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  1. 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:

  2. 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

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  3. 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

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  4. 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

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  5. 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

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  6. 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:

  7. 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

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  8. 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:

  9. 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

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  10. 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

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  11. 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

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  12. 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

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  13. 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

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  14. 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

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  15. 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

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  16. 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

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  17. 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

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  18. 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

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  19. 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

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  20. 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

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  21. 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

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  22. 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

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  23. 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

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  24. 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

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  25. 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

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  26. 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:

  27. 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:

  28. 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:

  29. 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:

  30. 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:

  31. 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:

  32. 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:

  33. 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:

  34. 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:

  35. 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:

  36. 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:

  37. 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

  38. De novo genome assembly is a technique that builds the genome of a specimen using overlaps of genomic fragments without additional work with reference sequence. Sequence fragments (called reads) are assembled ...

    Authors: Alexander J. Paul, Dylan Lawrence, Myoungkyu Song, Seung-Hwan Lim, Chongle Pan and Tae-Hyuk Ahn

    Citation: Human Genomics 2019 13(Suppl 1):48

    Content type: Research

    Published on:

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

  39. As one of the most popular data representation methods, non-negative matrix decomposition (NMF) has been widely concerned in the tasks of clustering and feature selection. However, most of the previously propo...

    Authors: Na Yu, Ying-Lian Gao, Jin-Xing Liu, Juan Wang and Junliang Shang

    Citation: Human Genomics 2019 13(Suppl 1):46

    Content type: Research

    Published on:

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

  40. Modern applications such as bioinformatics collecting data in various ways can easily result in heterogeneous data. Traditional variable selection methods assume samples are independent and identically distrib...

    Authors: Meng Lu

    Citation: Human Genomics 2019 13(Suppl 1):45

    Content type: Research

    Published on:

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

  41. Protein–protein interaction (PPI) information extraction from biomedical literature helps unveil the molecular mechanisms of biological processes. Especially, the PPIs associated with human malignant neoplasms...

    Authors: Qingqing Li, Zhihao Yang, Zhehuan Zhao, Ling Luo, Zhiheng Li, Lei Wang, Yin Zhang, Hongfei Lin, Jian Wang and Yijia Zhang

    Citation: Human Genomics 2019 13(Suppl 1):44

    Content type: Research

    Published on:

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

  42. Gene set analysis is a well-established approach for interpretation of data from high-throughput gene expression studies. Achieving reproducible results is an essential requirement in such studies. One factor ...

    Authors: Farhad Maleki, Katie Ovens, Ian McQuillan and Anthony J. Kusalik

    Citation: Human Genomics 2019 13(Suppl 1):42

    Content type: Research

    Published on:

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

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