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  1. Familial transthyretin (TTR) amyloidosis (ATTR) is an autosomal dominant disease with significant phenotypic heterogeneity. Its prevalence in Saudi Arabia has not previously been investigated. An existing exom...

    Authors: Mohamed Abouelhoda, Dania Mohty, Islam Alayary, Brian F. Meyer, Stefan T. Arold, Bahaa M. Fadel and Dorota Monies
    Citation: Human Genomics 2021 15:52
  2. The field of pharmacogenomics focuses on the way a person’s genome affects his or her response to a certain dose of a specified medication. The main aim is to utilize this information to guide and personalize ...

    Authors: Maria-Theodora Pandi, Maria Koromina, Iordanis Tsafaridis, Sotirios Patsilinakos, Evangelos Christoforou, Peter J. van der Spek and George P. Patrinos
    Citation: Human Genomics 2021 15:51
  3. The diagnostic process for uncommon disorders with similar manifestations is complicated and requires newer technology, like gene sequencing for a correct diagnosis.

    Authors: Samantha S. Sáenz, Benjamin Arias, Kazuyoshi Hosomichi and Vanessa I. Romero
    Citation: Human Genomics 2021 15:49
  4. Copy number variants (CNVs) include deletions or multiplications spanning genomic regions. These regions vary in size and may span genes known to play a role in human diseases. As examples, duplications and tr...

    Authors: Nadia Dehghani, Gamze Guven, Celia Kun-Rodrigues, Catarina Gouveia, Kalina Foster, Hasmet Hanagasi, Ebba Lohmann, Bedia Samanci, Hakan Gurvit, Basar Bilgic, Jose Bras and Rita Guerreiro
    Citation: Human Genomics 2021 15:48
  5. Increasing amounts of genetic data have led to the development of polygenic risk scores (PRSs) for a variety of diseases. These scores, built from the summary statistics of genome-wide association studies (GWA...

    Authors: John L. Slunecka, Matthijs D. van der Zee, Jeffrey J. Beck, Brandon N. Johnson, Casey T. Finnicum, René Pool, Jouke-Jan Hottenga, Eco J. C. de Geus and Erik A. Ehli
    Citation: Human Genomics 2021 15:46
  6. Leukodystrophies are the main subgroup of inherited CNS white matter disorders which cause significant mortality and morbidity in early years of life. Diagnosis is mostly based on clinical context and neuroima...

    Authors: Ali Zare Dehnavi, Erfan Heidari, Maryam Rasulinezhad, Morteza Heidari, Mahmoud Reza Ashrafi, Mohammad Mahdi Hosseini, Fatemeh Sadeghzadeh, Mohammad-Sadegh Fallah, Noushin Rostampour, Amir Bahraini, Masoud Garshasbi and Ali Reza Tavasoli
    Citation: Human Genomics 2021 15:45
  7. Previous research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of protein-coding (coding) de novo variants (DNVs) within specific genes. The role of de novo n...

    Authors: Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Benech, Kevin Uguen, Séverine Audebert-Bellanger, Cédric Le Marechal, Claude Férec, Stephanie Efthymiou, Fatima Rahman…
    Citation: Human Genomics 2021 15:44
  8. Tuberous sclerosis complex (TSC) is a rare autosomal dominant disease characterized by lesions throughout the body. Our previous study showed the abnormal up-regulation of miRNAs plays an important part in the...

    Authors: Yang Zhao, Hao Guo, Wenda Wang, Guoyang Zheng, Zhan Wang, Xu Wang and Yushi Zhang
    Citation: Human Genomics 2021 15:43
  9. Skeletal dysplasia is a common, clinically and genetically heterogeneous disorder in the human population. An increasing number of different genes are being identified causing this disorder. We used whole exom...

    Authors: Mahsa Sadat Asl Mohajeri, Atieh Eslahi, Zeinab Khazaii, Mohammad Reza Moradi, Reza Pazhoomand, Shima Farrokhi, Masoumeh Heidari Feizabadi, Farzaneh Alizadeh and Majid Mojarrad
    Citation: Human Genomics 2021 15:42
  10. To evaluate the performance of noninvasive prenatal testing (NIPT) and NIPT-PLUS for the detection of genome-wide microdeletion and microduplication syndromes (MMSs) at different sequencing depths. The NIPT se...

    Authors: Jiexia Yang, Jing Wu, Haishan Peng, Yaping Hou, Fangfang Guo, Dongmei Wang, Haoxin Ouyang, Yixia Wang and Aihua Yin
    Citation: Human Genomics 2021 15:41
  11. Trisomy 18 syndrome (Edwards syndrome, ES) is a type of aneuploidy caused by the presence of an extra chromosome 18. Aneuploidy is the leading cause of early pregnancy loss, intellectual disability, and multip...

    Authors: Xiaofen Qiu, Haiyan Yu, Hongwei Wu, Zhiyang Hu, Jun Zhou, Hua Lin, Wen Xue, Wanxia Cai, Jiejing Chen, Qiang Yan, Weier Dai, Ming Yang, Donge Tang and Yong Dai
    Citation: Human Genomics 2021 15:40
  12. Liver cancer is one of the most common cancers and causes of cancer death worldwide. The objective was to elucidate novel hub genes which were benefit for diagnosis, prognosis, and targeted therapy in liver cance...

    Authors: Xinyi Lei, Miao Zhang, Bingsheng Guan, Qiang Chen, Zhiyong Dong and Cunchuan Wang
    Citation: Human Genomics 2021 15:39
  13. Acute myeloid leukemia (AML) is recognized as a hematological neoplasm with heterogenetic cytology and short-term outcome. HCP5 has been proven to be related with the pathogenesis of AML. However, the underlyi...

    Authors: Yan Liu, Xue-Bing Jing, Zhen-Cheng Wang and Qing-Kun Han
    Citation: Human Genomics 2021 15:38
  14. Genetic disposition is considered critical for identifying subjects at high risk for disease development. Investigating disease-causing and high and low expressed genes can support finding the root causes of u...

    Authors: Zeeshan Ahmed, Eduard Gibert Renart, Saman Zeeshan and XinQi Dong
    Citation: Human Genomics 2021 15:37
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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

    The Editorial to this article has been published in Human Genomics 2021 15:57

  22. 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

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

  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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

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

  37. 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

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