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  1. 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:

  4. 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:

  5. 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:

  6. 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:

  7. 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:

  8. 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:

  9. 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:

  10. 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:

  11. 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:

  12. 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:

  13. 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:

  14. 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:

  15. 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:

  17. 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:

  19. 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:

  20. 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:

  21. 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:

  22. 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:

  27. There is evidence that genetic polymorphisms and environmentally induced epigenetic changes play an important role in modifying disease risk. The commensal microbiota has the ability to affect the cellular env...

    Authors: Ashima Nayyar, Sofya Gindina, Arturo Barron, Yan Hu and John Danias
    Citation: Human Genomics 2020 14:11
    Content type: Review Published on:

  28. Metoprolol succinate is a long-acting beta-blocker prescribed for the management of hypertension (HTN) and other cardiovascular diseases. Metabolomics, the study of end-stage metabolites of upstream biologic p...

    Authors: Chad N. Brocker, Thomas Velenosi, Hania K. Flaten, Glenn McWilliams, Kyle McDaniel, Shelby K. Shelton, Jessica Saben, Kristopher W. Krausz, Frank J. Gonzalez and Andrew A. Monte
    Citation: Human Genomics 2020 14:10
    Content type: Primary research Published on:

  29. Gain-of-function mutations in the GLUD1 gene, encoding for glutamate dehydrogenase (GDH), result in the hyperinsulinism/hyperammonemia HI/HA syndrome. HI/HA patients present with harmful hypoglycemia secondary to...

    Authors: Karolina Luczkowska, Caroline Stekelenburg, Frédérique Sloan-Béna, Emmanuelle Ranza, Giacomo Gastaldi, Valérie Schwitzgebel and Pierre Maechler
    Citation: Human Genomics 2020 14:9
    Content type: Primary research Published on:

    The Correction to this article has been published in Human Genomics 2021 15:4

  31. Preeclampsia (PE) is a heterogeneous, hypertensive disorder of pregnancy, with no robust biomarkers or effective treatments. PE increases the risk of poor outcomes for both the mother and the baby. Methylation...

    Authors: Shuyu Zhao, Nan Lv, Yan Li, Tianyi Liu, Yuhong Sun and Xiaodan Chu
    Citation: Human Genomics 2020 14:5
    Content type: Primary research Published on:

  32. Genome-wide association studies (GWAS) have significantly contributed to the association of many clinical conditions and phenotypic characteristics with genomic variants. The majority of these genomic findings...

    Authors: Maria Koromina, Stefania Koutsilieri and George P. Patrinos
    Citation: Human Genomics 2020 14:4
    Content type: Primary research Published on:

  34. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the NOTCH3 gene. Our laboratory has been undertaking ...

    Authors: P. J. Dunn, N. Maksemous, R. A. Smith, H. G. Sutherland, L. M. Haupt and L. R. Griffiths
    Citation: Human Genomics 2020 14:2
    Content type: Primary research Published on:

  35. Recurrent implantation failure (RIF) is the failure of embryos to implant more than two times in a given individual. There is debate about a precise definition for RIF, but we consider more than two implantati...

    Authors: Jeong Yong Lee, Eun Hee Ahn, Jung Oh Kim, Han Sung Park, Chang Soo Ryu, Ji Hyang Kim, Young Ran Kim, Woo Sik Lee and Nam Keun Kim
    Citation: Human Genomics 2019 13:68
    Content type: Primary research Published on:

  36. Aging is believed to have a close association with cardiovascular diseases, resulting in various pathological alterations in blood vessels, including vascular cell phenotypic shifts. In aging vessels, the micr...

    Authors: Huan Liu, Hongwei Wang, Sijin Yang and Dehui Qian
    Citation: Human Genomics 2019 13:67
    Content type: Primary research Published on:

  37. Transcription factors (TFs) consisting of zinc fingers combined with BTB (for broad-complex, tram-track, and bric-a-brac) domain (ZBTB) are a highly conserved protein family that comprises a multifunctional an...

    Authors: Caterina Constantinou, Magda Spella, Vasiliki Chondrou, George P. Patrinos, Adamantia Papachatzopoulou and Argyro Sgourou
    Citation: Human Genomics 2019 13:66
    Content type: Review Published on:

  38. Chronic alcohol consumption is a significant cause of liver disease worldwide. Several biochemical mechanisms have been linked to the initiation and progression of alcoholic liver disease (ALD) such as oxidati...

    Authors: Mohammed A. Assiri, Hadi R. Ali, John O. Marentette, Youngho Yun, Juan Liu, Matthew D. Hirschey, Laura M. Saba, Peter S. Harris and Kristofer S. Fritz
    Citation: Human Genomics 2019 13:65
    Content type: Primary research Published on:

  39. In South America, the history of human genetics is extensive and its beginnings go back to the onset of the twentieth century. In Ecuador, the historical record of human genetics and genomics research is limit...

    Authors: Marlon S. Zambrano-Mila, Spiros N. Agathos and Juergen K. V. Reichardt
    Citation: Human Genomics 2019 13:64
    Content type: Primary research Published on:

  40. Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short statu...

    Authors: Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An and Feihong Luo
    Citation: Human Genomics 2019 13:63
    Content type: Primary research Published on:

  41. The identification of cell-free fetal DNA (cffDNA) facilitated non-invasive prenatal screening (NIPS) through analysis of cffDNA in maternal plasma. However, challenges regarding its clinical implementation be...

    Authors: Yaping Hou, Jiexia Yang, Yiming Qi, Fangfang Guo, Haishan Peng, Dongmei Wang, Yixia Wang, Xiaohui Luo, Yi Li and Aihua Yin
    Citation: Human Genomics 2019 13:62
    Content type: Primary research Published on:

  42. Retinoic acid (RA) is a potent morphogen required for embryonic development. RA is formed in a multistep process from vitamin A (retinol); RA acts in a paracrine fashion to shape the developing eye and is esse...

    Authors: Brian Thompson, Nicholas Katsanis, Nicholas Apostolopoulos, David C. Thompson, Daniel W. Nebert and Vasilis Vasiliou
    Citation: Human Genomics 2019 13:61
    Content type: Review Published on:

  43. Since the discovery of cell-free DNA (cfDNA) in maternal plasma, it has opened up new approaches for non-invasive prenatal testing. With the development of whole-genome sequencing, small subchromosomal deletio...

    Authors: Yibo Chen, Qi Yu, Xiongying Mao, Wei Lei, Miaonan He and Wenbo Lu
    Citation: Human Genomics 2019 13:60
    Content type: Primary research Published on:

  44. Tobacco smoking induces immunomodulatory and pro-inflammatory effects associated with transcriptome changes in monocytes and other immune cell types. While smoking is prevalent in HIV-infected (HIV+) individua...

    Authors: David R. Lorenz, Vikas Misra and Dana Gabuzda
    Citation: Human Genomics 2019 13:59
    Content type: Primary research Published on:

  45. Long non-coding RNAs became the hot spots in the carcinogenesis of various tumors. This case-control study evaluated the association between the rs2151280 in lncRNA CDKN2B-AS1 and lung cancer risk.

    Authors: Xiaoting Lv, Zhigang Cui, Hang Li, Juan Li, Zitai Yang, Yanhong Bi, Min Gao, Ziwei Zhang, Shengli Wang, Baosen Zhou and Zhihua Yin
    Citation: Human Genomics 2019 13:58
    Content type: Primary research Published on:

  46. Chromosomal inversions are structural genetic variants where a chromosome segment changes its orientation. While sporadic de novo inversions are known genetic risk factors for cancer susceptibility, it is unkn...

    Authors: Carlos Ruiz-Arenas, Alejandro Cáceres, Victor Moreno and Juan R. González
    Citation: Human Genomics 2019 13:57
    Content type: Primary research Published on:

  47. Coronary artery disease (CAD) including acute myocardial infarction (AMI) is a common complex disease caused by atherosclerosis. Vascular epithelial growth factor receptor-1 (VEGFR-1) stimulates angiogenesis a...

    Authors: Haihua Wang, Shufang Zhang, Na Wang, Jie Zhang, Mingkai Chen, Xiaohui He, Yinghua Cui, Shuchao Pang and Bo Yan
    Citation: Human Genomics 2019 13:56
    Content type: Primary research Published on:

  48. Obesity—with its increased risk of obesity-associated metabolic diseases—has become one of the greatest public health epidemics of the twenty-first century in affluent countries. To date, there are no ideal dr...

    Authors: Yuyan Pan, Jiaqi Liu and Fazhi Qi
    Citation: Human Genomics 2019 13:55
    Content type: Primary research Published on:

  49. The heat-shock transcription factor 1 (HSF1) has been linked to cell proliferation and survival in cancer and has been proposed as a biomarker for poor prognosis. Here, we assessed the role of HSF1 expression in ...

    Authors: Nele Brusselaers, Karl Ekwall and Mickael Durand-Dubief
    Citation: Human Genomics 2019 13:54
    Content type: Primary research Published on:

  50. In recent years, with the development of high-throughput genome sequencing technologies, a large amount of genome data has been generated, which has caused widespread concern about data storage and transmissio...

    Authors: Rongjie Wang, Tianyi Zang and Yadong Wang
    Citation: Human Genomics 2019 13(Suppl 1):49
    Content type: Research Published on:

    This article is part of a Supplement: Volume 13 Supplement 1

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Human Genomics

ISSN: 1479-7364