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  1. 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:

  2. 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

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  3. 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

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  4. 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

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  5. 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

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  6. 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

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  7. 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

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  8. 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

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  9. 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

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  10. 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

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  11. Dysfunction in inwardly rectifying potassium channel Kir4.1 has been implicated in SeSAME syndrome, an autosomal-recessive (AR), rare, multi-systemic disorder. However, not all neurological, intellectual disab...

    Authors: Ravi K. Nadella, Anirudh Chellappa, Anand G. Subramaniam, Ravi Prabhakar More, Srividya Shetty, Suriya Prakash, Nikhil Ratna, V. P. Vandana, Meera Purushottam, Jitender Saini, Biju Viswanath, P. S. Bindu, Madhu Nagappa, Bhupesh Mehta, Sanjeev Jain and Ramakrishnan Kannan

    Citation: Human Genomics 2019 13:53

    Content type: Primary research

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  12. 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

  13. 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

  14. Microbes are greatly associated with human health and disease, especially in densely populated cities. It is essential to understand the microbial ecosystem in an urban environment for cities to monitor the tr...

    Authors: Guangyu Zhou, Jyun-Yu Jiang, Chelsea J.-T. Ju and Wei Wang

    Citation: Human Genomics 2019 13(Suppl 1):47

    Content type: Research

    Published on:

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

  15. 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

  16. 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

  17. 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

  18. MicroRNAs (miRNAs) are a family of short, non-coding RNAs that have been linked to critical cellular activities, most notably regulation of gene expression. The identification of miRNA is a cross-disciplinary ...

    Authors: Mohsen Sheikh Hassani and James R. Green

    Citation: Human Genomics 2019 13(Suppl 1):43

    Content type: Research

    Published on:

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

  19. 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

  20. Home to a culturally heterogeneous population, India is also a melting pot of genetic diversity. The population architecture characterized by multiple endogamous groups with specific marriage patterns, includi...

    Authors: Sridhar Sivasubbu and Vinod Scaria

    Citation: Human Genomics 2019 13:52

    Content type: Review

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  21. Pre-eclampsia (PE) is regarded as the leading cause of maternal and neonatal morbidity and mortality. Nevertheless, the potential mechanism for the regulation of trophoblast behaviors and the pathogenesis of P...

    Authors: Qian Li, Jing Zhang, Dong-Mei Su, Li-Na Guan, Wei-Hong Mu, Mei Yu, Xu Ma and Rong-Juan Yang

    Citation: Human Genomics 2019 13:50

    Content type: Primary research

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  22. Targeted therapies have greatly improved cancer patient prognosis. For instance, chronic myeloid leukemia is now well treated with imatinib, a tyrosine kinase inhibitor. Around 80% of the patients reach comple...

    Authors: Florence Lichou, Sébastien Orazio, Stéphanie Dulucq, Gabriel Etienne, Michel Longy, Christophe Hubert, Alexis Groppi, Alain Monnereau, François-Xavier Mahon and Béatrice Turcq

    Citation: Human Genomics 2019 13:41

    Content type: Primary research

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  23. While genome-wide association studies (GWAS) of multiple myeloma (MM) have identified variants at 23 regions influencing risk, the genes underlying these associations are largely unknown. To identify candidate...

    Authors: Molly Went, Ben Kinnersley, Amit Sud, David C. Johnson, Niels Weinhold, Asta Försti, Mark van Duin, Giulia Orlando, Jonathan S. Mitchell, Rowan Kuiper, Brian A. Walker, Walter M. Gregory, Per Hoffmann, Graham H. Jackson, Markus M. Nöthen, Miguel Inacio da Silva Filho…

    Citation: Human Genomics 2019 13:37

    Content type: Primary research

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  24. This study aimed to describe the use of a novel 4-lncRNA signature to predict prognosis in patients with laryngeal cancer and to explore its possible mechanisms.

    Authors: Guihai Zhang, Erxi Fan, Qiuyue Zhong, Guangyong Feng, Yu Shuai, Mingna Wu, Qiying Chen and Xiaoxia Gou

    Citation: Human Genomics 2019 13:36

    Content type: Primary research

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  25. RUNX1 gene, a master regulator of the hematopoietic process, participates in pathological conditions as a partner for several genes in chromosomal translocations. One of the most frequent chromosomal translocatio...

    Authors: Nicolás Schnake, Marcela Hinojosa and Soraya Gutiérrez

    Citation: Human Genomics 2019 13:33

    Content type: Primary research

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  26. Persistent infections that induce prolonged inflammation might negatively affect the leukocyte telomere length (LTL); however, the role in LTL of Helicobacter pylori (H. pylori) infection, which persistently colo...

    Authors: Khitam Muhsen, Ronit Sinnreich, Dafna Merom, Hisham Nassar, Dani Cohen and Jeremy D. Kark

    Citation: Human Genomics 2019 13:32

    Content type: Primary research

    Published on:

  27. Neurodevelopmental disorders (NDDs) represent a growing medical challenge in modern societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a remarkably complex architecture ...

    Authors: Ana R. Cardoso, Mónica Lopes-Marques, Raquel M. Silva, Catarina Serrano, António Amorim, Maria J. Prata and Luísa Azevedo

    Citation: Human Genomics 2019 13:31

    Content type: Review

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  28. Next-generation sequencing (NGS) has been advancing the progress of detection of disease-associated genetic variants and genome-wide profiling of expressed sequences over the past decade. NGS enables the analy...

    Authors: Naznin Sultana, Mijanur Rahman, Sanat Myti, Jikrul Islam, Md. G. Mustafa and Kakon Nag

    Citation: Human Genomics 2019 13:30

    Content type: Primary research

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  29. In the original publication of this article [1], the Figure 1 and Figure 2 were wrong. The Figure 1 “Heat map showing the quantity of DNA repair genes, from red to blue in ascending order, per species’ genome (nu...

    Authors: Konstantinos Voskarides, Harsh Dweep and Charalambos Chrysostomou

    Citation: Human Genomics 2019 13:29

    Content type: Correction

    Published on:

    The original article was published in Human Genomics 2019 13:26

  30. Adjuvant radiotherapy (RT) can increase the risk of developing pain; however, the molecular mechanisms of RT-related pain remain unclear. The current study aimed to identify susceptibility loci and enriched pa...

    Authors: Eunkyung Lee, Cristiane Takita, Jean L. Wright, Susan H. Slifer, Eden R. Martin, James J. Urbanic, Carl D. Langefeld, Glenn J. Lesser, Edward G. Shaw and Jennifer J. Hu

    Citation: Human Genomics 2019 13:28

    Content type: Primary research

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  31. Adaptive radiation and evolutionary stasis are characterized by very different evolution rates. The main aim of this study was to investigate if any genes have a special role to a high or low evolution rate. T...

    Authors: Konstantinos Voskarides, Harsh Dweep and Charalambos Chrysostomou

    Citation: Human Genomics 2019 13:26

    Content type: Primary research

    Published on:

    The Correction to this article has been published in Human Genomics 2019 13:29

  32. Osteogenesis imperfecta (OI) covers a spectrum of bone fragility disorders. OI is classified into five types; however, the genetic causes of OI might hide in pathogenic variants of 20 different genes. Often cl...

    Authors: Lidiia Zhytnik, Katre Maasalu, Binh Ho Duy, Andrey Pashenko, Sergey Khmyzov, Ene Reimann, Ele Prans, Sulev Kõks and Aare Märtson

    Citation: Human Genomics 2019 13:25

    Content type: Primary research

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  33. The HUGO Committee on Ethics, Law and Society (CELS) undertook a Working Group exploration of the key ethical issues arising from genome sequencing in 2013. The Imagined Futures paper the group subsequently publi...

    Authors: Benjamin Capps, Ruth Chadwick, Yann Joly, Tamra Lysaght, Catherine Mills, John J. Mulvihill and Hub Zwart

    Citation: Human Genomics 2019 13:24

    Content type: Opinion article

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  34. Elevated resting heart rate (HR) is a risk factor and therapeutic target in patients with heart failure (HF) and reduced ejection fraction (HFrEF). Previous studies indicate a genetic contribution to HR in pop...

    Authors: Kaleigh L. Evans, Heidi S. Wirtz, Jia Li, Ruicong She, Juan Maya, Hongsheng Gui, Andrew Hamer, Christophe Depre and David E. Lanfear

    Citation: Human Genomics 2019 13:22

    Content type: Primary research

    Published on:

  35. End-stage kidney disease (ESKD) is a significant public health concern disproportionately affecting African Americans (AAs). Type 2 diabetes (T2D) is the leading cause of ESKD in the USA, and efforts to uncove...

    Authors: Meijian Guan, Jacob M. Keaton, Latchezar Dimitrov, Pamela J. Hicks, Jianzhao Xu, Nicholette D. Palmer, Lijun Ma, Swapan K. Das, Yii-Der I. Chen, Josef Coresh, Myriam Fornage, Nora Franceschini, Holly Kramer, Carl D. Langefeld, Josyf C. Mychaleckyj, Rulan S. Parekh…

    Citation: Human Genomics 2019 13:21

    Content type: Primary research

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  36. Genome-wide association studies (GWAS) of diseases and traits have found associations to gene regions but not the functional SNP or the gene mediating the effect. Difference in gene regulatory signals can be d...

    Authors: Marco Cavalli, Nicholas Baltzer, Gang Pan, José Ramón Bárcenas Walls, Karolina Smolinska Garbulowska, Chanchal Kumar, Stanko Skrtic, Jan Komorowski and Claes Wadelius

    Citation: Human Genomics 2019 13:20

    Content type: Primary research

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  37. Amyotrophic lateral sclerosis [1] is a genetically heterogeneous neurodegenerative disorder, characterized by late-onset degeneration of motor neurons leading to progressive limb and bulbar weakness, as well as o...

    Authors: Rossella Spataro, Maria Kousi, Sali M. K. Farhan, Jason R. Willer, Jay P. Ross, Patrick A. Dion, Guy A. Rouleau, Mark J. Daly, Benjamin M. Neale, Vincenzo La Bella and Nicholas Katsanis

    Citation: Human Genomics 2019 13:19

    Content type: Primary research

    Published on:

  38. Obesity during childhood can lead to increased risk of adverse cardiometabolic diseases such as type 2 diabetes and coronary artery disease during adult life. Evidence for strong genetic correlations between c...

    Authors: Fasil Tekola-Ayele, Anthony Lee, Tsegaselassie Workalemahu and Katy Sánchez-Pozos

    Citation: Human Genomics 2019 13:17

    Content type: Primary research

    Published on:

  39. Age-related macular degeneration (AMD) is the most common, progressive, and polygenic cause of irreversible visual impairment in the world. The molecular pathogenesis of the primary events of AMD is poorly und...

    Authors: Madhu Sudhana Saddala, Anton Lennikov, Anthony Mukwaya, Lijuan Fan, Zhengmao Hu and Hu Huang

    Citation: Human Genomics 2019 13:15

    Content type: Primary research

    Published on:

  40. Noninvasive prenatal testing (NIPT) for fetal aneuploidies by scanning cell-free fetal DNA in maternal plasma is rapidly becoming a first-tier aneuploidy screening test in clinical practices. With the developm...

    Authors: Hua Hu, Li Wang, Jiayan Wu, Peng Zhou, Jingli Fu, Jiuchen Sun, Weiyi Cai, Hailiang Liu and Ying Yang

    Citation: Human Genomics 2019 13:14

    Content type: Primary research

    Published on:

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