affects middle-aged women. AIH is occasionally complicated with liver cirrhosis that worsens the progn...

    Authors: Takashi Higuchi, Shomi Oka, Hiroshi Furukawa, Shigeto Tohma, Hiroshi Yatsuhashi and Kiyoshi Migita

    Citation: Human Genomics 2021 15:6

    Content type: Review

    Published on:

  8. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Karolina Luczkowska, Caroline Stekelenburg, Frédérique Sloan-Béna, Emmanuelle Ranza, Giacomo Gastaldi, Valérie Schwitzgebel and Pierre Maechler

    Citation: Human Genomics 2021 15:4

    Content type: Correction

    Published on:

    The original article was published in Human Genomics 2020 14:9

  9. Functional disruptions by large germline genomic structural variants in susceptible genes are known risks for cancer. We used deletion structural variants (DSVs) generated from germline whole-genome sequencing...

    Authors: Peng-Chan Lin, Hui-O Chen, Chih-Jung Lee, Yu-Min Yeh, Meng-Ru Shen and Jung-Hsien Chiang

    Citation: Human Genomics 2021 15:3

    Content type: Primary research

    Published on:

  10. SARS-CoV-2 has spread rapidly across the world and is negatively impacting the global human population. COVID-19 patients display a wide variety of symptoms and clinical outcomes, including those attributed to...

    Authors: Manci Li, Luca Schifanella and Peter A. Larsen

    Citation: Human Genomics 2021 15:2

    Content type: Review

    Published on:

  11. In this paper, we introduce a network machine learning method to identify potential bioactive anti-COVID-19 molecules in foods based on their capacity to target the SARS-CoV-2-host gene-gene (protein-protein) ...

    Authors: Ivan Laponogov, Guadalupe Gonzalez, Madelen Shepherd, Ahad Qureshi, Dennis Veselkov, Georgia Charkoftaki, Vasilis Vasiliou, Jozef Youssef, Reza Mirnezami, Michael Bronstein and Kirill Veselkov

    Citation: Human Genomics 2021 15:1

    Content type: Primary research

    Published on:

  12. The COVID-19 pandemic is sweeping the world and will feature prominently in all our lives for months and most likely for years to come. We review here the current state 6 months into the declared pandemic. Spe...

    Authors: Giuseppe Novelli, Michela Biancolella, Ruty Mehrian-Shai, Caroline Erickson, Krystal J. Godri Pollitt, Vasilis Vasiliou, Jessica Watt and Juergen K. V. Reichardt

    Citation: Human Genomics 2020 14:48

    Content type: Review

    Published on:

  13. It is crucial to use the wealth of information emerging from the ongoing SARS-CoV-2 pandemic and confront COVID-19 with a rational approach. There are proactive steps to prevent and fight COVID-19. Management ...

    Authors: Ruty Mehrian-Shai

    Citation: Human Genomics 2020 14:47

    Content type: Opinion article

    Published on:

  14. Several studies have stated that TNF-α participates in the pathogenesis of scleritis, but also in several systemic autoimmune diseases and vasculitis, of which some are associated with scleritis. Earlier GWAS ...

    Authors: Yingnan Gao, Liping Du, Fuzhen Li, Jiadong Ding, Geng Li, Qingfeng Cao, Na Li, Guannan Su, Aize Kijlstra and Peizeng Yang

    Citation: Human Genomics 2020 14:46

    Content type: Primary research

    Published on:

  15. Germline variants of ten keratin genes (K1, K2, K5, K6A, K6B, K9, K10, K14, K16, and K17) have been reported for causing different types of genodermatoses with an autosomal dominant mode of inheritance. Among all...

    Authors: Yuyi Ying, Lu Lu, Santasree Banerjee, Lizhen Xu, Qiang Zhao, Hao Wu, Ruiqi Li, Xiao Xu, Hua Yu, Dante Neculai, Yongmei Xi, Fan Yang, Jiale Qin and Chen Li

    Citation: Human Genomics 2020 14:45

    Content type: Primary research

    Published on:

  16. Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. Epilepsy is affected by many factors, approximately 20–30% of cases are caused by acquired conditions, but in the re...

    Authors: Linlin Zhang, Jinshuang Gao, Hailiang Liu, Yuan Tian, Xiaoli Zhang, Wei Lei, Ying Li, Yaqing Guo, Haiyang Yu, Erfeng Yuan, Lisi Liang, Shihong Cui and Xiaoan Zhang

    Citation: Human Genomics 2020 14:44

    Content type: Primary research

    Published on:

  17. Adult bone marrow-derived mesenchymal stem cells (BM-MSCs) are multipotent stem cells that can differentiate into three lineages. They are suitable sources for cell-based therapy and regenerative medicine appl...

    Authors: Fatemeh Khodabandehloo, Sara Taleahmad, Reza Aflatoonian, Farzad Rajaei, Zahra Zandieh, Marjan Nassiri-Asl and Mohamadreza Baghaban Eslaminejad

    Citation: Human Genomics 2020 14:43

    Content type: Primary research

    Published on:

  18. Mitochondrial folate enzyme ALDH1L2 (aldehyde dehydrogenase 1 family member L2) converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 simultaneously producing NADPH. We have recently reported that the la...

    Authors: Natalia I. Krupenko, Jaspreet Sharma, Peter Pediaditakis, Kristi L. Helke, Madeline S. Hall, Xiuxia Du, Susan Sumner and Sergey A. Krupenko

    Citation: Human Genomics 2020 14:41

    Content type: Primary research

    Published on:

  19. The emergence of the novel coronavirus in Wuhan, Hubei Province, China, in December 2019 marked the synchronization of the world to a peculiar clock that is counting infected cases and deaths instead of hours ...

    Authors: Cleo Anastassopoulou, Zoi Gkizarioti, George P. Patrinos and Athanasios Tsakris

    Citation: Human Genomics 2020 14:40

    Content type: Review

    Published on:

  20. The expression of the human β-like globin genes follows a well-orchestrated developmental pattern, undergoing two essential switches, the first one during the first weeks of gestation (ε to γ), and the second ...

    Authors: Petros Papadopoulos, Athanassia Kafasi, Iris M. De Cuyper, Vilma Barroca, Daniel Lewandowski, Zahra Kadri, Martijn Veldthuis, Jeffrey Berghuis, Nynke Gillemans, Celina María Benavente Cuesta, Frank G. Grosveld, Rob van Zwieten, Sjaak Philipsen, Muriel Vernet, Laura Gutiérrez and George P. Patrinos

    Citation: Human Genomics 2020 14:39

    Content type: Primary research

    Published on:

  21. MicroRNAs (miRNAs) play important roles in the regulation of gene expression at the posttranscriptional level and are involved in human carcinogenesis. The aim of the current study was to investigate the assoc...

    Authors: Moqin Qiu, Yingchun Liu, Qiuling Lin, Zihan Zhou, Yanji Jiang, Rongrui Huo, Xiumei Liang, Xiangyuan Yu, Ji Cao, Xianguo Zhou and Hongping Yu

    Citation: Human Genomics 2020 14:38

    Content type: Primary research

    Published on:

  22. Disparities across racial and ethnic groups are present for a range of health outcomes. In this opinion piece, we consider the origin of racial and ethnic groupings, a history that highlights the sociopolitica...

    Authors: Tesfaye B. Mersha and Andrew F. Beck

    Citation: Human Genomics 2020 14:37

    Content type: Opinion article

    Published on:

    The Correction to this article has been published in Human Genomics 2020 14:42

  23. MicroRNAs are ~ 22-nucleotide-long biological modifiers that act as the post-transcriptional modulator of gene expression. Some of them are identified to be embedded within the introns of protein-coding genes,...

    Authors: Abul Bashar Mir Md. Khademul Islam, Eusra Mohammad and Md. Abdullah-Al-Kamran Khan

    Citation: Human Genomics 2020 14:34

    Content type: Primary research

    Published on:

  24. Several genome-wide association studies have identified single-nucleotide polymorphisms (SNPs), such as rs4409766, rs1004467, and rs3824755 in CYP17A1 and rs2021783 in CYP21A2, as new hypertension susceptibility ...

    Authors: Bo Hou, Xuewen Jia, Ziwen Deng, Xin Liu, Huitang Liu, Haichu Yu and Shiguo Liu

    Citation: Human Genomics 2020 14:33

    Content type: Primary research

    Published on:

  25. In order to be able to provide accurate genetic counseling to patients with Autism Spectrum Disorder (ASD), it is crucial to identify correlations between heterogeneous phenotypes and genetic alterations. Amon...

    Authors: Laurie-Anne Sapey-Triomphe, Julie Reversat, Gaëtan Lesca, Nicolas Chatron, Marina Bussa, Sylvie Mazoyer, Christina Schmitz, Sandrine Sonié and Patrick Edery

    Citation: Human Genomics 2020 14:32

    Content type: Primary research

    Published on:

  26. Genetic factors such as single-nucleotide polymorphisms (SNPs) play a key role in the development of postoperative nausea and vomiting (PONV). However, previous findings are not widely applicable to different ...

    Authors: Shigekazu Sugino, Daisuke Konno, Yosuke Kawai, Masao Nagasaki, Yasuhiro Endo, Tomo Hayase, Misako Yamazaki-Higuchi, Yukihiro Kumeta, Shunsuke Tachibana, Katsuhiko Saito, Jun Suzuki, Kanta Kido, Nahoko Kurosawa, Akiyoshi Namiki and Masanori Yamauchi

    Citation: Human Genomics 2020 14:31

    Content type: Primary research

    Published on:

  27. The COVID-19 pandemic has strengthened the interest in the biological mechanisms underlying the complex interplay between infectious agents and the human host. The spectrum of phenotypes associated with the SA...

    Authors: Emilio Di Maria, Andrea Latini, Paola Borgiani and Giuseppe Novelli

    Citation: Human Genomics 2020 14:30

    Content type: Review

    Published on:

  28. Coronaviruses (CoV) are a large family of viruses that are common in humans and many animal species. Animal coronaviruses rarely infect humans with the exceptions of the Middle East respiratory syndrome (

    Authors: Antonio Novelli, Michela Biancolella, Paola Borgiani, Dario Cocciadiferro, Vito Luigi Colona, Maria Rosaria D’Apice, Paola Rogliani, Salvatore Zaffina, Francesca Leonardis, Andrea Campana, Massimiliano Raponi, Massimo Andreoni, Sandro Grelli and Giuseppe Novelli

    Citation: Human Genomics 2020 14:29

    Content type: Primary research

    Published on:

  29. Mitochondrial diseases (MDs) are a group of clinically and genetically heterogeneous disorders characterized by defects in oxidative phosphorylation. Since clinical phenotypes of MDs may be non-specific, genet...

    Authors: Mandy H.Y. Tsang, Anna K.Y. Kwong, Kate L.S. Chan, Jasmine L.F. Fung, Mullin H.C. Yu, Christopher C.Y. Mak, Kit-San Yeung, Richard J.T. Rodenburg, Jan A.M. Smeitink, Rachel Chan, Thomas Tsoi, Joannie Hui, Shelia S.N Wong, Shuk-Mui Tai, Victor C.M. Chan, Che-Kwan Ma…

    Citation: Human Genomics 2020 14:28

    Content type: Primary research

    Published on:

  30. The recent coronavirus disease 2019 (COVID-19) pandemic has caused worldwide disruption which also extends to the arena of scientific meetings around the world. Here, we explore the lessons learned from moving...

    Authors: Alistair R. R. Forrest, Gabriela M. Repetto and Juergen K. V. Reichardt

    Citation: Human Genomics 2020 14:27

    Content type: Meeting report

    Published on:

  31. Joubert syndrome (JS) is a rare genetic disorder, which can be defined by brain stem malformation, cerebellar vermis hypoplasia, and consequent “molar tooth sign” (MTS). JS always shares variety of phenotypes ...

    Authors: Xiang Wang, Zhu Zhang, Xueguang Zhang, Ying Shen and Hongqian Liu

    Citation: Human Genomics 2020 14:26

    Content type: Primary research

    Published on:

  32. Human-induced pluripotent stem cells (hiPSCs) and CRISPR/Cas9 gene editing system represent two instruments of basic and translational research, which both allow to acquire deep insight about the molecular bas...

    Authors: Claudia De Masi, Paola Spitalieri, Michela Murdocca, Giuseppe Novelli and Federica Sangiuolo

    Citation: Human Genomics 2020 14:25

    Content type: Review

    Published on:

  33. Colon adenocarcinoma (COAD) is one of the common gastrointestinal malignant diseases, with high mortality rate and poor prognosis due to delayed diagnosis. This study aimed to construct a prognostic prediction...

    Authors: Lipeng Jin, Chenyao Li, Tao Liu and Lei Wang

    Citation: Human Genomics 2020 14:24

    Content type: Primary research

    Published on:

  34. Genetic research on longevity has provided important insights into the mechanism of aging and aging-related diseases. Pinpointing import genetic variants associated with aging could provide insights for aging ...

    Authors: Shuhua Shen, Chao Li, Luwei Xiao, Xiaoming Wang, Hang Lv, Yuan Shi, Yixue Li and Qi Huang

    Citation: Human Genomics 2020 14:23

    Content type: Primary research

    Published on:

  35. Cell-free fetal DNA (cffDNA) has opened up new approaches for non-invasive prenatal testing (NIPT), and it is often used as the second-tier test for high-risk pregnant women in detecting trisomy (T) 21, T18, a...

    Authors: Yanhui Liu, Hailiang Liu, Yi He, Wanfang Xu, Qiulin Ma, Yuzhen He, Wei Lei, Guoquan Chen, Zheng He, Jiayi Huang, Jianan Liu, Yuanru Liu, Quanfei Huang and Fubing Yu

    Citation: Human Genomics 2020 14:21

    Content type: Primary research

    Published on:

  36. An individual’s response to environmental exposures varies depending on their genotype, which has been termed the gene-environment interaction. The phenotype of cell exposed can also be a key determinant in th...

    Authors: Andreanna Burman, Rolando Garcia-Milian and Shannon Whirledge

    Citation: Human Genomics 2020 14:19

    Content type: Primary research

    Published on:

  37. Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease affecting the central nervous system in young adults. Heparan sulfate proteoglycans (HSPGs) are ubiquitous to the cell surface and the ex...

    Authors: Rachel K. Okolicsanyi, Julia Bluhm, Cassandra Miller, Lyn R. Griffiths and Larisa M. Haupt

    Citation: Human Genomics 2020 14:18

    Content type: Primary research

    Published on:

  38. The recent coronavirus disease (COVID-19), caused by SARS-CoV-2, is inarguably the most challenging coronavirus outbreak relative to the previous outbreaks involving SARS-CoV and MERS-CoV. With the number of C...

    Authors: Krystal J. Godri Pollitt, Jordan Peccia, Albert I. Ko, Naftali Kaminski, Charles S. Dela Cruz, Daniel W. Nebert, Juergen K.V. Reichardt, David C. Thompson and Vasilis Vasiliou

    Citation: Human Genomics 2020 14:17

    Content type: Review

    Published on:

  39. Schizophrenia is a chronic and severe mental disorder, and it has been predicted to be highly polygenic. Common SNPs located in or near BNIP3L were found to be genome-wide significantly associated with schizophre...

    Authors: Juan Zhou, Chuanchuan Ma, Ke Wang, Xiuli Li, Xuemin Jian, Han Zhang, Jianmin Yuan, Jiajun Yin, Jianhua Chen and Yongyong Shi

    Citation: Human Genomics 2020 14:16

    Content type: Primary research

    Published on:

Annual Journal Metrics