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  1. Mitochondrial genome copy number (MT-CN) varies among humans and across tissues and is highly heritable, but its causes and consequences are not well understood. When measured by bulk DNA sequencing in blood, ...

    Authors: Liron Ganel, Lei Chen, Ryan Christ, Jagadish Vangipurapu, Erica Young, Indraniel Das, Krishna Kanchi, David Larson, Allison Regier, Haley Abel, Chul Joo Kang, Alexandra Scott, Aki Havulinna, Charleston W. K. Chiang, Susan Service, Nelson Freimer…

    Citation: Human Genomics 2021 15:34

    Content type: Primary research

    Published on:

  2. Recent efforts in the field of nutritional science have allowed the discovery of disease-beating molecules within foods based on the commonality of bioactive food molecules to FDA-approved drugs. The pioneerin...

    Authors: Guadalupe Gonzalez, Shunwang Gong, Ivan Laponogov, Michael Bronstein and Kirill Veselkov

    Citation: Human Genomics 2021 15:33

    Content type: Primary research

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  3. For decades, various strategies have been proposed to solve the enigma of hemoglobinopathies, especially severe cases. However, most of them seem to be lagging in terms of effectiveness and safety. So far, the...

    Authors: Kariofyllis Karamperis, Maria T. Tsoumpeli, Fotios Kounelis, Maria Koromina, Christina Mitropoulou, Catia Moutinho and George P. Patrinos

    Citation: Human Genomics 2021 15:32

    Content type: Review

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  4. UDP-glucuronosyltransferases (UGTs) are the main phase II drug-metabolizing enzymes mediating the most extensive glucuronidation-binding reaction in the human body. The UGT1A family is involved in more than ha...

    Authors: Cui-Lan Meng, Wei Zhao and Dan-Ni Zhong

    Citation: Human Genomics 2021 15:30

    Content type: Review

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  5. Coronavirus disease 2019 (COVID-19) is a global health problem that causes millions of deaths worldwide. The clinical manifestation of COVID-19 widely varies from asymptomatic infection to severe pneumonia and...

    Authors: Laksmi Wulandari, Berliana Hamidah, Cennikon Pakpahan, Nevy Shinta Damayanti, Neneng Dewi Kurniati, Christophorus Oetama Adiatmaja, Monica Rizky Wigianita, Soedarsono, Dominicus Husada, Damayanti Tinduh, Cita Rosita Sigit Prakoeswa, Anang Endaryanto, Ni Nyoman Tri Puspaningsih, Yasuko Mori, Maria Inge Lusida, Kazufumi Shimizu…

    Citation: Human Genomics 2021 15:29

    Content type: Primary research

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  6. Rare diseases are pathologies that affect less than 1 in 2000 people. They are difficult to diagnose due to their low frequency and their often highly heterogeneous symptoms. Rare diseases have in general a hi...

    Authors: Víctor Raggio, Nicolas Dell’Oca, Camila Simoes, Alejandra Tapié, Conrado Medici, Gonzalo Costa, Soledad Rodriguez, Gonzalo Greif, Estefania Garrone, María Laura Rovella, Virgina Gonzalez, Margarita Halty, Gabriel González, Jong-Yeon Shin, Sang-Yoon Shin, Changhoon Kim…

    Citation: Human Genomics 2021 15:28

    Content type: Primary research

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  7. COVID-19 has engulfed the world and it will accompany us all for some time to come. Here, we review the current state at the milestone of 1 year into the pandemic, as declared by the WHO (World Health Organiza...

    Authors: Giuseppe Novelli, Michela Biancolella, Ruty Mehrian-Shai, Vito Luigi Colona, Anderson F. Brito, Nathan D. Grubaugh, Vasilis Vasiliou, Lucio Luzzatto and Juergen K. V. Reichardt

    Citation: Human Genomics 2021 15:27

    Content type: Review

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  8. Mathematical approaches have been for decades used to probe the structure of nucleotide sequences. This has led to the development of Bioinformatics. In this exploratory work, a novel mathematical method is ap...

    Authors: Anastasios A. Tsonis, Geli Wang, Lvyi Zhang, Wenxu Lu, Aristotle Kayafas and Katia Del Rio-Tsonis

    Citation: Human Genomics 2021 15:26

    Content type: Primary research

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    The Correction to this article has been published in Human Genomics 2021 15:31

  9. Trisomy 21 (T21) is a genetic alteration characterised by the presence of an extra full or partial human chromosome 21 (Hsa21) leading to Down syndrome (DS), the most common form of intellectual disability (ID...

    Authors: Francesca Antonaros, Rossella Zenatelli, Giulia Guerri, Matteo Bertelli, Chiara Locatelli, Beatrice Vione, Francesca Catapano, Alice Gori, Lorenza Vitale, Maria Chiara Pelleri, Giuseppe Ramacieri, Guido Cocchi, Pierluigi Strippoli, Maria Caracausi and Allison Piovesan

    Citation: Human Genomics 2021 15:25

    Content type: Primary research

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  10. The occurrence of osteoarthritis is related to genetic and environmental factors. Among them, the change of chondrocyte gene expression pattern regulated by epigenetic modification is an important participant....

    Authors: Guoliang Wang, Yanlin Li, Guang Yang, Tengyun Yang, Lu He and Yang Wang

    Citation: Human Genomics 2021 15:24

    Content type: Primary research

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  11. Currently, Chlamydia trachomatis–specific host defense mechanisms in humans remain poorly defined. To study the characteristics of host cells infected early with Chlamydia trachomatis, we used bioinformatics meth...

    Authors: Guo-Dong Zhu, Xun-Jie Cao, Ya-Ping Li, Jia-Xin Li, Zi-Jian Leng, Li-Min Xie and Xu-Guang Guo

    Citation: Human Genomics 2021 15:22

    Content type: Primary research

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  12. Non-small cell lung carcinoma (NSCLC) is one of the most common human cancers, comprising approximately 80–85% of all lung carcinomas. An estimated incidence of NSCLC is approximately 2 million new cases per y...

    Authors: Ya-jun Zhou, Wei Zheng, Qing-hua Zeng, Yang Ye, Ce Wang, Cheng Fang, Chao-jun Liu, Li Niu and Li-ming Wu

    Citation: Human Genomics 2021 15:21

    Content type: Primary research

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  13. In the novel coronavirus pandemic, the high infection rate and high mortality have seriously affected people’s health and social order. To better explore the infection mechanism and treatment, the three-dimens...

    Authors: Ke-Ying Fang, Wen-Chao Cao, Tian-Ao Xie, Jie Lv, Jia-Xin Chen, Xun-Jie Cao, Zhong-Wei Li, Shu-Ting Deng and Xu-Guang Guo

    Citation: Human Genomics 2021 15:18

    Content type: Genome database

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  14. Autism spectrum disorder (ASD) is a neurodevelopmental disease, characterized by impaired social communication, executive dysfunction, and abnormal perceptual processing. It is more frequent among males. All o...

    Authors: Zahra Rahmani, Mohammad Reza Fayyazi Bordbar, Mohsen Dibaj, Maliheh Alimardani and Meysam Moghbeli

    Citation: Human Genomics 2021 15:17

    Content type: Review

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  15. 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

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  16. 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

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  17. 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

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  18. 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

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  19. 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

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  20. 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

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  21. 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

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  22. 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

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

  23. 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

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  24. 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

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  25. 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:

  26. 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:

  27. 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:

  28. 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

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  29. 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:

  30. 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:

  31. 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

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  32. 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:

  33. 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

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  34. 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

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  35. 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:

  36. 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

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